title: NM_001142800.1(EYS):c.1767-24596_2023+238135del AND Retinitis pigmentosa 25

value: Pathogenic

description: Pathogenic


title: NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del AND Ornithine aminotransferase deficiency

description: Pathogenic


title: NM_003477.3(PDHX):c.1183-3088_1247+760del AND Pyruvate dehydrogenase E3-binding protein deficiency

description: Pathogenic

alternateAlleleVcf: G


title: NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) AND Pyruvate dehydrogenase E3-binding protein deficiency

description: Pathogenic


title: NM_022464.5:c.454-6721_768-23561del AND Marinesco-Sjögren syndrome

description: Pathogenic


title: NM_006493.4(CLN5):c.566-42_*46del AND Neuronal ceroid lipofuscinosis 5

description: Pathogenic

alternateAlleleVcf: A


title: NC_000008.11:g.52623770_52685461del AND Breast adenocarcinoma

description: Pathogenic


title: nsv1067861 AND Breast adenocarcinoma

description: Pathogenic


title: NC_000022.11:g.(?_18906222)_(18936553_?)del AND Proline dehydrogenase deficiency

title: NC_000022.11:g.(?_18906222)_(18936553_?)del AND Schizophrenia 4

value: risk factor

description: Pathogenic; risk factor


title: NM_032383.5(HPS3):c.0_217+692del AND Hermansky-Pudlak syndrome 3

description: Pathogenic

alternateAlleleVcf: C


title: NC_000006.12:g.144176889_144196077del AND Familial hemophagocytic lymphohistiocytosis 4

description: Pathogenic


title: NM_014946.4(SPAST):c.1246-2896_1493+523dup AND Hereditary spastic paraplegia 4

description: Pathogenic

referenceAlleleVcf: A


title: nsv1197507 AND Mitochondrial complex 1 deficiency, nuclear type 9

description: Pathogenic

alternateAlleleVcf: T


title: NM_003664.5(AP3B1):c.1474-7072_1650+921del AND Hermansky-Pudlak syndrome 2

description: Pathogenic


title: NM_007129.4(ZIC2):c.177_178ins56 AND Holoprosencephaly 5

description: Pathogenic


title: nsv513788 AND Autosomal recessive early-onset Parkinson disease 7

description: Pathogenic


title: NM_006412.4(AGPAT2):c.366_588+534del AND Congenital generalized lipodystrophy type 1

description: Pathogenic


title: nsv513786 AND Hyperphosphatasemia with bone disease

description: Pathogenic


title: NM_000414.4(HSD17B4):c.974_1209+1del AND Bifunctional peroxisomal enzyme deficiency

description: Pathogenic


title: NM_000414.4(HSD17B4):c.1212_1261+2del AND Bifunctional peroxisomal enzyme deficiency

description: Pathogenic


title: NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) AND Tangier disease

description: Pathogenic

referenceAlleleVcf: AGAACTTCCTCTCA


title: NM_000387.6(SLC25A20):c.200_326+1del AND Carnitine acylcarnitine translocase deficiency

description: Pathogenic


title: NM_000426.4(LAMA2):c.7750-1713_7899-2153del AND Merosin deficient congenital muscular dystrophy

description: Pathogenic


title: NM_000518.4(HBB):c.-7305_92+16del AND Hemoglobin Lepore trait

description: Pathogenic


title: CYP2A6*12A AND Warfarin response

value: drug response

title: CYP2A6*12A AND CYP2A6*12A

description: drug response


title: NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)] AND Myotonic dystrophy type 2

description: Pathogenic


title: NM_001625.4(AK2):c.636_*4953del (p.Ser213fs) AND Reticular dysgenesis

description: Pathogenic


title: NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del AND Hemolytic uremic syndrome, atypical, susceptibility to, 1

description: Pathogenic


title: NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA AND Osteogenesis imperfecta type 14

description: Pathogenic

alternateAllele: AATTAAGGTATA


title: NM_017410.2(HOXC13):c.-24497_736+2389del AND Ectodermal dysplasia 9, hair/nail type

description: Pathogenic


title: nsv1067844 AND Hermansky-Pudlak syndrome 6

description: Pathogenic


title: NM_025137.4(SPG11):c.5867-3237_6478-451del AND Hereditary spastic paraplegia 11

description: Pathogenic


title: NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA AND Cystic fibrosis

description: Pathogenic

alternateAlleleVcf: TGTTAA


title: NM_000492.3(CFTR):c.4_53+69del119ins299 AND Cystic fibrosis

value: not provided

description: not provided


title: GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xq13.2(chrX:73835373-73839625)x1 AND See cases

value: Uncertain significance

description: Uncertain significance


title: GRCh38/hg38 Xq21.1(chrX:79350406-79835322)x0 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xq28(chrX:149493233-149500929)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xq28(chrX:155828359-155979369)x0 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Yq11.222(chrY:17473635-18640716)x0 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Yq11.223(chrY:22028149-22349485)x0 AND See cases

description: Uncertain significance


title: GRCh38/hg38 15q11.2(chr15:24873776-24921819)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 4q31.23(chr4:149956405-150119840)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 Yp11.2(chrY:2210832-2525377)x0 AND See cases

description: Pathogenic


title: GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 AND See cases

description: Pathogenic


title: GRCh38/hg38 5q32(chr5:150368321-150396843)x3 AND See cases

description: Pathogenic


title: GRCh38/hg38 13q31.3(chr13:91431897-91628212)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 15q13.2(chr15:30639641-30746551)x1 AND See cases

description: Uncertain significance


title: GRCh37/hg19 13q34(chr13:114739949-115085141)x3 AND See cases

description: Uncertain significance


GRCh38/hg38 2p25.3(chr2:50661-140943)x1

title: GRCh38/hg38 2p25.3(chr2:50661-140943)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 2p16.3(chr2:51065432-51244648)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 6q22.31(chr6:124116341-124499647)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 8q11.21(chr8:49701257-50862570)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xp22.33(chrX:537126-718891)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 1q31.3(chr1:196788148-196827586)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp22.13(chrX:18643580-18838741)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp21.3(chrX:28759823-29094411)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp21.2(chrX:29713271-29740951)x3 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp21.1(chrX:32662366-32758964)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xq22.3(chrX:105891235-106425782)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xq21.1(chrX:77448504-77783428)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 11p13(chr11:31500417-31539732)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 Yp11.2(chrY:2783624-5104946)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 7q35(chr7:146972827-147058018)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 20q13.33(chr20:64206685-64261836)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 7p21.1(chr7:18638299-18797297)x1 AND See cases

description: Uncertain significance


title: GRCh37/hg19 21p11.1-q11.2(chr21:10953431-15707444)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 2q14.3(chr2:123969752-124253670)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 8q11.21(chr8:50478437-50790996)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 11q22.3(chr11:103328808-103570897)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 7q35(chr7:146652508-146770440)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 9p24.2(chr9:2682523-2784028)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 8p22(chr8:16095273-16164235)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 22q11.21(chr22:18917596-19027938)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 9q22.32(chr9:95465690-95468549)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3 AND See cases

description: Pathogenic


title: GRCh38/hg38 9p21.3(chr9:20380587-20478578)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3 AND See cases

description: Pathogenic


title: GRCh38/hg38 22q11.21(chr22:18902758-19012349)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp22.33(chrX:27245-270490)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 2q22.3(chr2:144461848-144665266)x3 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp22.31(chrX:6832908-6906043)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp21.1(chrX:32432957-32823439)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 1p31.3(chr1:66026161-66280387)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 1p31.3(chr1:65969909-66128534)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 10q23.1(chr10:82322554-82359096)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp22.31(chrX:8695720-8700128)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xp11.3(chrX:46456409-46476928)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 20q12(chr20:42560011-42713556)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1 AND See cases

description: Pathogenic


title: GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3 AND See cases

description: Pathogenic


title: GRCh38/hg38 4q32.1(chr4:157385121-157506916)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 5p15.2(chr5:11388771-11462289)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 2q24.3(chr2:166044436-166079787)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 5p14.3(chr5:21852725-21964074)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 10q21.3(chr10:66544198-66756820)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xp21.1(chrX:32720062-32797373)x2 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xq12(chrX:68274851-68352331)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x2 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xq23(chrX:114991761-115149960)x2 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xq25(chrX:123469532-123590128)x2 AND See cases

description: Uncertain significance


title: GRCh38/hg38 6q26(chr6:161841164-162004649)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 7p14.3(chr7:33130103-33146967)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 7q31.1(chr7:109678976-110483783)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 1p34.1(chr1:44838131-44841480)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 3p14.2(chr3:60460013-60532126)x1 AND See cases

description: Uncertain significance


title: GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Yq11.222(chrY:17473635-18712542)x2 AND See cases

description: Uncertain significance


title: NM_002529.4(NTRK1):c.1354+13_1634del AND Hereditary insensitivity to pain with anhidrosis

description: Pathogenic


title: NM_018076.5(ODAD2):c.382+995_936+335del AND Primary ciliary dyskinesia 23

description: Pathogenic


title: NC_000023.11:g.153696346_153701690del AND Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

description: Pathogenic


title: NC_000012.10:g.54711095_54731551del AND Diamond-Blackfan anemia 10

description: Pathogenic


title: NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del AND Congenital disorder of glycosylation type 1E

description: Pathogenic


title: NM_138395.4(MARS2):c.682_949del (p.Gly228fs) AND Spastic ataxia 3

description: Pathogenic


title: NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del AND Spastic ataxia 2

description: Pathogenic


title: NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del AND Craniofrontonasal syndrome

description: Pathogenic


title: NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10] AND Richieri Costa-Pereira syndrome

description: Pathogenic


title: NM_000277.2(PAH):c.1066_1067ins6 AND not provided

description: not provided


title: NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?) AND Atypical Rett syndrome

description: Pathogenic


title: GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x3 AND See cases

description: Uncertain significance


title: GRCh37/hg19 1q21.1(chr1:143646652-143908838)x1 AND See cases

value: Benign

description: Benign


title: GRCh38/hg38 1q21.2(chr1:148437320-148490103)x3 AND See cases

description: Benign


title: GRCh37/hg19 1q21.1(chr1:142604414-142642753)x3 AND See cases

description: Benign


title: GRCh38/hg38 1p36.32(chr1:2651321-2701929)x1 AND See cases

description: Benign


title: GRCh38/hg38 1q21.1(chr1:146073716-146244094)x3 AND See cases

description: Benign


title: GRCh38/hg38 1q21.3(chr1:151360648-151427484)x3 AND See cases

description: Benign


title: GRCh37/hg19 1q21.1(chr1:142604414-142642753)x1 AND See cases

description: Benign


title: GRCh38/hg38 1q43(chr1:238512952-238590128)x3 AND See cases

description: Benign


title: GRCh38/hg38 1p33(chr1:49493753-49583808)x1 AND See cases

description: Benign


title: GRCh38/hg38 1p36.32(chr1:2659405-2673815)x4 AND See cases

description: Benign


title: GRCh38/hg38 1p36.32(chr1:2651321-2701929)x3 AND See cases

description: Benign


title: GRCh38/hg38 2p22.3(chr2:35596740-35731555)x1 AND See cases

description: Benign


title: GRCh37/hg19 1q21.1(chr1:143504612-143540851)x3 AND See cases

description: Benign


title: GRCh38/hg38 1q21.2(chr1:148425519-148437320)x3 AND See cases

description: Benign


title: GRCh38/hg38 2p16.3(chr2:50822507-50894953)x1 AND See cases

description: Benign


title: GRCh38/hg38 3q29(chr3:195631406-195699004)x3 AND See cases

value: Benign/Likely benign

description: Benign/Likely benign


title: GRCh38/hg38 3p26.3(chr3:1798595-1880775)x3 AND See cases

description: Benign


title: GRCh38/hg38 3q12.3(chr3:102481295-102566368)x3 AND See cases

value: conflicting data from submitters

description: conflicting data from submitters


title: GRCh38/hg38 3p12.1(chr3:85408307-85566418)x1 AND See cases

description: Benign


title: GRCh38/hg38 3p14.2(chr3:60102627-60254729)x1 AND See cases

description: Benign


title: GRCh38/hg38 1p12(chr1:120014117-120092791)x3 AND See cases

description: Benign


title: GRCh38/hg38 3q29(chr3:195631406-195699004)x4 AND See cases

description: Benign


title: GRCh38/hg38 4p15.1(chr4:33519132-33716358)x3 AND See cases

description: Benign


title: GRCh38/hg38 1p33(chr1:49463753-49522404)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 4p16.3(chr4:4165045-4247526)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q35.3(chr5:181338808-181463112)x3 AND See cases

description: Benign


title: GRCh38/hg38 4q35.1(chr4:185717485-185738139)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q35.3(chr5:181356054-181398789)x1 AND See cases

description: Benign


title: GRCh38/hg38 3p24.3(chr3:22079119-22213537)x1 AND See cases

description: Benign


title: GRCh38/hg38 1q44(chr1:243786629-243870496)x1 AND See cases

description: Pathogenic


title: GRCh38/hg38 5q35.3(chr5:181338808-181448620)x3 AND See cases

description: Benign


title: GRCh38/hg38 1q31.1(chr1:187674895-187776567)x1 AND See cases

description: Benign


title: GRCh38/hg38 5p15.31(chr5:7422048-7449225)x3 AND See cases

description: Benign


title: GRCh38/hg38 6q27(chr6:170628371-170699009)x3 AND See cases

description: Benign


title: GRCh38/hg38 1p36.32(chr1:2659405-2673815)x3 AND See cases

description: Benign


title: GRCh38/hg38 2p22.1(chr2:39097156-39101653)x1 AND See cases

description: Benign


title: GRCh38/hg38 5p15.33(chr5:22149-163286)x3 AND See cases

description: Benign


title: GRCh38/hg38 6q16.3(chr6:104177975-104341827)x1 AND See cases

description: Benign


title: GRCh38/hg38 6p12.1(chr6:57052810-57085760)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 6q11.1-11.2(chr6:62566683-62638936)x3 AND See cases

description: Benign


title: GRCh38/hg38 2p24.3(chr2:13138650-13277869)x1 AND See cases

description: Benign


title: GRCh38/hg38 2p16.3(chr2:50822507-50839440)x1 AND See cases

description: Benign


title: GRCh38/hg38 2p22.3(chr2:35350936-35596740)x1 AND See cases

description: Benign


title: GRCh38/hg38 6q26(chr6:162449337-162512065)x1 AND See cases

description: Benign


title: GRCh38/hg38 6p12.1(chr6:57052810-57085760)x4 AND See cases

value: Likely benign

description: Likely benign


title: GRCh38/hg38 6q14.1(chr6:80863139-80990147)x3 AND See cases

description: Benign


title: GRCh38/hg38 3p26.3(chr3:427445-462035)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 3p26.3(chr3:1780588-1939069)x1 AND See cases

description: Benign


GRCh38/hg38 4p16.3(chr4:78578-117990)x3

title: GRCh38/hg38 4p16.3(chr4:78578-117990)x3 AND See cases

description: conflicting data from submitters


title: GRCh38/hg38 4q32.3(chr4:167400142-167555986)x3 AND See cases

description: Benign


title: GRCh38/hg38 4q35.2(chr4:189953302-190022219)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q35.3(chr5:181356054-181398789)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q35.3(chr5:181356054-181448620)x3 AND See cases

description: Benign


title: GRCh38/hg38 6p12.1(chr6:57052810-57085760)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 6q27(chr6:170628371-170716383)x3 AND See cases

description: Benign


title: GRCh38/hg38 7q31.31(chr7:119226617-119385676)x1 AND See cases

description: Benign


title: GRCh38/hg38 7q21.13(chr7:89941939-90066509)x1 AND See cases

description: Benign


title: GRCh38/hg38 6q16.1(chr6:93778112-93876782)x0 AND See cases

description: Likely benign


title: GRCh38/hg38 6q27(chr6:170628371-170674315)x3 AND See cases

description: Benign


title: GRCh38/hg38 7p12.1(chr7:53404348-53515432)x1 AND See cases

description: Benign


title: GRCh38/hg38 8p23.3(chr8:137572-178199)x3 AND See cases

description: Benign


title: GRCh38/hg38 7q36.2(chr7:153460303-153790178)x3 AND See cases

description: Benign


title: GRCh38/hg38 7q31.31(chr7:119226617-119385676)x3 AND See cases

description: Benign


title: GRCh38/hg38 7q31.33(chr7:125538149-126150923)x3 AND See cases

description: Benign


GRCh38/hg38 7p22.3(chr7:46494-65558)x3

title: GRCh38/hg38 7p22.3(chr7:46494-65558)x3 AND See cases

description: Benign


title: GRCh38/hg38 9p21.1(chr9:30424071-30520900)x1 AND See cases

description: Benign


title: GRCh38/hg38 9q34.3(chr9:135265814-135391712)x3 AND See cases

description: Benign


title: GRCh38/hg38 9p24.1(chr9:8065133-8187842)x1 AND See cases

description: Benign


title: GRCh38/hg38 8q23.3(chr8:113187763-113326162)x3 AND See cases

description: Benign


title: GRCh38/hg38 8p23.3(chr8:137572-178199)x1 AND See cases

description: Benign


title: GRCh37/hg19 8p23.3-23.2(chr8:2133991-2349876)x3 AND See cases

description: Benign


title: GRCh38/hg38 10q21.3(chr10:66719462-66839674)x1 AND See cases

description: Benign


GRCh38/hg38 8p23.3(chr8:90247-195465)x3

title: GRCh38/hg38 8p23.3(chr8:90247-195465)x3 AND See cases

description: Benign


title: GRCh38/hg38 8p22(chr8:16094502-16164176)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 10q25.1(chr10:105349304-105520966)x3 AND See cases

description: Benign


GRCh38/hg38 8p23.3(chr8:90247-178199)x3

title: GRCh38/hg38 8p23.3(chr8:90247-178199)x3 AND See cases

description: Benign


title: GRCh38/hg38 9p21.3-21.2(chr9:25527397-25616021)x1 AND See cases

description: Benign


title: GRCh38/hg38 9p24.1-23(chr9:8903382-9014802)x1 AND See cases

description: Benign


title: GRCh38/hg38 10q23.1(chr10:82377919-82510252)x1 AND See cases

description: Benign


title: GRCh38/hg38 9q34.3(chr9:138167115-138216026)x3 AND See cases

description: Benign


title: GRCh38/hg38 9p23(chr9:11927681-12007047)x1 AND See cases

description: Benign


title: GRCh38/hg38 9p21.3(chr9:25259015-25346914)x1 AND See cases

description: Benign


title: GRCh38/hg38 9p21.3(chr9:22212554-22326166)x1 AND See cases

description: Benign


title: GRCh38/hg38 9p21.1(chr9:28191463-28320733)x1 AND See cases

description: Benign


title: GRCh38/hg38 11q25(chr11:133676308-133756534)x1 AND See cases

description: Benign


title: GRCh38/hg38 9p23(chr9:10249116-10340720)x3 AND See cases

description: Benign


title: GRCh38/hg38 9q21.2(chr9:77828133-77845836)x1 AND See cases

description: Benign


title: GRCh38/hg38 9p23(chr9:11713632-11868524)x1 AND See cases

description: Benign


title: GRCh38/hg38 10p12.33(chr10:17839748-17920896)x3 AND See cases

description: Benign


title: GRCh38/hg38 10q11.23(chr10:50729367-50759170)x3 AND See cases

description: Benign


title: GRCh38/hg38 10q24.2(chr10:98907968-98937040)x1 AND See cases

description: Benign


title: GRCh38/hg38 10p12.33(chr10:17767524-17839747)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 10p12.33(chr10:17767524-17839747)x1 AND See cases

description: conflicting data from submitters


title: GRCh38/hg38 10p12.31(chr10:19157661-19521781)x1 AND See cases

description: Benign


title: GRCh38/hg38 11q14.1(chr11:80945608-81191865)x1 AND See cases

description: Benign


title: GRCh38/hg38 14q21.2(chr14:43387283-43754611)x4 AND See cases

description: Benign


title: GRCh38/hg38 14q24.2(chr14:72172189-72198910)x3 AND See cases

description: Benign


title: GRCh38/hg38 11q12.1(chr11:56555514-56584888)x1 AND See cases

description: Benign


title: GRCh38/hg38 12q14.3(chr12:66783512-66855222)x1 AND See cases

description: Benign


title: GRCh38/hg38 12q12(chr12:45273857-45388630)x1 AND See cases

description: Benign


title: GRCh38/hg38 12q14.3(chr12:66789696-66816559)x1 AND See cases

description: Benign


title: GRCh38/hg38 13q21.33(chr13:72252165-72443196)x1 AND See cases

description: Benign


title: GRCh37/hg19 13q11(chr13:19327344-19380812)x3 AND See cases

description: Benign


title: GRCh38/hg38 14q21.2(chr14:43387283-43754611)x3 AND See cases

description: Benign


title: GRCh38/hg38 15q26.1(chr15:93674817-93791360)x1 AND See cases

description: Benign


title: GRCh38/hg38 14q21.2(chr14:45352239-45510467)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 15q21.3(chr15:57363807-57456076)x3 AND See cases

description: Benign


title: GRCh38/hg38 15q24.2(chr15:75249521-75296694)x1 AND See cases

description: Benign


title: GRCh38/hg38 15q24.2(chr15:75260306-75296694)x3 AND See cases

description: Benign


title: GRCh38/hg38 16p13.3(chr16:22769-32412)x3 AND See cases

description: Benign


title: GRCh38/hg38 16p13.3(chr16:22769-32412)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 18p11.32(chr18:14316-69754)x4 AND See cases

description: Benign


title: GRCh38/hg38 19p13.3(chr19:91171-202952)x3 AND See cases

description: Benign


title: GRCh38/hg38 16p13.3(chr16:19193-32412)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 17p11.2(chr17:19601336-19632996)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 17p11.2(chr17:19601336-19632996)x0 AND See cases

description: Benign


title: GRCh38/hg38 19q13.2(chr19:40942916-41005044)x1 AND See cases

description: Benign


title: GRCh38/hg38 17p12(chr17:14464946-14519690)x3 AND See cases

description: Benign


title: GRCh38/hg38 17q11.2(chr17:27664946-27734947)x3 AND See cases

description: Benign


title: GRCh38/hg38 22q11.1(chr22:16786503-16809385)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 19p13.3(chr19:74459-113418)x3 AND See cases

description: Benign


title: GRCh38/hg38 18p11.32(chr18:14316-69754)x1 AND See cases

description: Benign


title: GRCh38/hg38 19p13.3(chr19:61112-113418)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq23(chrX:114983873-115160979)x2 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 18p11.32(chr18:14316-69754)x3 AND See cases

description: Benign


title: GRCh38/hg38 19p13.3(chr19:61112-168688)x3 AND See cases

description: Benign


title: GRCh38/hg38 19p13.3(chr19:61112-113418)x3 AND See cases

description: Benign


title: GRCh38/hg38 21q21.1(chr21:22354814-22461210)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.33(chrX:95161438-95207591)x1 AND See cases

description: Benign


title: GRCh38/hg38 19p13.3(chr19:74459-113418)x1 AND See cases

description: Benign


title: GRCh38/hg38 20q12(chr20:42438777-42478707)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xq28(chrX:149563232-149570094)x0 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:156006941-156020513)x4 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x4 AND See cases

description: Benign


title: GRCh38/hg38 21q21.1(chr21:18039705-18229810)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:156006941-156026127)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 Xq11.1(chrX:62712219-62927396)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:155492709-155547057)x3 AND See cases

description: Benign


title: GRCh37/hg19 22q11.1(chr22:16054691-17450189)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq27.3(chrX:144675423-144761682)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:155785125-155806648)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 Xq23(chrX:114983873-115160979)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq23(chrX:116810579-116913080)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xp21.1(chrX:32557406-32754551)x0 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp22.31(chrX:8098997-8216172)x2 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.21(chrY:11549246-11699355)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:156006941-156026127)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.33(chrX:95060190-95120944)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.221(chrY:13988013-13992240)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x0 AND See cases

description: Benign


title: GRCh38/hg38 Xp11.4-11.3(chrX:42471865-42582707)x1 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.21(chrY:11520247-11727435)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.33(chrX:95060190-95120944)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:126057696-126167905)x0 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x3 AND See cases

description: Uncertain significance


title: GRCh38/hg38 Yq11.21(chrY:11567346-11589758)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:123473778-123593934)x2 AND See cases

description: Pathogenic


title: GRCh38/hg38 Xp22.31(chrX:6531603-6536054)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq23(chrX:116810579-116913080)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:149563232-149570094)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 Xq23(chrX:117007957-117061129)x0 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.21(chrY:11520247-11589758)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq11.1(chrX:62712219-62927396)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xq23(chrX:117275824-117332780)x0 AND See cases

description: Benign


GRCh38/hg38 Yp11.32(chrY:20297-39498)x3

title: GRCh38/hg38 Yp11.32(chrY:20297-39498)x3 AND See cases

description: Benign


title: GRCh38/hg38 11q14.3(chr11:89898811-89923744)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:126057696-126167905)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.33(chrX:948314-1152369)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 Yq11.221(chrY:13988013-14282011)x2 AND See cases

description: Benign


title: GRCh38/hg38 6p22.3(chr6:19479716-19570142)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.221(chrY:15159149-15172469)x2 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.21(chrY:11466379-11728747)x2 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:126191293-126226243)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq27.1(chrX:140526750-140959316)x3 AND See cases

description: Uncertain significance


title: GRCh37/hg19 1q12-21.1(chr1:142594227-142642753)x1 AND See cases

description: Benign


title: GRCh38/hg38 9q31.2(chr9:105935122-106247033)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.21(chrY:11520247-11589758)x2 AND See cases

description: Benign


GRCh38/hg38 Yp11.32(chrY:20297-39498)x1

title: GRCh38/hg38 Yp11.32(chrY:20297-39498)x1 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.221(chrY:14050442-14076802)x2 AND See cases

description: Benign


title: GRCh38/hg38 Yq12(chrY:57158248-57190847)x1 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.223(chrY:21927773-22091977)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yp11.2(chrY:948314-1152369)x3 AND See cases

description: Benign


title: GRCh37/hg19 1q21.1(chr1:143134063-143284670)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:125968010-126153202)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 Yq11.221(chrY:13966017-14054658)x2 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.21(chrY:11567346-11589758)x2 AND See cases

description: Benign


title: GRCh38/hg38 14q21.3(chr14:48317570-48437083)x1 AND See cases

description: Benign


title: GRCh38/hg38 3q26.1(chr3:161717568-161802775)x1 AND See cases

description: Benign


title: GRCh38/hg38 20q13.12(chr20:45722054-45741776)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 10q21.3(chr10:66684077-66756761)x1 AND See cases

description: Benign


title: GRCh38/hg38 16p11.2(chr16:29714273-29727067)x1 AND See cases

description: Benign


title: GRCh38/hg38 19q13.41(chr19:52824788-52849347)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yp11.2(chrY:820336-858435)x1 AND See cases

description: Benign


title: GRCh38/hg38 3p12.2(chr3:82116407-82199434)x1 AND See cases

description: Benign


title: GRCh38/hg38 7q11.23(chr7:73324677-73352304)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:155971728-156004327)x1 AND See cases

description: Benign


title: GRCh38/hg38 13q31.3(chr13:91521052-91597567)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 19p13.3(chr19:61112-202952)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.31(chrX:91959316-91991062)x1 AND See cases

description: Benign


title: GRCh38/hg38 2q32.1(chr2:186215422-186309002)x1 AND See cases

description: Benign


title: GRCh38/hg38 3q29(chr3:195654549-195699004)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 3p24.2(chr3:26019191-26238094)x1 AND See cases

description: Benign


title: GRCh38/hg38 7p21.3(chr7:13116890-13262814)x1 AND See cases

description: Benign


title: GRCh38/hg38 13q14.3-21.1(chr13:54579853-54883578)x1 AND See cases

description: Benign


title: GRCh38/hg38 1q44(chr1:243520743-243531432)x3 AND See cases

description: Benign


title: GRCh38/hg38 15q26.1(chr15:93262301-93346577)x1 AND See cases

description: Benign


title: GRCh38/hg38 13q21.32(chr13:66753669-66774687)x1 AND See cases

description: Benign


GRCh38/hg38 8p23.3(chr8:66046-106814)x3

title: GRCh38/hg38 8p23.3(chr8:66046-106814)x3 AND See cases

description: Benign


title: GRCh38/hg38 15q26.3(chr15:101395679-101452091)x1 AND See cases

description: Benign


title: GRCh38/hg38 5q21.2-21.3(chr5:104996709-105137553)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:155327369-155348480)x4 AND See cases

description: Benign


title: GRCh38/hg38 3q26.1(chr3:164286799-164617339)x3 AND See cases

description: Benign


title: GRCh38/hg38 11q21-22.1(chr11:96937589-97402356)x3 AND See cases

description: Benign


title: GRCh38/hg38 21q21.2(chr21:23154277-23250240)x1 AND See cases

description: Benign


title: GRCh38/hg38 8p22(chr8:14714802-14757672)x1 AND See cases

description: Benign


title: GRCh38/hg38 8q24.3(chr8:139311194-139387068)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:154154679-154332155)x3 AND See cases

description: Benign


title: GRCh38/hg38 1p21.1(chr1:105517749-105715876)x1 AND See cases

description: Benign


title: GRCh38/hg38 8p23.2-23.1(chr8:6185679-6303909)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:125968010-126153202)x0 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.21(chrY:11901735-12368356)x2 AND See cases

description: Benign


title: GRCh38/hg38 14q12(chr14:27754886-27787614)x3 AND See cases

description: Benign


title: GRCh38/hg38 5p14.3(chr5:21288685-21377167)x3 AND See cases

description: Benign


title: GRCh38/hg38 2p24.3(chr2:14041885-14138712)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q15(chr5:97716206-97793969)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:155442674-155492709)x2 AND See cases

description: Benign


title: GRCh38/hg38 16p13.3(chr16:16203-32412)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:128196443-128438818)x0 AND See cases

description: Benign


title: GRCh38/hg38 4q35.2(chr4:190022219-190091407)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:155327369-155348480)x2 AND See cases

description: Benign


title: GRCh38/hg38 16p13.3(chr16:16203-32412)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 3p26.1(chr3:4052583-4189675)x1 AND See cases

description: Benign


title: GRCh38/hg38 5p15.2(chr5:12819940-13030492)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q35.3(chr5:181382803-181448620)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:155442674-155492709)x4 AND See cases

description: Benign


title: GRCh38/hg38 4q32.3(chr4:167910776-168056380)x1 AND See cases

description: Benign


title: GRCh38/hg38 12q23.1(chr12:99564637-99611495)x1 AND See cases

description: Benign


title: GRCh38/hg38 8p23.2(chr8:4867646-4891747)x1 AND See cases

description: Benign


title: GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 AND See cases

description: Benign


title: GRCh38/hg38 19p13.3(chr19:127601-138477)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yp11.2(chrY:2343433-2443358)x3 AND See cases

description: Benign


title: GRCh38/hg38 20q12(chr20:42596264-42683848)x1 AND See cases

description: Benign


title: GRCh38/hg38 9p23(chr9:11659296-11927681)x1 AND See cases

description: Benign


title: GRCh38/hg38 3p26.1(chr3:4149345-4282551)x1 AND See cases

description: Benign


title: GRCh38/hg38 8p23.2(chr8:4479463-4557063)x1 AND See cases

description: Benign


title: GRCh38/hg38 2p16.3(chr2:51087233-51240324)x1 AND See cases

description: Benign


title: GRCh38/hg38 5p14.3(chr5:21351725-21377167)x3 AND See cases

description: Benign


title: GRCh38/hg38 4q28.3(chr4:131834333-132170605)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.1(chrX:81947241-82059309)x3 AND See cases

description: Benign


title: GRCh38/hg38 8q21.11(chr8:72684692-72723399)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 9q34.3(chr9:138138686-138248277)x3 AND See cases

description: Benign


title: GRCh38/hg38 3p26.3(chr3:1880775-1920995)x1 AND See cases

description: Benign


title: GRCh38/hg38 4p15.33(chr4:12998655-13069906)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q21.1(chr5:99875465-99988993)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.31(chrX:87173532-87218675)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq28(chrX:155999253-156010898)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:127018314-127212010)x1 AND See cases

description: Benign


title: GRCh38/hg38 15q26.1(chr15:93607405-93674817)x1 AND See cases

description: Benign


title: GRCh38/hg38 14q21.1(chr14:40264666-40421739)x1 AND See cases

description: Benign


title: GRCh38/hg38 5q23.1(chr5:119693226-119799149)x3 AND See cases

description: Benign


title: GRCh38/hg38 14q21.3(chr14:48317570-48422383)x1 AND See cases

description: Benign


title: GRCh38/hg38 8q21.2(chr8:83820378-84135153)x3 AND See cases

description: Benign


title: GRCh38/hg38 5p12(chr5:45935267-46055335)x3 AND See cases

description: Benign


title: GRCh38/hg38 9p21.2(chr9:26274520-26405994)x1 AND See cases

description: Benign


title: GRCh38/hg38 1p12(chr1:120026791-120092791)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yq12(chrY:57185773-57197418)x3 AND See cases

description: Benign


title: GRCh38/hg38 4q35.2(chr4:189158084-189238295)x3 AND See cases

description: Benign


title: GRCh38/hg38 1q44(chr1:248128267-248176638)x1 AND See cases

description: Benign


title: GRCh38/hg38 15q24.3(chr15:77430520-77444701)x3 AND See cases

description: Benign


title: GRCh38/hg38 4q26(chr4:115992538-116176261)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:127416540-127573485)x0 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.1(chrX:81947241-82059309)x2 AND See cases

description: Benign


title: GRCh38/hg38 9q34.3(chr9:138179401-138231605)x3 AND See cases

description: Benign


title: GRCh38/hg38 19p12(chr19:20274508-20374052)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.33(chrX:2200415-2371604)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.1(chrX:84775973-84877015)x1 AND See cases

description: Benign


title: GRCh38/hg38 9p23(chr9:11573531-11713632)x1 AND See cases

description: Benign


title: GRCh38/hg38 12q14.1(chr12:59973621-60061113)x1 AND See cases

description: Benign


title: GRCh38/hg38 16p13.3(chr16:22569-32612)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.33(chrX:392358-426983)x1 AND See cases

description: Benign


GRCh38/hg38 8p23.3(chr8:90247-106814)x3

title: GRCh38/hg38 8p23.3(chr8:90247-106814)x3 AND See cases

description: Benign


title: GRCh38/hg38 3q29(chr3:198136564-198219662)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q35.3(chr5:181297242-181324872)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.33(chrX:1674587-1823312)x3 AND See cases

description: Benign


title: GRCh38/hg38 3q29(chr3:198094867-198168298)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q21.3(chr5:106443466-106530076)x1 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.222(chrY:18782131-18855730)x3 AND See cases

description: Benign


title: GRCh38/hg38 5q35.3(chr5:181425760-181448620)x3 AND See cases

description: Benign


title: GRCh38/hg38 7q36.2(chr7:154125945-154207385)x3 AND See cases

description: Benign


title: GRCh38/hg38 1q44(chr1:248128267-248176638)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq21.33(chrX:96474424-96590435)x1 AND See cases

description: Benign


title: GRCh38/hg38 16q23.1(chr16:78624328-78711823)x1 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.222(chrY:18464608-18538217)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.221(chrY:16162825-16443680)x2 AND See cases

description: Benign


title: GRCh38/hg38 1q44(chr1:247995637-248042653)x1 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 3p26.3(chr3:1755760-1984526)x1 AND See cases

description: Benign


title: GRCh37/hg19 10p12.33(chr10:17809523-18273895)x3 AND See cases

description: Benign


title: GRCh37/hg19 1q21.1(chr1:143428345-143532171)x3 AND See cases

description: Benign


title: GRCh38/hg38 11q12.1(chr11:55973062-56053540)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.33(chrX:1123219-1202712)x3 AND See cases

description: Benign


title: GRCh38/hg38 11q12.1(chr11:55973062-56053540)x1 AND See cases

description: Benign


title: GRCh38/hg38 7p12.1(chr7:52227381-52512934)x3 AND See cases

description: Benign


title: GRCh38/hg38 Xq23(chrX:113585463-113959540)x0 AND See cases

description: Benign


title: GRCh38/hg38 8p23.2(chr8:4132365-4211848)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq26.3(chrX:135159111-135196179)x2 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 Xp21.1(chrX:33577064-34060608)x2 AND See cases

description: Benign


title: GRCh38/hg38 3p26.3(chr3:684961-758641)x3 AND See cases

description: Benign


title: GRCh38/hg38 15q13.3(chr15:31823548-31856744)x3 AND See cases

description: Benign


title: GRCh38/hg38 2p11.2(chr2:88838079-89030495)x0 AND See cases

description: Benign


title: GRCh38/hg38 Xq25(chrX:125673312-125741448)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.33(chrX:610551-629902)x3 AND See cases

description: Benign


title: GRCh38/hg38 15q26.3(chr15:98010889-98142484)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xq27.3(chrX:145260580-145397053)x1 AND See cases

description: Benign


title: GRCh38/hg38 2q37.3(chr2:240976892-240979817)x3 AND See cases

description: Benign/Likely benign


title: GRCh38/hg38 13q21.1(chr13:57219220-57298363)x1 AND See cases

description: Benign


title: GRCh38/hg38 2q21.1(chr2:131310498-131508954)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yp11.2(chrY:1674587-1823312)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yq11.221(chrY:13879546-14054658)x2 AND See cases

description: Benign


title: GRCh38/hg38 9q34.3(chr9:138167115-138248277)x3 AND See cases

description: Benign


title: GRCh38/hg38 2p11.2(chr2:89200535-89228087)x3 AND See cases

description: Benign


title: GRCh38/hg38 6q26(chr6:162233059-162327256)x1 AND See cases

description: Benign


title: GRCh38/hg38 Xp22.33(chrX:1947725-2248818)x3 AND See cases

description: Benign


title: GRCh38/hg38 18p11.32(chr18:1664566-1783662)x3 AND See cases

description: Benign


title: GRCh38/hg38 1q41-42.11(chr1:223891383-223992662)x3 AND See cases

description: Benign


title: GRCh38/hg38 9p22.3(chr9:15310273-15378137)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 7q31.1(chr7:112092584-112144255)x1 AND See cases

description: Benign


title: GRCh38/hg38 12p12.3(chr12:16041251-16120196)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 Xq21.33(chrX:95499982-95801651)x1 AND See cases

description: Benign


title: GRCh38/hg38 10q21.3(chr10:66562861-66684077)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 Yp11.32(chrY:20297-233335)x3 AND See cases

description: Benign


title: GRCh38/hg38 14q21.1(chr14:41378491-41593828)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 Xp22.33(chrX:1055101-1420616)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 Yp11.2(chrY:1123219-1202712)x3 AND See cases

description: Benign


title: GRCh38/hg38 Yp11.2(chrY:1055101-1420616)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 12q24.33(chr12:132562876-132588256)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 Xp22.33(chrX:1691430-2443358)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 4q22.1(chr4:92535045-92633791)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 13q21.32(chr13:66733239-66832341)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 8q24.11(chr8:118190541-118231528)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 19p13.12(chr19:15631691-15692480)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 Xq13.3(chrX:75201035-75243922)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 Xq13.2(chrX:73008114-73093602)x2 AND See cases

description: Likely benign


title: GRCh38/hg38 Xp22.33(chrX:1202712-1228390)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 13q21.32(chr13:66641542-66825751)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 Xp21.1(chrX:37379580-37660460)x2 AND See cases

description: Likely benign


title: GRCh38/hg38 Xq27.3(chrX:145260580-145397053)x0 AND See cases

description: Likely benign


title: GRCh37/hg19 1q21.1(chr1:143753740-143984287)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 9q34.12(chr9:130600160-130655199)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 9p24.1(chr9:5352284-5426040)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 21q21.3(chr21:27839757-27986029)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 22q11.23(chr22:23859833-23930947)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 3p12.3(chr3:75721211-75742414)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 10q23.33(chr10:94647983-94760469)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 7p21.3(chr7:8636370-8767696)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 1p33(chr1:49662713-49727771)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 5p15.2(chr5:12819940-13227589)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 22q11.21(chr22:18907322-19022936)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 6q25.3(chr6:157523929-157547682)x3 AND See cases

description: Likely benign


title: GRCh38/hg38 8q11.21(chr8:50082603-50792866)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 9p24.1(chr9:6312800-6355675)x1 AND See cases

description: Likely benign


title: GRCh38/hg38 6p24.3-24.2(chr6:10564018-10629482)x1 AND See cases

description: Likely benign