| NM_017780.4(CHD7):c.8034A>G (p.Glu2678=) |
single nucleotide variant |
CHARGE association [RCV000526138]|Inborn genetic diseases [RCV002420389]|not provided [RCV001662539] |
Chr8:60862610 [GRCh38]
Chr8:61775169 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) |
single nucleotide variant |
CHARGE association [RCV000548285]|not provided [RCV000599382] |
Chr8:60850516 [GRCh38]
Chr8:61763075 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) |
single nucleotide variant |
CHARGE association [RCV000545867] |
Chr8:60845371 [GRCh38]
Chr8:61757930 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2086A>T (p.Lys696Ter) |
single nucleotide variant |
not provided [RCV000520570] |
Chr8:60781420 [GRCh38]
Chr8:61693979 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) |
single nucleotide variant |
CHARGE association [RCV000525041]|CHD7-related condition [RCV003935409]|not provided [RCV001683558] |
Chr8:60852683 [GRCh38]
Chr8:61765242 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.8067del (p.Lys2690fs) |
deletion |
CHARGE association [RCV000551048] |
Chr8:60862642 [GRCh38]
Chr8:61775201 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) |
single nucleotide variant |
CHARGE association [RCV000545037]|CHARGE association [RCV003483658]|CHD7-related condition [RCV003900143] |
Chr8:60856479 [GRCh38]
Chr8:61769038 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance|not provided |
| NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) |
single nucleotide variant |
CHARGE association [RCV000530377] |
Chr8:60828774 [GRCh38]
Chr8:61741333 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2613+5G>A |
single nucleotide variant |
CHARGE association [RCV001851572]|CHARGE association [RCV002490295]|Childhood onset hearing loss [RCV001328033]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000030871]|Inborn genetic diseases [RCV002512666]|not provided [RCV001564155] |
Chr8:60816506 [GRCh38]
Chr8:61729065 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely benign|uncertain significance |
| CHD7, IVS26AS, G-A, -7 |
single nucleotide variant |
CHARGE association [RCV000002103] |
Chr8:8q12.1 |
pathogenic |
| CHD7, TRP2332TER |
variation |
CHARGE association [RCV000002104] |
Chr8:8q12.1 |
pathogenic |
| NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) |
duplication |
CHARGE association [RCV000002107] |
Chr8:60852104..60852105 [GRCh38]
Chr8:61764663..61764664 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NG_007009.1:g.138884_149300del |
deletion |
CHARGE association [RCV000002109] |
Chr8:8q12.1 |
pathogenic |
| NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) |
insertion |
CHARGE association [RCV000002117] |
Chr8:60865621..60865622 [GRCh38]
Chr8:61778180..61778181 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.831G>T (p.Pro277=) |
single nucleotide variant |
CHARGE association [RCV001450187] |
Chr8:60742263 [GRCh38]
Chr8:61654822 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2499-269_2499-268insGT |
insertion |
not provided [RCV001564433] |
Chr8:60816117..60816118 [GRCh38]
Chr8:61728676..61728677 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg) |
single nucleotide variant |
CHARGE association [RCV001062397]|Inborn genetic diseases [RCV002533082]|not provided [RCV000728091] |
Chr8:60781201 [GRCh38]
Chr8:61693760 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5399A>C (p.Lys1800Thr) |
single nucleotide variant |
not provided [RCV000722727] |
Chr8:60849149 [GRCh38]
Chr8:61761708 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3998A>G (p.Tyr1333Cys) |
single nucleotide variant |
not provided [RCV000723102] |
Chr8:60836825 [GRCh38]
Chr8:61749384 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5971C>T (p.Gln1991Ter) |
single nucleotide variant |
not provided [RCV000728953] |
Chr8:60852574 [GRCh38]
Chr8:61765133 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) |
single nucleotide variant |
CHARGE association [RCV000527192]|Inborn genetic diseases [RCV002448651] |
Chr8:60865417 [GRCh38]
Chr8:61777976 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2239-20_2239-6del |
deletion |
CHARGE association [RCV001526459] |
Chr8:60800367..60800381 [GRCh38]
Chr8:61712926..61712940 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr) |
single nucleotide variant |
CHARGE association [RCV001857952]|CHD7-related condition [RCV003409746]|not provided [RCV000522694] |
Chr8:60823940 [GRCh38]
Chr8:61736499 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.760C>T (p.Gln254Ter) |
single nucleotide variant |
not provided [RCV000523004] |
Chr8:60742192 [GRCh38]
Chr8:61654751 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) |
duplication |
CHARGE association [RCV000578151] |
Chr8:60830403..60830404 [GRCh38]
Chr8:61742962..61742963 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.5210+2T>C |
single nucleotide variant |
CHARGE association [RCV000578175] |
Chr8:60845411 [GRCh38]
Chr8:61757970 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.3209del (p.Val1070fs) |
deletion |
CHARGE association [RCV000578186] |
Chr8:60823847 [GRCh38]
Chr8:61736406 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.1951_1952delinsT (p.Lys650_Lys651insTer) |
indel |
CHARGE association [RCV000758255] |
Chr8:60781285..60781286 [GRCh38]
Chr8:61693844..61693845 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) |
single nucleotide variant |
CHARGE association [RCV000002100]|CHARGE association [RCV000763598]|Hypogonadotropic hypogonadism [RCV002287316]|not provided [RCV000081828] |
Chr8:60822627 [GRCh38]
Chr8:61735186 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) |
single nucleotide variant |
CHARGE association [RCV000002101] |
Chr8:60830569 [GRCh38]
Chr8:61743128 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) |
single nucleotide variant |
CHARGE association [RCV000002102] |
Chr8:60850506 [GRCh38]
Chr8:61763065 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) |
single nucleotide variant |
CHARGE association [RCV000002105] |
Chr8:60855993 [GRCh38]
Chr8:61768552 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) |
single nucleotide variant |
CHARGE association [RCV000002106] |
Chr8:60836105 [GRCh38]
Chr8:61748664 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1666-3238A>G |
single nucleotide variant |
Scoliosis, isolated, susceptibility to, 3 [RCV000002108] |
Chr8:60777762 [GRCh38]
Chr8:61690321 [GRCh37]
Chr8:8q12.2 |
risk factor|uncertain significance |
| NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) |
single nucleotide variant |
CHARGE association [RCV000002110] |
Chr8:60853047 [GRCh38]
Chr8:61765606 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) |
single nucleotide variant |
CHARGE association [RCV000002111]|Hypogonadotropic hypogonadism 5 without anosmia [RCV000030798] |
Chr8:60816389 [GRCh38]
Chr8:61728948 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2442+5G>C |
single nucleotide variant |
CHARGE association [RCV000002113]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000002114] |
Chr8:60801598 [GRCh38]
Chr8:61714157 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.164A>G (p.His55Arg) |
single nucleotide variant |
CHARGE association [RCV003497830]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000002116] |
Chr8:60741596 [GRCh38]
Chr8:61654155 [GRCh37]
Chr8:8q12.2 |
pathogenic|benign |
| NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) |
single nucleotide variant |
CHARGE association [RCV000002118]|not provided [RCV000122607] |
Chr8:60841997 [GRCh38]
Chr8:61754556 [GRCh37]
Chr8:8q12.2 |
pathogenic|not provided |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 |
copy number gain |
See cases [RCV000053653] |
Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1 |
copy number loss |
See cases [RCV000054241] |
Chr8:56925812..61691859 [GRCh38]
Chr8:57838371..62604418 [GRCh37]
Chr8:58000925..62766972 [NCBI36]
Chr8:8q12.1-12.3 |
pathogenic |
| NM_017780.4(CHD7):c.72C>T (p.Leu24=) |
single nucleotide variant |
CHARGE association [RCV001491387]|not provided [RCV003430658] |
Chr8:60741504 [GRCh38]
Chr8:61654063 [GRCh37]
Chr8:61816617 [NCBI36]
Chr8:8q12.2 |
likely benign|not provided |
| NM_017780.3(CHD7):c.2422A>G (p.Ser808Gly) |
single nucleotide variant |
Malignant melanoma [RCV000068358] |
Chr8:60801573 [GRCh38]
Chr8:61714132 [GRCh37]
Chr8:61876686 [NCBI36]
Chr8:8q12.2 |
not provided |
| NM_017780.4(CHD7):c.1294del (p.His432fs) |
deletion |
CHARGE association [RCV000659295] |
Chr8:60742723 [GRCh38]
Chr8:61655282 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.3(CHD7):c.2239-2518A>G |
single nucleotide variant |
Lung cancer [RCV000107567] |
Chr8:60797870 [GRCh38]
Chr8:61710429 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.3(CHD7):c.7609-80G>A |
single nucleotide variant |
Lung cancer [RCV000107568] |
Chr8:60860824 [GRCh38]
Chr8:61773383 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5210+3A>G |
single nucleotide variant |
CHARGE association [RCV000659299] |
Chr8:60845412 [GRCh38]
Chr8:61757971 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.8063_8064del (p.Ile2688fs) |
microsatellite |
not provided [RCV000657564] |
Chr8:60862636..60862637 [GRCh38]
Chr8:61775195..61775196 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) |
duplication |
CHARGE association [RCV000659304] |
Chr8:60865677..60865678 [GRCh38]
Chr8:61778236..61778237 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5607+1G>A |
single nucleotide variant |
CHARGE association [RCV000659300]|not provided [RCV002249389] |
Chr8:60851105 [GRCh38]
Chr8:61763664 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.1018A>G (p.Met340Val) |
single nucleotide variant |
CHARGE association [RCV000258102]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000328105]|Inborn genetic diseases [RCV002313797]|not provided [RCV000434714]|not specified [RCV000081818] |
Chr8:60742450 [GRCh38]
Chr8:61655009 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.1419G>C (p.Gly473=) |
single nucleotide variant |
CHARGE association [RCV000340199]|CHARGE association [RCV002490717]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000373805]|Inborn genetic diseases [RCV002311661]|not provided [RCV001534229]|not specified [RCV000081819] |
Chr8:60742851 [GRCh38]
Chr8:61655410 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.156A>G (p.Pro52=) |
single nucleotide variant |
CHARGE association [RCV001453889]|not provided [RCV000081820] |
Chr8:60741588 [GRCh38]
Chr8:61654147 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) |
duplication |
CHARGE association [RCV000233607]|Hypogonadism with anosmia [RCV000266990]|Inborn genetic diseases [RCV002313798]|not provided [RCV000514792]|not specified [RCV000081821] |
Chr8:60781383..60781384 [GRCh38]
Chr8:61693942..61693943 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.2124T>C (p.Ser708=) |
single nucleotide variant |
CHARGE association [RCV000227387]|CHARGE association [RCV002498431]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000278876]|Inborn genetic diseases [RCV002311662]|not provided [RCV001711249]|not specified [RCV000081822] |
Chr8:60795013 [GRCh38]
Chr8:61707572 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.216T>C (p.Tyr72=) |
single nucleotide variant |
CHARGE association [RCV000145656]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000290994]|Inborn genetic diseases [RCV002311663]|not provided [RCV000857583]|not specified [RCV000081823] |
Chr8:60741648 [GRCh38]
Chr8:61654207 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) |
single nucleotide variant |
CHARGE association [RCV001037374]|Inborn genetic diseases [RCV002426644]|not provided [RCV000081824] |
Chr8:60795083 [GRCh38]
Chr8:61707642 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) |
single nucleotide variant |
CHARGE association [RCV000796849]|not provided [RCV000081825] |
Chr8:60741709 [GRCh38]
Chr8:61654268 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) |
single nucleotide variant |
CHARGE association [RCV000763186]|CHARGE association [RCV003155070]|not provided [RCV000385062] |
Chr8:60822027 [GRCh38]
Chr8:61734586 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) |
single nucleotide variant |
CHARGE association [RCV000227557]|CHARGE association [RCV002477239]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000402699]|Inborn genetic diseases [RCV002311664]|not provided [RCV000711193]|not specified [RCV000081827] |
Chr8:60741739 [GRCh38]
Chr8:61654298 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.309G>A (p.Ser103=) |
single nucleotide variant |
CHARGE association [RCV001081291]|CHARGE association [RCV002477240]|Inborn genetic diseases [RCV002311665]|not provided [RCV000586712]|not specified [RCV000081829] |
Chr8:60741741 [GRCh38]
Chr8:61654300 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.3202-5T>C |
single nucleotide variant |
CHARGE association [RCV000230309]|CHARGE association [RCV002505000]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160794]|Inborn genetic diseases [RCV002311666]|not provided [RCV001705766]|not specified [RCV000081830] |
Chr8:60823835 [GRCh38]
Chr8:61736394 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.331C>T (p.Pro111Ser) |
single nucleotide variant |
CHARGE association [RCV001367760]|not provided [RCV000081831] |
Chr8:60741763 [GRCh38]
Chr8:61654322 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) |
single nucleotide variant |
CHARGE association [RCV001362262]|CHARGE association [RCV002490718]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000346766]|Inborn genetic diseases [RCV002453404]|not provided [RCV000416000] |
Chr8:60824004 [GRCh38]
Chr8:61736563 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3868G>C (p.Gly1290Arg) |
single nucleotide variant |
not provided [RCV000081833] |
Chr8:60836162 [GRCh38]
Chr8:61748721 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) |
single nucleotide variant |
CHARGE association [RCV000766021]|CHARGE association [RCV000791508]|not provided [RCV000081834] |
Chr8:60836243 [GRCh38]
Chr8:61748802 [GRCh37]
Chr8:8q12.2 |
drug response|uncertain significance |
| NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) |
deletion |
CHARGE association [RCV001040538]|not provided [RCV000365843] |
Chr8:60838100..60838101 [GRCh38]
Chr8:61750659..61750660 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) |
single nucleotide variant |
CHARGE association [RCV001080364]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162412]|Inborn genetic diseases [RCV002326798]|not provided [RCV000723591]|not specified [RCV000251370] |
Chr8:60838159 [GRCh38]
Chr8:61750718 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) |
single nucleotide variant |
CHARGE association [RCV001084599]|CHD7-related condition [RCV003974981]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164457]|Inborn genetic diseases [RCV002313799]|not provided [RCV000081837] |
Chr8:60844864 [GRCh38]
Chr8:61757423 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5051-4C>T |
single nucleotide variant |
CHARGE association [RCV000204649]|CHARGE association [RCV002490719]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000270371]|Inborn genetic diseases [RCV002311667]|not provided [RCV001573056]|not specified [RCV000081838] |
Chr8:60845246 [GRCh38]
Chr8:61757805 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.5181C>G (p.Tyr1727Ter) |
single nucleotide variant |
not provided [RCV000352992] |
Chr8:60845380 [GRCh38]
Chr8:61757939 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) |
single nucleotide variant |
CHARGE association [RCV000320920]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000380216]|Inborn genetic diseases [RCV002311668]|not provided [RCV001705767]|not specified [RCV000081840] |
Chr8:60849057 [GRCh38]
Chr8:61761616 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.5405-7G>A |
single nucleotide variant |
CHARGE association [RCV000176678]|CHD7-related condition [RCV003407463]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001004923]|Inborn genetic diseases [RCV001265704]|not provided [RCV000081841] |
Chr8:60850486 [GRCh38]
Chr8:61763045 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) |
single nucleotide variant |
CHARGE association [RCV000362217]|CHARGE association [RCV002490720]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000272173]|Inborn genetic diseases [RCV002313800]|not provided [RCV001705768]|not specified [RCV000081842] |
Chr8:60852107 [GRCh38]
Chr8:61764666 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.5895-1G>C |
single nucleotide variant |
not provided [RCV000307489] |
Chr8:60852497 [GRCh38]
Chr8:61765056 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6103+6T>C |
single nucleotide variant |
CHARGE association [RCV001084600]|CHD7-related condition [RCV003964937]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160907]|Inborn genetic diseases [RCV002513838]|not provided [RCV000081844] |
Chr8:60852712 [GRCh38]
Chr8:61765271 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6103+8C>T |
single nucleotide variant |
CHARGE association [RCV000324859]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000264969]|not provided [RCV000711194]|not specified [RCV000081845] |
Chr8:60852714 [GRCh38]
Chr8:61765273 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) |
single nucleotide variant |
CHARGE association [RCV000261244]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000379455]|Inborn genetic diseases [RCV002311669]|not provided [RCV000857516]|not specified [RCV000081846] |
Chr8:60852836 [GRCh38]
Chr8:61765395 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) |
single nucleotide variant |
CHARGE association [RCV001081333]|CHD7-related condition [RCV003915091]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162516]|Inborn genetic diseases [RCV002362730]|not provided [RCV000723651]|not specified [RCV003230398] |
Chr8:60852941 [GRCh38]
Chr8:61765500 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) |
single nucleotide variant |
CHARGE association [RCV000405798]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000351247]|Inborn genetic diseases [RCV002311670]|not provided [RCV000711196]|not specified [RCV000081848] |
Chr8:60853001 [GRCh38]
Chr8:61765560 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) |
single nucleotide variant |
CHARGE association [RCV000347837]|CHARGE association [RCV002483146]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000306969]|Inborn genetic diseases [RCV002311671]|not provided [RCV001536601]|not specified [RCV000081849] |
Chr8:60853007 [GRCh38]
Chr8:61765566 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) |
single nucleotide variant |
CHARGE association [RCV000262791]|CHD7-related condition [RCV003952522]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000317924]|Inborn genetic diseases [RCV002362731]|not provided [RCV000415800]|not specified [RCV000081850] |
Chr8:60853238 [GRCh38]
Chr8:61765797 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.657C>T (p.Gly219=) |
single nucleotide variant |
CHARGE association [RCV000145687]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000395599]|Inborn genetic diseases [RCV002311672]|not provided [RCV000590132]|not specified [RCV000081851] |
Chr8:60742089 [GRCh38]
Chr8:61654648 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) |
single nucleotide variant |
CHARGE association [RCV000470470]|CHARGE association [RCV002483147]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164555]|Inborn genetic diseases [RCV002311673]|not provided [RCV001705769]|not specified [RCV000248912] |
Chr8:60853385 [GRCh38]
Chr8:61765944 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) |
single nucleotide variant |
CHARGE association [RCV001087990]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164557]|Inborn genetic diseases [RCV002313801]|not provided [RCV000081853] |
Chr8:60853436 [GRCh38]
Chr8:61765995 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) |
single nucleotide variant |
CHARGE association [RCV000228273]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000386574]|Inborn genetic diseases [RCV002313802]|not provided [RCV000755930]|not specified [RCV000081854] |
Chr8:60853463 [GRCh38]
Chr8:61766022 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) |
single nucleotide variant |
CHARGE association [RCV000634424]|not provided [RCV000081855]|not specified [RCV001818247] |
Chr8:60856123 [GRCh38]
Chr8:61768682 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) |
single nucleotide variant |
CHARGE association [RCV000405594]|CHD7-related condition [RCV003952523]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000297566]|Inborn genetic diseases [RCV002313803]|not provided [RCV001705770]|not specified [RCV000081856] |
Chr8:60856558 [GRCh38]
Chr8:61769117 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) |
single nucleotide variant |
CHARGE association [RCV000357151]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000395612]|Inborn genetic diseases [RCV002311674]|not provided [RCV001573427]|not specified [RCV000081857] |
Chr8:60856636 [GRCh38]
Chr8:61769195 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) |
single nucleotide variant |
CHARGE association [RCV001057160]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161018]|not provided [RCV000081858] |
Chr8:60856727 [GRCh38]
Chr8:61769286 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) |
single nucleotide variant |
CHARGE association [RCV001854435]|CHARGE association [RCV002483148]|Inborn genetic diseases [RCV002390240]|not provided [RCV000081859] |
Chr8:60856743 [GRCh38]
Chr8:61769302 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) |
single nucleotide variant |
CHARGE association [RCV000282690]|CHD7-related condition [RCV003925074]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000349365]|Inborn genetic diseases [RCV002311675]|not provided [RCV000590628]|not specified [RCV000145699] |
Chr8:60865355 [GRCh38]
Chr8:61777914 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) |
single nucleotide variant |
CHARGE association [RCV000634457]|Inborn genetic diseases [RCV002316261]|not provided [RCV001610379]|not specified [RCV000081861] |
Chr8:60865378 [GRCh38]
Chr8:61777937 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) |
single nucleotide variant |
CHARGE association [RCV000258075]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000260614]|Inborn genetic diseases [RCV002313804]|not provided [RCV000514783]|not specified [RCV000081862] |
Chr8:60865889 [GRCh38]
Chr8:61778448 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.7711G>A (p.Val2571Ile) |
single nucleotide variant |
CHARGE association [RCV001367844] |
Chr8:60861006 [GRCh38]
Chr8:61773565 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) |
single nucleotide variant |
CHARGE association [RCV001298199]|CHD7-related condition [RCV003927570]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000406540]|Inborn genetic diseases [RCV002517651]|not provided [RCV001668327]|not specified [RCV000171413] |
Chr8:60830412 [GRCh38]
Chr8:61742971 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|benign|likely benign|uncertain significance |
| GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1 |
copy number loss |
See cases [RCV000133649] |
Chr8:60816393..65117062 [GRCh38]
Chr8:61728952..66029297 [GRCh37]
Chr8:61891506..66191851 [NCBI36]
Chr8:8q12.2-13.1 |
pathogenic |
| NM_017780.4(CHD7):c.8087del (p.Pro2696fs) |
deletion |
CHARGE association [RCV000659303] |
Chr8:60865025 [GRCh38]
Chr8:61777584 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) |
insertion |
CHARGE association [RCV000659297] |
Chr8:60743029..60743030 [GRCh38]
Chr8:61655588..61655589 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) |
single nucleotide variant |
CHARGE association [RCV000659302] |
Chr8:60860943 [GRCh38]
Chr8:61773502 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) |
single nucleotide variant |
CHARGE association [RCV000538270]|Inborn genetic diseases [RCV002317008]|not provided [RCV001721106]|not specified [RCV000174934] |
Chr8:60830496 [GRCh38]
Chr8:61743055 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| Single allele |
single nucleotide variant |
not provided [RCV000171535] |
Chr8:61654061 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) |
single nucleotide variant |
CHARGE association [RCV000175883]|Inborn genetic diseases [RCV002336428]|not provided [RCV000351604]|not specified [RCV000506348] |
Chr8:60741901 [GRCh38]
Chr8:61654460 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.712G>A (p.Val238Met) |
single nucleotide variant |
CHARGE association [RCV000532435]|not provided [RCV001706125]|not specified [RCV000175888] |
Chr8:60742144 [GRCh38]
Chr8:61654703 [GRCh37]
Chr8:8q12.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.1224_1234del (p.Pro409fs) |
deletion |
not provided [RCV000175891] |
Chr8:60742653..60742663 [GRCh38]
Chr8:61655212..61655222 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1536A>G (p.Pro512=) |
single nucleotide variant |
CHARGE association [RCV000525109]|CHARGE association [RCV002505254]|CHD7-related condition [RCV003917632]|Inborn genetic diseases [RCV002317016]|not specified [RCV000175892] |
Chr8:60742968 [GRCh38]
Chr8:61655527 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.1465C>T (p.Gln489Ter) |
single nucleotide variant |
not provided [RCV000254940] |
Chr8:60742897 [GRCh38]
Chr8:61655456 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6529G>T (p.Glu2177Ter) |
single nucleotide variant |
not provided [RCV000177569] |
Chr8:60853254 [GRCh38]
Chr8:61765813 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) |
single nucleotide variant |
CHARGE association [RCV000177749]|not provided [RCV000724065] |
Chr8:60856033 [GRCh38]
Chr8:61768592 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) |
single nucleotide variant |
CHARGE association [RCV000286917]|CHARGE association [RCV002478587]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000341824]|Inborn genetic diseases [RCV002314634]|not provided [RCV000755929]|not specified [RCV000177801] |
Chr8:60856489 [GRCh38]
Chr8:61769048 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.8453_8463dup (p.Ala2822fs) |
duplication |
not provided [RCV000177948] |
Chr8:60865390..60865391 [GRCh38]
Chr8:61777949..61777950 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5167dup (p.Gln1723fs) |
duplication |
Inborn genetic diseases [RCV000190754] |
Chr8:60845364..60845365 [GRCh38]
Chr8:61757923..61757924 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) |
single nucleotide variant |
CHARGE association [RCV001291785]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001291786] |
Chr8:60856783 [GRCh38]
Chr8:61769342 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.3492A>G (p.Gln1164=) |
single nucleotide variant |
CHARGE association [RCV001312286] |
Chr8:60828776 [GRCh38]
Chr8:61741335 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2751G>A (p.Thr917=) |
single nucleotide variant |
CHARGE association [RCV001088935]|Inborn genetic diseases [RCV002433763]|not provided [RCV000724555]|not specified [RCV001288916] |
Chr8:60821843 [GRCh38]
Chr8:61734402 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000256374] |
Chr8:60821823 [GRCh38]
Chr8:61734382 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| Single allele |
insertion |
not specified [RCV000153007] |
Chr8:61693951..61693952 [GRCh37] |
benign |
| NM_017780.4(CHD7):c.2377-3dup |
duplication |
CHARGE association [RCV001516695]|Inborn genetic diseases [RCV002312987]|not provided [RCV000434048]|not specified [RCV000153008] |
Chr8:60801516..60801517 [GRCh38]
Chr8:61714075..61714076 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) |
single nucleotide variant |
CHARGE association [RCV000766020]|CHARGE association [RCV001212532]|not provided [RCV000174785] |
Chr8:60828747 [GRCh38]
Chr8:61741306 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) |
single nucleotide variant |
CHARGE association [RCV000145652] |
Chr8:60742678 [GRCh38]
Chr8:61655237 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) |
single nucleotide variant |
CHARGE association [RCV000145653]|not provided [RCV000413726] |
Chr8:60742912 [GRCh38]
Chr8:61655471 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1512A>G (p.Gln504=) |
single nucleotide variant |
CHARGE association [RCV000145654] |
Chr8:60742944 [GRCh38]
Chr8:61655503 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.191_194del (p.Thr64fs) |
microsatellite |
CHARGE association [RCV000145655] |
Chr8:60741619..60741622 [GRCh38]
Chr8:61654178..61654181 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) |
single nucleotide variant |
CHARGE association [RCV000464845]|Inborn genetic diseases [RCV002312631]|not provided [RCV001705943]|not specified [RCV000145657] |
Chr8:60795119 [GRCh38]
Chr8:61707678 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.2613+1G>A |
single nucleotide variant |
CHARGE association [RCV000145658]|Inborn genetic diseases [RCV002426702] |
Chr8:60816502 [GRCh38]
Chr8:61729061 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) |
single nucleotide variant |
CHARGE association [RCV000145659] |
Chr8:60820036 [GRCh38]
Chr8:61732595 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) |
single nucleotide variant |
CHARGE association [RCV000145660] |
Chr8:60821907 [GRCh38]
Chr8:61734466 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) |
single nucleotide variant |
CHARGE association [RCV000145661]|Inborn genetic diseases [RCV002433629] |
Chr8:60821922 [GRCh38]
Chr8:61734481 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) |
deletion |
CHARGE association [RCV000145662]|not provided [RCV000443611] |
Chr8:60822093..60822094 [GRCh38]
Chr8:61734652..61734653 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3126C>T (p.Asn1042=) |
single nucleotide variant |
CHARGE association [RCV001458139]|not specified [RCV000145663] |
Chr8:60822671 [GRCh38]
Chr8:61735230 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.3201+3A>T |
single nucleotide variant |
CHARGE association [RCV000145664] |
Chr8:60822749 [GRCh38]
Chr8:61735308 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3408A>G (p.Pro1136=) |
single nucleotide variant |
not specified [RCV000145665] |
Chr8:60828692 [GRCh38]
Chr8:61741251 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.350G>A (p.Gly117Asp) |
single nucleotide variant |
not specified [RCV000145666] |
Chr8:60741782 [GRCh38]
Chr8:61654341 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3522+13T>A |
single nucleotide variant |
CHARGE association [RCV001515524]|CHARGE association [RCV002492528]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160796]|not provided [RCV001610442]|not specified [RCV000145667] |
Chr8:60828819 [GRCh38]
Chr8:61741378 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) |
single nucleotide variant |
CHARGE association [RCV000145668]|Inborn genetic diseases [RCV003162603] |
Chr8:60741793 [GRCh38]
Chr8:61654352 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) |
single nucleotide variant |
CHARGE association [RCV000145669] |
Chr8:60837800 [GRCh38]
Chr8:61750359 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4353+3A>G |
single nucleotide variant |
CHARGE association [RCV000145670]|not provided [RCV000598769] |
Chr8:60837838 [GRCh38]
Chr8:61750397 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) |
single nucleotide variant |
CHARGE association [RCV000145671]|Inborn genetic diseases [RCV002326855]|not provided [RCV000627201] |
Chr8:60838202 [GRCh38]
Chr8:61750761 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4534-13T>G |
single nucleotide variant |
CHARGE association [RCV000145672]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000353027]|not provided [RCV000514439]|not specified [RCV000176104] |
Chr8:60841631 [GRCh38]
Chr8:61754190 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) |
deletion |
CHARGE association [RCV000145673] |
Chr8:60841743 [GRCh38]
Chr8:61754302 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) |
single nucleotide variant |
CHARGE association [RCV000145674] |
Chr8:60841962 [GRCh38]
Chr8:61754521 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5051-4C>A |
single nucleotide variant |
not specified [RCV000145675] |
Chr8:60845246 [GRCh38]
Chr8:61757805 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) |
single nucleotide variant |
CHARGE association [RCV000145676] |
Chr8:60850538 [GRCh38]
Chr8:61763097 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) |
single nucleotide variant |
CHARGE association [RCV000145677]|not provided [RCV000275479] |
Chr8:60850546 [GRCh38]
Chr8:61763105 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) |
single nucleotide variant |
CHARGE association [RCV000145678] |
Chr8:60851048 [GRCh38]
Chr8:61763607 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5666-2A>C |
single nucleotide variant |
CHARGE association [RCV000145679] |
Chr8:60852017 [GRCh38]
Chr8:61764576 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) |
single nucleotide variant |
CHARGE association [RCV000145680]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160905] |
Chr8:60852212 [GRCh38]
Chr8:61764771 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) |
single nucleotide variant |
CHARGE association [RCV000350478]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000281386]|Inborn genetic diseases [RCV002312632]|not provided [RCV000711195]|not specified [RCV000145681] |
Chr8:60852860 [GRCh38]
Chr8:61765419 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) |
single nucleotide variant |
CHARGE association [RCV000145682]|CHARGE association [RCV000763601]|not provided [RCV000389698] |
Chr8:60852882 [GRCh38]
Chr8:61765441 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) |
single nucleotide variant |
CHARGE association [RCV000145683]|CHD7-related condition [RCV003917441]|Hearing impairment [RCV001263285]|not provided [RCV001555163] |
Chr8:60852975 [GRCh38]
Chr8:61765534 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) |
single nucleotide variant |
CHARGE association [RCV000145684] |
Chr8:60853012 [GRCh38]
Chr8:61765571 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) |
single nucleotide variant |
CHARGE association [RCV000145685] |
Chr8:60853081 [GRCh38]
Chr8:61765640 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) |
single nucleotide variant |
CHARGE association [RCV000458054]|Inborn genetic diseases [RCV002312633]|not specified [RCV000145686] |
Chr8:60853203 [GRCh38]
Chr8:61765762 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.6843T>G (p.Asp2281Glu) |
single nucleotide variant |
not specified [RCV000145688] |
Chr8:60854430 [GRCh38]
Chr8:61766989 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) |
single nucleotide variant |
CHARGE association [RCV000145689]|CHD7-related disorder [RCV003595868]|not provided [RCV002255132] |
Chr8:60854437 [GRCh38]
Chr8:61766996 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) |
single nucleotide variant |
CHARGE association [RCV000145690]|not provided [RCV000760307]|not specified [RCV001001999] |
Chr8:60856532 [GRCh38]
Chr8:61769091 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7294G>T (p.Val2432Leu) |
single nucleotide variant |
not specified [RCV000145691] |
Chr8:60856574 [GRCh38]
Chr8:61769133 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs) |
microsatellite |
CHARGE association [RCV000145692] |
Chr8:60856660..60856663 [GRCh38]
Chr8:61769219..61769222 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) |
single nucleotide variant |
Amenorrhea [RCV001849320]|CHARGE association [RCV000203938]|CHARGE association [RCV002498662]|CHD7-related condition [RCV003891676]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000677330]|Inborn genetic diseases [RCV002312634]|not provided [RCV001528239]|not specified [RCV000145693] |
Chr8:60856859 [GRCh38]
Chr8:61769418 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) |
single nucleotide variant |
CHARGE association [RCV000145694]|Inborn genetic diseases [RCV002312635]|not specified [RCV000249926] |
Chr8:60856870 [GRCh38]
Chr8:61769429 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) |
single nucleotide variant |
CHARGE association [RCV000145695]|Inborn genetic diseases [RCV002408646]|not provided [RCV000726423]|not specified [RCV000253057] |
Chr8:60862213 [GRCh38]
Chr8:61774772 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) |
single nucleotide variant |
CHARGE association [RCV000145696]|CHD7-related condition [RCV003407563]|not provided [RCV000317612] |
Chr8:60862256 [GRCh38]
Chr8:61774815 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) |
single nucleotide variant |
CHARGE association [RCV000145697]|Inborn genetic diseases [RCV001266191]|not provided [RCV000578500] |
Chr8:60862322 [GRCh38]
Chr8:61774881 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) |
single nucleotide variant |
CHARGE association [RCV000145698] |
Chr8:60862631 [GRCh38]
Chr8:61775190 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) |
single nucleotide variant |
CHARGE association [RCV001444348]|CHARGE association [RCV002492529]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159743]|Inborn genetic diseases [RCV002444601]|not provided [RCV001548437]|not specified [RCV000145700] |
Chr8:60865600 [GRCh38]
Chr8:61778159 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.1665+34G>A |
single nucleotide variant |
CHARGE association [RCV001579197]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001579198]|not provided [RCV001618295]|not specified [RCV000145701] |
Chr8:60743131 [GRCh38]
Chr8:61655690 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.2238+39G>A |
single nucleotide variant |
CHARGE association [RCV001579199]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001579200]|not provided [RCV001636683]|not specified [RCV000145702] |
Chr8:60795166 [GRCh38]
Chr8:61707725 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.2614-45A>G |
single nucleotide variant |
CHARGE association [RCV001579203]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001579204]|not provided [RCV001610443]|not specified [RCV000145703] |
Chr8:60819962 [GRCh38]
Chr8:61732521 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.4533+46A>G |
single nucleotide variant |
CHARGE association [RCV001579205]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001579206]|not provided [RCV001711401]|not specified [RCV000145704] |
Chr8:60838301 [GRCh38]
Chr8:61750860 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) |
single nucleotide variant |
CHARGE association [RCV000988062]|CHARGE association [RCV002498663]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159328]|Inborn genetic diseases [RCV002316925]|not provided [RCV001705944]|not specified [RCV000145705] |
Chr8:60742288 [GRCh38]
Chr8:61654847 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) |
single nucleotide variant |
CHARGE association [RCV000472198]|CHARGE association [RCV002492530]|Inborn genetic diseases [RCV002316926]|not provided [RCV001640180]|not specified [RCV000145706] |
Chr8:60865729 [GRCh38]
Chr8:61778288 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile) |
single nucleotide variant |
CHARGE association [RCV001196878]|not provided [RCV000174935] |
Chr8:60830511 [GRCh38]
Chr8:61743070 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 |
copy number gain |
See cases [RCV000133720] |
Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2 |
pathogenic |
| NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) |
single nucleotide variant |
CHARGE association [RCV000531900]|CHD7-related condition [RCV003422067]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162409]|Inborn genetic diseases [RCV002516660]|not provided [RCV000175090] |
Chr8:60836267 [GRCh38]
Chr8:61748826 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3 |
copy number gain |
See cases [RCV000134830] |
Chr8:60519222..66659025 [GRCh38]
Chr8:61431781..67571260 [GRCh37]
Chr8:61594335..67733814 [NCBI36]
Chr8:8q12.1-13.1 |
pathogenic |
| GRCh38/hg38 8q12.1-12.2(chr8:60519197-60692992)x1 |
copy number loss |
See cases [RCV000135550] |
Chr8:60519197..60692992 [GRCh38]
Chr8:61431756..61605551 [GRCh37]
Chr8:61594310..61768105 [NCBI36]
Chr8:8q12.1-12.2 |
pathogenic|likely benign |
| NM_017780.4(CHD7):c.4137T>C (p.Asp1379=) |
single nucleotide variant |
not provided [RCV000175215] |
Chr8:60836964 [GRCh38]
Chr8:61749523 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 |
copy number gain |
See cases [RCV000137672] |
Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) |
single nucleotide variant |
CHARGE association [RCV001853271]|Inborn genetic diseases [RCV002433898]|not provided [RCV000782187]|not specified [RCV000202970] |
Chr8:60865295 [GRCh38]
Chr8:61777854 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.3(CHD7):c.2049_2050insAAAGCA |
insertion |
not specified [RCV000202994] |
Chr8:60781383..60781384 [GRCh38]
Chr8:61693942..61693943 [GRCh37]
Chr8:8q12.2 |
benign |
| GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 |
copy number gain |
See cases [RCV000139539] |
Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3 |
pathogenic |
| GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 |
copy number loss |
See cases [RCV000140643] |
Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 |
copy number loss |
See cases [RCV000143182] |
Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3 |
pathogenic |
| NM_017780.4(CHD7):c.2442+2449_2498+259del |
deletion |
CHARGE association [RCV000202645] |
Chr8:60804041..60808530 [GRCh38]
Chr8:61716600..61721089 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.2933G>A (p.Trp978Ter) |
single nucleotide variant |
not provided [RCV000153009] |
Chr8:60822121 [GRCh38]
Chr8:61734680 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.768C>T (p.Phe256=) |
single nucleotide variant |
CHARGE association [RCV002056023]|CHD7-related condition [RCV003895049]|not provided [RCV000153002] |
Chr8:60742200 [GRCh38]
Chr8:61654759 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) |
single nucleotide variant |
CHARGE association [RCV002514946]|CHD7-related condition [RCV003398801]|not provided [RCV000405637] |
Chr8:60742522 [GRCh38]
Chr8:61655081 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter) |
single nucleotide variant |
CHARGE association [RCV002516073]|not provided [RCV000277238] |
Chr8:60742801 [GRCh38]
Chr8:61655360 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1698A>G (p.Pro566=) |
single nucleotide variant |
CHARGE association [RCV003497836]|not provided [RCV000153006] |
Chr8:60781032 [GRCh38]
Chr8:61693591 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4534-20C>T |
single nucleotide variant |
CHARGE association [RCV002056024]|not provided [RCV000153015] |
Chr8:60841624 [GRCh38]
Chr8:61754183 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) |
single nucleotide variant |
CHARGE association [RCV001511165]|Inborn genetic diseases [RCV002345485]|not provided [RCV000153017] |
Chr8:60850527 [GRCh38]
Chr8:61763086 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) |
single nucleotide variant |
CHARGE association [RCV000307628]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000397690]|Inborn genetic diseases [RCV002345486]|not provided [RCV000153018]|not specified [RCV001657867] |
Chr8:60852050 [GRCh38]
Chr8:61764609 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys) |
single nucleotide variant |
CHARGE association [RCV002498725]|CHARGE association [RCV002514947]|not provided [RCV000153019] |
Chr8:60853296 [GRCh38]
Chr8:61765855 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7145dup (p.Ser2383fs) |
duplication |
not provided [RCV000326053] |
Chr8:60856182..60856183 [GRCh38]
Chr8:61768741..61768742 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) |
single nucleotide variant |
CHARGE association [RCV001234098]|CHD7-related condition [RCV003945205]|Inborn genetic diseases [RCV002514949]|not provided [RCV000153027] |
Chr8:60856626 [GRCh38]
Chr8:61769185 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) |
single nucleotide variant |
CHARGE association [RCV001085235]|Inborn genetic diseases [RCV002426729]|not provided [RCV000153028] |
Chr8:60865129 [GRCh38]
Chr8:61777688 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) |
single nucleotide variant |
CHARGE association [RCV001219295]|CHARGE association [RCV002478444]|not provided [RCV000723791]|not specified [RCV000153029] |
Chr8:60865578 [GRCh38]
Chr8:61778137 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) |
single nucleotide variant |
CHARGE association [RCV000258103]|not provided [RCV000203151] |
Chr8:60836175 [GRCh38]
Chr8:61748734 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic|no classifications from unflagged records |
| NM_017780.4(CHD7):c.90G>A (p.Pro30=) |
single nucleotide variant |
CHARGE association [RCV001079463]|CHD7-related condition [RCV003927614]|Inborn genetic diseases [RCV003298221]|not provided [RCV000175884] |
Chr8:60741522 [GRCh38]
Chr8:61654081 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.240G>A (p.Met80Ile) |
single nucleotide variant |
CHARGE association [RCV001360389]|not provided [RCV000175885] |
Chr8:60741672 [GRCh38]
Chr8:61654231 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.272G>A (p.Ser91Asn) |
single nucleotide variant |
not provided [RCV000175886] |
Chr8:60741704 [GRCh38]
Chr8:61654263 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) |
single nucleotide variant |
CHARGE association [RCV000685335]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159331]|Inborn genetic diseases [RCV002516692]|not provided [RCV000515044] |
Chr8:60742478 [GRCh38]
Chr8:61655037 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.360C>T (p.Gly120=) |
single nucleotide variant |
CHARGE association [RCV001085452]|Inborn genetic diseases [RCV002317015]|not provided [RCV000175889] |
Chr8:60741792 [GRCh38]
Chr8:61654351 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) |
single nucleotide variant |
CHARGE association [RCV001088947]|Inborn genetic diseases [RCV002326961]|not provided [RCV000175890]|not specified [RCV001699220] |
Chr8:60742602 [GRCh38]
Chr8:61655161 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.535G>A (p.Ala179Thr) |
single nucleotide variant |
not provided [RCV000175893] |
Chr8:60741967 [GRCh38]
Chr8:61654526 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.656G>A (p.Gly219Asp) |
single nucleotide variant |
not provided [RCV000175894] |
Chr8:60742088 [GRCh38]
Chr8:61654647 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.323C>A (p.Pro108His) |
single nucleotide variant |
CHARGE association [RCV000659293]|not provided [RCV000175895]|not specified [RCV000825308] |
Chr8:60741755 [GRCh38]
Chr8:61654314 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.1644G>A (p.Pro548=) |
single nucleotide variant |
CHARGE association [RCV003497838]|not provided [RCV000175897] |
Chr8:60743076 [GRCh38]
Chr8:61655635 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) |
single nucleotide variant |
CHARGE association [RCV000168185]|CHARGE association [RCV002498835] |
Chr8:60856459 [GRCh38]
Chr8:61769018 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1488dup (p.Pro497fs) |
duplication |
CHARGE association [RCV000168287] |
Chr8:60742919..60742920 [GRCh38]
Chr8:61655478..61655479 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6613C>T (p.Gln2205Ter) |
single nucleotide variant |
not provided [RCV000254740] |
Chr8:60853338 [GRCh38]
Chr8:61765897 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7840del (p.Asp2614fs) |
deletion |
not provided [RCV000255120] |
Chr8:60862205 [GRCh38]
Chr8:61774764 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2835+8T>C |
single nucleotide variant |
CHARGE association [RCV001084540]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160793]|Inborn genetic diseases [RCV002433865]|not provided [RCV000589620]|not specified [RCV000193763] |
Chr8:60821935 [GRCh38]
Chr8:61734494 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) |
single nucleotide variant |
CHARGE association [RCV000258106]|CHARGE association [RCV002500588]|CHD7-related condition [RCV003917743]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000297563]|Inborn genetic diseases [RCV002314796]|not provided [RCV001568745]|not specified [RCV000194303] |
Chr8:60742126 [GRCh38]
Chr8:61654685 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) |
single nucleotide variant |
CHARGE association [RCV000768180]|CHARGE association [RCV001083402]|CHD7-related condition [RCV003907628]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159419]|Inborn genetic diseases [RCV002317056]|not provided [RCV000417558]|not specified [RCV000192622] |
Chr8:60801587 [GRCh38]
Chr8:61714146 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) |
single nucleotide variant |
CHARGE association [RCV000700201]|CHD7-related condition [RCV003927635]|Inborn genetic diseases [RCV002314624]|not provided [RCV000176941] |
Chr8:60852201 [GRCh38]
Chr8:61764760 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) |
single nucleotide variant |
CHARGE association [RCV000358556]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000303790]|Inborn genetic diseases [RCV002314679]|not specified [RCV000180656] |
Chr8:60820073 [GRCh38]
Chr8:61732632 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2614-7G>T |
single nucleotide variant |
CHARGE association [RCV001088914]|CHD7-related condition [RCV003927706]|not provided [RCV000180657] |
Chr8:60820000 [GRCh38]
Chr8:61732559 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) |
single nucleotide variant |
CHARGE association [RCV001519326]|Inborn genetic diseases [RCV002317023]|not provided [RCV000176417] |
Chr8:60845314 [GRCh38]
Chr8:61757873 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2067G>A (p.Thr689=) |
single nucleotide variant |
CHARGE association [RCV000265902]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000318665]|Inborn genetic diseases [RCV002314629]|not provided [RCV000724425]|not specified [RCV000244236] |
Chr8:60781401 [GRCh38]
Chr8:61693960 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) |
single nucleotide variant |
CHARGE association [RCV001088213]|CHD7-related condition [RCV003947495]|Inborn genetic diseases [RCV002345603]|not provided [RCV000176579]|not specified [RCV001698991] |
Chr8:60849060 [GRCh38]
Chr8:61761619 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5405-17G>A |
single nucleotide variant |
CHARGE association [RCV000470769]|CHARGE association [RCV000850540]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV003235096]|Inborn genetic diseases [RCV000623964]|not provided [RCV000309868] |
Chr8:60850476 [GRCh38]
Chr8:61763035 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.6437T>C (p.Leu2146Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003298223]|not provided [RCV000177568] |
Chr8:60853162 [GRCh38]
Chr8:61765721 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) |
single nucleotide variant |
CHARGE association [RCV002054096]|not provided [RCV000177570] |
Chr8:60853496 [GRCh38]
Chr8:61766055 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) |
single nucleotide variant |
CHARGE association [RCV000685996]|not provided [RCV000177571] |
Chr8:60853033 [GRCh38]
Chr8:61765592 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6747T>A (p.Asp2249Glu) |
single nucleotide variant |
not provided [RCV000177572] |
Chr8:60853472 [GRCh38]
Chr8:61766031 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) |
single nucleotide variant |
CHARGE association [RCV001082670]|Inborn genetic diseases [RCV002362907]|not provided [RCV000724311]|not specified [RCV000177656] |
Chr8:60854409 [GRCh38]
Chr8:61766968 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) |
single nucleotide variant |
CHARGE association [RCV000768182]|CHARGE association [RCV000988069]|Inborn genetic diseases [RCV002390433]|not provided [RCV000724539]|not specified [RCV001818430] |
Chr8:60856875 [GRCh38]
Chr8:61769434 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) |
single nucleotide variant |
CHARGE association [RCV000327310]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000384139]|Inborn genetic diseases [RCV002314639]|not provided [RCV001541366]|not specified [RCV000193371] |
Chr8:60862623 [GRCh38]
Chr8:61775182 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) |
single nucleotide variant |
CHARGE association [RCV001086566]|Inborn genetic diseases [RCV002317043]|not provided [RCV000177944] |
Chr8:60865385 [GRCh38]
Chr8:61777944 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) |
single nucleotide variant |
CHARGE association [RCV000796515]|CHARGE association [RCV002492779]|Inborn genetic diseases [RCV002433776]|not provided [RCV000177945] |
Chr8:60865305 [GRCh38]
Chr8:61777864 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8672A>C (p.Asn2891Thr) |
single nucleotide variant |
not provided [RCV000177946] |
Chr8:60865611 [GRCh38]
Chr8:61778170 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8556C>T (p.Asp2852=) |
single nucleotide variant |
CHARGE association [RCV001460780]|not provided [RCV000177947] |
Chr8:60865495 [GRCh38]
Chr8:61778054 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) |
single nucleotide variant |
CHARGE association [RCV001226091]|Inborn genetic diseases [RCV002372093]|not provided [RCV000177949]|not specified [RCV000825897] |
Chr8:60865760 [GRCh38]
Chr8:61778319 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) |
single nucleotide variant |
CHARGE association [RCV000273174]|CHARGE association [RCV003224194]|CHD7-related condition [RCV003907609]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000321183]|Inborn genetic diseases [RCV002317044]|not provided [RCV000767108]|not specified [RCV000177950] |
Chr8:60865611 [GRCh38]
Chr8:61778170 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2499-271_2499-270insGTCTGT |
insertion |
not provided [RCV001549534] |
Chr8:60816115..60816116 [GRCh38]
Chr8:61728674..61728675 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.3(CHD7):c.2050_2055dupAAAGCA (p.Lys686_Thr687insAlaLys) |
duplication |
not specified [RCV000192507] |
Chr8:60781384..60781389 [GRCh38]
Chr8:61693943..61693948 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1678dup (p.Glu560fs) |
duplication |
CHARGE association [RCV000194479] |
Chr8:60781010..60781011 [GRCh38]
Chr8:61693569..61693570 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) |
duplication |
CHARGE association [RCV000194957] |
Chr8:60862303..60862304 [GRCh38]
Chr8:61774862..61774863 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) |
duplication |
CHARGE association [RCV000195102] |
Chr8:60851290..60851291 [GRCh38]
Chr8:61763849..61763850 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6526del (p.Glu2176fs) |
deletion |
CHARGE association [RCV000195205] |
Chr8:60853250 [GRCh38]
Chr8:61765809 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3678del (p.Phe1226fs) |
deletion |
CHARGE association [RCV000196644] |
Chr8:60830477 [GRCh38]
Chr8:61743036 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5199dup (p.His1734fs) |
duplication |
CHARGE association [RCV000198147] |
Chr8:60845397..60845398 [GRCh38]
Chr8:61757956..61757957 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7663del (p.Arg2555fs) |
deletion |
CHARGE association [RCV000199327] |
Chr8:60860957 [GRCh38]
Chr8:61773516 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1505del (p.Pro502fs) |
deletion |
CHARGE association [RCV000199561] |
Chr8:60742936 [GRCh38]
Chr8:61655495 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2614-14del |
deletion |
not provided [RCV001566315]|not specified [RCV000194705] |
Chr8:60819984 [GRCh38]
Chr8:61732543 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.3201+5del |
deletion |
not specified [RCV000194815] |
Chr8:60822749 [GRCh38]
Chr8:61735308 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) |
duplication |
CHARGE association [RCV000192729] |
Chr8:60820034..60820035 [GRCh38]
Chr8:61732593..61732594 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) |
single nucleotide variant |
CHARGE association [RCV000192854]|Inborn genetic diseases [RCV002345689] |
Chr8:60845036 [GRCh38]
Chr8:61757595 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6825dup (p.Met2276fs) |
duplication |
CHARGE association [RCV000193258] |
Chr8:60854410..60854411 [GRCh38]
Chr8:61766969..61766970 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) |
duplication |
CHARGE association [RCV000193650] |
Chr8:60816387..60816388 [GRCh38]
Chr8:61728946..61728947 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6446del (p.Gly2149fs) |
deletion |
CHARGE association [RCV000193810] |
Chr8:60853170 [GRCh38]
Chr8:61765729 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.528dup (p.Pro177fs) |
duplication |
CHARGE association [RCV000193887] |
Chr8:60741956..60741957 [GRCh38]
Chr8:61654515..61654516 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) |
single nucleotide variant |
CHARGE association [RCV000509342]|not provided [RCV000303888] |
Chr8:60830454 [GRCh38]
Chr8:61743013 [GRCh37]
Chr8:8q12.2 |
pathogenic|not provided |
| NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) |
single nucleotide variant |
CHARGE association [RCV001222555]|not provided [RCV000268757] |
Chr8:60845042 [GRCh38]
Chr8:61757601 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) |
deletion |
CHARGE association [RCV000258074] |
Chr8:60836102..60836105 [GRCh38]
Chr8:61748661..61748664 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) |
single nucleotide variant |
CHARGE association [RCV000258077]|CHD7-related condition [RCV003409390] |
Chr8:60741928 [GRCh38]
Chr8:61654487 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) |
deletion |
CHARGE association [RCV000258078]|not provided [RCV001563156] |
Chr8:60830370..60830371 [GRCh38]
Chr8:61742929..61742930 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) |
single nucleotide variant |
CHARGE association [RCV000258081]|CHD7-related condition [RCV003391021]|not provided [RCV000303960] |
Chr8:60838115 [GRCh38]
Chr8:61750674 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) |
single nucleotide variant |
CHARGE association [RCV000258083] |
Chr8:60742438 [GRCh38]
Chr8:61654997 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) |
duplication |
CHARGE association [RCV000258087] |
Chr8:60848537..60848538 [GRCh38]
Chr8:61761096..61761097 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) |
single nucleotide variant |
CHARGE association [RCV000258088]|not provided [RCV000330520] |
Chr8:60852682 [GRCh38]
Chr8:61765241 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) |
single nucleotide variant |
CHARGE association [RCV000258090] |
Chr8:60795104 [GRCh38]
Chr8:61707663 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) |
duplication |
CHARGE association [RCV000258093]|Inborn genetic diseases [RCV001267586]|not provided [RCV003151003] |
Chr8:60865894..60865895 [GRCh38]
Chr8:61778453..61778454 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) |
duplication |
CHARGE association [RCV000258097] |
Chr8:60856561..60856562 [GRCh38]
Chr8:61769120..61769121 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) |
duplication |
CHARGE association [RCV000258098] |
Chr8:60822612..60822613 [GRCh38]
Chr8:61735171..61735172 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) |
single nucleotide variant |
CHARGE association [RCV000258101]|Inborn genetic diseases [RCV000623136]|not provided [RCV000494643] |
Chr8:60830422 [GRCh38]
Chr8:61742981 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) |
deletion |
CHARGE association [RCV000258110] |
Chr8:60842038..60842039 [GRCh38]
Chr8:61754597..61754598 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) |
single nucleotide variant |
CHARGE association [RCV000258113]|not provided [RCV000731505] |
Chr8:60852873 [GRCh38]
Chr8:61765432 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) |
duplication |
CHARGE association [RCV000258114] |
Chr8:60861096..60861097 [GRCh38]
Chr8:61773655..61773656 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) |
deletion |
CHARGE association [RCV000258116]|not provided [RCV000414627] |
Chr8:60816388..60816392 [GRCh38]
Chr8:61728947..61728951 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) |
duplication |
CHARGE association [RCV000258122] |
Chr8:60830471..60830472 [GRCh38]
Chr8:61743030..61743031 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) |
deletion |
CHARGE association [RCV000258123] |
Chr8:60865668..60865669 [GRCh38]
Chr8:61778227..61778228 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) |
single nucleotide variant |
CHARGE association [RCV000258125] |
Chr8:60830325 [GRCh38]
Chr8:61742884 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs) |
microsatellite |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000258127] |
Chr8:60865395..60865396 [GRCh38]
Chr8:61777954..61777955 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1073del (p.Gly358fs) |
deletion |
CHARGE association [RCV000258132] |
Chr8:60742504 [GRCh38]
Chr8:61655063 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) |
single nucleotide variant |
CHARGE association [RCV000258142] |
Chr8:60842051 [GRCh38]
Chr8:61754610 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) |
single nucleotide variant |
CHARGE association [RCV000258145]|CHARGE association [RCV000763599]|not provided [RCV000760387] |
Chr8:60823843 [GRCh38]
Chr8:61736402 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) |
single nucleotide variant |
CHARGE association [RCV000258148]|not provided [RCV000413330] |
Chr8:60822504 [GRCh38]
Chr8:61735063 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) |
single nucleotide variant |
CHARGE association [RCV000258079]|CHARGE association [RCV002500964]|not provided [RCV003144185] |
Chr8:60741727 [GRCh38]
Chr8:61654286 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) |
single nucleotide variant |
CHARGE association [RCV000258096]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001334946]|Inborn genetic diseases [RCV002518788] |
Chr8:60823879 [GRCh38]
Chr8:61736438 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) |
single nucleotide variant |
CHARGE association [RCV000258133] |
Chr8:60742418 [GRCh38]
Chr8:61654977 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) |
single nucleotide variant |
CHARGE association [RCV000258138]|not provided [RCV000414205] |
Chr8:60852186 [GRCh38]
Chr8:61764745 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) |
single nucleotide variant |
CHARGE association [RCV000258143]|CHARGE association [RCV002503969]|Inborn genetic diseases [RCV002418101]|not provided [RCV001785541] |
Chr8:60862317 [GRCh38]
Chr8:61774876 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) |
single nucleotide variant |
CHARGE association [RCV000258150]|not provided [RCV001753739] |
Chr8:60781146 [GRCh38]
Chr8:61693705 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3379-2A>C |
single nucleotide variant |
CHARGE association [RCV000205203] |
Chr8:60828661 [GRCh38]
Chr8:61741220 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) |
deletion |
CHARGE association [RCV000206229] |
Chr8:60844928 [GRCh38]
Chr8:61757487 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn) |
single nucleotide variant |
CHARGE association [RCV000206559] |
Chr8:60836129 [GRCh38]
Chr8:61748688 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2376+4A>G |
single nucleotide variant |
CHARGE association [RCV000206807] |
Chr8:60800529 [GRCh38]
Chr8:61713088 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1714C>T (p.Gln572Ter) |
single nucleotide variant |
not provided [RCV000255326] |
Chr8:60781048 [GRCh38]
Chr8:61693607 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.151C>T (p.Gln51Ter) |
single nucleotide variant |
not provided [RCV000255545] |
Chr8:60741583 [GRCh38]
Chr8:61654142 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) |
single nucleotide variant |
CHARGE association [RCV000578165] |
Chr8:60849105 [GRCh38]
Chr8:61761664 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) |
single nucleotide variant |
CHARGE association [RCV000578169] |
Chr8:60850497 [GRCh38]
Chr8:61763056 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) |
microsatellite |
CHARGE association [RCV000578185] |
Chr8:60742772..60742773 [GRCh38]
Chr8:61655331..61655332 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) |
single nucleotide variant |
CHARGE association [RCV000578196] |
Chr8:60801591 [GRCh38]
Chr8:61714150 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) |
single nucleotide variant |
CHARGE association [RCV000547499]|CHARGE association [RCV002506306]|CHD7-related condition [RCV003905348]|Inborn genetic diseases [RCV002350211]|not provided [RCV001683557] |
Chr8:60852098 [GRCh38]
Chr8:61764657 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) |
single nucleotide variant |
CHARGE association [RCV000578161] |
Chr8:60849154 [GRCh38]
Chr8:61761713 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) |
single nucleotide variant |
CHARGE association [RCV000578198] |
Chr8:60742357 [GRCh38]
Chr8:61654916 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.3344G>A (p.Cys1115Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002313557] |
Chr8:60823982 [GRCh38]
Chr8:61736541 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.258G>A (p.Pro86=) |
single nucleotide variant |
CHARGE association [RCV001433536]|Inborn genetic diseases [RCV002318666] |
Chr8:60741690 [GRCh38]
Chr8:61654249 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.288C>T (p.Asn96=) |
single nucleotide variant |
CHARGE association [RCV000865740]|CHARGE association [RCV002493282]|Inborn genetic diseases [RCV002318817]|not provided [RCV001559724] |
Chr8:60741720 [GRCh38]
Chr8:61654279 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2520_2521delinsTC (p.Trp840_Ala841delinsCysPro) |
indel |
Inborn genetic diseases [RCV002316766] |
Chr8:60816408..60816409 [GRCh38]
Chr8:61728967..61728968 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6333G>A (p.Arg2111=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316890] |
Chr8:60853058 [GRCh38]
Chr8:61765617 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2097-19G>A |
single nucleotide variant |
CHARGE association [RCV001520007]|not provided [RCV000578953] |
Chr8:60794967 [GRCh38]
Chr8:61707526 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.538C>T (p.Gln180Ter) |
single nucleotide variant |
CHARGE association [RCV001563584]|not provided [RCV000755928] |
Chr8:60741970 [GRCh38]
Chr8:61654529 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) |
single nucleotide variant |
CHARGE association [RCV000211558]|Inborn genetic diseases [RCV000623636]|not provided [RCV001565316] |
Chr8:60853017 [GRCh38]
Chr8:61765576 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs) |
insertion |
CHARGE association [RCV000543551] |
Chr8:60854428..60854429 [GRCh38]
Chr8:61766987..61766988 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) |
single nucleotide variant |
CHARGE association [RCV000229697]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000397991]|Inborn genetic diseases [RCV002317769]|Premature ovarian failure [RCV001002740]|not provided [RCV001706270]|not specified [RCV000243125] |
Chr8:60742997 [GRCh38]
Chr8:61655556 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.2831G>A (p.Arg944His) |
single nucleotide variant |
CHARGE association [RCV000231264]|CHD7-related condition [RCV003967659]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000275169]|Inborn genetic diseases [RCV002317770]|not provided [RCV001722263]|not specified [RCV000278975] |
Chr8:60821923 [GRCh38]
Chr8:61734482 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) |
single nucleotide variant |
CHARGE association [RCV000224986]|CHD7-related condition [RCV003417801]|not provided [RCV001731455] |
Chr8:60855993 [GRCh38]
Chr8:61768552 [GRCh37]
Chr8:8q12.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.8199T>C (p.Ala2733=) |
single nucleotide variant |
CHARGE association [RCV001437596] |
Chr8:60865138 [GRCh38]
Chr8:61777697 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2836-2A>T |
single nucleotide variant |
CHARGE association [RCV000232661]|not provided [RCV000599171] |
Chr8:60822022 [GRCh38]
Chr8:61734581 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter) |
single nucleotide variant |
CHARGE association [RCV000234220] |
Chr8:60830567 [GRCh38]
Chr8:61743126 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3964del (p.Leu1322fs) |
deletion |
CHARGE association [RCV000258139]|not provided [RCV000238786] |
Chr8:60836258 [GRCh38]
Chr8:61748817 [GRCh37]
Chr8:8q12.2 |
pathogenic|no classifications from unflagged records |
| NM_017780.4(CHD7):c.4008C>T (p.Ile1336=) |
single nucleotide variant |
CHARGE association [RCV001505723]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162410]|not provided [RCV001700164]|not specified [RCV000600221] |
Chr8:60836835 [GRCh38]
Chr8:61749394 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) |
single nucleotide variant |
CHARGE association [RCV000659301]|not provided [RCV001557861] |
Chr8:60852673 [GRCh38]
Chr8:61765232 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) |
single nucleotide variant |
CHARGE association [RCV000578177] |
Chr8:60822103 [GRCh38]
Chr8:61734662 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) |
single nucleotide variant |
CHARGE association [RCV000578246] |
Chr8:60822046 [GRCh38]
Chr8:61734605 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 |
copy number gain |
See cases [RCV000239428] |
Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3 |
pathogenic |
| NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser) |
single nucleotide variant |
CHARGE association [RCV000526578] |
Chr8:60822068 [GRCh38]
Chr8:61734627 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) |
single nucleotide variant |
CHARGE association [RCV000659298] |
Chr8:60822634 [GRCh38]
Chr8:61735193 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5426T>G (p.Met1809Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000622688] |
Chr8:60850514 [GRCh38]
Chr8:61763073 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5625T>C (p.Pro1875=) |
single nucleotide variant |
CHARGE association [RCV000865305]|Inborn genetic diseases [RCV003362738]|not provided [RCV001576877]|not specified [RCV000246131] |
Chr8:60851279 [GRCh38]
Chr8:61763838 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7620G>A (p.Glu2540=) |
single nucleotide variant |
CHARGE association [RCV001493770] |
Chr8:60860915 [GRCh38]
Chr8:61773474 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2218G>A (p.Asp740Asn) |
single nucleotide variant |
CHARGE association [RCV003765538]|not specified [RCV000248701] |
Chr8:60795107 [GRCh38]
Chr8:61707666 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2697+30G>A |
single nucleotide variant |
not specified [RCV000246323] |
Chr8:60820120 [GRCh38]
Chr8:61732679 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5210+25del |
deletion |
not specified [RCV000246436] |
Chr8:60845433 [GRCh38]
Chr8:61757992 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3523-35C>G |
single nucleotide variant |
not provided [RCV001640559]|not specified [RCV000248847] |
Chr8:60830287 [GRCh38]
Chr8:61742846 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.276C>T (p.Asn92=) |
single nucleotide variant |
CHARGE association [RCV001498768]|not specified [RCV000251227] |
Chr8:60741708 [GRCh38]
Chr8:61654267 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4851-31C>T |
single nucleotide variant |
not provided [RCV001651223]|not specified [RCV000249060] |
Chr8:60844833 [GRCh38]
Chr8:61757392 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5894+32C>G |
single nucleotide variant |
not specified [RCV000241807] |
Chr8:60852279 [GRCh38]
Chr8:61764838 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4644+36C>T |
single nucleotide variant |
not provided [RCV001668553]|not specified [RCV000244286] |
Chr8:60841790 [GRCh38]
Chr8:61754349 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2096+49A>G |
single nucleotide variant |
not specified [RCV000249154] |
Chr8:60781479 [GRCh38]
Chr8:61694038 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4629T>C (p.Asp1543=) |
single nucleotide variant |
not specified [RCV000254134] |
Chr8:60841739 [GRCh38]
Chr8:61754298 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7428T>C (p.Asp2476=) |
single nucleotide variant |
not specified [RCV000254184] |
Chr8:60856708 [GRCh38]
Chr8:61769267 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.550C>T (p.Gln184Ter) |
single nucleotide variant |
not provided [RCV000255865] |
Chr8:60741982 [GRCh38]
Chr8:61654541 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs) |
deletion |
CHARGE association [RCV001234008]|not provided [RCV000255893] |
Chr8:60852889..60852890 [GRCh38]
Chr8:61765448..61765449 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.839C>G (p.Pro280Arg) |
single nucleotide variant |
CHARGE association [RCV002518645]|Inborn genetic diseases [RCV003165695]|not provided [RCV003328576]|not specified [RCV000242160] |
Chr8:60742271 [GRCh38]
Chr8:61654830 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7221C>T (p.Ile2407=) |
single nucleotide variant |
CHARGE association [RCV002058272]|not specified [RCV000244655] |
Chr8:60856501 [GRCh38]
Chr8:61769060 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu) |
single nucleotide variant |
CHARGE association [RCV001312260]|not specified [RCV000247111] |
Chr8:60852924 [GRCh38]
Chr8:61765483 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6225A>G (p.Gly2075=) |
single nucleotide variant |
CHARGE association [RCV002058271]|not specified [RCV000251866] |
Chr8:60852950 [GRCh38]
Chr8:61765509 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3379-33A>G |
single nucleotide variant |
not provided [RCV001636802]|not specified [RCV000251874] |
Chr8:60828630 [GRCh38]
Chr8:61741189 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5607+30G>T |
single nucleotide variant |
not specified [RCV000254325] |
Chr8:60851134 [GRCh38]
Chr8:61763693 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys) |
single nucleotide variant |
CHARGE association [RCV001068720]|Inborn genetic diseases [RCV002436086]|not provided [RCV001699272]|not specified [RCV000242433] |
Chr8:60821880 [GRCh38]
Chr8:61734439 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2835+24A>T |
single nucleotide variant |
not provided [RCV001689882]|not specified [RCV000247409] |
Chr8:60821951 [GRCh38]
Chr8:61734510 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.1179A>G (p.Pro393=) |
single nucleotide variant |
CHARGE association [RCV001084585]|CHARGE association [RCV002494752]|Inborn genetic diseases [RCV002313984]|not provided [RCV000588342]|not specified [RCV000242796] |
Chr8:60742611 [GRCh38]
Chr8:61655170 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.2614-25_2614-4del |
deletion |
not specified [RCV000245183] |
Chr8:60819982..60820003 [GRCh38]
Chr8:61732541..61732562 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) |
single nucleotide variant |
CHARGE association [RCV001081752]|CHARGE association [RCV002500913]|Inborn genetic diseases [RCV002313985]|not provided [RCV000588099]|not specified [RCV000250064] |
Chr8:60852110 [GRCh38]
Chr8:61764669 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.2614-48C>G |
single nucleotide variant |
not specified [RCV000242938] |
Chr8:60819959 [GRCh38]
Chr8:61732518 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) |
single nucleotide variant |
CHARGE association [RCV000659296]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160695]|Inborn genetic diseases [RCV002311395]|not provided [RCV001528317]|not specified [RCV000247781] |
Chr8:60742829 [GRCh38]
Chr8:61655388 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) |
single nucleotide variant |
CHARGE association [RCV000380530]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000278983]|not specified [RCV000250412] |
Chr8:60865261 [GRCh38]
Chr8:61777820 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2376+43_2376+48dup |
duplication |
CHARGE association [RCV001579201]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001579202]|not provided [RCV001640558]|not specified [RCV000248170] |
Chr8:60800567..60800568 [GRCh38]
Chr8:61713126..61713127 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.2442+38A>T |
single nucleotide variant |
not provided [RCV001698757]|not specified [RCV000253151] |
Chr8:60801631 [GRCh38]
Chr8:61714190 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.-490GGC[9] |
microsatellite |
CHARGE association [RCV000269790]|Hypogonadism with anosmia [RCV000385250] |
Chr8:60678764..60678765 [GRCh38]
Chr8:61591323..61591324 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) |
single nucleotide variant |
CHARGE association [RCV002058739]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000322922]|Inborn genetic diseases [RCV002379248]|not provided [RCV001574929] |
Chr8:60742462 [GRCh38]
Chr8:61655021 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6754del (p.Glu2252fs) |
deletion |
not provided [RCV000276528] |
Chr8:60853478 [GRCh38]
Chr8:61766037 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) |
single nucleotide variant |
CHARGE association [RCV001855092]|CHARGE association [RCV002487190]|Inborn genetic diseases [RCV002313998]|not provided [RCV000270088] |
Chr8:60845304 [GRCh38]
Chr8:61757863 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG |
indel |
CHARGE association [RCV000322982]|Hypogonadism with anosmia [RCV000270205] |
Chr8:60678791 [GRCh38]
Chr8:61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-472G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000281366] |
Chr8:60678785 [GRCh38]
Chr8:61591344 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) |
single nucleotide variant |
CHARGE association [RCV000334305]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000281577]|not provided [RCV001785601] |
Chr8:60742855 [GRCh38]
Chr8:61655414 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6243C>A (p.Cys2081Ter) |
single nucleotide variant |
not provided [RCV000283116] |
Chr8:60852968 [GRCh38]
Chr8:61765527 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3967G>A (p.Glu1323Lys) |
single nucleotide variant |
not provided [RCV000339963] |
Chr8:60836261 [GRCh38]
Chr8:61748820 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*338del |
deletion |
CHARGE association [RCV000259795]|Hypogonadism with anosmia [RCV000298672] |
Chr8:60866271 [GRCh38]
Chr8:61778830 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2820G>A (p.Pro940=) |
single nucleotide variant |
CHARGE association [RCV001444345]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000354923] |
Chr8:60821912 [GRCh38]
Chr8:61734471 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG |
indel |
CHARGE association [RCV000282100]|Hypogonadism with anosmia [RCV000316154] |
Chr8:60678791 [GRCh38]
Chr8:61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe) |
single nucleotide variant |
CHARGE association [RCV001208913]|CHARGE association [RCV002494823]|Inborn genetic diseases [RCV002317800]|not provided [RCV000273564] |
Chr8:60844890 [GRCh38]
Chr8:61757449 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) |
single nucleotide variant |
CHARGE association [RCV001305488]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162517]|Inborn genetic diseases [RCV002365319]|not provided [RCV000341506] |
Chr8:60852972 [GRCh38]
Chr8:61765531 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.3487A>G (p.Met1163Val) |
single nucleotide variant |
CHARGE association [RCV003603050]|not provided [RCV001764255]|not specified [RCV000342002] |
Chr8:60828771 [GRCh38]
Chr8:61741330 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG |
indel |
CHARGE association [RCV000271809]|Hypogonadism with anosmia [RCV000368654] |
Chr8:60678791 [GRCh38]
Chr8:61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1579A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000272063] |
Chr8:60867512 [GRCh38]
Chr8:61780071 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) |
single nucleotide variant |
Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA) [RCV003237832]|CHARGE association [RCV000282364]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000372174]|not provided [RCV001731636] |
Chr8:60849140 [GRCh38]
Chr8:61761699 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.*965G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000340124] |
Chr8:60866898 [GRCh38]
Chr8:61779457 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) |
single nucleotide variant |
CHARGE association [RCV001861326]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000321538]|not provided [RCV001591034]|not specified [RCV000502071] |
Chr8:60865152 [GRCh38]
Chr8:61777711 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) |
single nucleotide variant |
CHARGE association [RCV000282872]|CHARGE association [RCV002502155]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000379877]|Inborn genetic diseases [RCV002348026]|not provided [RCV001705436]|not specified [RCV000275596] |
Chr8:60742620 [GRCh38]
Chr8:61655179 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.500C>T (p.Pro167Leu) |
single nucleotide variant |
CHARGE association [RCV001320926]|not provided [RCV000277084] |
Chr8:60741932 [GRCh38]
Chr8:61654491 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7165-5A>G |
single nucleotide variant |
CHARGE association [RCV001087063]|CHARGE association [RCV002502136]|CHD7-related condition [RCV003957457]|Inborn genetic diseases [RCV002311405]|not provided [RCV000586567]|not specified [RCV000379770] |
Chr8:60856440 [GRCh38]
Chr8:61768999 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.-230G>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000261287]|not provided [RCV003430952] |
Chr8:60679027 [GRCh38]
Chr8:61591586 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) |
single nucleotide variant |
CHARGE association [RCV000272661]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000306673]|Inborn genetic diseases [RCV002314086]|not provided [RCV001706603]|not specified [RCV001821106] |
Chr8:60781346 [GRCh38]
Chr8:61693905 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.-490GGC[10] |
microsatellite |
CHARGE association [RCV000330757]|Hypogonadism with anosmia [RCV000273383] |
Chr8:60678764..60678765 [GRCh38]
Chr8:61591323..61591324 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6781del (p.Ala2261fs) |
deletion |
not provided [RCV000320041] |
Chr8:60854368 [GRCh38]
Chr8:61766927 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5300+8C>T |
single nucleotide variant |
CHARGE association [RCV000546789]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164458]|not provided [RCV003430822]|not specified [RCV000279686] |
Chr8:60848612 [GRCh38]
Chr8:61761171 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.-249C>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000262430] |
Chr8:60679008 [GRCh38]
Chr8:61591567 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) |
single nucleotide variant |
CHARGE association [RCV000273816]|CHARGE association [RCV002480250]|Hypogonadism with anosmia [RCV000368388] |
Chr8:60842013 [GRCh38]
Chr8:61754572 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) |
single nucleotide variant |
CHARGE association [RCV001055305]|CHARGE association [RCV002487186]|Inborn genetic diseases [RCV002356366]|not provided [RCV000351337] |
Chr8:60852181 [GRCh38]
Chr8:61764740 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.*505C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000263181] |
Chr8:60866438 [GRCh38]
Chr8:61778997 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1495C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000274393] |
Chr8:60867428 [GRCh38]
Chr8:61779987 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.4961del (p.Tyr1654fs) |
deletion |
not provided [RCV000339416] |
Chr8:60844974 [GRCh38]
Chr8:61757533 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7820del (p.Ser2607fs) |
deletion |
not provided [RCV000341981] |
Chr8:60861115 [GRCh38]
Chr8:61773674 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG |
indel |
CHARGE association [RCV000264007]|Hypogonadism with anosmia [RCV000361391] |
Chr8:60678791 [GRCh38]
Chr8:61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) |
single nucleotide variant |
CHARGE association [RCV000367545]|Hypogonadism with anosmia [RCV000275238]|not provided [RCV003314590] |
Chr8:60742324 [GRCh38]
Chr8:61654883 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1104C>T (p.His368=) |
single nucleotide variant |
CHARGE association [RCV002480019]|CHARGE association [RCV002518941]|not provided [RCV000391517] |
Chr8:60742536 [GRCh38]
Chr8:61655095 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) |
single nucleotide variant |
CHARGE association [RCV000275903]|CHD7-related condition [RCV003932505]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000333331]|Inborn genetic diseases [RCV002314088]|not provided [RCV001706605]|not specified [RCV000602581] |
Chr8:60856831 [GRCh38]
Chr8:61769390 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.*659T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000333405] |
Chr8:60866592 [GRCh38]
Chr8:61779151 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) |
single nucleotide variant |
CHARGE association [RCV001850925]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000315043]|not provided [RCV001770286] |
Chr8:60742187 [GRCh38]
Chr8:61654746 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6105del (p.Glu2035fs) |
deletion |
not provided [RCV000375513] |
Chr8:60852829 [GRCh38]
Chr8:61765388 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) |
single nucleotide variant |
CHARGE association [RCV001808724]|Inborn genetic diseases [RCV000622927]|not provided [RCV000373668] |
Chr8:60742366 [GRCh38]
Chr8:61654925 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2238+6A>G |
single nucleotide variant |
not provided [RCV000360746] |
Chr8:60795133 [GRCh38]
Chr8:61707692 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln) |
single nucleotide variant |
CHARGE association [RCV001227651]|Inborn genetic diseases [RCV002436122]|not provided [RCV000395485] |
Chr8:60822505 [GRCh38]
Chr8:61735064 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.434G>A (p.Trp145Ter) |
single nucleotide variant |
not provided [RCV000384888] |
Chr8:60741866 [GRCh38]
Chr8:61654425 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8062dup (p.Ile2688fs) |
duplication |
not provided [RCV000391153] |
Chr8:60862637..60862638 [GRCh38]
Chr8:61775196..61775197 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) |
single nucleotide variant |
CHARGE association [RCV000266545]|CHD7-related condition [RCV003970066]|Hearing impairment [RCV001375366]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000361220]|Inborn genetic diseases [RCV002317862]|not provided [RCV001559391]|not specified [RCV001195449] |
Chr8:60853078 [GRCh38]
Chr8:61765637 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.*1502G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000277999] |
Chr8:60867435 [GRCh38]
Chr8:61779994 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser) |
single nucleotide variant |
CHARGE association [RCV001341361]|not provided [RCV000390246] |
Chr8:60822634 [GRCh38]
Chr8:61735193 [GRCh37]
Chr8:8q12.2 |
pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.5973A>G (p.Gln1991=) |
single nucleotide variant |
CHARGE association [RCV001447900]|not provided [RCV000295970] |
Chr8:60852576 [GRCh38]
Chr8:61765135 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5496G>A (p.Glu1832=) |
single nucleotide variant |
CHARGE association [RCV001501269]|Inborn genetic diseases [RCV002348024]|not provided [RCV000362876] |
Chr8:60850584 [GRCh38]
Chr8:61763143 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) |
single nucleotide variant |
CHARGE association [RCV000359572]|CHD7-related condition [RCV003972534]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000267205]|Inborn genetic diseases [RCV002317863]|not provided [RCV001753840] |
Chr8:60865679 [GRCh38]
Chr8:61778238 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.4189C>T (p.Gln1397Ter) |
single nucleotide variant |
not provided [RCV000401389] |
Chr8:60837671 [GRCh38]
Chr8:61750230 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7257T>C (p.Asn2419=) |
single nucleotide variant |
not provided [RCV000403328] |
Chr8:60856537 [GRCh38]
Chr8:61769096 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1698T>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000279400] |
Chr8:60867631 [GRCh38]
Chr8:61780190 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) |
single nucleotide variant |
CHARGE association [RCV001082628]|CHD7-related condition [RCV003920052]|Inborn genetic diseases [RCV000624519]|not provided [RCV000300836] |
Chr8:60823879 [GRCh38]
Chr8:61736438 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2779G>A (p.Ala927Thr) |
single nucleotide variant |
not provided [RCV003314993] |
Chr8:60821871 [GRCh38]
Chr8:61734430 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4136A>C (p.Asp1379Ala) |
single nucleotide variant |
not provided [RCV000489569] |
Chr8:60836963 [GRCh38]
Chr8:61749522 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1797del (p.Lys601fs) |
deletion |
not provided [RCV000489678] |
Chr8:60781131 [GRCh38]
Chr8:61693690 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2219A>G (p.Asp740Gly) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001375018] |
Chr8:60795108 [GRCh38]
Chr8:61707667 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7830+15G>A |
single nucleotide variant |
CHARGE association [RCV002527424]|not provided [RCV000514785] |
Chr8:60861140 [GRCh38]
Chr8:61773699 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup) |
microsatellite |
CHARGE association [RCV002499338]|not provided [RCV000723177] |
Chr8:60781254..60781255 [GRCh38]
Chr8:61693813..61693814 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2095A>G (p.Ser699Gly) |
single nucleotide variant |
not provided [RCV002281471] |
Chr8:60781429 [GRCh38]
Chr8:61693988 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.5101del (p.Gln1701fs) |
deletion |
CHARGE association [RCV000532812] |
Chr8:60845298 [GRCh38]
Chr8:61757857 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3937del (p.Ser1313fs) |
deletion |
CHARGE association [RCV000555288] |
Chr8:60836228 [GRCh38]
Chr8:61748787 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4291A>G (p.Lys1431Glu) |
single nucleotide variant |
not provided [RCV000523301] |
Chr8:60837773 [GRCh38]
Chr8:61750332 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2442+1G>T |
single nucleotide variant |
not provided [RCV000489857] |
Chr8:60801594 [GRCh38]
Chr8:61714153 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2239-16T>A |
single nucleotide variant |
CHARGE association [RCV002280376] |
Chr8:60800372 [GRCh38]
Chr8:61712931 [GRCh37]
Chr8:8q12.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.7456C>T (p.Gln2486Ter) |
single nucleotide variant |
not provided [RCV001269791] |
Chr8:60856736 [GRCh38]
Chr8:61769295 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) |
single nucleotide variant |
CHARGE association [RCV000861610]|CHD7-related condition [RCV003932506]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000314353]|not provided [RCV001764334] |
Chr8:60865427 [GRCh38]
Chr8:61777986 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.*1797C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000314602] |
Chr8:60867730 [GRCh38]
Chr8:61780289 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.*622G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000386823] |
Chr8:60866555 [GRCh38]
Chr8:61779114 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) |
deletion |
CHARGE association [RCV000374912]|Hypogonadism with anosmia [RCV000292166]|not provided [RCV002285322] |
Chr8:60865895..60865897 [GRCh38]
Chr8:61778454..61778456 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.202C>T (p.His68Tyr) |
single nucleotide variant |
CHARGE association [RCV002524570]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000292236] |
Chr8:60741634 [GRCh38]
Chr8:61654193 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2238+12A>G |
single nucleotide variant |
CHARGE association [RCV002058741]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000351864] |
Chr8:60795139 [GRCh38]
Chr8:61707698 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.*1728T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000392132] |
Chr8:60867661 [GRCh38]
Chr8:61780220 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.*293G>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000303299] |
Chr8:60866226 [GRCh38]
Chr8:61778785 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6321C>T (p.His2107=) |
single nucleotide variant |
CHARGE association [RCV000303607]|Hypogonadism with anosmia [RCV000395790] |
Chr8:60853046 [GRCh38]
Chr8:61765605 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.575A>G (p.Tyr192Cys) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000395610] |
Chr8:60742007 [GRCh38]
Chr8:61654566 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*839A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000346148] |
Chr8:60866772 [GRCh38]
Chr8:61779331 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-466A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000293713] |
Chr8:60678791 [GRCh38]
Chr8:61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2787C>T (p.Ile929=) |
single nucleotide variant |
CHARGE association [RCV001408130]|CHARGE association [RCV002504189]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000305020]|Inborn genetic diseases [RCV002436219] |
Chr8:60821879 [GRCh38]
Chr8:61734438 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.*1189A>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000305229] |
Chr8:60867122 [GRCh38]
Chr8:61779681 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn) |
single nucleotide variant |
CHARGE association [RCV002524573]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000375951] |
Chr8:60852837 [GRCh38]
Chr8:61765396 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.*251T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000347588]|not provided [RCV003422361] |
Chr8:60866184 [GRCh38]
Chr8:61778743 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.13G>C (p.Gly5Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000389791] |
Chr8:60741445 [GRCh38]
Chr8:61654004 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6775+6G>T |
single nucleotide variant |
CHARGE association [RCV002523689]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000388091]|not provided [RCV003422360] |
Chr8:60853506 [GRCh38]
Chr8:61766065 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4851T>G (p.Gly1617=) |
single nucleotide variant |
CHARGE association [RCV002524572]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000369638] |
Chr8:60844864 [GRCh38]
Chr8:61757423 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG |
indel |
CHARGE association [RCV000373001]|Hypogonadism with anosmia [RCV000295011] |
Chr8:60678791 [GRCh38]
Chr8:61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) |
single nucleotide variant |
CHARGE association [RCV000389371]|Hypogonadism with anosmia [RCV000295140]|Inborn genetic diseases [RCV002317861]|not provided [RCV001567504] |
Chr8:60823860 [GRCh38]
Chr8:61736419 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.*1788C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000349398] |
Chr8:60867721 [GRCh38]
Chr8:61780280 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*19C>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000387722] |
Chr8:60865952 [GRCh38]
Chr8:61778511 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1644A>G |
single nucleotide variant |
CHARGE association [RCV000284899]|Hypogonadism with anosmia [RCV000377028] |
Chr8:60867577 [GRCh38]
Chr8:61780136 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2498+12G>T |
single nucleotide variant |
CHARGE association [RCV002058742]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000307529]|not provided [RCV001618663] |
Chr8:60808284 [GRCh38]
Chr8:61720843 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) |
single nucleotide variant |
CHARGE association [RCV002524571]|CHD7-related condition [RCV003970065]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000320097]|not specified [RCV003230490] |
Chr8:60821916 [GRCh38]
Chr8:61734475 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.*1444T>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000335254] |
Chr8:60867377 [GRCh38]
Chr8:61779936 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7641_7651del (p.Glu2547fs) |
deletion |
not provided [RCV000406220] |
Chr8:60860933..60860943 [GRCh38]
Chr8:61773492..61773502 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.*96C>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000296049] |
Chr8:60866029 [GRCh38]
Chr8:61778588 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000296244]|not provided [RCV000485316] |
Chr8:60852909 [GRCh38]
Chr8:61765468 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.-380C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000397066] |
Chr8:60678877 [GRCh38]
Chr8:61591436 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) |
single nucleotide variant |
CHARGE association [RCV002523690]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000365097] |
Chr8:60865549 [GRCh38]
Chr8:61778108 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG |
indel |
CHARGE association [RCV000373749]|Hypogonadism with anosmia [RCV000321458] |
Chr8:60678791 [GRCh38]
Chr8:61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) |
single nucleotide variant |
CHARGE association [RCV000336301]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000388532] |
Chr8:60795078 [GRCh38]
Chr8:61707637 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8364T>C (p.Asp2788=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000403717] |
Chr8:60865303 [GRCh38]
Chr8:61777862 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-465GCG[8] |
microsatellite |
CHARGE association [RCV000406167]|Hypogonadism with anosmia [RCV000352029] |
Chr8:60678791..60678792 [GRCh38]
Chr8:61591350..61591351 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1566C>T (p.Gly522=) |
single nucleotide variant |
CHARGE association [RCV001304742]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000398015]|not specified [RCV000825136] |
Chr8:60742998 [GRCh38]
Chr8:61655557 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5343T>C (p.Val1781=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000336091] |
Chr8:60849093 [GRCh38]
Chr8:61761652 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.444G>A (p.Arg148=) |
single nucleotide variant |
CHARGE association [RCV000343507]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000286247]|Inborn genetic diseases [RCV002328881]|not provided [RCV001706602]|not specified [RCV001821105] |
Chr8:60741876 [GRCh38]
Chr8:61654435 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys) |
single nucleotide variant |
CHARGE association [RCV003766094]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000358777] |
Chr8:60852112 [GRCh38]
Chr8:61764671 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*127del |
deletion |
CHARGE association [RCV000308894]|Hypogonadism with anosmia [RCV000403471]|not provided [RCV001643097] |
Chr8:60866051 [GRCh38]
Chr8:61778610 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) |
single nucleotide variant |
CHARGE association [RCV001861325]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000390634]|Inborn genetic diseases [RCV002348115]|not provided [RCV003144242]|not specified [RCV000825306] |
Chr8:60850528 [GRCh38]
Chr8:61763087 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) |
single nucleotide variant |
CHARGE association [RCV001433530]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000370881]|not provided [RCV000480585] |
Chr8:60865519 [GRCh38]
Chr8:61778078 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.*1832A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000394035] |
Chr8:60867765 [GRCh38]
Chr8:61780324 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1663AG[1] |
microsatellite |
CHARGE association [RCV000380403]|Hypogonadism with anosmia [RCV000323480] |
Chr8:60867595..60867596 [GRCh38]
Chr8:61780154..61780155 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-466_-461del |
deletion |
CHARGE association [RCV000397815]|Hypogonadism with anosmia [RCV000338495] |
Chr8:60678786..60678791 [GRCh38]
Chr8:61591345..61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000298183] |
Chr8:60853194 [GRCh38]
Chr8:61765753 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-469G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000298636] |
Chr8:60678788 [GRCh38]
Chr8:61591347 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG |
indel |
CHARGE association [RCV000362430]|Hypogonadism with anosmia [RCV000310073] |
Chr8:60678791 [GRCh38]
Chr8:61591350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) |
single nucleotide variant |
CHARGE association [RCV001861327]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000323991]|Inborn genetic diseases [RCV002374602] |
Chr8:60865794 [GRCh38]
Chr8:61778353 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2066C>T (p.Thr689Met) |
single nucleotide variant |
CHARGE association [RCV003497845]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000376666] |
Chr8:60781400 [GRCh38]
Chr8:61693959 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4645-9T>C |
single nucleotide variant |
CHARGE association [RCV001516008]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000395677] |
Chr8:60841838 [GRCh38]
Chr8:61754397 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.*1577C>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000325479] |
Chr8:60867510 [GRCh38]
Chr8:61780069 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) |
single nucleotide variant |
CHARGE association [RCV000405181]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000340499]|Inborn genetic diseases [RCV002365430]|not provided [RCV003430953] |
Chr8:60856120 [GRCh38]
Chr8:61768679 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser) |
single nucleotide variant |
CHARGE association [RCV002504016]|not provided [RCV000356353] |
Chr8:60822133 [GRCh38]
Chr8:61734692 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6669C>T (p.Val2223=) |
single nucleotide variant |
CHARGE association [RCV000530937]|CHD7-related condition [RCV003962482] |
Chr8:60853394 [GRCh38]
Chr8:61765953 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.*731G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000288740] |
Chr8:60866664 [GRCh38]
Chr8:61779223 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) |
single nucleotide variant |
CHARGE association [RCV000288922]|CHARGE association [RCV002504190]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000325200]|Inborn genetic diseases [RCV002314087]|not provided [RCV001706604] |
Chr8:60854511 [GRCh38]
Chr8:61767070 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.*1469G>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000357321] |
Chr8:60867402 [GRCh38]
Chr8:61779961 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) |
single nucleotide variant |
CHARGE association [RCV000311193]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000351953]|not provided [RCV000483542] |
Chr8:60851287 [GRCh38]
Chr8:61763846 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) |
single nucleotide variant |
CHARGE association [RCV000368233]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000311256]|Inborn genetic diseases [RCV003278791] |
Chr8:60856761 [GRCh38]
Chr8:61769320 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.-467_-466insGGCAGC |
insertion |
CHARGE association [RCV000397824]|Hypogonadism with anosmia [RCV000311769] |
Chr8:60678788..60678789 [GRCh38]
Chr8:61591347..61591348 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1977C>T (p.Pro659=) |
single nucleotide variant |
CHARGE association [RCV002058740]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000312397] |
Chr8:60781311 [GRCh38]
Chr8:61693870 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) |
single nucleotide variant |
CHARGE association [RCV000381415]|CHARGE association [RCV000766019]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000326831] |
Chr8:60823937 [GRCh38]
Chr8:61736496 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.-481G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000327102] |
Chr8:60678776 [GRCh38]
Chr8:61591335 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3779-10A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000342613] |
Chr8:60836063 [GRCh38]
Chr8:61748622 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5211-11T>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000290247] |
Chr8:60848504 [GRCh38]
Chr8:61761063 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7044T>G (p.Gly2348=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000384689] |
Chr8:60856082 [GRCh38]
Chr8:61768641 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2613+4C>T |
single nucleotide variant |
CHARGE association [RCV001372712]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000397084]|not provided [RCV001697784]|not specified [RCV001821107] |
Chr8:60816505 [GRCh38]
Chr8:61729064 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3414_3430del (p.Gln1138fs) |
deletion |
Inborn genetic diseases [RCV000622357] |
Chr8:60828698..60828714 [GRCh38]
Chr8:61741257..61741273 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.380del (p.Pro127fs) |
deletion |
not provided [RCV000301751] |
Chr8:60741810 [GRCh38]
Chr8:61654369 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.-298C>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000359477] |
Chr8:60678959 [GRCh38]
Chr8:61591518 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2848del (p.Ala950fs) |
deletion |
not provided [RCV000328408] |
Chr8:60822036 [GRCh38]
Chr8:61734595 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.-327C>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000360435] |
Chr8:60678930 [GRCh38]
Chr8:61591489 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.3(CHD7):c.*2104T>A |
single nucleotide variant |
CHARGE association [RCV000391403]|Hypogonadism with anosmia [RCV000302370] |
Chr8:60868037 [GRCh38]
Chr8:61780596 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) |
deletion |
CHARGE association [RCV000802920]|not provided [RCV000627640] |
Chr8:60781134..60781137 [GRCh38]
Chr8:61693693..61693696 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8932G>A (p.Gly2978Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000623006] |
Chr8:60865871 [GRCh38]
Chr8:61778430 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5380C>G (p.Leu1794Val) |
single nucleotide variant |
Inborn genetic diseases [RCV000624826] |
Chr8:60849130 [GRCh38]
Chr8:61761689 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2178_2179insCTAA (p.Asp728fs) |
insertion |
not provided [RCV000598712] |
Chr8:60795067..60795068 [GRCh38]
Chr8:61707626..61707627 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg) |
single nucleotide variant |
CHARGE association [RCV003105979]|Inborn genetic diseases [RCV002368025]|not provided [RCV000596504] |
Chr8:60853407 [GRCh38]
Chr8:61765966 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.364C>T (p.Gln122Ter) |
single nucleotide variant |
not provided [RCV000598561] |
Chr8:60741796 [GRCh38]
Chr8:61654355 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys) |
single nucleotide variant |
CHARGE association [RCV001860144]|CHARGE association [RCV002476278]|not provided [RCV000588241] |
Chr8:60821922 [GRCh38]
Chr8:61734481 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5050+1G>A |
single nucleotide variant |
not provided [RCV000599014] |
Chr8:60845064 [GRCh38]
Chr8:61757623 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2413dup (p.Ile805fs) |
duplication |
not provided [RCV000598762] |
Chr8:60801558..60801559 [GRCh38]
Chr8:61714117..61714118 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7524del (p.Pro2508_Met2509insTer) |
deletion |
not provided [RCV000599002] |
Chr8:60856802 [GRCh38]
Chr8:61769361 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) |
single nucleotide variant |
CHARGE association [RCV000988070]|not provided [RCV000599064] |
Chr8:60862599 [GRCh38]
Chr8:61775158 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5044del (p.His1682fs) |
deletion |
not provided [RCV000599397] |
Chr8:60845056 [GRCh38]
Chr8:61757615 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1326C>A (p.Ala442=) |
single nucleotide variant |
CHARGE association [RCV001084059]|CHD7-related condition [RCV003925758]|Inborn genetic diseases [RCV002384287]|not provided [RCV000589149]|not specified [RCV001821714] |
Chr8:60742758 [GRCh38]
Chr8:61655317 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7281dup (p.Arg2428fs) |
duplication |
Inborn genetic diseases [RCV000623612] |
Chr8:60856559..60856560 [GRCh38]
Chr8:61769118..61769119 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4203T>C (p.His1401=) |
single nucleotide variant |
not specified [RCV000606718] |
Chr8:60837685 [GRCh38]
Chr8:61750244 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8076+8C>A |
single nucleotide variant |
not provided [RCV000596782] |
Chr8:60862660 [GRCh38]
Chr8:61775219 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1061del (p.Pro354fs) |
deletion |
CHARGE association [RCV003152718]|not provided [RCV000599588] |
Chr8:60742491 [GRCh38]
Chr8:61655050 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.6692C>G (p.Ser2231Cys) |
single nucleotide variant |
CHARGE association [RCV002528648]|not specified [RCV000603332] |
Chr8:60853417 [GRCh38]
Chr8:61765976 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.2990del (p.Leu997fs) |
deletion |
CHARGE association [RCV000626339] |
Chr8:60822533 [GRCh38]
Chr8:61735092 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) |
single nucleotide variant |
CHARGE association [RCV001854082]|not provided [RCV000727319] |
Chr8:60742343 [GRCh38]
Chr8:61654902 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg) |
single nucleotide variant |
CHARGE association [RCV002532648]|not provided [RCV000598100] |
Chr8:60742931 [GRCh38]
Chr8:61655490 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.499C>A (p.Pro167Thr) |
single nucleotide variant |
not provided [RCV000730240] |
Chr8:60741931 [GRCh38]
Chr8:61654490 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) |
single nucleotide variant |
CHARGE association [RCV000462388]|CHD7-related condition [RCV003401401]|not specified [RCV000414671] |
Chr8:60853029 [GRCh38]
Chr8:61765588 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1908G>A (p.Gly636=) |
single nucleotide variant |
CHARGE association [RCV000768179] |
Chr8:60781242 [GRCh38]
Chr8:61693801 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4034G>T (p.Arg1345Leu) |
single nucleotide variant |
not provided [RCV001760596] |
Chr8:60836861 [GRCh38]
Chr8:61749420 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter) |
single nucleotide variant |
Poor coordination [RCV000415206] |
Chr8:60854479 [GRCh38]
Chr8:61767038 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8105G>A (p.Arg2702His) |
single nucleotide variant |
CHARGE association [RCV002535320]|not provided [RCV000733278] |
Chr8:60865044 [GRCh38]
Chr8:61777603 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1327A>G (p.Met443Val) |
single nucleotide variant |
CHARGE association [RCV002535215]|not provided [RCV000731555] |
Chr8:60742759 [GRCh38]
Chr8:61655318 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala) |
single nucleotide variant |
CHARGE association [RCV001211674]|not provided [RCV000733658] |
Chr8:60742966 [GRCh38]
Chr8:61655525 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6757G>T (p.Glu2253Ter) |
single nucleotide variant |
not provided [RCV000412832] |
Chr8:60853482 [GRCh38]
Chr8:61766041 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6734del (p.Leu2245fs) |
deletion |
CHARGE association [RCV000723279] |
Chr8:60853459 [GRCh38]
Chr8:61766018 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8076+1G>C |
single nucleotide variant |
CHARGE association [RCV000735247]|not provided [RCV001662798] |
Chr8:60862653 [GRCh38]
Chr8:61775212 [GRCh37]
Chr8:8q12.2 |
pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.2977G>T (p.Asp993Tyr) |
single nucleotide variant |
not specified [RCV000412894] |
Chr8:60822522 [GRCh38]
Chr8:61735081 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.495_500dup (p.164_165QP[4]) |
duplication |
CHARGE association [RCV002533755]|not specified [RCV000736065] |
Chr8:60741921..60741922 [GRCh38]
Chr8:61654480..61654481 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6087C>T (p.Pro2029=) |
single nucleotide variant |
CHARGE association [RCV001394463] |
Chr8:60852690 [GRCh38]
Chr8:61765249 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) |
single nucleotide variant |
CHARGE association [RCV000414784] |
Chr8:60862639 [GRCh38]
Chr8:61775198 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5177_5190delinsT (p.Ser1726fs) |
indel |
not provided [RCV000413631] |
Chr8:60845376..60845389 [GRCh38]
Chr8:61757935..61757948 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7655dup (p.Pro2553fs) |
duplication |
not provided [RCV000413712] |
Chr8:60860946..60860947 [GRCh38]
Chr8:61773505..61773506 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) |
single nucleotide variant |
CHARGE association [RCV000542683] |
Chr8:60781069 [GRCh38]
Chr8:61693628 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.5315G>A (p.Trp1772Ter) |
single nucleotide variant |
not provided [RCV000413976] |
Chr8:60849065 [GRCh38]
Chr8:61761624 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) |
single nucleotide variant |
CHARGE association [RCV001809789]|not provided [RCV000727588] |
Chr8:60836842 [GRCh38]
Chr8:61749401 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4533+5G>C |
single nucleotide variant |
not provided [RCV003221595] |
Chr8:60838260 [GRCh38]
Chr8:61750819 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4793C>G (p.Ser1598Ter) |
single nucleotide variant |
not provided [RCV000728187] |
Chr8:60841995 [GRCh38]
Chr8:61754554 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) |
single nucleotide variant |
CHARGE association [RCV000553452]|CHD7-related condition [RCV003905349] |
Chr8:60742036 [GRCh38]
Chr8:61654595 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) |
single nucleotide variant |
CHARGE association [RCV000866828]|CHARGE association [RCV002481313]|CHD7-related condition [RCV003970176]|not provided [RCV001697848] |
Chr8:60852833 [GRCh38]
Chr8:61765392 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001266874]|not provided [RCV000445135] |
Chr8:60822604 [GRCh38]
Chr8:61735163 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) |
single nucleotide variant |
CHARGE association [RCV000696512]|CHD7-related condition [RCV003902475]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164558]|Inborn genetic diseases [RCV002318379]|not provided [RCV001705556]|not specified [RCV001821158] |
Chr8:60853500 [GRCh38]
Chr8:61766059 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4851-7T>G |
single nucleotide variant |
not provided [RCV000442128] |
Chr8:60844857 [GRCh38]
Chr8:61757416 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4026C>T (p.Gly1342=) |
single nucleotide variant |
not provided [RCV000418787] |
Chr8:60836853 [GRCh38]
Chr8:61749412 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3989+9C>T |
single nucleotide variant |
CHARGE association [RCV001503086]|CHARGE association [RCV002488942]|not specified [RCV000425123] |
Chr8:60836292 [GRCh38]
Chr8:61748851 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1179A>T (p.Pro393=) |
single nucleotide variant |
CHARGE association [RCV003603052]|not specified [RCV000435755] |
Chr8:60742611 [GRCh38]
Chr8:61655170 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4609A>T (p.Lys1537Ter) |
single nucleotide variant |
not provided [RCV000423451] |
Chr8:60841719 [GRCh38]
Chr8:61754278 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln) |
single nucleotide variant |
CHARGE association [RCV003766218]|CHD7-related condition [RCV003409592]|not specified [RCV000429014] |
Chr8:60854438 [GRCh38]
Chr8:61766997 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly) |
single nucleotide variant |
CHARGE association [RCV001865337]|not provided [RCV000426210] |
Chr8:60841989 [GRCh38]
Chr8:61754548 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter) |
single nucleotide variant |
CHARGE association [RCV001390950]|not provided [RCV000427644] |
Chr8:60742602 [GRCh38]
Chr8:61655161 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) |
single nucleotide variant |
CHARGE association [RCV001045040]|not provided [RCV000434719] |
Chr8:60837729 [GRCh38]
Chr8:61750288 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7332A>G (p.Leu2444=) |
single nucleotide variant |
CHARGE association [RCV002521565]|CHD7-related condition [RCV003942346]|not specified [RCV000426534] |
Chr8:60856612 [GRCh38]
Chr8:61769171 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1281T>A (p.Tyr427Ter) |
single nucleotide variant |
not provided [RCV000436386] |
Chr8:60742713 [GRCh38]
Chr8:61655272 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5665+9C>T |
single nucleotide variant |
CHARGE association [RCV001495745]|not specified [RCV000420310] |
Chr8:60851328 [GRCh38]
Chr8:61763887 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) |
single nucleotide variant |
CHARGE association [RCV000634450]|CHD7-related condition [RCV003959884]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162608]|Inborn genetic diseases [RCV002429370]|not provided [RCV001720013] |
Chr8:60865189 [GRCh38]
Chr8:61777748 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.6175G>T (p.Glu2059Ter) |
single nucleotide variant |
not provided [RCV000438702] |
Chr8:60852900 [GRCh38]
Chr8:61765459 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh37/hg19 8q12.2(chr8:61729070-61729213)x1 |
copy number loss |
See cases [RCV000445824] |
Chr8:61729070..61729213 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1123C>T (p.Gln375Ter) |
single nucleotide variant |
not provided [RCV000441742] |
Chr8:60742555 [GRCh38]
Chr8:61655114 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) |
single nucleotide variant |
CHARGE association [RCV000417049] |
Chr8:60742984 [GRCh38]
Chr8:61655543 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) |
single nucleotide variant |
CHARGE association [RCV000458917]|CHARGE association [RCV002506128]|not provided [RCV001547278] |
Chr8:60853003 [GRCh38]
Chr8:61765562 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3232C>T (p.His1078Tyr) |
single nucleotide variant |
not provided [RCV000480751] |
Chr8:60823870 [GRCh38]
Chr8:61736429 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.207del (p.Phe69fs) |
deletion |
not provided [RCV000481309] |
Chr8:60741636 [GRCh38]
Chr8:61654195 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7629del (p.Ala2544fs) |
deletion |
not provided [RCV000481551] |
Chr8:60860922 [GRCh38]
Chr8:61773481 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6596G>A (p.Ser2199Asn) |
single nucleotide variant |
CHARGE association [RCV003766686]|not provided [RCV000479644] |
Chr8:60853321 [GRCh38]
Chr8:61765880 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3905_3906dup (p.Lys1303Ter) |
duplication |
not provided [RCV000481790] |
Chr8:60836198..60836199 [GRCh38]
Chr8:61748757..61748758 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2052del (p.Ala685fs) |
deletion |
not provided [RCV000481976] |
Chr8:60781384 [GRCh38]
Chr8:61693943 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6589G>A (p.Asp2197Asn) |
single nucleotide variant |
CHARGE association [RCV001851198]|Inborn genetic diseases [RCV002525856]|not provided [RCV001722399] |
Chr8:60853314 [GRCh38]
Chr8:61765873 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4858C>T (p.Arg1620Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002341145]|not provided [RCV000484084] |
Chr8:60844871 [GRCh38]
Chr8:61757430 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4985del (p.Ser1662fs) |
deletion |
CHARGE association [RCV000456117] |
Chr8:60844998 [GRCh38]
Chr8:61757557 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1058del (p.Phe353fs) |
deletion |
CHARGE association [RCV000467254] |
Chr8:60742489 [GRCh38]
Chr8:61655048 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6292del (p.Arg2098fs) |
deletion |
CHARGE association [RCV000474707] |
Chr8:60853016 [GRCh38]
Chr8:61765575 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2383_2384del (p.Ser794_Val795insTer) |
deletion |
not provided [RCV000482114] |
Chr8:60801533..60801534 [GRCh38]
Chr8:61714092..61714093 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) |
single nucleotide variant |
CHARGE association [RCV000853243]|CHD7-related condition [RCV003902723]|not provided [RCV000482183] |
Chr8:60862244 [GRCh38]
Chr8:61774803 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7647dup (p.Glu2550fs) |
duplication |
not provided [RCV000482479] |
Chr8:60860941..60860942 [GRCh38]
Chr8:61773500..61773501 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) |
single nucleotide variant |
CHARGE association [RCV001064858]|not provided [RCV000480035] |
Chr8:60852918 [GRCh38]
Chr8:61765477 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) |
single nucleotide variant |
CHARGE association [RCV003335372]|not provided [RCV000484354] |
Chr8:60849131 [GRCh38]
Chr8:61761690 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) |
single nucleotide variant |
CHARGE association [RCV000471269]|CHARGE association [RCV002489132]|Inborn genetic diseases [RCV002446908]|not provided [RCV001672798]|not specified [RCV001194048] |
Chr8:60865416 [GRCh38]
Chr8:61777975 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.7297del (p.Val2433fs) |
deletion |
CHARGE association [RCV001253666]|not provided [RCV000482952] |
Chr8:60856576 [GRCh38]
Chr8:61769135 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3226_3227del (p.Lys1076fs) |
deletion |
not provided [RCV000483407] |
Chr8:60823864..60823865 [GRCh38]
Chr8:61736423..61736424 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala) |
single nucleotide variant |
CHARGE association [RCV001216906]|not provided [RCV000484850] |
Chr8:60742492 [GRCh38]
Chr8:61655051 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) |
single nucleotide variant |
CHARGE association [RCV000464132] |
Chr8:60822638 [GRCh38]
Chr8:61735197 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4533G>A (p.Lys1511=) |
single nucleotide variant |
not provided [RCV000483704] |
Chr8:60838255 [GRCh38]
Chr8:61750814 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln) |
single nucleotide variant |
CHARGE association [RCV001851193]|CHD7-related condition [RCV003409660]|not provided [RCV000485070] |
Chr8:60856818 [GRCh38]
Chr8:61769377 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3202-3T>G |
single nucleotide variant |
CHARGE association [RCV000460607] |
Chr8:60823837 [GRCh38]
Chr8:61736396 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2568del (p.Lys857fs) |
deletion |
CHARGE association [RCV000464453] |
Chr8:60816455 [GRCh38]
Chr8:61729014 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6163_6164del (p.Leu2055fs) |
microsatellite |
CHARGE association [RCV000475738] |
Chr8:60852886..60852887 [GRCh38]
Chr8:61765445..61765446 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.961_962delinsTA (p.Gly321Ter) |
indel |
not provided [RCV000484055] |
Chr8:60742393..60742394 [GRCh38]
Chr8:61654952..61654953 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3322C>T (p.His1108Tyr) |
single nucleotide variant |
not provided [RCV000485400] |
Chr8:60823960 [GRCh38]
Chr8:61736519 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.3807del (p.Phe1269fs) |
deletion |
not provided [RCV000484664] |
Chr8:60836099 [GRCh38]
Chr8:61748658 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3157C>T (p.Arg1053Cys) |
single nucleotide variant |
not provided [RCV000485689] |
Chr8:60822702 [GRCh38]
Chr8:61735261 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3746G>A (p.Arg1249Gln) |
single nucleotide variant |
not provided [RCV000485822] |
Chr8:60830545 [GRCh38]
Chr8:61743104 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.475C>G (p.Pro159Ala) |
single nucleotide variant |
not provided [RCV000486092] |
Chr8:60741907 [GRCh38]
Chr8:61654466 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2457G>A (p.Glu819=) |
single nucleotide variant |
CHARGE association [RCV000457523] |
Chr8:60808231 [GRCh38]
Chr8:61720790 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2613+1del |
deletion |
CHARGE association [RCV000457698] |
Chr8:60816501 [GRCh38]
Chr8:61729060 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.2097-1G>C |
single nucleotide variant |
CHARGE association [RCV000468880] |
Chr8:60794985 [GRCh38]
Chr8:61707544 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3522+1del |
deletion |
not provided [RCV000478057] |
Chr8:60828806 [GRCh38]
Chr8:61741365 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6994dup (p.Trp2332fs) |
duplication |
not provided [RCV000478076] |
Chr8:60856031..60856032 [GRCh38]
Chr8:61768590..61768591 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4088T>A (p.Leu1363His) |
single nucleotide variant |
not provided [RCV000485513] |
Chr8:60836915 [GRCh38]
Chr8:61749474 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu) |
single nucleotide variant |
CHARGE association [RCV003603056]|not provided [RCV000481972] |
Chr8:60795081 [GRCh38]
Chr8:61707640 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6377A>T (p.Asp2126Val) |
single nucleotide variant |
CHARGE association [RCV003497853]|not provided [RCV000486326] |
Chr8:60853102 [GRCh38]
Chr8:61765661 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1753G>T (p.Asp585Tyr) |
single nucleotide variant |
not provided [RCV000486414] |
Chr8:60781087 [GRCh38]
Chr8:61693646 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5211-1G>C |
single nucleotide variant |
CHARGE association [RCV000457833] |
Chr8:60848514 [GRCh38]
Chr8:61761073 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln) |
single nucleotide variant |
CHARGE association [RCV000468988] |
Chr8:60836283 [GRCh38]
Chr8:61748842 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4507G>T (p.Glu1503Ter) |
single nucleotide variant |
not provided [RCV000485855] |
Chr8:60838229 [GRCh38]
Chr8:61750788 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5995G>A (p.Ala1999Thr) |
single nucleotide variant |
not provided [RCV000482290] |
Chr8:60852598 [GRCh38]
Chr8:61765157 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7261A>G (p.Met2421Val) |
single nucleotide variant |
not provided [RCV000486584] |
Chr8:60856541 [GRCh38]
Chr8:61769100 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) |
single nucleotide variant |
CHARGE association [RCV000554486] |
Chr8:60853198 [GRCh38]
Chr8:61765757 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) |
single nucleotide variant |
CHARGE association [RCV000472945]|Inborn genetic diseases [RCV002348330]|not provided [RCV001584166] |
Chr8:60850547 [GRCh38]
Chr8:61763106 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.236A>G (p.Lys79Arg) |
single nucleotide variant |
not provided [RCV000478136] |
Chr8:60741668 [GRCh38]
Chr8:61654227 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8518del (p.Thr2840fs) |
deletion |
not provided [RCV000479418] |
Chr8:60865457 [GRCh38]
Chr8:61778016 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6239T>C (p.Leu2080Pro) |
single nucleotide variant |
not provided [RCV000479492] |
Chr8:60852964 [GRCh38]
Chr8:61765523 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) |
single nucleotide variant |
CHARGE association [RCV000763600]|CHARGE association [RCV001366746]|Inborn genetic diseases [RCV000624092]|not provided [RCV000479619] |
Chr8:60828682 [GRCh38]
Chr8:61741241 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.961G>T (p.Gly321Ter) |
single nucleotide variant |
not provided [RCV000486665] |
Chr8:60742393 [GRCh38]
Chr8:61654952 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) |
single nucleotide variant |
CHARGE association [RCV000469838] |
Chr8:60856592 [GRCh38]
Chr8:61769151 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4407T>G (p.Tyr1469Ter) |
single nucleotide variant |
not provided [RCV000480102] |
Chr8:60838129 [GRCh38]
Chr8:61750688 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del) |
microsatellite |
CHARGE association [RCV001392601]|CHD7-related condition [RCV003962340]|Inborn genetic diseases [RCV002313250]|not provided [RCV000483011] |
Chr8:60795090..60795092 [GRCh38]
Chr8:61707649..61707651 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1264A>G (p.Met422Val) |
single nucleotide variant |
not provided [RCV000487421] |
Chr8:60742696 [GRCh38]
Chr8:61655255 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) |
single nucleotide variant |
CHARGE association [RCV000462550] |
Chr8:60856565 [GRCh38]
Chr8:61769124 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe) |
single nucleotide variant |
CHARGE association [RCV000473893]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162518]|not provided [RCV001653831] |
Chr8:60852980 [GRCh38]
Chr8:61765539 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) |
single nucleotide variant |
CHARGE association [RCV000864099]|CHD7-related condition [RCV003962375]|not provided [RCV001532146]|not specified [RCV000503888] |
Chr8:60865657 [GRCh38]
Chr8:61778216 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7603A>C (p.Ser2535Arg) |
single nucleotide variant |
not specified [RCV000504139] |
Chr8:60856883 [GRCh38]
Chr8:61769442 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) |
single nucleotide variant |
CHARGE association [RCV000554343]|CHARGE association [RCV001027816] |
Chr8:60822609 [GRCh38]
Chr8:61735168 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5960del (p.Pro1987fs) |
deletion |
not provided [RCV000497324] |
Chr8:60852561 [GRCh38]
Chr8:61765120 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.2273G>A (p.Arg758His) |
single nucleotide variant |
CHARGE association [RCV001243456]|CHD7-related condition [RCV003900037]|not provided [RCV000497870] |
Chr8:60800422 [GRCh38]
Chr8:61712981 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2722T>C (p.Trp908Arg) |
single nucleotide variant |
not specified [RCV000500185] |
Chr8:60821814 [GRCh38]
Chr8:61734373 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4112T>G (p.Leu1371Ter) |
single nucleotide variant |
not provided [RCV000498174] |
Chr8:60836939 [GRCh38]
Chr8:61749498 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3566G>A (p.Arg1189His) |
single nucleotide variant |
CHARGE association [RCV001865602]|not specified [RCV000500626] |
Chr8:60830365 [GRCh38]
Chr8:61742924 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3378+5G>T |
single nucleotide variant |
not provided [RCV000498581] |
Chr8:60824021 [GRCh38]
Chr8:61736580 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.310C>T (p.Gln104Ter) |
single nucleotide variant |
not provided [RCV000493513] |
Chr8:60741742 [GRCh38]
Chr8:61654301 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3130del (p.Val1044fs) |
deletion |
not provided [RCV000493601] |
Chr8:60822674 [GRCh38]
Chr8:61735233 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs) |
deletion |
CHARGE association [RCV000693442]|not provided [RCV000493813] |
Chr8:60852839..60852845 [GRCh38]
Chr8:61765398..61765404 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3859C>T (p.Gln1287Ter) |
single nucleotide variant |
not provided [RCV000578591] |
Chr8:60836153 [GRCh38]
Chr8:61748712 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) |
single nucleotide variant |
CHARGE association [RCV002490851]|CHARGE association [RCV002527347]|not specified [RCV000507212] |
Chr8:60865549 [GRCh38]
Chr8:61778108 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5405-13G>A |
single nucleotide variant |
CHARGE association [RCV000492168] |
Chr8:60850480 [GRCh38]
Chr8:61763039 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5405-18C>A |
single nucleotide variant |
CHARGE association [RCV000492724] |
Chr8:60850475 [GRCh38]
Chr8:61763034 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3433T>C (p.Phe1145Leu) |
single nucleotide variant |
not provided [RCV000493421] |
Chr8:60828717 [GRCh38]
Chr8:61741276 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5405-2A>G |
single nucleotide variant |
CHARGE association [RCV000495904] |
Chr8:60850491 [GRCh38]
Chr8:61763050 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) |
single nucleotide variant |
CHARGE association [RCV000496025] |
Chr8:60852059 [GRCh38]
Chr8:61764618 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.4835del (p.Asn1612fs) |
deletion |
CHARGE association [RCV000578158] |
Chr8:60842036 [GRCh38]
Chr8:61754595 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) |
single nucleotide variant |
CHARGE association [RCV000578162]|not provided [RCV000578888] |
Chr8:60822651 [GRCh38]
Chr8:61735210 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5895-3C>T |
single nucleotide variant |
CHARGE association [RCV001214160] |
Chr8:60852495 [GRCh38]
Chr8:61765054 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5401C>A (p.His1801Asn) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000494710] |
Chr8:60849151 [GRCh38]
Chr8:61761710 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.2083A>T (p.Ser695Cys) |
single nucleotide variant |
not provided [RCV003313640] |
Chr8:60781417 [GRCh38]
Chr8:61693976 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys) |
single nucleotide variant |
CHARGE association [RCV000556756]|not provided [RCV003314609] |
Chr8:60841651 [GRCh38]
Chr8:61754210 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) |
microsatellite |
CHARGE association [RCV000578387] |
Chr8:60852029..60852030 [GRCh38]
Chr8:61764588..61764589 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) |
single nucleotide variant |
CHARGE association [RCV000818234]|not provided [RCV000578551] |
Chr8:60852924 [GRCh38]
Chr8:61765483 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2114C>G (p.Ser705Ter) |
single nucleotide variant |
not provided [RCV000578850] |
Chr8:60795003 [GRCh38]
Chr8:61707562 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7971+1G>T |
single nucleotide variant |
CHARGE association [RCV000634417] |
Chr8:60862337 [GRCh38]
Chr8:61774896 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) |
single nucleotide variant |
CHARGE association [RCV000634420]|CHARGE association [RCV002492963]|Inborn genetic diseases [RCV002360535] |
Chr8:60742108 [GRCh38]
Chr8:61654667 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1925del (p.Lys642fs) |
deletion |
CHARGE association [RCV000634422] |
Chr8:60781253 [GRCh38]
Chr8:61693812 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser) |
single nucleotide variant |
CHARGE association [RCV000634423] |
Chr8:60865265 [GRCh38]
Chr8:61777824 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) |
single nucleotide variant |
CHARGE association [RCV000634425] |
Chr8:60800509 [GRCh38]
Chr8:61713068 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) |
single nucleotide variant |
CHARGE association [RCV000634426] |
Chr8:60822575 [GRCh38]
Chr8:61735134 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.482A>G (p.Gln161Arg) |
single nucleotide variant |
CHARGE association [RCV000634427] |
Chr8:60741914 [GRCh38]
Chr8:61654473 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.478del (p.Tyr160fs) |
deletion |
CHARGE association [RCV000634428] |
Chr8:60741910 [GRCh38]
Chr8:61654469 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.524C>T (p.Ser175Leu) |
single nucleotide variant |
CHARGE association [RCV000634429] |
Chr8:60741956 [GRCh38]
Chr8:61654515 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2726_2728del (p.Cys909del) |
deletion |
CHARGE association [RCV000634430] |
Chr8:60821817..60821819 [GRCh38]
Chr8:61734376..61734378 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp) |
single nucleotide variant |
CHARGE association [RCV000634439]|CHARGE association [RCV002477391]|Inborn genetic diseases [RCV002317385]|not provided [RCV001507734] |
Chr8:60836282 [GRCh38]
Chr8:61748841 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) |
single nucleotide variant |
CHARGE association [RCV000634440]|CHARGE association [RCV002477392]|not provided [RCV001563458] |
Chr8:60781061 [GRCh38]
Chr8:61693620 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) |
single nucleotide variant |
Amenorrhea [RCV001849422]|CHARGE association [RCV000634442]|CHARGE association [RCV002499049]|Inborn genetic diseases [RCV002317386]|not provided [RCV000729031] |
Chr8:60852177 [GRCh38]
Chr8:61764736 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) |
single nucleotide variant |
CHARGE association [RCV000634445] |
Chr8:60836916 [GRCh38]
Chr8:61749475 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1737G>A (p.Gln579=) |
single nucleotide variant |
CHARGE association [RCV000634448]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162307]|Inborn genetic diseases [RCV002317387]|not provided [RCV001539970] |
Chr8:60781071 [GRCh38]
Chr8:61693630 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7086C>T (p.Ser2362=) |
single nucleotide variant |
CHARGE association [RCV000634455]|CHD7-related condition [RCV003945598]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159638]|Inborn genetic diseases [RCV002360537] |
Chr8:60856124 [GRCh38]
Chr8:61768683 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly) |
single nucleotide variant |
CHARGE association [RCV000634416] |
Chr8:60822093 [GRCh38]
Chr8:61734652 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) |
single nucleotide variant |
CHARGE association [RCV000867188]|CHARGE association [RCV002497258]|CHD7-related condition [RCV003935603]|Inborn genetic diseases [RCV002317336]|not provided [RCV001541469]|not specified [RCV000594650] |
Chr8:60856593 [GRCh38]
Chr8:61769152 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) |
single nucleotide variant |
CHARGE association [RCV000558253] |
Chr8:60848542 [GRCh38]
Chr8:61761101 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) |
single nucleotide variant |
CHARGE association [RCV000536737]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160694] |
Chr8:60742713 [GRCh38]
Chr8:61655272 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) |
single nucleotide variant |
CHARGE association [RCV000537112] |
Chr8:60861058 [GRCh38]
Chr8:61773617 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.2381C>T (p.Ser794Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV000623491] |
Chr8:60801532 [GRCh38]
Chr8:61714091 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3200A>C (p.Gln1067Pro) |
single nucleotide variant |
not provided [RCV003327779] |
Chr8:60822745 [GRCh38]
Chr8:61735304 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5271G>A (p.Ala1757=) |
single nucleotide variant |
CHARGE association [RCV001430005]|Inborn genetic diseases [RCV002350210]|not specified [RCV001821515] |
Chr8:60848575 [GRCh38]
Chr8:61761134 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5387T>A (p.Ile1796Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV000624066] |
Chr8:60849137 [GRCh38]
Chr8:61761696 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5607+11G>A |
single nucleotide variant |
CHARGE association [RCV002066827]|CHARGE association [RCV002498984]|not specified [RCV000601318] |
Chr8:60851115 [GRCh38]
Chr8:61763674 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5534+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV000624641] |
Chr8:60850623 [GRCh38]
Chr8:61763182 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2739T>C (p.Tyr913=) |
single nucleotide variant |
Inborn genetic diseases [RCV003288439] |
Chr8:60821831 [GRCh38]
Chr8:61734390 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1740_1744delinsTC (p.Val581_Lys582delinsGln) |
indel |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV000625561] |
Chr8:60781074..60781078 [GRCh38]
Chr8:61693633..61693637 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) |
single nucleotide variant |
Atrial septal defect [RCV000626944] |
Chr8:60822055 [GRCh38]
Chr8:61734614 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) |
single nucleotide variant |
CHARGE association [RCV000627047]|not provided [RCV001591403] |
Chr8:60856562 [GRCh38]
Chr8:61769121 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6323G>A (p.Gly2108Glu) |
single nucleotide variant |
not provided [RCV003313402] |
Chr8:60853048 [GRCh38]
Chr8:61765607 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4746T>C (p.Asp1582=) |
single nucleotide variant |
CHARGE association [RCV002062986]|Inborn genetic diseases [RCV002311956]|not specified [RCV000615227] |
Chr8:60841948 [GRCh38]
Chr8:61754507 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) |
single nucleotide variant |
CHARGE association [RCV000559758] |
Chr8:60849059 [GRCh38]
Chr8:61761618 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2782A>G (p.Lys928Glu) |
single nucleotide variant |
CHARGE association [RCV003497988]|Inborn genetic diseases [RCV003280453] |
Chr8:60821874 [GRCh38]
Chr8:61734433 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln) |
single nucleotide variant |
CHARGE association [RCV001854018]|not provided [RCV000595997] |
Chr8:60848579 [GRCh38]
Chr8:61761138 [GRCh37]
Chr8:8q12.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8580_8581insT (p.Thr2861fs) |
insertion |
not provided [RCV003312719] |
Chr8:60865519..60865520 [GRCh38]
Chr8:61778078..61778079 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5218C>T (p.Leu1740=) |
single nucleotide variant |
not specified [RCV000616156] |
Chr8:60848522 [GRCh38]
Chr8:61761081 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8193C>T (p.Ala2731=) |
single nucleotide variant |
CHARGE association [RCV001438468]|CHD7-related condition [RCV003962676]|not provided [RCV000594987] |
Chr8:60865132 [GRCh38]
Chr8:61777691 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser) |
single nucleotide variant |
CHARGE association [RCV000539027] |
Chr8:60822531 [GRCh38]
Chr8:61735090 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser) |
single nucleotide variant |
CHARGE association [RCV002531915]|Inborn genetic diseases [RCV000622791]|not provided [RCV001771841] |
Chr8:60742657 [GRCh38]
Chr8:61655216 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) |
single nucleotide variant |
CHARGE association [RCV000863236]|CHARGE association [RCV002491249]|CHD7-related condition [RCV003900373]|not provided [RCV001722592] |
Chr8:60830564 [GRCh38]
Chr8:61743123 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) |
single nucleotide variant |
CHARGE association [RCV001382047]|Inborn genetic diseases [RCV000623724]|not provided [RCV001570011] |
Chr8:60845063 [GRCh38]
Chr8:61757622 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.8334A>T (p.Gly2778=) |
single nucleotide variant |
not specified [RCV000608863] |
Chr8:60865273 [GRCh38]
Chr8:61777832 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn) |
single nucleotide variant |
CHARGE association [RCV000535790] |
Chr8:60849121 [GRCh38]
Chr8:61761680 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.98C>G (p.Pro33Arg) |
single nucleotide variant |
CHARGE association [RCV002066678]|CHD7-related condition [RCV003928018]|not provided [RCV001719089] |
Chr8:60741530 [GRCh38]
Chr8:61654089 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) |
single nucleotide variant |
CHARGE association [RCV003403368]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001329008]|not provided [RCV000579248] |
Chr8:60852571 [GRCh38]
Chr8:61765130 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.6143_6144del (p.Glu2048fs) |
microsatellite |
Inborn genetic diseases [RCV000623241] |
Chr8:60852866..60852867 [GRCh38]
Chr8:61765425..61765426 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3 |
copy number gain |
not provided [RCV000513326] |
Chr8:61750227..61750394 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5114dup (p.Val1706fs) |
duplication |
Inborn genetic diseases [RCV000623919] |
Chr8:60845311..60845312 [GRCh38]
Chr8:61757870..61757871 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) |
single nucleotide variant |
CHARGE association [RCV000634412] |
Chr8:60865431 [GRCh38]
Chr8:61777990 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) |
single nucleotide variant |
CHARGE association [RCV000634413]|CHARGE association [RCV000766023]|not provided [RCV001354975] |
Chr8:60856691 [GRCh38]
Chr8:61769250 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) |
single nucleotide variant |
CHARGE association [RCV000634418] |
Chr8:60781396 [GRCh38]
Chr8:61693955 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) |
single nucleotide variant |
CHARGE association [RCV000634421] |
Chr8:60742744 [GRCh38]
Chr8:61655303 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6936+6C>T |
single nucleotide variant |
CHARGE association [RCV000634431]|CHARGE association [RCV002492964] |
Chr8:60854529 [GRCh38]
Chr8:61767088 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) |
single nucleotide variant |
CHARGE association [RCV000634432] |
Chr8:60844916 [GRCh38]
Chr8:61757475 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) |
single nucleotide variant |
CHARGE association [RCV000634433] |
Chr8:60856170 [GRCh38]
Chr8:61768729 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) |
single nucleotide variant |
CHARGE association [RCV000634434]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159639] |
Chr8:60856146 [GRCh38]
Chr8:61768705 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7107C>A (p.Val2369=) |
single nucleotide variant |
CHARGE association [RCV000634435]|CHARGE association [RCV000766022]|not provided [RCV003318611] |
Chr8:60856145 [GRCh38]
Chr8:61768704 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) |
single nucleotide variant |
CHARGE association [RCV000634436]|CHARGE association [RCV000766024]|Inborn genetic diseases [RCV002404762] |
Chr8:60860968 [GRCh38]
Chr8:61773527 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) |
single nucleotide variant |
CHARGE association [RCV000634438] |
Chr8:60823985 [GRCh38]
Chr8:61736544 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) |
single nucleotide variant |
CHARGE association [RCV000634441]|CHARGE association [RCV000766018]|Inborn genetic diseases [RCV002311978]|not provided [RCV001613417] |
Chr8:60822028 [GRCh38]
Chr8:61734587 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7570C>T (p.Leu2524=) |
single nucleotide variant |
CHARGE association [RCV001425996]|not provided [RCV000634444]|not specified [RCV001816573] |
Chr8:60856850 [GRCh38]
Chr8:61769409 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7059A>G (p.Thr2353=) |
single nucleotide variant |
CHARGE association [RCV000634447] |
Chr8:60856097 [GRCh38]
Chr8:61768656 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) |
indel |
CHARGE association [RCV000634453]|Inborn genetic diseases [RCV002360536]|not provided [RCV001709676]|not specified [RCV000825057] |
Chr8:60856027..60856028 [GRCh38]
Chr8:61768586..61768587 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7972-10C>G |
single nucleotide variant |
CHARGE association [RCV000634456] |
Chr8:60862538 [GRCh38]
Chr8:61775097 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) |
single nucleotide variant |
CHARGE association [RCV000634459]|CHD7-related condition [RCV003918011]|Inborn genetic diseases [RCV002377371]|not provided [RCV001591412] |
Chr8:60865858 [GRCh38]
Chr8:61778417 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1029C>T (p.Ser343=) |
single nucleotide variant |
CHARGE association [RCV000634460]|CHD7-related condition [RCV003918012]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159330]|Inborn genetic diseases [RCV002311979]|not provided [RCV001527871] |
Chr8:60742461 [GRCh38]
Chr8:61655020 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NC_000008.11:g.(?_60741413)_(60865953_?)del |
deletion |
CHARGE association [RCV000634461] |
Chr8:60741413..60865953 [GRCh38]
Chr8:61653972..61778512 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5360A>C (p.Asp1787Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV000623035] |
Chr8:60849110 [GRCh38]
Chr8:61761669 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1808dup (p.Asn603fs) |
duplication |
Inborn genetic diseases [RCV000623092] |
Chr8:60781137..60781138 [GRCh38]
Chr8:61693696..61693697 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter) |
single nucleotide variant |
CHARGE association [RCV001270169]|Hearing impairment [RCV000626943] |
Chr8:60742945 [GRCh38]
Chr8:61655504 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.946A>G (p.Ser316Gly) |
single nucleotide variant |
not provided [RCV000659107] |
Chr8:60742378 [GRCh38]
Chr8:61654937 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7165-4A>G |
single nucleotide variant |
CHARGE association [RCV000664334] |
Chr8:60856441 [GRCh38]
Chr8:61769000 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met) |
single nucleotide variant |
CHARGE association [RCV002534274]|not provided [RCV000658195]|not specified [RCV003987649] |
Chr8:60856178 [GRCh38]
Chr8:61768737 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) |
single nucleotide variant |
CHARGE association [RCV000663356] |
Chr8:60828696 [GRCh38]
Chr8:61741255 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) |
single nucleotide variant |
CHARGE association [RCV000659294] |
Chr8:60742294 [GRCh38]
Chr8:61654853 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6885A>G (p.Ser2295=) |
single nucleotide variant |
CHARGE association [RCV000960667]|Inborn genetic diseases [RCV002313539] |
Chr8:60854472 [GRCh38]
Chr8:61767031 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.556A>G (p.Met186Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002313555] |
Chr8:60741988 [GRCh38]
Chr8:61654547 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.127A>G (p.Ile43Val) |
single nucleotide variant |
CHARGE association [RCV000862090]|CHD7-related condition [RCV003928204]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162203]|Inborn genetic diseases [RCV002315308]|not provided [RCV001538105] |
Chr8:60741559 [GRCh38]
Chr8:61654118 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.583C>T (p.Arg195Cys) |
single nucleotide variant |
CHARGE association [RCV001862047]|Inborn genetic diseases [RCV002315387] |
Chr8:60742015 [GRCh38]
Chr8:61654574 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2946T>C (p.Asn982=) |
single nucleotide variant |
CHARGE association [RCV001447354]|Inborn genetic diseases [RCV002318647]|not provided [RCV001662794] |
Chr8:60822134 [GRCh38]
Chr8:61734693 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.399G>T (p.Arg133Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002318768] |
Chr8:60741831 [GRCh38]
Chr8:61654390 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2357C>T (p.Thr786Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002316744] |
Chr8:60800506 [GRCh38]
Chr8:61713065 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1968G>A (p.Pro656=) |
single nucleotide variant |
CHARGE association [RCV001422365]|Inborn genetic diseases [RCV002316792] |
Chr8:60781302 [GRCh38]
Chr8:61693861 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.257C>G (p.Pro86Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002317461] |
Chr8:60741689 [GRCh38]
Chr8:61654248 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) |
single nucleotide variant |
CHARGE association [RCV000679948] |
Chr8:60781430 [GRCh38]
Chr8:61693989 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.282del (p.Asn96fs) |
deletion |
CHARGE association [RCV000679949] |
Chr8:60741714 [GRCh38]
Chr8:61654273 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6103+9A>G |
single nucleotide variant |
CHARGE association [RCV001196764] |
Chr8:60852715 [GRCh38]
Chr8:61765274 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7972A>G (p.Met2658Val) |
single nucleotide variant |
CHARGE association [RCV002477944]|not provided [RCV001760529] |
Chr8:60862548 [GRCh38]
Chr8:61775107 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) |
single nucleotide variant |
CHARGE association [RCV000714750] |
Chr8:60830509 [GRCh38]
Chr8:61743068 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) |
single nucleotide variant |
CHARGE association [RCV001087413]|CHARGE association [RCV003224382]|CHD7-related condition [RCV003945735]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164338]|Inborn genetic diseases [RCV002312290]|not provided [RCV000730848] |
Chr8:60795074 [GRCh38]
Chr8:61707633 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.289G>A (p.Gly97Arg) |
single nucleotide variant |
CHARGE association [RCV001245346]|Inborn genetic diseases [RCV002312440] |
Chr8:60741721 [GRCh38]
Chr8:61654280 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2182G>C (p.Asp728His) |
single nucleotide variant |
Amenorrhea [RCV001849432]|CHARGE association [RCV001862029]|CHARGE association [RCV002477657]|Inborn genetic diseases [RCV002314484] |
Chr8:60795071 [GRCh38]
Chr8:61707630 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3928C>T (p.Leu1310Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002314604] |
Chr8:60836222 [GRCh38]
Chr8:61748781 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu) |
single nucleotide variant |
CHARGE association [RCV000700837]|CHD7-related condition [RCV003392537]|not provided [RCV003151808] |
Chr8:60781037 [GRCh38]
Chr8:61693596 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) |
deletion |
CHARGE association [RCV000677125] |
Chr8:60822093..60822108 [GRCh38]
Chr8:61734652..61734667 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.608A>G (p.His203Arg) |
single nucleotide variant |
CHARGE association [RCV000686909]|CHARGE association [RCV002507191]|Inborn genetic diseases [RCV002352118] |
Chr8:60742040 [GRCh38]
Chr8:61654599 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs) |
deletion |
CHARGE association [RCV000687270] |
Chr8:60854475..60854476 [GRCh38]
Chr8:61767034..61767035 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala) |
single nucleotide variant |
CHARGE association [RCV000702102]|Inborn genetic diseases [RCV002442510] |
Chr8:60865731 [GRCh38]
Chr8:61778290 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln) |
single nucleotide variant |
CHARGE association [RCV000702105] |
Chr8:60851085 [GRCh38]
Chr8:61763644 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2090del (p.Lys697fs) |
deletion |
CHARGE association [RCV000699166] |
Chr8:60781420 [GRCh38]
Chr8:61693979 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala) |
single nucleotide variant |
CHARGE association [RCV000701441] |
Chr8:60861070 [GRCh38]
Chr8:61773629 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1791GAA[2] (p.Lys602del) |
microsatellite |
CHARGE association [RCV000689706] |
Chr8:60781123..60781125 [GRCh38]
Chr8:61693682..61693684 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs) |
deletion |
CHARGE association [RCV000701495] |
Chr8:60865485..60865491 [GRCh38]
Chr8:61778044..61778050 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) |
single nucleotide variant |
Amenorrhea [RCV001849429]|CHARGE association [RCV000704909]|CHARGE association [RCV000768178]|CHD7-related condition [RCV003938045]|Inborn genetic diseases [RCV002386269]|not provided [RCV001092036] |
Chr8:60742807 [GRCh38]
Chr8:61655366 [GRCh37]
Chr8:8q12.2 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala) |
single nucleotide variant |
CHARGE association [RCV000690891]|Inborn genetic diseases [RCV002315991]|not provided [RCV000991793] |
Chr8:60781006 [GRCh38]
Chr8:61693565 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2787C>G (p.Ile929Met) |
single nucleotide variant |
CHARGE association [RCV001410442]|Inborn genetic diseases [RCV002312423] |
Chr8:60821879 [GRCh38]
Chr8:61734438 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8605T>C (p.Ser2869Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002312769] |
Chr8:60865544 [GRCh38]
Chr8:61778103 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8796C>T (p.Gly2932=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316123] |
Chr8:60865735 [GRCh38]
Chr8:61778294 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) |
single nucleotide variant |
CHARGE association [RCV002493280]|CHARGE association [RCV002533034]|Inborn genetic diseases [RCV002318772]|not specified [RCV000825896] |
Chr8:60836193 [GRCh38]
Chr8:61748752 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.917_921del (p.Asn306fs) |
deletion |
Inborn genetic diseases [RCV002316680] |
Chr8:60742347..60742351 [GRCh38]
Chr8:61654906..61654910 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.528G>A (p.Gly176=) |
single nucleotide variant |
CHARGE association [RCV003603072]|Inborn genetic diseases [RCV002316713] |
Chr8:60741960 [GRCh38]
Chr8:61654519 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln) |
single nucleotide variant |
CHARGE association [RCV001323810]|Inborn genetic diseases [RCV002316745]|not provided [RCV001585677] |
Chr8:60850517 [GRCh38]
Chr8:61763076 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6632C>T (p.Ala2211Val) |
single nucleotide variant |
CHARGE association [RCV003768153]|Inborn genetic diseases [RCV002317411] |
Chr8:60853357 [GRCh38]
Chr8:61765916 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4662del (p.Asp1554fs) |
deletion |
CHARGE association [RCV000705304] |
Chr8:60841864 [GRCh38]
Chr8:61754423 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) |
duplication |
CHARGE association [RCV000693970] |
Chr8:60838214..60838215 [GRCh38]
Chr8:61750773..61750774 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) |
single nucleotide variant |
CHARGE association [RCV000705652]|Inborn genetic diseases [RCV002343562] |
Chr8:60849139 [GRCh38]
Chr8:61761698 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.1657G>T (p.Val553Leu) |
single nucleotide variant |
CHARGE association [RCV000694214] |
Chr8:60743089 [GRCh38]
Chr8:61655648 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) |
single nucleotide variant |
CHARGE association [RCV000703681]|not provided [RCV001814222] |
Chr8:60856053 [GRCh38]
Chr8:61768612 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1]) |
microsatellite |
CHARGE association [RCV000714797] |
Chr8:60865214..60865222 [GRCh38]
Chr8:61777773..61777781 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8759G>C (p.Gly2920Ala) |
single nucleotide variant |
CHARGE association [RCV003768143]|Inborn genetic diseases [RCV002318677]|not provided [RCV001712785] |
Chr8:60865698 [GRCh38]
Chr8:61778257 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6167A>C (p.Tyr2056Ser) |
single nucleotide variant |
CHARGE association [RCV002507260]|CHARGE association [RCV003768152]|Inborn genetic diseases [RCV002316905] |
Chr8:60852892 [GRCh38]
Chr8:61765451 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) |
single nucleotide variant |
CHARGE association [RCV001211341]|CHARGE association [RCV002485812]|Inborn genetic diseases [RCV002316916] |
Chr8:60852973 [GRCh38]
Chr8:61765532 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg) |
single nucleotide variant |
CHARGE association [RCV000686272] |
Chr8:60865016 [GRCh38]
Chr8:61777575 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro) |
single nucleotide variant |
CHARGE association [RCV000703991] |
Chr8:60865602 [GRCh38]
Chr8:61778161 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) |
deletion |
CHARGE association [RCV000697516] |
Chr8:60808225..60808235 [GRCh38]
Chr8:61720784..61720794 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) |
single nucleotide variant |
CHARGE association [RCV000695249]|CHARGE association [RCV000766025] |
Chr8:60860997 [GRCh38]
Chr8:61773556 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6473del (p.Ser2158fs) |
deletion |
CHARGE association [RCV000704736] |
Chr8:60853198 [GRCh38]
Chr8:61765757 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) |
single nucleotide variant |
CHARGE association [RCV000695614] |
Chr8:60828663 [GRCh38]
Chr8:61741222 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) |
single nucleotide variant |
CHARGE association [RCV000704841] |
Chr8:60865713 [GRCh38]
Chr8:61778272 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) |
indel |
CHARGE association [RCV000704862]|not provided [RCV001772003] |
Chr8:60795036..60795037 [GRCh38]
Chr8:61707595..61707596 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.532C>G (p.Pro178Ala) |
single nucleotide variant |
CHARGE association [RCV000695880] |
Chr8:60741964 [GRCh38]
Chr8:61654523 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs) |
insertion |
CHARGE association [RCV000703134] |
Chr8:60795118..60795119 [GRCh38]
Chr8:61707677..61707678 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) |
single nucleotide variant |
CHARGE association [RCV000691104]|CHARGE association [RCV002477555]|not provided [RCV003326490] |
Chr8:60781102 [GRCh38]
Chr8:61693661 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg) |
single nucleotide variant |
CHARGE association [RCV000705262] |
Chr8:60841749 [GRCh38]
Chr8:61754308 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.718del (p.Gln240fs) |
deletion |
CHARGE association [RCV000696170] |
Chr8:60742147 [GRCh38]
Chr8:61654706 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs) |
deletion |
CHARGE association [RCV000696619] |
Chr8:60781285..60781288 [GRCh38]
Chr8:61693844..61693847 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) |
single nucleotide variant |
CHARGE association [RCV000703427]|CHARGE association [RCV002485744]|CHD7-related condition [RCV003392540] |
Chr8:60848574 [GRCh38]
Chr8:61761133 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5722A>C (p.Thr1908Pro) |
single nucleotide variant |
CHARGE association [RCV000691946] |
Chr8:60852075 [GRCh38]
Chr8:61764634 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.862C>A (p.Gln288Lys) |
single nucleotide variant |
CHARGE association [RCV000694516] |
Chr8:60742294 [GRCh38]
Chr8:61654853 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) |
single nucleotide variant |
CHARGE association [RCV000689551]|not provided [RCV001731891] |
Chr8:60836860 [GRCh38]
Chr8:61749419 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6776-4T>G |
single nucleotide variant |
Inborn genetic diseases [RCV002312297] |
Chr8:60854359 [GRCh38]
Chr8:61766918 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1245G>A (p.Pro415=) |
single nucleotide variant |
CHARGE association [RCV002060907]|CHARGE association [RCV002507255]|Inborn genetic diseases [RCV002316091]|not provided [RCV001585667] |
Chr8:60742677 [GRCh38]
Chr8:61655236 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6750G>A (p.Lys2250=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314521] |
Chr8:60853475 [GRCh38]
Chr8:61766034 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8692A>G (p.Met2898Val) |
single nucleotide variant |
CHARGE association [RCV001038902]|Inborn genetic diseases [RCV002313531]|not provided [RCV001546988] |
Chr8:60865631 [GRCh38]
Chr8:61778190 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1920A>G (p.Glu640=) |
single nucleotide variant |
CHARGE association [RCV000869216]|Inborn genetic diseases [RCV002313611] |
Chr8:60781254 [GRCh38]
Chr8:61693813 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8640G>A (p.Pro2880=) |
single nucleotide variant |
CHARGE association [RCV001050954]|Inborn genetic diseases [RCV002318630] |
Chr8:60865579 [GRCh38]
Chr8:61778138 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5589G>A (p.Pro1863=) |
single nucleotide variant |
CHARGE association [RCV001400148]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159525]|Inborn genetic diseases [RCV002314400]|not provided [RCV001312177] |
Chr8:60851086 [GRCh38]
Chr8:61763645 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5660C>G (p.Ala1887Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002314536] |
Chr8:60851314 [GRCh38]
Chr8:61763873 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2200T>C (p.Ser734Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002314552] |
Chr8:60795089 [GRCh38]
Chr8:61707648 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7530G>A (p.Lys2510=) |
single nucleotide variant |
CHARGE association [RCV003497878]|Inborn genetic diseases [RCV002314579] |
Chr8:60856810 [GRCh38]
Chr8:61769369 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8954A>G (p.Asp2985Gly) |
single nucleotide variant |
CHARGE association [RCV001862035]|Inborn genetic diseases [RCV002313468] |
Chr8:60865893 [GRCh38]
Chr8:61778452 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7800T>G (p.Thr2600=) |
single nucleotide variant |
CHARGE association [RCV000866064]|Inborn genetic diseases [RCV002313568]|not provided [RCV001595036] |
Chr8:60861095 [GRCh38]
Chr8:61773654 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7283G>A (p.Arg2428Gln) |
single nucleotide variant |
CHARGE association [RCV003603069]|CHD7-related condition [RCV003411655]|Inborn genetic diseases [RCV002313579] |
Chr8:60856563 [GRCh38]
Chr8:61769122 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) |
single nucleotide variant |
CHARGE association [RCV001862041]|Inborn genetic diseases [RCV002313633]|not specified [RCV000825138] |
Chr8:60865533 [GRCh38]
Chr8:61778092 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1959G>A (p.Pro653=) |
single nucleotide variant |
CHARGE association [RCV000882150]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162310]|Inborn genetic diseases [RCV002315416] |
Chr8:60781293 [GRCh38]
Chr8:61693852 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu) |
single nucleotide variant |
CHARGE association [RCV000818015]|Inborn genetic diseases [RCV002318653] |
Chr8:60856056 [GRCh38]
Chr8:61768615 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8769A>G (p.Ala2923=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316684] |
Chr8:60865708 [GRCh38]
Chr8:61778267 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2813G>C (p.Arg938Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002316811] |
Chr8:60821905 [GRCh38]
Chr8:61734464 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8367G>A (p.Ala2789=) |
single nucleotide variant |
CHARGE association [RCV001477668]|CHARGE association [RCV002493284]|Inborn genetic diseases [RCV002317467] |
Chr8:60865306 [GRCh38]
Chr8:61777865 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8067T>G (p.Val2689=) |
single nucleotide variant |
CHARGE association [RCV003497880]|Inborn genetic diseases [RCV002317506] |
Chr8:60862643 [GRCh38]
Chr8:61775202 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2443-307G>C |
single nucleotide variant |
not provided [RCV001546846] |
Chr8:60807910 [GRCh38]
Chr8:61720469 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser) |
single nucleotide variant |
CHARGE association [RCV000793557]|not provided [RCV000722654] |
Chr8:60850534 [GRCh38]
Chr8:61763093 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2376+57C>A |
single nucleotide variant |
not provided [RCV001546718] |
Chr8:60800582 [GRCh38]
Chr8:61713141 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1423A>G (p.Met475Val) |
single nucleotide variant |
CHARGE association [RCV002533756]|not specified [RCV000736066] |
Chr8:60742855 [GRCh38]
Chr8:61655414 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) |
single nucleotide variant |
CHARGE association [RCV000736079] |
Chr8:60741810 [GRCh38]
Chr8:61654369 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q12.2(chr8:61656947-61670975)x1 |
copy number loss |
not provided [RCV000747597] |
Chr8:61656947..61670975 [GRCh37]
Chr8:8q12.2 |
benign |
| GRCh37/hg19 8q12.2(chr8:61667280-61671071)x3 |
copy number gain |
not provided [RCV000747598] |
Chr8:61667280..61671071 [GRCh37]
Chr8:8q12.2 |
benign |
| GRCh37/hg19 8q12.2(chr8:61667427-61670975)x4 |
copy number gain |
not provided [RCV000747599] |
Chr8:61667427..61670975 [GRCh37]
Chr8:8q12.2 |
benign |
| GRCh37/hg19 8q12.2(chr8:61668289-61670975)x4 |
copy number gain |
not provided [RCV000747600] |
Chr8:61668289..61670975 [GRCh37]
Chr8:8q12.2 |
benign |
| GRCh37/hg19 8q12.2(chr8:61704817-61732518)x3 |
copy number gain |
not provided [RCV000747601] |
Chr8:61704817..61732518 [GRCh37]
Chr8:8q12.2 |
benign |
| GRCh37/hg19 8q12.2(chr8:61704817-61734962)x3 |
copy number gain |
not provided [RCV000747602] |
Chr8:61704817..61734962 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7609-4G>T |
single nucleotide variant |
CHARGE association [RCV000871755]|CHARGE association [RCV002495298] |
Chr8:60860900 [GRCh38]
Chr8:61773459 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4185+46C>T |
single nucleotide variant |
not provided [RCV001678962] |
Chr8:60837058 [GRCh38]
Chr8:61749617 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7165-12A>G |
single nucleotide variant |
not provided [RCV001584669] |
Chr8:60856433 [GRCh38]
Chr8:61768992 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8076+168_8076+169insTCTTACATCAATACATCATT |
insertion |
not provided [RCV001533823] |
Chr8:60862809..60862810 [GRCh38]
Chr8:61775368..61775369 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.807del (p.Ala270fs) |
deletion |
CHARGE association [RCV000853378] |
Chr8:60742238 [GRCh38]
Chr8:61654797 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.775del (p.His259fs) |
deletion |
not provided [RCV001812977] |
Chr8:60742206 [GRCh38]
Chr8:61654765 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7009C>T (p.Arg2337Cys) |
single nucleotide variant |
not provided [RCV001565250]|not specified [RCV001821896] |
Chr8:60856047 [GRCh38]
Chr8:61768606 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7224A>G (p.Glu2408=) |
single nucleotide variant |
CHARGE association [RCV001442508]|CHD7-related condition [RCV003955566] |
Chr8:60856504 [GRCh38]
Chr8:61769063 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7680C>T (p.Pro2560=) |
single nucleotide variant |
CHARGE association [RCV002538921] |
Chr8:60860975 [GRCh38]
Chr8:61773534 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2698-54A>G |
single nucleotide variant |
not provided [RCV001679531] |
Chr8:60821736 [GRCh38]
Chr8:61734295 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4185+90G>C |
single nucleotide variant |
not provided [RCV001693216] |
Chr8:60837102 [GRCh38]
Chr8:61749661 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6989del (p.Gly2330fs) |
deletion |
not provided [RCV000755927] |
Chr8:60856026 [GRCh38]
Chr8:61768585 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met) |
single nucleotide variant |
CHARGE association [RCV001064951]|CHARGE association [RCV002479382]|Inborn genetic diseases [RCV002365754] |
Chr8:60856183 [GRCh38]
Chr8:61768742 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7123del (p.Ser2375fs) |
deletion |
CHARGE association [RCV000760270] |
Chr8:60856161 [GRCh38]
Chr8:61768720 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) |
single nucleotide variant |
CHARGE association [RCV000824845]|not provided [RCV000760306] |
Chr8:60816460 [GRCh38]
Chr8:61729019 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) |
single nucleotide variant |
CHARGE association [RCV001329006]|not provided [RCV000760386] |
Chr8:60741943 [GRCh38]
Chr8:61654502 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) |
single nucleotide variant |
CHARGE association [RCV000816997]|CHARGE association [RCV002500990]|not provided [RCV000762515] |
Chr8:60841980 [GRCh38]
Chr8:61754539 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6454C>T (p.Gln2152Ter) |
single nucleotide variant |
not provided [RCV000760702] |
Chr8:60853179 [GRCh38]
Chr8:61765738 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7803C>A (p.Tyr2601Ter) |
single nucleotide variant |
CHARGE association [RCV001729698]|not provided [RCV000760800] |
Chr8:60861098 [GRCh38]
Chr8:61773657 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2097T>G (p.Ser699Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164337] |
Chr8:60794986 [GRCh38]
Chr8:61707545 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1123G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164764] |
Chr8:60867056 [GRCh38]
Chr8:61779615 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly) |
single nucleotide variant |
CHARGE association [RCV000988065] |
Chr8:60837677 [GRCh38]
Chr8:61750236 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6574G>T (p.Glu2192Ter) |
single nucleotide variant |
not provided [RCV001569207] |
Chr8:60853299 [GRCh38]
Chr8:61765858 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6776-248G>A |
single nucleotide variant |
not provided [RCV001571831] |
Chr8:60854115 [GRCh38]
Chr8:61766674 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2472G>A (p.Glu824=) |
single nucleotide variant |
not provided [RCV001584735] |
Chr8:60808246 [GRCh38]
Chr8:61720805 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) |
single nucleotide variant |
CHARGE association [RCV003603098]|Inborn genetic diseases [RCV002579460]|not provided [RCV001586883] |
Chr8:60845307 [GRCh38]
Chr8:61757866 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys) |
single nucleotide variant |
CHARGE association [RCV001044796] |
Chr8:60742805 [GRCh38]
Chr8:61655364 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4850+102C>T |
single nucleotide variant |
not provided [RCV001667808] |
Chr8:60842154 [GRCh38]
Chr8:61754713 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5405-299T>C |
single nucleotide variant |
not provided [RCV001578086] |
Chr8:60850194 [GRCh38]
Chr8:61762753 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3295T>C (p.Trp1099Arg) |
single nucleotide variant |
CHARGE association [RCV000790613] |
Chr8:60823933 [GRCh38]
Chr8:61736492 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6241T>C (p.Cys2081Arg) |
single nucleotide variant |
not provided [RCV001583226] |
Chr8:60852966 [GRCh38]
Chr8:61765525 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3523-12G>A |
single nucleotide variant |
CHARGE association [RCV002495937]|CHARGE association [RCV003497925]|not provided [RCV001586398] |
Chr8:60830310 [GRCh38]
Chr8:61742869 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7818A>G (p.Pro2606=) |
single nucleotide variant |
CHARGE association [RCV002539011] |
Chr8:60861113 [GRCh38]
Chr8:61773672 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.303G>A (p.Pro101=) |
single nucleotide variant |
CHARGE association [RCV000866359]|CHARGE association [RCV002507490]|Inborn genetic diseases [RCV003362991]|not provided [RCV001776068] |
Chr8:60741735 [GRCh38]
Chr8:61654294 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) |
single nucleotide variant |
CHARGE association [RCV000866367]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159636]|Inborn genetic diseases [RCV002363232] |
Chr8:60856001 [GRCh38]
Chr8:61768560 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6989G>C (p.Gly2330Ala) |
single nucleotide variant |
CHD7-related condition [RCV003930523]|not provided [RCV000880727] |
Chr8:60856027 [GRCh38]
Chr8:61768586 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.1191A>C (p.Ser397=) |
single nucleotide variant |
not provided [RCV000921892] |
Chr8:60742623 [GRCh38]
Chr8:61655182 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8214G>A (p.Thr2738=) |
single nucleotide variant |
CHARGE association [RCV001858543] |
Chr8:60865153 [GRCh38]
Chr8:61777712 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2109T>G (p.Pro703=) |
single nucleotide variant |
CHARGE association [RCV000870365]|CHARGE association [RCV002495294]|Inborn genetic diseases [RCV002416047]|not provided [RCV001558175] |
Chr8:60794998 [GRCh38]
Chr8:61707557 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser) |
single nucleotide variant |
CHARGE association [RCV000867803]|not provided [RCV001712815] |
Chr8:60800496 [GRCh38]
Chr8:61713055 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4482A>C (p.Arg1494=) |
single nucleotide variant |
not provided [RCV000973025] |
Chr8:60838204 [GRCh38]
Chr8:61750763 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.951C>T (p.Asn317=) |
single nucleotide variant |
CHARGE association [RCV001430590] |
Chr8:60742383 [GRCh38]
Chr8:61654942 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3399G>A (p.Thr1133=) |
single nucleotide variant |
CHARGE association [RCV000868653] |
Chr8:60828683 [GRCh38]
Chr8:61741242 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3989+7A>G |
single nucleotide variant |
CHARGE association [RCV000868759]|CHD7-related condition [RCV003920372] |
Chr8:60836290 [GRCh38]
Chr8:61748849 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4534-4T>G |
single nucleotide variant |
CHARGE association [RCV001412155] |
Chr8:60841640 [GRCh38]
Chr8:61754199 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5442G>A (p.Ala1814=) |
single nucleotide variant |
CHARGE association [RCV002064665]|not provided [RCV000871190] |
Chr8:60850530 [GRCh38]
Chr8:61763089 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8586T>C (p.Asp2862=) |
single nucleotide variant |
CHARGE association [RCV000868898] |
Chr8:60865525 [GRCh38]
Chr8:61778084 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.861G>A (p.Pro287=) |
single nucleotide variant |
CHARGE association [RCV000867243]|CHARGE association [RCV002501265] |
Chr8:60742293 [GRCh38]
Chr8:61654852 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7083G>A (p.Arg2361=) |
single nucleotide variant |
CHARGE association [RCV003497911] |
Chr8:60856121 [GRCh38]
Chr8:61768680 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4692C>G (p.Leu1564=) |
single nucleotide variant |
CHARGE association [RCV002541010]|CHD7-related condition [RCV003933123]|not provided [RCV000923733] |
Chr8:60841894 [GRCh38]
Chr8:61754453 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7609-7T>C |
single nucleotide variant |
CHARGE association [RCV001399208] |
Chr8:60860897 [GRCh38]
Chr8:61773456 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys) |
single nucleotide variant |
CHARGE association [RCV000983795]|Inborn genetic diseases [RCV002549605]|not provided [RCV001712831] |
Chr8:60853254 [GRCh38]
Chr8:61765813 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) |
single nucleotide variant |
CHARGE association [RCV000866277]|CHARGE association [RCV002495257]|CHD7-related condition [RCV003975407]|Inborn genetic diseases [RCV002319975]|not provided [RCV002279572]|not specified [RCV001195312] |
Chr8:60741841 [GRCh38]
Chr8:61654400 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) |
single nucleotide variant |
CHARGE association [RCV000868213] |
Chr8:60836119 [GRCh38]
Chr8:61748678 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.706T>C (p.Ser236Pro) |
single nucleotide variant |
not provided [RCV002280531] |
Chr8:60742138 [GRCh38]
Chr8:61654697 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7472G>A (p.Arg2491His) |
single nucleotide variant |
CHARGE association [RCV001036892]|CHARGE association [RCV002479238] |
Chr8:60856752 [GRCh38]
Chr8:61769311 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg) |
single nucleotide variant |
CHARGE association [RCV001061516]|CHARGE association [RCV002482057]|not provided [RCV002225788] |
Chr8:60849149 [GRCh38]
Chr8:61761708 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6627del (p.Glu2210fs) |
deletion |
not provided [RCV001810632] |
Chr8:60853352 [GRCh38]
Chr8:61765911 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6937-9T>G |
single nucleotide variant |
CHARGE association [RCV001041711] |
Chr8:60855966 [GRCh38]
Chr8:61768525 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile) |
single nucleotide variant |
CHARGE association [RCV001041751]|Inborn genetic diseases [RCV002553079] |
Chr8:60856055 [GRCh38]
Chr8:61768614 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8672A>T (p.Asn2891Ile) |
single nucleotide variant |
CHARGE association [RCV001058563] |
Chr8:60865611 [GRCh38]
Chr8:61778170 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6376G>T (p.Asp2126Tyr) |
single nucleotide variant |
CHARGE association [RCV001061892] |
Chr8:60853101 [GRCh38]
Chr8:61765660 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) |
single nucleotide variant |
CHARGE association [RCV001047696]|CHARGE association [RCV002479291]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161015]|Inborn genetic diseases [RCV002372801]|not provided [RCV003145289] |
Chr8:60856533 [GRCh38]
Chr8:61769092 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter) |
single nucleotide variant |
CHARGE association [RCV000856767] |
Chr8:60816408 [GRCh38]
Chr8:61728967 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5895-8T>G |
single nucleotide variant |
CHARGE association [RCV001047001] |
Chr8:60852490 [GRCh38]
Chr8:61765049 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7240_7241delinsTT (p.Ala2414Phe) |
indel |
CHARGE association [RCV001042516] |
Chr8:60856520..60856521 [GRCh38]
Chr8:61769079..61769080 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7522C>T (p.Pro2508Ser) |
single nucleotide variant |
CHARGE association [RCV001050181] |
Chr8:60856802 [GRCh38]
Chr8:61769361 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.630G>C (p.Met210Ile) |
single nucleotide variant |
CHARGE association [RCV001037618] |
Chr8:60742062 [GRCh38]
Chr8:61654621 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3206G>A (p.Arg1069Gln) |
single nucleotide variant |
CHARGE association [RCV001038125] |
Chr8:60823844 [GRCh38]
Chr8:61736403 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8077-2A>G |
single nucleotide variant |
CHARGE association [RCV001068912] |
Chr8:60865014 [GRCh38]
Chr8:61777573 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6407G>A (p.Gly2136Glu) |
single nucleotide variant |
CHARGE association [RCV000768181] |
Chr8:60853132 [GRCh38]
Chr8:61765691 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5815C>G (p.Arg1939Gly) |
single nucleotide variant |
CHARGE association [RCV001059853] |
Chr8:60852168 [GRCh38]
Chr8:61764727 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4030C>T (p.Leu1344Phe) |
single nucleotide variant |
CHARGE association [RCV001048675] |
Chr8:60836857 [GRCh38]
Chr8:61749416 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3464G>A (p.Arg1155His) |
single nucleotide variant |
CHARGE association [RCV001053907]|CHARGE association [RCV002481982]|Inborn genetic diseases [RCV002460127] |
Chr8:60828748 [GRCh38]
Chr8:61741307 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5791C>G (p.Gln1931Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003246648] |
Chr8:60852144 [GRCh38]
Chr8:61764703 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter) |
single nucleotide variant |
CHARGE association [RCV001037820] |
Chr8:60821821 [GRCh38]
Chr8:61734380 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4944_4945del (p.Tyr1649fs) |
microsatellite |
CHARGE association [RCV001057662] |
Chr8:60844955..60844956 [GRCh38]
Chr8:61757514..61757515 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.521C>T (p.Pro174Leu) |
single nucleotide variant |
CHARGE association [RCV001060666]|not provided [RCV001546186] |
Chr8:60741953 [GRCh38]
Chr8:61654512 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1051G>A (p.Val351Ile) |
single nucleotide variant |
CHARGE association [RCV001038372]|not provided [RCV001569858] |
Chr8:60742483 [GRCh38]
Chr8:61655042 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter) |
single nucleotide variant |
CHARGE association [RCV001040349] |
Chr8:60845309 [GRCh38]
Chr8:61757868 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer) |
deletion |
CHARGE association [RCV000807186] |
Chr8:60821792 [GRCh38]
Chr8:61734351 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8362G>C (p.Asp2788His) |
single nucleotide variant |
not specified [RCV000825312] |
Chr8:60865301 [GRCh38]
Chr8:61777860 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg) |
single nucleotide variant |
CHARGE association [RCV001204412]|not provided [RCV000782253] |
Chr8:60850621 [GRCh38]
Chr8:61763180 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.973A>C (p.Asn325His) |
single nucleotide variant |
CHARGE association [RCV003768455]|not specified [RCV000781294] |
Chr8:60742405 [GRCh38]
Chr8:61654964 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5210+286G>A |
single nucleotide variant |
not provided [RCV000826379] |
Chr8:60845695 [GRCh38]
Chr8:61758254 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp) |
single nucleotide variant |
CHARGE association [RCV000791889] |
Chr8:60836902 [GRCh38]
Chr8:61749461 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) |
single nucleotide variant |
CHARGE association [RCV000770777] |
Chr8:60852547 [GRCh38]
Chr8:61765106 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro) |
single nucleotide variant |
CHARGE association [RCV000770778] |
Chr8:60836199 [GRCh38]
Chr8:61748758 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg) |
single nucleotide variant |
CHARGE association [RCV000808832] |
Chr8:60865271 [GRCh38]
Chr8:61777830 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) |
single nucleotide variant |
CHARGE association [RCV000770775]|not provided [RCV003313143] |
Chr8:60856592 [GRCh38]
Chr8:61769151 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.5154A>C (p.Pro1718=) |
single nucleotide variant |
CHARGE association [RCV003603077] |
Chr8:60845353 [GRCh38]
Chr8:61757912 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7155G>A (p.Gln2385=) |
single nucleotide variant |
CHARGE association [RCV001488500] |
Chr8:60856193 [GRCh38]
Chr8:61768752 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1958C>T (p.Pro653Leu) |
single nucleotide variant |
CHARGE association [RCV001517448]|CHD7-related condition [RCV003955638]|Inborn genetic diseases [RCV002416014] |
Chr8:60781292 [GRCh38]
Chr8:61693851 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.1116A>C (p.Ser372=) |
single nucleotide variant |
CHARGE association [RCV000861455]|CHARGE association [RCV002501193] |
Chr8:60742548 [GRCh38]
Chr8:61655107 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3483A>G (p.Thr1161=) |
single nucleotide variant |
CHARGE association [RCV001497027]|CHARGE association [RCV002501194] |
Chr8:60828767 [GRCh38]
Chr8:61741326 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7971+7G>A |
single nucleotide variant |
CHARGE association [RCV001393051] |
Chr8:60862343 [GRCh38]
Chr8:61774902 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8640G>T (p.Pro2880=) |
single nucleotide variant |
CHARGE association [RCV001490858] |
Chr8:60865579 [GRCh38]
Chr8:61778138 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter) |
single nucleotide variant |
CHARGE association [RCV000767865] |
Chr8:60862591 [GRCh38]
Chr8:61775150 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5211-3del |
deletion |
CHARGE association [RCV001408169] |
Chr8:60848511 [GRCh38]
Chr8:61761070 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8961G>A (p.Gly2987=) |
single nucleotide variant |
not provided [RCV000964793] |
Chr8:60865900 [GRCh38]
Chr8:61778459 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.522G>A (p.Pro174=) |
single nucleotide variant |
CHARGE association [RCV001493367]|Inborn genetic diseases [RCV002345946] |
Chr8:60741954 [GRCh38]
Chr8:61654513 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1659G>C (p.Val553=) |
single nucleotide variant |
CHARGE association [RCV000864628] |
Chr8:60743091 [GRCh38]
Chr8:61655650 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1666-4T>A |
single nucleotide variant |
not provided [RCV000953581] |
Chr8:60780996 [GRCh38]
Chr8:61693555 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8874C>T (p.Ala2958=) |
single nucleotide variant |
CHARGE association [RCV001426420] |
Chr8:60865813 [GRCh38]
Chr8:61778372 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) |
single nucleotide variant |
CHARGE association [RCV002488072]|CHARGE association [RCV002549627]|Familial atrioventricular septal defect [RCV000984479]|Inborn genetic diseases [RCV002354890] |
Chr8:60852691 [GRCh38]
Chr8:61765250 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5058A>G (p.Ser1686=) |
single nucleotide variant |
CHARGE association [RCV001472852] |
Chr8:60845257 [GRCh38]
Chr8:61757816 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser) |
single nucleotide variant |
CHARGE association [RCV002062244]|CHARGE association [RCV002501211]|Inborn genetic diseases [RCV002434063]|not provided [RCV000862347] |
Chr8:60865328 [GRCh38]
Chr8:61777887 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5130C>T (p.Ala1710=) |
single nucleotide variant |
CHARGE association [RCV000874692]|Inborn genetic diseases [RCV002336843] |
Chr8:60845329 [GRCh38]
Chr8:61757888 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3681A>G (p.Thr1227=) |
single nucleotide variant |
CHARGE association [RCV002064700]|Inborn genetic diseases [RCV002346009]|not provided [RCV003432831] |
Chr8:60830480 [GRCh38]
Chr8:61743039 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1203A>G (p.Ala401=) |
single nucleotide variant |
CHARGE association [RCV000862424]|CHARGE association [RCV002507472]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159332]|not provided [RCV001619846] |
Chr8:60742635 [GRCh38]
Chr8:61655194 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.510G>A (p.Pro170=) |
single nucleotide variant |
CHARGE association [RCV000874796]|CHARGE association [RCV002495308]|Inborn genetic diseases [RCV002336844]|not provided [RCV001548457] |
Chr8:60741942 [GRCh38]
Chr8:61654501 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2829G>A (p.Glu943=) |
single nucleotide variant |
CHARGE association [RCV000865110]|CHD7-related condition [RCV003938266]|Inborn genetic diseases [RCV002434085]|not provided [RCV001712806]|not specified [RCV001195445] |
Chr8:60821921 [GRCh38]
Chr8:61734480 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.8361C>T (p.Gly2787=) |
single nucleotide variant |
CHARGE association [RCV000862535]|CHD7-related condition [RCV003918339]|Inborn genetic diseases [RCV003169097]|not provided [RCV001655617] |
Chr8:60865300 [GRCh38]
Chr8:61777859 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.729C>T (p.Pro243=) |
single nucleotide variant |
CHARGE association [RCV000868521]|CHARGE association [RCV002501279]|Inborn genetic diseases [RCV002381953] |
Chr8:60742161 [GRCh38]
Chr8:61654720 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8733A>G (p.Pro2911=) |
single nucleotide variant |
not provided [RCV000980097] |
Chr8:60865672 [GRCh38]
Chr8:61778231 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5191C>T (p.Leu1731=) |
single nucleotide variant |
CHARGE association [RCV000867927]|CHD7-related condition [RCV003948137] |
Chr8:60845390 [GRCh38]
Chr8:61757949 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6237G>A (p.Lys2079=) |
single nucleotide variant |
not provided [RCV000919523] |
Chr8:60852962 [GRCh38]
Chr8:61765521 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2745C>T (p.Asp915=) |
single nucleotide variant |
not provided [RCV000910053] |
Chr8:60821837 [GRCh38]
Chr8:61734396 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) |
single nucleotide variant |
CHARGE association [RCV000790521] |
Chr8:60845330 [GRCh38]
Chr8:61757889 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.425G>C (p.Ser142Thr) |
single nucleotide variant |
CHARGE association [RCV003603121]|not provided [RCV002284940] |
Chr8:60741857 [GRCh38]
Chr8:61654416 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.-175G>A |
single nucleotide variant |
not provided [RCV003314246] |
Chr8:60679082 [GRCh38]
Chr8:61591641 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3553A>G (p.Met1185Val) |
single nucleotide variant |
Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA) [RCV003238155] |
Chr8:60830352 [GRCh38]
Chr8:61742911 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8425G>A (p.Val2809Met) |
single nucleotide variant |
CHD7-related condition [RCV003898247]|Intellectual disability [RCV001251711] |
Chr8:60865364 [GRCh38]
Chr8:61777923 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4889A>G (p.Tyr1630Cys) |
single nucleotide variant |
CHD7-related condition [RCV003395748]|not provided [RCV003313496] |
Chr8:60844902 [GRCh38]
Chr8:61757461 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| t(X;8)(p22.13;q12.1) |
translocation |
Neoplasm of the pancreas [RCV002245641] |
Chr8:61661279..61661280 [GRCh37]
ChrX:18230125..18230126 [GRCh37]
Chr8:8q12.2
ChrX:Xp22.13 |
uncertain significance |
| NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter) |
single nucleotide variant |
CHARGE association [RCV000809467] |
Chr8:60742732 [GRCh38]
Chr8:61655291 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs) |
indel |
CHARGE association [RCV000856670] |
Chr8:60850592..60850596 [GRCh38]
Chr8:61763151..61763155 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.635del (p.Gln212fs) |
deletion |
CHARGE association [RCV000856796] |
Chr8:60742067 [GRCh38]
Chr8:61654626 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser) |
single nucleotide variant |
CHARGE association [RCV000796762] |
Chr8:60865725 [GRCh38]
Chr8:61778284 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg) |
single nucleotide variant |
CHARGE association [RCV000797668]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164340]|not provided [RCV003144605] |
Chr8:60800524 [GRCh38]
Chr8:61713083 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4652del (p.Leu1551fs) |
deletion |
CHARGE association [RCV000815860] |
Chr8:60841854 [GRCh38]
Chr8:61754413 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) |
single nucleotide variant |
CHARGE association [RCV000806474]|CHARGE association [RCV002507397]|CHD7-related condition [RCV003411780] |
Chr8:60856135 [GRCh38]
Chr8:61768694 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn) |
single nucleotide variant |
CHARGE association [RCV000793758] |
Chr8:60862231 [GRCh38]
Chr8:61774790 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His) |
single nucleotide variant |
CHARGE association [RCV000798299] |
Chr8:60842048 [GRCh38]
Chr8:61754607 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7831-3C>T |
single nucleotide variant |
CHARGE association [RCV000869514] |
Chr8:60862193 [GRCh38]
Chr8:61774752 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1193C>A (p.Pro398His) |
single nucleotide variant |
CHARGE association [RCV000816113] |
Chr8:60742625 [GRCh38]
Chr8:61655184 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) |
single nucleotide variant |
CHARGE association [RCV002501151]|CHARGE association [RCV002536039]|Inborn genetic diseases [RCV002372366]|not specified [RCV000825137] |
Chr8:60856513 [GRCh38]
Chr8:61769072 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6937-2A>G |
single nucleotide variant |
CHARGE association [RCV000807400]|not provided [RCV003236847] |
Chr8:60855973 [GRCh38]
Chr8:61768532 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) |
single nucleotide variant |
CHARGE association [RCV001056258]|CHARGE association [RCV002495188]|not specified [RCV000825310] |
Chr8:60853419 [GRCh38]
Chr8:61765978 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg) |
single nucleotide variant |
CHARGE association [RCV000814109] |
Chr8:60865379 [GRCh38]
Chr8:61777938 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1666-147C>A |
single nucleotide variant |
not provided [RCV000836276] |
Chr8:60780853 [GRCh38]
Chr8:61693412 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1554G>C (p.Gln518His) |
single nucleotide variant |
CHARGE association [RCV000819673] |
Chr8:60742986 [GRCh38]
Chr8:61655545 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser) |
single nucleotide variant |
CHARGE association [RCV000807613]|CHD7-related condition [RCV003947997]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159637]|Inborn genetic diseases [RCV002370155]|not provided [RCV001683662] |
Chr8:60856003 [GRCh38]
Chr8:61768562 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2613+213T>G |
single nucleotide variant |
not provided [RCV000832595] |
Chr8:60816714 [GRCh38]
Chr8:61729273 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4186-225A>G |
single nucleotide variant |
not provided [RCV000832596] |
Chr8:60837443 [GRCh38]
Chr8:61750002 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) |
single nucleotide variant |
CHARGE association [RCV000818099]|CHARGE association [RCV002495163] |
Chr8:60852701 [GRCh38]
Chr8:61765260 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg) |
single nucleotide variant |
CHARGE association [RCV000810658] |
Chr8:60854380 [GRCh38]
Chr8:61766939 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3047A>G (p.His1016Arg) |
single nucleotide variant |
CHARGE association [RCV000810769]|CHARGE association [RCV002487761]|CHD7-related condition [RCV003396416] |
Chr8:60822592 [GRCh38]
Chr8:61735151 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2195dup (p.Pro733fs) |
duplication |
CHARGE association [RCV000814478] |
Chr8:60795079..60795080 [GRCh38]
Chr8:61707638..61707639 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter) |
single nucleotide variant |
CHARGE association [RCV000807220] |
Chr8:60861076 [GRCh38]
Chr8:61773635 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu) |
single nucleotide variant |
CHARGE association [RCV000807373]|not provided [RCV002279543] |
Chr8:60856450 [GRCh38]
Chr8:61769009 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys) |
single nucleotide variant |
CHARGE association [RCV001856268]|CHARGE association [RCV002487865]|Inborn genetic diseases [RCV002536045]|not specified [RCV000825307] |
Chr8:60822568 [GRCh38]
Chr8:61735127 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) |
single nucleotide variant |
CHARGE association [RCV003497882]|CHD7-related condition [RCV003892757]|not specified [RCV000825309] |
Chr8:60850602 [GRCh38]
Chr8:61763161 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.760C>G (p.Gln254Glu) |
single nucleotide variant |
CHARGE association [RCV002538211]|not specified [RCV000825311] |
Chr8:60742192 [GRCh38]
Chr8:61654751 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val) |
single nucleotide variant |
CHARGE association [RCV000791785] |
Chr8:60836145 [GRCh38]
Chr8:61748704 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6936+308G>C |
single nucleotide variant |
not provided [RCV000826380] |
Chr8:60854831 [GRCh38]
Chr8:61767390 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2295del (p.Phe765fs) |
deletion |
CHARGE association [RCV000811014] |
Chr8:60800444 [GRCh38]
Chr8:61713003 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.503A>G (p.Gln168Arg) |
single nucleotide variant |
CHARGE association [RCV000801800] |
Chr8:60741935 [GRCh38]
Chr8:61654494 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter) |
single nucleotide variant |
CHARGE association [RCV000988068] |
Chr8:60856526 [GRCh38]
Chr8:61769085 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) |
single nucleotide variant |
CHARGE association [RCV000811442]|CHARGE association [RCV002478882]|CHD7-related condition [RCV003413633] |
Chr8:60856081 [GRCh38]
Chr8:61768640 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1563G>A (p.Pro521=) |
single nucleotide variant |
CHARGE association [RCV001397037] |
Chr8:60742995 [GRCh38]
Chr8:61655554 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser) |
single nucleotide variant |
CHARGE association [RCV000792102]|Inborn genetic diseases [RCV003166088] |
Chr8:60865352 [GRCh38]
Chr8:61777911 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8791G>A (p.Val2931Met) |
single nucleotide variant |
CHARGE association [RCV001477239]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159744] |
Chr8:60865730 [GRCh38]
Chr8:61778289 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3405C>T (p.Thr1135=) |
single nucleotide variant |
CHARGE association [RCV001473812] |
Chr8:60828689 [GRCh38]
Chr8:61741248 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8077-1G>C |
single nucleotide variant |
CHARGE association [RCV000813238] |
Chr8:60865015 [GRCh38]
Chr8:61777574 [GRCh37]
Chr8:8q12.2 |
pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs) |
deletion |
CHARGE association [RCV000799114] |
Chr8:60837777..60837778 [GRCh38]
Chr8:61750336..61750337 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs) |
microsatellite |
CHARGE association [RCV000991293] |
Chr8:60856460..60856461 [GRCh38]
Chr8:61769019..61769020 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp) |
single nucleotide variant |
CHARGE association [RCV000822759] |
Chr8:60856817 [GRCh38]
Chr8:61769376 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter) |
single nucleotide variant |
CHARGE association [RCV000824809] |
Chr8:60856502 [GRCh38]
Chr8:61769061 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1622A>G (p.His541Arg) |
single nucleotide variant |
CHARGE association [RCV000817239]|CHD7-related condition [RCV003892750]|Inborn genetic diseases [RCV003166366] |
Chr8:60743054 [GRCh38]
Chr8:61655613 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8412G>A (p.Ala2804=) |
single nucleotide variant |
CHARGE association [RCV002067406]|Inborn genetic diseases [RCV002442770]|not provided [RCV001546965]|not specified [RCV000825134] |
Chr8:60865351 [GRCh38]
Chr8:61777910 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.176C>G (p.Thr59Ser) |
single nucleotide variant |
CHARGE association [RCV001856263]|not specified [RCV000825135] |
Chr8:60741608 [GRCh38]
Chr8:61654167 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7971+6C>T |
single nucleotide variant |
CHARGE association [RCV000820655]|not provided [RCV001644834] |
Chr8:60862342 [GRCh38]
Chr8:61774901 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro) |
single nucleotide variant |
CHARGE association [RCV000790844] |
Chr8:60848547 [GRCh38]
Chr8:61761106 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) |
single nucleotide variant |
CHARGE association [RCV000817765]|not specified [RCV001001128] |
Chr8:60800406 [GRCh38]
Chr8:61712965 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser) |
single nucleotide variant |
CHARGE association [RCV000814052] |
Chr8:60742675 [GRCh38]
Chr8:61655234 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3779-217G>A |
single nucleotide variant |
not provided [RCV000836277] |
Chr8:60835856 [GRCh38]
Chr8:61748415 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5665+198A>G |
single nucleotide variant |
not provided [RCV000836278] |
Chr8:60851517 [GRCh38]
Chr8:61764076 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7609-178C>T |
single nucleotide variant |
not provided [RCV000836280] |
Chr8:60860726 [GRCh38]
Chr8:61773285 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser) |
single nucleotide variant |
CHARGE association [RCV000798167] |
Chr8:60865179 [GRCh38]
Chr8:61777738 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg) |
single nucleotide variant |
CHARGE association [RCV000792649] |
Chr8:60853323 [GRCh38]
Chr8:61765882 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) |
single nucleotide variant |
CHARGE association [RCV000809368]|CHARGE association [RCV002487747]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161017]|Inborn genetic diseases [RCV002381797] |
Chr8:60856694 [GRCh38]
Chr8:61769253 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu) |
single nucleotide variant |
CHARGE association [RCV000802758] |
Chr8:60865103 [GRCh38]
Chr8:61777662 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1267del (p.Glu423fs) |
deletion |
CHARGE association [RCV001044320] |
Chr8:60742698 [GRCh38]
Chr8:61655257 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.*1143A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164765]|not provided [RCV002512141] |
Chr8:60867076 [GRCh38]
Chr8:61779635 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer) |
deletion |
CHARGE association [RCV000810441] |
Chr8:60836826 [GRCh38]
Chr8:61749385 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu) |
single nucleotide variant |
CHARGE association [RCV000796211]|not provided [RCV002281133] |
Chr8:60781255 [GRCh38]
Chr8:61693814 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs) |
duplication |
CHARGE association [RCV000796397] |
Chr8:60856635..60856636 [GRCh38]
Chr8:61769194..61769195 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5051-1G>A |
single nucleotide variant |
CHARGE association [RCV000988066] |
Chr8:60845249 [GRCh38]
Chr8:61757808 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5308G>A (p.Asp1770Asn) |
single nucleotide variant |
CHARGE association [RCV001043720] |
Chr8:60849058 [GRCh38]
Chr8:61761617 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr) |
single nucleotide variant |
CHARGE association [RCV000808593] |
Chr8:60852961 [GRCh38]
Chr8:61765520 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala) |
single nucleotide variant |
CHARGE association [RCV000808607] |
Chr8:60862209 [GRCh38]
Chr8:61774768 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8049del (p.Asp2684fs) |
deletion |
CHARGE association [RCV000850359] |
Chr8:60862625 [GRCh38]
Chr8:61775184 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) |
single nucleotide variant |
CHARGE association [RCV000809928] |
Chr8:60781136 [GRCh38]
Chr8:61693695 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5666-189G>T |
single nucleotide variant |
not provided [RCV000836279] |
Chr8:60851830 [GRCh38]
Chr8:61764389 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2376+147C>A |
single nucleotide variant |
not provided [RCV000836309] |
Chr8:60800672 [GRCh38]
Chr8:61713231 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2836-1G>A |
single nucleotide variant |
CHARGE association [RCV000824233] |
Chr8:60822023 [GRCh38]
Chr8:61734582 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5404+9C>T |
single nucleotide variant |
CHARGE association [RCV001428621] |
Chr8:60849163 [GRCh38]
Chr8:61761722 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile) |
single nucleotide variant |
CHARGE association [RCV000806681] |
Chr8:60856577 [GRCh38]
Chr8:61769136 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6195C>T (p.Arg2065=) |
single nucleotide variant |
CHARGE association [RCV000795912] |
Chr8:60852920 [GRCh38]
Chr8:61765479 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe) |
single nucleotide variant |
CHARGE association [RCV000812520]|Inborn genetic diseases [RCV002538121]|not provided [RCV001585745] |
Chr8:60742607 [GRCh38]
Chr8:61655166 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.805G>A (p.Val269Ile) |
single nucleotide variant |
CHARGE association [RCV000796159]|Inborn genetic diseases [RCV002422710] |
Chr8:60742237 [GRCh38]
Chr8:61654796 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.29_30del (p.Phe10fs) |
deletion |
CHARGE association [RCV000798958] |
Chr8:60741458..60741459 [GRCh38]
Chr8:61654017..61654018 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.702C>G (p.His234Gln) |
single nucleotide variant |
CHARGE association [RCV000821956] |
Chr8:60742134 [GRCh38]
Chr8:61654693 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1728G>A (p.Pro576=) |
single nucleotide variant |
CHARGE association [RCV002536247] |
Chr8:60781062 [GRCh38]
Chr8:61693621 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8298G>A (p.Ser2766=) |
single nucleotide variant |
CHARGE association [RCV000864594] |
Chr8:60865237 [GRCh38]
Chr8:61777796 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2400A>C (p.Pro800=) |
single nucleotide variant |
CHARGE association [RCV001504596] |
Chr8:60801551 [GRCh38]
Chr8:61714110 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.889C>T (p.Gln297Ter) |
single nucleotide variant |
CHARGE association [RCV000818946] |
Chr8:60742321 [GRCh38]
Chr8:61654880 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7461A>G (p.Ala2487=) |
single nucleotide variant |
not provided [RCV000895385] |
Chr8:60856741 [GRCh38]
Chr8:61769300 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.577A>G (p.Met193Val) |
single nucleotide variant |
CHARGE association [RCV000819615]|not provided [RCV001556079] |
Chr8:60742009 [GRCh38]
Chr8:61654568 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) |
deletion |
CHARGE association [RCV000803257] |
Chr8:60830374..60830380 [GRCh38]
Chr8:61742933..61742939 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val) |
single nucleotide variant |
CHARGE association [RCV000792246]|CHARGE association [RCV002501038] |
Chr8:60856158 [GRCh38]
Chr8:61768717 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) |
single nucleotide variant |
CHARGE association [RCV000794792]|CHARGE association [RCV002501046] |
Chr8:60853398 [GRCh38]
Chr8:61765957 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6401del (p.Asn2134fs) |
deletion |
CHARGE association [RCV000816660] |
Chr8:60853123 [GRCh38]
Chr8:61765682 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3379-9T>A |
single nucleotide variant |
CHARGE association [RCV000811452] |
Chr8:60828654 [GRCh38]
Chr8:61741213 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter) |
single nucleotide variant |
CHARGE association [RCV000811595] |
Chr8:60861119 [GRCh38]
Chr8:61773678 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2710dup (p.Tyr904fs) |
duplication |
CHARGE association [RCV000811622] |
Chr8:60821801..60821802 [GRCh38]
Chr8:61734360..61734361 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.509C>T (p.Pro170Leu) |
single nucleotide variant |
CHARGE association [RCV000800916]|not provided [RCV003457808] |
Chr8:60741941 [GRCh38]
Chr8:61654500 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8856C>A (p.Thr2952=) |
single nucleotide variant |
CHARGE association [RCV001431073] |
Chr8:60865795 [GRCh38]
Chr8:61778354 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2175A>G (p.Ser725=) |
single nucleotide variant |
CHARGE association [RCV000874576] |
Chr8:60795064 [GRCh38]
Chr8:61707623 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5902AGA[1] (p.Arg1969del) |
microsatellite |
not provided [RCV003239059] |
Chr8:60852504..60852506 [GRCh38]
Chr8:61765063..61765065 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.405G>A (p.Gly135=) |
single nucleotide variant |
CHARGE association [RCV001445690] |
Chr8:60741837 [GRCh38]
Chr8:61654396 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs) |
deletion |
CHARGE association [RCV000793194] |
Chr8:60865556..60865572 [GRCh38]
Chr8:61778115..61778131 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4185+1G>A |
single nucleotide variant |
CHARGE association [RCV000850390] |
Chr8:60837013 [GRCh38]
Chr8:61749572 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1496_1497delinsGC (p.Gln499Arg) |
indel |
CHARGE association [RCV001066266] |
Chr8:60742928..60742929 [GRCh38]
Chr8:61655487..61655488 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 |
copy number gain |
not provided [RCV000846266] |
Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3 |
pathogenic |
| NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) |
microsatellite |
CHARGE association [RCV000850395] |
Chr8:60822107..60822110 [GRCh38]
Chr8:61734666..61734669 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) |
single nucleotide variant |
CHARGE association [RCV000851195]|CHARGE association [RCV003396489]|not provided [RCV001528422] |
Chr8:60823939 [GRCh38]
Chr8:61736498 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.2740G>T (p.Glu914Ter) |
single nucleotide variant |
not provided [RCV000991794] |
Chr8:60821832 [GRCh38]
Chr8:61734391 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5436C>A (p.Asp1812Glu) |
single nucleotide variant |
not provided [RCV000999041] |
Chr8:60850524 [GRCh38]
Chr8:61763083 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs) |
deletion |
CHARGE association [RCV000850364] |
Chr8:60856624..60856625 [GRCh38]
Chr8:61769183..61769184 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.208G>C (p.Asp70His) |
single nucleotide variant |
CHARGE association [RCV002557384]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162204] |
Chr8:60741640 [GRCh38]
Chr8:61654199 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1666-15A>G |
single nucleotide variant |
CHARGE association [RCV002067978]|CHARGE association [RCV002483914]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162306]|not provided [RCV001547269] |
Chr8:60780985 [GRCh38]
Chr8:61693544 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.4533+1G>A |
single nucleotide variant |
CHARGE association [RCV001007909] |
Chr8:60838256 [GRCh38]
Chr8:61750815 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7596G>A (p.Thr2532=) |
single nucleotide variant |
CHARGE association [RCV001459036]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162606] |
Chr8:60856876 [GRCh38]
Chr8:61769435 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.89C>T (p.Pro30Leu) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162202]|not provided [RCV001664713] |
Chr8:60741521 [GRCh38]
Chr8:61654080 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met) |
single nucleotide variant |
CHARGE association [RCV001067240]|CHARGE association [RCV002482111] |
Chr8:60852917 [GRCh38]
Chr8:61765476 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*542C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162707] |
Chr8:60866475 [GRCh38]
Chr8:61779034 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3357_3360del (p.Glu1119fs) |
deletion |
not provided [RCV001009244] |
Chr8:60823992..60823995 [GRCh38]
Chr8:61736551..61736554 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe) |
single nucleotide variant |
not specified [RCV001000714] |
Chr8:60841856 [GRCh38]
Chr8:61754415 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.2053_2054insGCAAAA (p.Ala685delinsGlyLysThr) |
insertion |
not specified [RCV001001129] |
Chr8:60781387..60781388 [GRCh38]
Chr8:61693946..61693947 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp) |
single nucleotide variant |
CHARGE association [RCV000988063] |
Chr8:60821909 [GRCh38]
Chr8:61734468 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5979C>G (p.Asp1993Glu) |
single nucleotide variant |
CHARGE association [RCV001202710] |
Chr8:60852582 [GRCh38]
Chr8:61765141 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) |
single nucleotide variant |
CHARGE association [RCV000984903] |
Chr8:60865682 [GRCh38]
Chr8:61778241 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8020G>A (p.Glu2674Lys) |
single nucleotide variant |
CHARGE association [RCV001230700] |
Chr8:60862596 [GRCh38]
Chr8:61775155 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del) |
microsatellite |
CHARGE association [RCV001246246]|not provided [RCV003106161] |
Chr8:60800457..60800459 [GRCh38]
Chr8:61713016..61713018 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3778G>A (p.Gly1260Ser) |
single nucleotide variant |
not provided [RCV000991795] |
Chr8:60830577 [GRCh38]
Chr8:61743136 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys) |
single nucleotide variant |
CHARGE association [RCV001043030]|not provided [RCV002509596] |
Chr8:60741647 [GRCh38]
Chr8:61654206 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2021del (p.Pro674fs) |
deletion |
Congenital heart disease (variable) [RCV001194046] |
Chr8:60781352 [GRCh38]
Chr8:61693911 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6349C>T (p.Leu2117Phe) |
single nucleotide variant |
CHARGE association [RCV001201755] |
Chr8:60853074 [GRCh38]
Chr8:61765633 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser) |
single nucleotide variant |
CHARGE association [RCV001202022]|not provided [RCV001587221] |
Chr8:60865362 [GRCh38]
Chr8:61777921 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg) |
single nucleotide variant |
CHARGE association [RCV001216876]|CHARGE association [RCV002504264] |
Chr8:60821791 [GRCh38]
Chr8:61734350 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1108A>G (p.Ser370Gly) |
single nucleotide variant |
CHARGE association [RCV001241995] |
Chr8:60742540 [GRCh38]
Chr8:61655099 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2238+1G>A |
single nucleotide variant |
CHARGE association [RCV001227244]|not provided [RCV001724269] |
Chr8:60795128 [GRCh38]
Chr8:61707687 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs) |
microsatellite |
CHARGE association [RCV001227252] |
Chr8:60856563..60856564 [GRCh38]
Chr8:61769122..61769123 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del) |
deletion |
CHARGE association [RCV001214202] |
Chr8:60822635..60822655 [GRCh38]
Chr8:61735194..61735214 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp) |
single nucleotide variant |
CHARGE association [RCV001238919]|Inborn genetic diseases [RCV002436940]|not provided [RCV001586079] |
Chr8:60821850 [GRCh38]
Chr8:61734409 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr) |
single nucleotide variant |
CHARGE association [RCV001222309] |
Chr8:60842006 [GRCh38]
Chr8:61754565 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6962A>G (p.Asp2321Gly) |
single nucleotide variant |
CHARGE association [RCV001220929] |
Chr8:60856000 [GRCh38]
Chr8:61768559 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.980G>A (p.Gly327Glu) |
single nucleotide variant |
CHARGE association [RCV001208866] |
Chr8:60742412 [GRCh38]
Chr8:61654971 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys) |
single nucleotide variant |
CHARGE association [RCV001237355] |
Chr8:60844907 [GRCh38]
Chr8:61757466 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys) |
single nucleotide variant |
CHARGE association [RCV001241286]|CHD7-related condition [RCV003963144]|Inborn genetic diseases [RCV002339667]|not provided [RCV001773544] |
Chr8:60844898 [GRCh38]
Chr8:61757457 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.83G>A (p.Gly28Asp) |
single nucleotide variant |
CHARGE association [RCV001214490] |
Chr8:60741515 [GRCh38]
Chr8:61654074 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1604A>T (p.Gln535Leu) |
single nucleotide variant |
CHARGE association [RCV001237985] |
Chr8:60743036 [GRCh38]
Chr8:61655595 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) |
single nucleotide variant |
CHARGE association [RCV001203728]|not provided [RCV001262014] |
Chr8:60861098 [GRCh38]
Chr8:61773657 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser) |
single nucleotide variant |
CHARGE association [RCV001225476] |
Chr8:60821790 [GRCh38]
Chr8:61734349 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5211-2_5227del |
deletion |
CHARGE association [RCV001225497] |
Chr8:60848510..60848528 [GRCh38]
Chr8:61761069..61761087 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr) |
indel |
CHARGE association [RCV001225953]|not provided [RCV003129742] |
Chr8:60824010..60824011 [GRCh38]
Chr8:61736569..61736570 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.33C>T (p.Gly11=) |
single nucleotide variant |
CHARGE association [RCV001211426]|not provided [RCV001557537] |
Chr8:60741465 [GRCh38]
Chr8:61654024 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4424del (p.Glu1475fs) |
deletion |
CHARGE association [RCV001210647] |
Chr8:60838146 [GRCh38]
Chr8:61750705 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met) |
single nucleotide variant |
CHARGE association [RCV001197565] |
Chr8:60853276 [GRCh38]
Chr8:61765835 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1639A>C (p.Thr547Pro) |
single nucleotide variant |
CHARGE association [RCV001212027] |
Chr8:60743071 [GRCh38]
Chr8:61655630 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr) |
single nucleotide variant |
CHARGE association [RCV001197788] |
Chr8:60741731 [GRCh38]
Chr8:61654290 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser) |
single nucleotide variant |
CHARGE association [RCV001195867] |
Chr8:60865121 [GRCh38]
Chr8:61777680 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) |
single nucleotide variant |
CHARGE association [RCV001195745]|CHARGE association [RCV002484068] |
Chr8:60854404 [GRCh38]
Chr8:61766963 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln) |
single nucleotide variant |
CHARGE association [RCV001233852]|Inborn genetic diseases [RCV002451559]|not provided [RCV001586075] |
Chr8:60820083 [GRCh38]
Chr8:61732642 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6561T>A (p.Cys2187Ter) |
single nucleotide variant |
CHARGE association [RCV000853388] |
Chr8:60853286 [GRCh38]
Chr8:61765845 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1769T>C (p.Ile590Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003248691] |
Chr8:60781103 [GRCh38]
Chr8:61693662 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4247C>T (p.Thr1416Ile) |
single nucleotide variant |
not provided [RCV003318169] |
Chr8:60837729 [GRCh38]
Chr8:61750288 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6166T>C (p.Tyr2056His) |
single nucleotide variant |
not provided [RCV003318198] |
Chr8:60852891 [GRCh38]
Chr8:61765450 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5914dup (p.Ala1972fs) |
duplication |
CHARGE association [RCV000988067] |
Chr8:60852515..60852516 [GRCh38]
Chr8:61765074..61765075 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) |
single nucleotide variant |
CHARGE association [RCV001475472]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162411]|not provided [RCV000991796] |
Chr8:60837757 [GRCh38]
Chr8:61750316 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln) |
single nucleotide variant |
not provided [RCV000991797] |
Chr8:60852169 [GRCh38]
Chr8:61764728 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5333A>G (p.His1778Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164459] |
Chr8:60849083 [GRCh38]
Chr8:61761642 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6685T>C (p.Ser2229Pro) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164556]|Inborn genetic diseases [RCV003363127] |
Chr8:60853410 [GRCh38]
Chr8:61765969 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg) |
single nucleotide variant |
CHARGE association [RCV001228428] |
Chr8:60865583 [GRCh38]
Chr8:61778142 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.667G>T (p.Gly223Ter) |
single nucleotide variant |
CHARGE association [RCV001247158] |
Chr8:60742099 [GRCh38]
Chr8:61654658 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.*1374C>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164766] |
Chr8:60867307 [GRCh38]
Chr8:61779866 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) |
single nucleotide variant |
CHARGE association [RCV001235290]|CHD7-related condition [RCV003908444]|not provided [RCV002225808] |
Chr8:60742837 [GRCh38]
Chr8:61655396 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2426G>A (p.Arg809His) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159418] |
Chr8:60801577 [GRCh38]
Chr8:61714136 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1628C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159849] |
Chr8:60867561 [GRCh38]
Chr8:61780120 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1679G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159850] |
Chr8:60867612 [GRCh38]
Chr8:61780171 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.395_400delinsCAA (p.Glu132_His134delinsAlaAsn) |
indel |
CHARGE association [RCV001246530] |
Chr8:60741827..60741832 [GRCh38]
Chr8:61654386..61654391 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln) |
single nucleotide variant |
CHARGE association [RCV001196431] |
Chr8:60862323 [GRCh38]
Chr8:61774882 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5915C>G (p.Ala1972Gly) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160906] |
Chr8:60852518 [GRCh38]
Chr8:61765077 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp) |
single nucleotide variant |
CHARGE association [RCV001196487] |
Chr8:60830458 [GRCh38]
Chr8:61743017 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*108A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161147] |
Chr8:60866041 [GRCh38]
Chr8:61778600 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*166T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161148] |
Chr8:60866099 [GRCh38]
Chr8:61778658 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*489C>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161150] |
Chr8:60866422 [GRCh38]
Chr8:61778981 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2846del (p.Pro949fs) |
deletion |
not provided [RCV001008946] |
Chr8:60822033 [GRCh38]
Chr8:61734592 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2349del (p.Ser784fs) |
deletion |
not provided [RCV001009140] |
Chr8:60800494 [GRCh38]
Chr8:61713053 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.290G>A (p.Gly97Glu) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164232] |
Chr8:60741722 [GRCh38]
Chr8:61654281 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.308C>T (p.Ser103Leu) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164233] |
Chr8:60741740 [GRCh38]
Chr8:61654299 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8324T>C (p.Phe2775Ser) |
single nucleotide variant |
not provided [RCV003231748] |
Chr8:60865263 [GRCh38]
Chr8:61777822 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3642G>T (p.Gln1214His) |
single nucleotide variant |
CHARGE association [RCV003233017] |
Chr8:60830441 [GRCh38]
Chr8:61743000 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del |
deletion |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV003230792] |
Chr8:61773462..61773685 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6749A>G (p.Lys2250Arg) |
single nucleotide variant |
not provided [RCV003237045] |
Chr8:60853474 [GRCh38]
Chr8:61766033 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2241G>C (p.Lys747Asn) |
single nucleotide variant |
Autism spectrum disorder [RCV003127410] |
Chr8:60800390 [GRCh38]
Chr8:61712949 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5211-251C>A |
single nucleotide variant |
not provided [RCV001581560] |
Chr8:60848264 [GRCh38]
Chr8:61760823 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2442+93A>G |
single nucleotide variant |
not provided [RCV001643254] |
Chr8:60801686 [GRCh38]
Chr8:61714245 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6775+128T>G |
single nucleotide variant |
not provided [RCV001577113] |
Chr8:60853628 [GRCh38]
Chr8:61766187 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6937-249G>A |
single nucleotide variant |
not provided [RCV001569912] |
Chr8:60855726 [GRCh38]
Chr8:61768285 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4302G>A (p.Leu1434=) |
single nucleotide variant |
CHARGE association [RCV002570674]|CHD7-related condition [RCV003900788]|not provided [RCV001547153] |
Chr8:60837784 [GRCh38]
Chr8:61750343 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2239-311C>A |
single nucleotide variant |
not provided [RCV001547395] |
Chr8:60800077 [GRCh38]
Chr8:61712636 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3202-42T>C |
single nucleotide variant |
not provided [RCV001551647] |
Chr8:60823798 [GRCh38]
Chr8:61736357 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7608+68G>A |
single nucleotide variant |
not provided [RCV001713169] |
Chr8:60856956 [GRCh38]
Chr8:61769515 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5196G>A (p.Lys1732=) |
single nucleotide variant |
CHARGE association [RCV003771750]|not provided [RCV001575810] |
Chr8:60845395 [GRCh38]
Chr8:61757954 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5210+57dup |
duplication |
not provided [RCV001685913] |
Chr8:60845460..60845461 [GRCh38]
Chr8:61758019..61758020 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6598G>C (p.Gly2200Arg) |
single nucleotide variant |
CHARGE association [RCV001542311] |
Chr8:60853323 [GRCh38]
Chr8:61765882 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5597A>G (p.Asp1866Gly) |
single nucleotide variant |
CHARGE association [RCV003497926]|not provided [RCV001598746] |
Chr8:60851094 [GRCh38]
Chr8:61763653 [GRCh37]
Chr8:8q12.2 |
pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.5210+115A>G |
single nucleotide variant |
not provided [RCV001645804] |
Chr8:60845524 [GRCh38]
Chr8:61758083 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2698-183T>G |
single nucleotide variant |
not provided [RCV001576922] |
Chr8:60821607 [GRCh38]
Chr8:61734166 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3051C>A (p.Gly1017=) |
single nucleotide variant |
not provided [RCV001723444] |
Chr8:60822596 [GRCh38]
Chr8:61735155 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys) |
single nucleotide variant |
CHD7-related condition [RCV003416411]|not provided [RCV001723476] |
Chr8:60838128 [GRCh38]
Chr8:61750687 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu) |
single nucleotide variant |
CHARGE association [RCV002032680]|CHARGE association [RCV002477902]|not provided [RCV001723496] |
Chr8:60841922 [GRCh38]
Chr8:61754481 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5405-176C>G |
single nucleotide variant |
not provided [RCV001682108] |
Chr8:60850317 [GRCh38]
Chr8:61762876 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2698-163T>C |
single nucleotide variant |
not provided [RCV001586804] |
Chr8:60821627 [GRCh38]
Chr8:61734186 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5666-308dup |
duplication |
not provided [RCV001562309] |
Chr8:60851705..60851706 [GRCh38]
Chr8:61764264..61764265 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4850+33T>C |
single nucleotide variant |
not provided [RCV001639722] |
Chr8:60842085 [GRCh38]
Chr8:61754644 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1665+269G>C |
single nucleotide variant |
not provided [RCV001557428] |
Chr8:60743366 [GRCh38]
Chr8:61655925 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3761A>C (p.His1254Pro) |
single nucleotide variant |
not provided [RCV001577728] |
Chr8:60830560 [GRCh38]
Chr8:61743119 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1665+130T>C |
single nucleotide variant |
not provided [RCV001714534] |
Chr8:60743227 [GRCh38]
Chr8:61655786 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8879_8880insAGA (p.Glu2960dup) |
insertion |
not provided [RCV001685836] |
Chr8:60865816..60865817 [GRCh38]
Chr8:61778375..61778376 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2613+217G>T |
single nucleotide variant |
not provided [RCV001558178] |
Chr8:60816718 [GRCh38]
Chr8:61729277 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8077-60T>A |
single nucleotide variant |
not provided [RCV001650187] |
Chr8:60864956 [GRCh38]
Chr8:61777515 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5665+267A>G |
single nucleotide variant |
not provided [RCV001568005] |
Chr8:60851586 [GRCh38]
Chr8:61764145 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7609-227C>T |
single nucleotide variant |
not provided [RCV001654742] |
Chr8:60860677 [GRCh38]
Chr8:61773236 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5895-78G>A |
single nucleotide variant |
not provided [RCV001683876] |
Chr8:60852420 [GRCh38]
Chr8:61764979 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5029C>A (p.Arg1677=) |
single nucleotide variant |
CHARGE association [RCV002072173]|CHARGE association [RCV002506672]|CHD7-related condition [RCV003910887]|not provided [RCV001566569] |
Chr8:60845042 [GRCh38]
Chr8:61757601 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2499-258C>G |
single nucleotide variant |
not provided [RCV001614440] |
Chr8:60816129 [GRCh38]
Chr8:61728688 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6026A>C (p.Glu2009Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003242105] |
Chr8:60852629 [GRCh38]
Chr8:61765188 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs) |
duplication |
CHARGE association [RCV000853267] |
Chr8:60856817..60856818 [GRCh38]
Chr8:61769376..61769377 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7146G>A (p.Thr2382=) |
single nucleotide variant |
CHARGE association [RCV000877350] |
Chr8:60856184 [GRCh38]
Chr8:61768743 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1053A>G (p.Val351=) |
single nucleotide variant |
CHARGE association [RCV001458151]|not provided [RCV000868601] |
Chr8:60742485 [GRCh38]
Chr8:61655044 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7831-9C>T |
single nucleotide variant |
not provided [RCV000885260] |
Chr8:60862187 [GRCh38]
Chr8:61774746 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4534-7T>G |
single nucleotide variant |
CHARGE association [RCV000872661] |
Chr8:60841637 [GRCh38]
Chr8:61754196 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.993T>C (p.Asn331=) |
single nucleotide variant |
not provided [RCV000974557] |
Chr8:60742425 [GRCh38]
Chr8:61654984 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) |
single nucleotide variant |
CHARGE association [RCV000869994]|not provided [RCV003432821]|not specified [RCV001195448] |
Chr8:60865135 [GRCh38]
Chr8:61777694 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) |
single nucleotide variant |
CHARGE association [RCV000875209]|Inborn genetic diseases [RCV003307645] |
Chr8:60837724 [GRCh38]
Chr8:61750283 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8550T>C (p.Asn2850=) |
single nucleotide variant |
CHARGE association [RCV000862857]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164667]|Inborn genetic diseases [RCV002409017]|not provided [RCV003424385] |
Chr8:60865489 [GRCh38]
Chr8:61778048 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5187A>G (p.Lys1729=) |
single nucleotide variant |
not provided [RCV000874753] |
Chr8:60845386 [GRCh38]
Chr8:61757945 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1410A>G (p.Glu470=) |
single nucleotide variant |
CHARGE association [RCV001079097]|CHD7-related condition [RCV003895296]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160696]|not provided [RCV000869261] |
Chr8:60742842 [GRCh38]
Chr8:61655401 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6603G>A (p.Lys2201=) |
single nucleotide variant |
CHARGE association [RCV001492664] |
Chr8:60853328 [GRCh38]
Chr8:61765887 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8646A>C (p.Gly2882=) |
single nucleotide variant |
CHARGE association [RCV000870929] |
Chr8:60865585 [GRCh38]
Chr8:61778144 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3054T>G (p.Pro1018=) |
single nucleotide variant |
CHARGE association [RCV000863683]|CHD7-related condition [RCV003892149]|Inborn genetic diseases [RCV003279127] |
Chr8:60822599 [GRCh38]
Chr8:61735158 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.4561A>G (p.Thr1521Ala) |
single nucleotide variant |
not provided [RCV001760466] |
Chr8:60841671 [GRCh38]
Chr8:61754230 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6990C>T (p.Gly2330=) |
single nucleotide variant |
CHD7-related condition [RCV003930424]|not provided [RCV000875589] |
Chr8:60856028 [GRCh38]
Chr8:61768587 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) |
single nucleotide variant |
CHARGE association [RCV000867814]|Intellectual disability [RCV001251704]|not provided [RCV001766775] |
Chr8:60852042 [GRCh38]
Chr8:61764601 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5771A>G (p.Tyr1924Cys) |
single nucleotide variant |
not provided [RCV001760704] |
Chr8:60852124 [GRCh38]
Chr8:61764683 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1380A>G (p.Pro460=) |
single nucleotide variant |
CHARGE association [RCV002064728] |
Chr8:60742812 [GRCh38]
Chr8:61655371 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3111C>A (p.Thr1037=) |
single nucleotide variant |
CHARGE association [RCV000977520] |
Chr8:60822656 [GRCh38]
Chr8:61735215 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7107C>T (p.Val2369=) |
single nucleotide variant |
CHARGE association [RCV002064755]|Inborn genetic diseases [RCV002363289]|not provided [RCV000874144] |
Chr8:60856145 [GRCh38]
Chr8:61768704 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6468C>T (p.Val2156=) |
single nucleotide variant |
CHARGE association [RCV000861986]|CHARGE association [RCV002507464]|not provided [RCV001655612]|not specified [RCV001195447] |
Chr8:60853193 [GRCh38]
Chr8:61765752 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.2850T>C (p.Ala950=) |
single nucleotide variant |
not provided [RCV000952033] |
Chr8:60822038 [GRCh38]
Chr8:61734597 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3912T>G (p.Ala1304=) |
single nucleotide variant |
CHARGE association [RCV001492269] |
Chr8:60836206 [GRCh38]
Chr8:61748765 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5263G>C (p.Asp1755His) |
single nucleotide variant |
CHARGE association [RCV001214302] |
Chr8:60848567 [GRCh38]
Chr8:61761126 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.748C>T (p.Arg250Cys) |
single nucleotide variant |
CHARGE association [RCV001244374]|CHARGE association [RCV002484355]|Inborn genetic diseases [RCV002568587] |
Chr8:60742180 [GRCh38]
Chr8:61654739 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4277A>G (p.Asp1426Gly) |
single nucleotide variant |
CHARGE association [RCV001207593] |
Chr8:60837759 [GRCh38]
Chr8:61750318 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys) |
single nucleotide variant |
CHARGE association [RCV001239225] |
Chr8:60821919 [GRCh38]
Chr8:61734478 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys) |
single nucleotide variant |
CHARGE association [RCV001244582]|not provided [RCV001726466] |
Chr8:60853302 [GRCh38]
Chr8:61765861 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.207T>G (p.Phe69Leu) |
single nucleotide variant |
CHARGE association [RCV001230199] |
Chr8:60741639 [GRCh38]
Chr8:61654198 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.152A>G (p.Gln51Arg) |
single nucleotide variant |
CHARGE association [RCV001226583] |
Chr8:60741584 [GRCh38]
Chr8:61654143 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu) |
single nucleotide variant |
CHARGE association [RCV001244800]|Inborn genetic diseases [RCV002436963] |
Chr8:60822055 [GRCh38]
Chr8:61734614 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1856A>G (p.Asp619Gly) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162308] |
Chr8:60781190 [GRCh38]
Chr8:61693749 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.947G>T (p.Ser316Ile) |
single nucleotide variant |
CHARGE association [RCV002491463]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159329] |
Chr8:60742379 [GRCh38]
Chr8:61654938 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs) |
indel |
CHARGE association [RCV001222705] |
Chr8:60862553..60862639 [GRCh38]
Chr8:61775112..61775198 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe) |
single nucleotide variant |
CHARGE association [RCV002558594]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164666] |
Chr8:60865375 [GRCh38]
Chr8:61777934 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.*1116C>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164762]|not provided [RCV002512140] |
Chr8:60867049 [GRCh38]
Chr8:61779608 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp) |
single nucleotide variant |
CHARGE association [RCV001219473]|CHARGE association [RCV002484192] |
Chr8:60820082 [GRCh38]
Chr8:61732641 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) |
single nucleotide variant |
CHARGE association [RCV001223181]|Inborn genetic diseases [RCV002348746]|not provided [RCV003163736] |
Chr8:60849107 [GRCh38]
Chr8:61761666 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) |
single nucleotide variant |
CHARGE association [RCV002032488]|CHARGE association [RCV002491468]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160697]|not specified [RCV001449746] |
Chr8:60743075 [GRCh38]
Chr8:61655634 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.281del (p.Pro94fs) |
deletion |
CHARGE association [RCV001043687] |
Chr8:60741710 [GRCh38]
Chr8:61654269 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5833C>A (p.Arg1945=) |
single nucleotide variant |
CHARGE association [RCV001435787]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160904] |
Chr8:60852186 [GRCh38]
Chr8:61764745 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr) |
single nucleotide variant |
CHARGE association [RCV001245656] |
Chr8:60865304 [GRCh38]
Chr8:61777863 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg) |
single nucleotide variant |
CHARGE association [RCV001245566]|CHARGE association [RCV002491827] |
Chr8:60865193 [GRCh38]
Chr8:61777752 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu) |
single nucleotide variant |
CHARGE association [RCV001044955]|CHARGE association [RCV002481917] |
Chr8:60742676 [GRCh38]
Chr8:61655235 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro) |
single nucleotide variant |
CHARGE association [RCV001209488]|not provided [RCV003235496] |
Chr8:60742886 [GRCh38]
Chr8:61655445 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7024T>C (p.Phe2342Leu) |
single nucleotide variant |
CHARGE association [RCV001237895] |
Chr8:60856062 [GRCh38]
Chr8:61768621 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.124C>T (p.Pro42Ser) |
single nucleotide variant |
CHARGE association [RCV001045599] |
Chr8:60741556 [GRCh38]
Chr8:61654115 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys) |
single nucleotide variant |
CHARGE association [RCV001238047]|CHARGE association [RCV002484299] |
Chr8:60823862 [GRCh38]
Chr8:61736421 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter) |
single nucleotide variant |
CHARGE association [RCV001243965] |
Chr8:60860976 [GRCh38]
Chr8:61773535 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2613+1G>T |
single nucleotide variant |
CHARGE association [RCV001227917] |
Chr8:60816502 [GRCh38]
Chr8:61729061 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6619T>C (p.Cys2207Arg) |
single nucleotide variant |
CHARGE association [RCV001244156] |
Chr8:60853344 [GRCh38]
Chr8:61765903 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val) |
single nucleotide variant |
CHARGE association [RCV002549115]|not provided [RCV000999040] |
Chr8:60845028 [GRCh38]
Chr8:61757587 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) |
single nucleotide variant |
CHARGE association [RCV000889663] |
Chr8:60823908 [GRCh38]
Chr8:61736467 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5532C>T (p.Asp1844=) |
single nucleotide variant |
CHARGE association [RCV001408655] |
Chr8:60850620 [GRCh38]
Chr8:61763179 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2239-297C>G |
single nucleotide variant |
not provided [RCV001561951] |
Chr8:60800091 [GRCh38]
Chr8:61712650 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp) |
single nucleotide variant |
CHARGE association [RCV002488361]|not provided [RCV001540857] |
Chr8:60820049 [GRCh38]
Chr8:61732608 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3778+257G>A |
single nucleotide variant |
not provided [RCV001556606] |
Chr8:60830834 [GRCh38]
Chr8:61743393 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.883C>T (p.Arg295Trp) |
single nucleotide variant |
CHARGE association [RCV001882654]|not provided [RCV001561964] |
Chr8:60742315 [GRCh38]
Chr8:61654874 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1077A>G (p.Gln359=) |
single nucleotide variant |
not provided [RCV001532144] |
Chr8:60742509 [GRCh38]
Chr8:61655068 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8076+157_8076+158insTCTTACATC |
insertion |
not provided [RCV001556949] |
Chr8:60862809..60862810 [GRCh38]
Chr8:61775368..61775369 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2957+5G>A |
single nucleotide variant |
CHARGE association [RCV000988064] |
Chr8:60822150 [GRCh38]
Chr8:61734709 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2097-2A>G |
single nucleotide variant |
CHARGE association [RCV002573180]|not provided [RCV001563166] |
Chr8:60794984 [GRCh38]
Chr8:61707543 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.831G>C (p.Pro277=) |
single nucleotide variant |
CHARGE association [RCV002488406]|CHARGE association [RCV002570813]|not provided [RCV001577907] |
Chr8:60742263 [GRCh38]
Chr8:61654822 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5895-1G>A |
single nucleotide variant |
not provided [RCV002469727] |
Chr8:60852497 [GRCh38]
Chr8:61765056 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2808G>A (p.Met936Ile) |
single nucleotide variant |
not provided [RCV003234464] |
Chr8:60821900 [GRCh38]
Chr8:61734459 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5420A>C (p.Asn1807Thr) |
single nucleotide variant |
CHARGE association [RCV003094136]|See cases [RCV002252377] |
Chr8:60850508 [GRCh38]
Chr8:61763067 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6626C>T (p.Ala2209Val) |
single nucleotide variant |
not provided [RCV003237220] |
Chr8:60853351 [GRCh38]
Chr8:61765910 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6483T>A (p.His2161Gln) |
single nucleotide variant |
CHARGE association [RCV002073348]|CHD7-related condition [RCV003968510]|Inborn genetic diseases [RCV002359222]|not provided [RCV001717888] |
Chr8:60853208 [GRCh38]
Chr8:61765767 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.3523-336T>C |
single nucleotide variant |
not provided [RCV001576310] |
Chr8:60829986 [GRCh38]
Chr8:61742545 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2697+172_2697+174del |
microsatellite |
not provided [RCV001560899] |
Chr8:60820257..60820259 [GRCh38]
Chr8:61732816..61732818 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.381T>C (p.Pro127=) |
single nucleotide variant |
CHARGE association [RCV002501888]|CHARGE association [RCV002570685]|CHD7-related condition [RCV003910871]|not provided [RCV001550353] |
Chr8:60741813 [GRCh38]
Chr8:61654372 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.905CTA[1] (p.Thr303del) |
microsatellite |
not provided [RCV002467270] |
Chr8:60742337..60742339 [GRCh38]
Chr8:61654896..61654898 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7921_7922del (p.Leu2641fs) |
deletion |
not provided [RCV001550795] |
Chr8:60862285..60862286 [GRCh38]
Chr8:61774844..61774845 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4850+1G>A |
single nucleotide variant |
CHARGE association [RCV002573592]|not provided [RCV002467274] |
Chr8:60842053 [GRCh38]
Chr8:61754612 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys) |
single nucleotide variant |
CHARGE association [RCV002471976] |
Chr8:60853363 [GRCh38]
Chr8:61765922 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln) |
single nucleotide variant |
CHARGE association [RCV002472292]|not provided [RCV003491119] |
Chr8:60852246 [GRCh38]
Chr8:61764805 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2171del (p.Asn724fs) |
deletion |
not provided [RCV001008525] |
Chr8:60795057 [GRCh38]
Chr8:61707616 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6018dup (p.Ser2007fs) |
duplication |
not provided [RCV001008750] |
Chr8:60852615..60852616 [GRCh38]
Chr8:61765174..61765175 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7593dup (p.Thr2532fs) |
duplication |
CHARGE association [RCV001263213] |
Chr8:60856871..60856872 [GRCh38]
Chr8:61769430..61769431 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1602C>A (p.His534Gln) |
single nucleotide variant |
not provided [RCV001532145] |
Chr8:60743034 [GRCh38]
Chr8:61655593 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5865G>A (p.Arg1955=) |
single nucleotide variant |
CHARGE association [RCV002072314]|CHARGE association [RCV002495939]|not provided [RCV001591597] |
Chr8:60852218 [GRCh38]
Chr8:61764777 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8076+146del |
deletion |
not provided [RCV001654722] |
Chr8:60862796 [GRCh38]
Chr8:61775355 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4534-294C>T |
single nucleotide variant |
not provided [RCV001659662] |
Chr8:60841350 [GRCh38]
Chr8:61753909 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2499-268C>G |
single nucleotide variant |
not provided [RCV001597717] |
Chr8:60816119 [GRCh38]
Chr8:61728678 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) |
single nucleotide variant |
CHARGE association [RCV002488480]|CHARGE association [RCV002539746]|not provided [RCV001723290] |
Chr8:60865080 [GRCh38]
Chr8:61777639 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2499-270C>G |
single nucleotide variant |
not provided [RCV001717870] |
Chr8:60816117 [GRCh38]
Chr8:61728676 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3989+34A>G |
single nucleotide variant |
not provided [RCV001619616] |
Chr8:60836317 [GRCh38]
Chr8:61748876 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.-174-222T>C |
single nucleotide variant |
not provided [RCV001537574] |
Chr8:60741037 [GRCh38]
Chr8:61653596 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1666-100_1666-94del |
deletion |
not provided [RCV001597384] |
Chr8:60780898..60780904 [GRCh38]
Chr8:61693457..61693463 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7901A>G (p.Asn2634Ser) |
single nucleotide variant |
CHARGE association [RCV002570668]|not provided [RCV001545631] |
Chr8:60862266 [GRCh38]
Chr8:61774825 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5535-68T>C |
single nucleotide variant |
not provided [RCV001718110] |
Chr8:60850964 [GRCh38]
Chr8:61763523 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8077-12C>G |
single nucleotide variant |
not provided [RCV001581886] |
Chr8:60865004 [GRCh38]
Chr8:61777563 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2239-332A>T |
single nucleotide variant |
not provided [RCV001678354] |
Chr8:60800056 [GRCh38]
Chr8:61712615 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3523-67A>G |
single nucleotide variant |
not provided [RCV001661202] |
Chr8:60830255 [GRCh38]
Chr8:61742814 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5426T>C (p.Met1809Thr) |
single nucleotide variant |
not provided [RCV001581070] |
Chr8:60850514 [GRCh38]
Chr8:61763073 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5467A>G (p.Met1823Val) |
single nucleotide variant |
CHARGE association [RCV002592483]|not provided [RCV001587926] |
Chr8:60850555 [GRCh38]
Chr8:61763114 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) |
single nucleotide variant |
CHARGE association [RCV002072932]|CHARGE association [RCV002488441]|Inborn genetic diseases [RCV002388622]|not provided [RCV001620564] |
Chr8:60856765 [GRCh38]
Chr8:61769324 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.2958-106C>T |
single nucleotide variant |
not provided [RCV001598305] |
Chr8:60822397 [GRCh38]
Chr8:61734956 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.73G>A (p.Gly25Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002386479]|not provided [RCV001591961] |
Chr8:60741505 [GRCh38]
Chr8:61654064 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.3990-59dup |
duplication |
not provided [RCV001637829] |
Chr8:60836751..60836752 [GRCh38]
Chr8:61749310..61749311 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3990-59del |
deletion |
not provided [RCV001713167] |
Chr8:60836752 [GRCh38]
Chr8:61749311 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7609-57C>A |
single nucleotide variant |
not provided [RCV001713168] |
Chr8:60860847 [GRCh38]
Chr8:61773406 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6123C>T (p.Ser2041=) |
single nucleotide variant |
not provided [RCV001726639]|not specified [RCV001699974] |
Chr8:60852848 [GRCh38]
Chr8:61765407 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.6087del (p.Val2030fs) |
deletion |
not provided [RCV001092871] |
Chr8:60852688 [GRCh38]
Chr8:61765247 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.*21A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161146] |
Chr8:60865954 [GRCh38]
Chr8:61778513 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1737T>C |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161255] |
Chr8:60867670 [GRCh38]
Chr8:61780229 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr) |
single nucleotide variant |
CHD7-related condition [RCV003938582]|Intellectual disability [RCV001251708] |
Chr8:60865292 [GRCh38]
Chr8:61777851 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5082G>T (p.Lys1694Asn) |
single nucleotide variant |
CHARGE association [RCV001070715] |
Chr8:60845281 [GRCh38]
Chr8:61757840 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-70A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162200] |
Chr8:60741363 [GRCh38]
Chr8:61653922 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn) |
single nucleotide variant |
CHARGE association [RCV001303651]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162607] |
Chr8:60865107 [GRCh38]
Chr8:61777666 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5126A>T (p.Asp1709Val) |
single nucleotide variant |
not specified [RCV001194047] |
Chr8:60845325 [GRCh38]
Chr8:61757884 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-25T>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162201] |
Chr8:60741408 [GRCh38]
Chr8:61653967 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*644A>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162708] |
Chr8:60866577 [GRCh38]
Chr8:61779136 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*190A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161149] |
Chr8:60866123 [GRCh38]
Chr8:61778682 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6463C>T (p.Pro2155Ser) |
single nucleotide variant |
CHARGE association [RCV001069398] |
Chr8:60853188 [GRCh38]
Chr8:61765747 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NC_000008.11:g.(?_60741413)_(60856908_?)dup |
duplication |
CHARGE association [RCV001033308] |
Chr8:61653972..61769467 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu) |
single nucleotide variant |
CHARGE association [RCV001379714]|not provided [RCV001172187] |
Chr8:60823864 [GRCh38]
Chr8:61736423 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NC_000008.11:g.(?_60741413)_(60865953_?)dup |
duplication |
CHARGE association [RCV001033506] |
Chr8:61653972..61778512 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7975G>A (p.Gly2659Ser) |
single nucleotide variant |
not specified [RCV001195600] |
Chr8:60862551 [GRCh38]
Chr8:61775110 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.-181C>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160583] |
Chr8:60679076 [GRCh38]
Chr8:61591635 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5345C>T (p.Pro1782Leu) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159524] |
Chr8:60849095 [GRCh38]
Chr8:61761654 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8773G>A (p.Ala2925Thr) |
single nucleotide variant |
CHARGE association [RCV001246073] |
Chr8:60865712 [GRCh38]
Chr8:61778271 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro) |
single nucleotide variant |
CHARGE association [RCV003603087]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161019]|not provided [RCV001560770] |
Chr8:60856748 [GRCh38]
Chr8:61769307 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4850+76A>G |
single nucleotide variant |
not provided [RCV001665615] |
Chr8:60842128 [GRCh38]
Chr8:61754687 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3990-81G>T |
single nucleotide variant |
not provided [RCV001667832] |
Chr8:60836736 [GRCh38]
Chr8:61749295 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8623G>C (p.Gly2875Arg) |
single nucleotide variant |
CHARGE association [RCV001882732]|not provided [RCV001590294] |
Chr8:60865562 [GRCh38]
Chr8:61778121 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.831G>A (p.Pro277=) |
single nucleotide variant |
CHARGE association [RCV003497931]|not provided [RCV001680761] |
Chr8:60742263 [GRCh38]
Chr8:61654822 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3989+51C>A |
single nucleotide variant |
not provided [RCV001647908] |
Chr8:60836334 [GRCh38]
Chr8:61748893 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8076+163_8076+166dup |
duplication |
not provided [RCV001693248] |
Chr8:60862814..60862815 [GRCh38]
Chr8:61775373..61775374 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5666-158T>C |
single nucleotide variant |
not provided [RCV001587471] |
Chr8:60851861 [GRCh38]
Chr8:61764420 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.-174-212C>A |
single nucleotide variant |
not provided [RCV001691182] |
Chr8:60741047 [GRCh38]
Chr8:61653606 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.794A>G (p.His265Arg) |
single nucleotide variant |
not provided [RCV001588439] |
Chr8:60742226 [GRCh38]
Chr8:61654785 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.257C>A (p.Pro86Gln) |
single nucleotide variant |
CHARGE association [RCV001047646] |
Chr8:60741689 [GRCh38]
Chr8:61654248 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3990-248T>A |
single nucleotide variant |
not provided [RCV001534073] |
Chr8:60836569 [GRCh38]
Chr8:61749128 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2097-311G>A |
single nucleotide variant |
not provided [RCV001587519] |
Chr8:60794675 [GRCh38]
Chr8:61707234 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu) |
single nucleotide variant |
CHARGE association [RCV001047805]|CHARGE association [RCV002489599] |
Chr8:60860977 [GRCh38]
Chr8:61773536 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5210+129G>C |
single nucleotide variant |
not provided [RCV001609712] |
Chr8:60845538 [GRCh38]
Chr8:61758097 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val) |
single nucleotide variant |
CHARGE association [RCV001882725]|CHARGE association [RCV002488428]|not provided [RCV001587745] |
Chr8:60823876 [GRCh38]
Chr8:61736435 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2698-245TA[4] |
microsatellite |
not provided [RCV001714197] |
Chr8:60821545..60821546 [GRCh38]
Chr8:61734104..61734105 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5404+41C>T |
single nucleotide variant |
not provided [RCV001708077] |
Chr8:60849195 [GRCh38]
Chr8:61761754 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.295G>A (p.Ala99Thr) |
single nucleotide variant |
CHARGE association [RCV002032559]|not provided [RCV001546355] |
Chr8:60741727 [GRCh38]
Chr8:61654286 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3378+208A>G |
single nucleotide variant |
not provided [RCV001668652] |
Chr8:60824224 [GRCh38]
Chr8:61736783 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3201+21T>G |
single nucleotide variant |
not provided [RCV001645240] |
Chr8:60822767 [GRCh38]
Chr8:61735326 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5051-25A>G |
single nucleotide variant |
CHD7-related condition [RCV003941065]|not provided [RCV001671827] |
Chr8:60845225 [GRCh38]
Chr8:61757784 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.2499-256C>G |
single nucleotide variant |
not provided [RCV001652518] |
Chr8:60816131 [GRCh38]
Chr8:61728690 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys) |
single nucleotide variant |
CHARGE association [RCV001070088]|not provided [RCV002466620] |
Chr8:60852637 [GRCh38]
Chr8:61765196 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4377A>G (p.Glu1459=) |
single nucleotide variant |
CHARGE association [RCV002071946]|CHD7-related condition [RCV003940987]|not provided [RCV001539171] |
Chr8:60838099 [GRCh38]
Chr8:61750658 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6536A>G (p.Glu2179Gly) |
single nucleotide variant |
CHARGE association [RCV001070430] |
Chr8:60853261 [GRCh38]
Chr8:61765820 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1887A>G (p.Leu629=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162309] |
Chr8:60781221 [GRCh38]
Chr8:61693780 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg) |
single nucleotide variant |
CHARGE association [RCV001216400]|CHD7-related condition [RCV003973114]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162605]|not provided [RCV001538259] |
Chr8:60856869 [GRCh38]
Chr8:61769428 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5405-254T>C |
single nucleotide variant |
not provided [RCV001583774] |
Chr8:60850239 [GRCh38]
Chr8:61762798 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2425C>T (p.Arg809Cys) |
single nucleotide variant |
CHARGE association [RCV002300557]|not provided [RCV001589810] |
Chr8:60801576 [GRCh38]
Chr8:61714135 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8163C>A (p.Pro2721=) |
single nucleotide variant |
not provided [RCV001547444] |
Chr8:60865102 [GRCh38]
Chr8:61777661 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.*527C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162706] |
Chr8:60866460 [GRCh38]
Chr8:61779019 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*2057G>A |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162805] |
Chr8:60867990 [GRCh38]
Chr8:61780549 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2097-199G>A |
single nucleotide variant |
not provided [RCV001530727] |
Chr8:60794787 [GRCh38]
Chr8:61707346 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) |
single nucleotide variant |
CHARGE association [RCV001195591] |
Chr8:60823886 [GRCh38]
Chr8:61736445 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln) |
single nucleotide variant |
CHARGE association [RCV001208328]|not provided [RCV001760178] |
Chr8:60844985 [GRCh38]
Chr8:61757544 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1310A>G (p.His437Arg) |
single nucleotide variant |
CHARGE association [RCV001208373] |
Chr8:60742742 [GRCh38]
Chr8:61655301 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu) |
single nucleotide variant |
CHARGE association [RCV001056100]|CHD7-related condition [RCV003906161] |
Chr8:60861040 [GRCh38]
Chr8:61773599 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4353+1G>T |
single nucleotide variant |
CHARGE association [RCV001060107] |
Chr8:60837836 [GRCh38]
Chr8:61750395 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.67G>A (p.Gly23Ser) |
single nucleotide variant |
CHARGE association [RCV001060152] |
Chr8:60741499 [GRCh38]
Chr8:61654058 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.53G>A (p.Ser18Asn) |
single nucleotide variant |
CHARGE association [RCV001233272] |
Chr8:60741485 [GRCh38]
Chr8:61654044 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu) |
single nucleotide variant |
CHARGE association [RCV001197265] |
Chr8:60781010 [GRCh38]
Chr8:61693569 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3201+1G>A |
single nucleotide variant |
CHARGE association [RCV001206597] |
Chr8:60822747 [GRCh38]
Chr8:61735306 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu) |
single nucleotide variant |
CHARGE association [RCV001234729]|CHD7-related condition [RCV003898228]|not provided [RCV003481008] |
Chr8:60853445 [GRCh38]
Chr8:61766004 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala) |
single nucleotide variant |
CHARGE association [RCV001215007]|CHARGE association [RCV002484175] |
Chr8:60742747 [GRCh38]
Chr8:61655306 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser) |
single nucleotide variant |
CHARGE association [RCV001235909] |
Chr8:60854405 [GRCh38]
Chr8:61766964 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1260A>G (p.Ile420Met) |
single nucleotide variant |
CHARGE association [RCV001220385] |
Chr8:60742692 [GRCh38]
Chr8:61655251 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5527G>A (p.Gly1843Ser) |
single nucleotide variant |
CHARGE association [RCV001035747] |
Chr8:60850615 [GRCh38]
Chr8:61763174 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser) |
single nucleotide variant |
CHARGE association [RCV001035877] |
Chr8:60853395 [GRCh38]
Chr8:61765954 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.584G>A (p.Arg195His) |
single nucleotide variant |
CHARGE association [RCV001056505]|See cases [RCV002252304] |
Chr8:60742016 [GRCh38]
Chr8:61654575 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3470del (p.Pro1157fs) |
deletion |
CHARGE association [RCV001219906] |
Chr8:60828752 [GRCh38]
Chr8:61741311 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7634T>C (p.Phe2545Ser) |
single nucleotide variant |
CHARGE association [RCV001061170] |
Chr8:60860929 [GRCh38]
Chr8:61773488 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5833C>G (p.Arg1945Gly) |
single nucleotide variant |
CHARGE association [RCV001206550] |
Chr8:60852186 [GRCh38]
Chr8:61764745 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4039G>A (p.Ala1347Thr) |
single nucleotide variant |
CHARGE association [RCV001057373] |
Chr8:60836866 [GRCh38]
Chr8:61749425 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2767dup (p.Asp923fs) |
duplication |
CHARGE association [RCV001201814] |
Chr8:60821857..60821858 [GRCh38]
Chr8:61734416..61734417 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu) |
single nucleotide variant |
CHARGE association [RCV001053685] |
Chr8:60853179 [GRCh38]
Chr8:61765738 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.664C>T (p.Gln222Ter) |
single nucleotide variant |
not provided [RCV001200305] |
Chr8:60742096 [GRCh38]
Chr8:61654655 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln) |
single nucleotide variant |
CHARGE association [RCV001248643]|Inborn genetic diseases [RCV002393665] |
Chr8:60856796 [GRCh38]
Chr8:61769355 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7201A>T (p.Arg2401Trp) |
single nucleotide variant |
CHARGE association [RCV001237037] |
Chr8:60856481 [GRCh38]
Chr8:61769040 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala) |
single nucleotide variant |
CHARGE association [RCV001234068]|CHD7-related condition [RCV003908453]|not provided [RCV001556066] |
Chr8:60781030 [GRCh38]
Chr8:61693589 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2468T>C (p.Ile823Thr) |
single nucleotide variant |
CHARGE association [RCV001231528] |
Chr8:60808242 [GRCh38]
Chr8:61720801 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2245C>T (p.Arg749Trp) |
single nucleotide variant |
CHARGE association [RCV001236027] |
Chr8:60800394 [GRCh38]
Chr8:61712953 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5330del (p.Phe1777fs) |
deletion |
CHARGE association [RCV001058218] |
Chr8:60849078 [GRCh38]
Chr8:61761637 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2355C>T (p.Asn785=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164339] |
Chr8:60800504 [GRCh38]
Chr8:61713063 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7971+6C>G |
single nucleotide variant |
CHARGE association [RCV001248166]|CHARGE association [RCV002484394] |
Chr8:60862342 [GRCh38]
Chr8:61774901 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.756G>A (p.Ser252=) |
single nucleotide variant |
CHARGE association [RCV001214548] |
Chr8:60742188 [GRCh38]
Chr8:61654747 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6104-2A>T |
single nucleotide variant |
CHARGE association [RCV001214662] |
Chr8:60852827 [GRCh38]
Chr8:61765386 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.476C>T (p.Pro159Leu) |
single nucleotide variant |
CHARGE association [RCV001206254] |
Chr8:60741908 [GRCh38]
Chr8:61654467 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.910A>G (p.Ile304Val) |
single nucleotide variant |
CHARGE association [RCV001206989] |
Chr8:60742342 [GRCh38]
Chr8:61654901 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys) |
single nucleotide variant |
CHARGE association [RCV001052158]|CHARGE association [RCV002481966]|Inborn genetic diseases [RCV002436605] |
Chr8:60821902 [GRCh38]
Chr8:61734461 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter) |
single nucleotide variant |
CHARGE association [RCV001040680] |
Chr8:60841940 [GRCh38]
Chr8:61754499 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3601A>G (p.Lys1201Glu) |
single nucleotide variant |
CHARGE association [RCV001055145] |
Chr8:60830400 [GRCh38]
Chr8:61742959 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro) |
single nucleotide variant |
CHARGE association [RCV001211110] |
Chr8:60830440 [GRCh38]
Chr8:61742999 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5895-5A>T |
single nucleotide variant |
CHARGE association [RCV001216673] |
Chr8:60852493 [GRCh38]
Chr8:61765052 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs) |
deletion |
CHARGE association [RCV001207426] |
Chr8:60854404..60854405 [GRCh38]
Chr8:61766963..61766964 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5894+5G>A |
single nucleotide variant |
CHARGE association [RCV001041025] |
Chr8:60852252 [GRCh38]
Chr8:61764811 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6775+1G>T |
single nucleotide variant |
CHARGE association [RCV001247034]|not provided [RCV001780187] |
Chr8:60853501 [GRCh38]
Chr8:61766060 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.602A>G (p.Gln201Arg) |
single nucleotide variant |
CHARGE association [RCV001059725]|not provided [RCV001655672] |
Chr8:60742034 [GRCh38]
Chr8:61654593 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs) |
deletion |
CHARGE association [RCV001059808] |
Chr8:60828797..60828798 [GRCh38]
Chr8:61741356..61741357 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5932del (p.Val1978fs) |
deletion |
CHARGE association [RCV001245783] |
Chr8:60852534 [GRCh38]
Chr8:61765093 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3025G>A (p.Glu1009Lys) |
single nucleotide variant |
CHARGE association [RCV001063947] |
Chr8:60822570 [GRCh38]
Chr8:61735129 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2803C>G (p.Leu935Val) |
single nucleotide variant |
CHARGE association [RCV001035424] |
Chr8:60821895 [GRCh38]
Chr8:61734454 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2665G>A (p.Asp889Asn) |
single nucleotide variant |
CHARGE association [RCV001064385] |
Chr8:60820058 [GRCh38]
Chr8:61732617 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6854dup (p.Asp2285fs) |
duplication |
not provided [RCV001008276] |
Chr8:60854440..60854441 [GRCh38]
Chr8:61766999..61767000 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7701_7702del (p.Arg2568fs) |
microsatellite |
CHARGE association [RCV001249610] |
Chr8:60860992..60860993 [GRCh38]
Chr8:61773551..61773552 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7276del (p.Gln2426fs) |
deletion |
CHARGE association [RCV001195545] |
Chr8:60856554 [GRCh38]
Chr8:61769113 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8699C>A (p.Pro2900Gln) |
single nucleotide variant |
CHARGE association [RCV001201756] |
Chr8:60865638 [GRCh38]
Chr8:61778197 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8892G>A (p.Lys2964=) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001159745] |
Chr8:60865831 [GRCh38]
Chr8:61778390 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1120C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001164763] |
Chr8:60867053 [GRCh38]
Chr8:61779612 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs) |
insertion |
CHARGE association [RCV001213234] |
Chr8:60862644..60862645 [GRCh38]
Chr8:61775203..61775204 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7814_7815del (p.Met2605fs) |
deletion |
not provided [RCV001092872] |
Chr8:60861109..60861110 [GRCh38]
Chr8:61773668..61773669 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala) |
single nucleotide variant |
CHARGE association [RCV001197447]|CHARGE association [RCV002489737]|Inborn genetic diseases [RCV002554857]|not provided [RCV001092873] |
Chr8:60865896 [GRCh38]
Chr8:61778455 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2389dup (p.Ala797fs) |
duplication |
not provided [RCV001009310] |
Chr8:60801539..60801540 [GRCh38]
Chr8:61714098..61714099 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.-102G>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160584] |
Chr8:60741331 [GRCh38]
Chr8:61653890 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val) |
single nucleotide variant |
CHARGE association [RCV001210780]|Hearing impairment [RCV001375425] |
Chr8:60852930 [GRCh38]
Chr8:61765489 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser) |
single nucleotide variant |
CHARGE association [RCV001041645] |
Chr8:60781300 [GRCh38]
Chr8:61693859 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu) |
single nucleotide variant |
CHARGE association [RCV001216103]|not provided [RCV001552334] |
Chr8:60822735 [GRCh38]
Chr8:61735294 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8006dup (p.Pro2670fs) |
duplication |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001009618] |
Chr8:60862581..60862582 [GRCh38]
Chr8:61775140..61775141 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.559C>T (p.Gln187Ter) |
single nucleotide variant |
not specified [RCV001002052] |
Chr8:60741991 [GRCh38]
Chr8:61654550 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly) |
single nucleotide variant |
CHARGE association [RCV001232785]|not provided [RCV003456481] |
Chr8:60854437 [GRCh38]
Chr8:61766996 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3509A>G (p.Lys1170Arg) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001160795] |
Chr8:60828793 [GRCh38]
Chr8:61741352 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7294G>A (p.Val2432Met) |
single nucleotide variant |
CHARGE association [RCV001457694]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161016] |
Chr8:60856574 [GRCh38]
Chr8:61769133 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2919_2927del (p.Glu974_Val976del) |
deletion |
CHARGE association [RCV001069155] |
Chr8:60822106..60822114 [GRCh38]
Chr8:61734665..61734673 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5818C>G (p.Arg1940Gly) |
single nucleotide variant |
CHARGE association [RCV001205150] |
Chr8:60852171 [GRCh38]
Chr8:61764730 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.*1804T>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001161256] |
Chr8:60867737 [GRCh38]
Chr8:61780296 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4777C>T (p.Arg1593Cys) |
single nucleotide variant |
CHARGE association [RCV001047941] |
Chr8:60841979 [GRCh38]
Chr8:61754538 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys) |
single nucleotide variant |
CHARGE association [RCV001062831]|CHARGE association [RCV002482068] |
Chr8:60852142 [GRCh38]
Chr8:61764701 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4659T>A (p.Ile1553=) |
single nucleotide variant |
CHARGE association [RCV001052509]|CHARGE association [RCV002489625]|not provided [RCV001564851]|not specified [RCV001195446] |
Chr8:60841861 [GRCh38]
Chr8:61754420 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1261C>A (p.Pro421Thr) |
single nucleotide variant |
CHARGE association [RCV001038720] |
Chr8:60742693 [GRCh38]
Chr8:61655252 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.355G>T (p.Gly119Cys) |
single nucleotide variant |
CHARGE association [RCV001056900]|CHARGE association [RCV002505613]|Inborn genetic diseases [RCV002451232] |
Chr8:60741787 [GRCh38]
Chr8:61654346 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4203_4204del (p.His1401fs) |
deletion |
CHARGE association [RCV001197619] |
Chr8:60837684..60837685 [GRCh38]
Chr8:61750243..61750244 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5211-2A>G |
single nucleotide variant |
CHARGE association [RCV001215999] |
Chr8:60848513 [GRCh38]
Chr8:61761072 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.689C>A (p.Ser230Ter) |
single nucleotide variant |
CHARGE association [RCV001203917] |
Chr8:60742121 [GRCh38]
Chr8:61654680 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val) |
single nucleotide variant |
CHARGE association [RCV001063480]|not provided [RCV001562078] |
Chr8:60822546 [GRCh38]
Chr8:61735105 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4644+14C>T |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162413] |
Chr8:60841768 [GRCh38]
Chr8:61754327 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) |
single nucleotide variant |
CHARGE association [RCV002557387]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001162519]|not provided [RCV001724259] |
Chr8:60853171 [GRCh38]
Chr8:61765730 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.57A>C (p.Glu19Asp) |
single nucleotide variant |
CHARGE association [RCV001034858] |
Chr8:60741489 [GRCh38]
Chr8:61654048 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735) |
copy number gain |
duplication 8q12 [RCV001255692] |
Chr8:60026663..63779735 [GRCh37]
Chr8:8q12.1-12.3 |
likely pathogenic |
| NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val) |
single nucleotide variant |
CHARGE association [RCV001879830]|CHARGE association [RCV002504373]|Intellectual disability [RCV001251705] |
Chr8:60852211 [GRCh38]
Chr8:61764770 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.560A>C (p.Gln187Pro) |
single nucleotide variant |
Intellectual disability [RCV001251706] |
Chr8:60741992 [GRCh38]
Chr8:61654551 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.891G>C (p.Gln297His) |
single nucleotide variant |
Intellectual disability [RCV001251710] |
Chr8:60742323 [GRCh38]
Chr8:61654882 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6302T>C (p.Leu2101Pro) |
single nucleotide variant |
Microcephaly [RCV001252918] |
Chr8:60853027 [GRCh38]
Chr8:61765586 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val) |
single nucleotide variant |
CHARGE association [RCV001253219] |
Chr8:60841989 [GRCh38]
Chr8:61754548 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu) |
single nucleotide variant |
CHARGE association [RCV002570462]|Intellectual disability [RCV001251707] |
Chr8:60821911 [GRCh38]
Chr8:61734470 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly) |
single nucleotide variant |
CHARGE association [RCV003120508]|Intellectual disability [RCV001251709] |
Chr8:60865739 [GRCh38]
Chr8:61778298 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6207C>T (p.Leu2069=) |
single nucleotide variant |
CHARGE association [RCV001499195] |
Chr8:60852932 [GRCh38]
Chr8:61765491 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.860C>T (p.Pro287Leu) |
single nucleotide variant |
CHARGE association [RCV001262900] |
Chr8:60742292 [GRCh38]
Chr8:61654851 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.6746del (p.Asp2249fs) |
deletion |
Inborn genetic diseases [RCV001267438] |
Chr8:60853471 [GRCh38]
Chr8:61766030 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2867del (p.Ser956fs) |
deletion |
Inborn genetic diseases [RCV001267610] |
Chr8:60822055 [GRCh38]
Chr8:61734614 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3201+1G>T |
single nucleotide variant |
Inborn genetic diseases [RCV001267632] |
Chr8:60822747 [GRCh38]
Chr8:61735306 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3091T>G (p.Trp1031Gly) |
single nucleotide variant |
Chromatinopathy [RCV001261222] |
Chr8:60822636 [GRCh38]
Chr8:61735195 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1848del (p.Asp618fs) |
deletion |
CHARGE association [RCV001334945] |
Chr8:60781182 [GRCh38]
Chr8:61693741 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5405G>A (p.Gly1802Asp) |
single nucleotide variant |
3MC syndrome [RCV001261225]|CHARGE association [RCV002541576] |
Chr8:60850493 [GRCh38]
Chr8:61763052 [GRCh37]
Chr8:8q12.2 |
pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.5243T>G (p.Leu1748Arg) |
single nucleotide variant |
Wiedemann-Steiner syndrome [RCV001261224] |
Chr8:60848547 [GRCh38]
Chr8:61761106 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3367_3368dup (p.Met1123fs) |
duplication |
CHARGE association [RCV001261223] |
Chr8:60824004..60824005 [GRCh38]
Chr8:61736563..61736564 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7078A>T (p.Lys2360Ter) |
single nucleotide variant |
CHARGE association [RCV001261227] |
Chr8:60856116 [GRCh38]
Chr8:61768675 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6341_6358dup (p.Asp2119_Pro2120insHisHisIleLeuAsnAsp) |
duplication |
CHARGE association [RCV001293652] |
Chr8:60853065..60853066 [GRCh38]
Chr8:61765624..61765625 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.613C>T (p.Gln205Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV001266971] |
Chr8:60742045 [GRCh38]
Chr8:61654604 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5211-18C>T |
single nucleotide variant |
CHARGE association [RCV003497928]|not provided [RCV001641676] |
Chr8:60848497 [GRCh38]
Chr8:61761056 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.4159G>A (p.Asp1387Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV001266096] |
Chr8:60836986 [GRCh38]
Chr8:61749545 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1751A>G (p.Asp584Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV001266625] |
Chr8:60781085 [GRCh38]
Chr8:61693644 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter) |
single nucleotide variant |
CHARGE association [RCV001262407] |
Chr8:60852997 [GRCh38]
Chr8:61765556 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1543C>A (p.Pro515Thr) |
single nucleotide variant |
CHARGE association [RCV003603089]|Inborn genetic diseases [RCV001267060] |
Chr8:60742975 [GRCh38]
Chr8:61655534 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly) |
single nucleotide variant |
Neurodevelopmental abnormality [RCV001264718] |
Chr8:60852673 [GRCh38]
Chr8:61765232 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8081_8082dup (p.Val2695fs) |
duplication |
not provided [RCV001268495] |
Chr8:60865017..60865018 [GRCh38]
Chr8:61777576..61777577 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2609dup (p.Glu871fs) |
duplication |
not provided [RCV001268090] |
Chr8:60816496..60816497 [GRCh38]
Chr8:61729055..61729056 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7782G>A (p.Trp2594Ter) |
single nucleotide variant |
not provided [RCV001268266] |
Chr8:60861077 [GRCh38]
Chr8:61773636 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.417G>A (p.Val139=) |
single nucleotide variant |
CHARGE association [RCV002001974] |
Chr8:60741849 [GRCh38]
Chr8:61654408 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6756del (p.Glu2253fs) |
deletion |
not provided [RCV001269852] |
Chr8:60853480 [GRCh38]
Chr8:61766039 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8276A>G (p.Gln2759Arg) |
single nucleotide variant |
Childhood onset hearing loss [RCV001328032] |
Chr8:60865215 [GRCh38]
Chr8:61777774 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1938del (p.Arg646fs) |
deletion |
not provided [RCV001812927] |
Chr8:60781271 [GRCh38]
Chr8:61693830 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3065_3066dup (p.Ala1023fs) |
duplication |
Inborn genetic diseases [RCV001267459] |
Chr8:60822609..60822610 [GRCh38]
Chr8:61735168..61735169 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7764del (p.Asn2588fs) |
deletion |
Inborn genetic diseases [RCV001267496] |
Chr8:60861059 [GRCh38]
Chr8:61773618 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7971+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV001265953] |
Chr8:60862337 [GRCh38]
Chr8:61774896 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.4218C>A (p.Ser1406Arg) |
single nucleotide variant |
CHARGE association [RCV001267753] |
Chr8:60837700 [GRCh38]
Chr8:61750259 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3221_3222insA (p.Tyr1075fs) |
insertion |
Inborn genetic diseases [RCV001265846] |
Chr8:60823859..60823860 [GRCh38]
Chr8:61736418..61736419 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.557_558dup (p.Gln187fs) |
duplication |
CHARGE association [RCV001261226] |
Chr8:60741988..60741989 [GRCh38]
Chr8:61654547..61654548 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6476C>A (p.Ser2159Tyr) |
single nucleotide variant |
Pituitary stalk interruption syndrome [RCV001257300] |
Chr8:60853201 [GRCh38]
Chr8:61765760 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1677G>A (p.Ser559=) |
single nucleotide variant |
CHARGE association [RCV001306948]|CHARGE association [RCV002476409] |
Chr8:60781011 [GRCh38]
Chr8:61693570 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln) |
single nucleotide variant |
CHARGE association [RCV001350494]|CHARGE association [RCV002493802]|not provided [RCV003320827] |
Chr8:60821851 [GRCh38]
Chr8:61734410 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser) |
single nucleotide variant |
CHARGE association [RCV001329011] |
Chr8:60856536 [GRCh38]
Chr8:61769095 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4859G>A (p.Arg1620Gln) |
single nucleotide variant |
CHARGE association [RCV001341572] |
Chr8:60844872 [GRCh38]
Chr8:61757431 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3616del (p.Ile1206fs) |
deletion |
CHARGE association [RCV001281079] |
Chr8:60830415 [GRCh38]
Chr8:61742974 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1554G>T (p.Gln518His) |
single nucleotide variant |
CHARGE association [RCV001322918]|not provided [RCV001558538] |
Chr8:60742986 [GRCh38]
Chr8:61655545 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.685A>G (p.Thr229Ala) |
single nucleotide variant |
CHARGE association [RCV001301085] |
Chr8:60742117 [GRCh38]
Chr8:61654676 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1141A>G (p.Met381Val) |
single nucleotide variant |
CHARGE association [RCV001327340] |
Chr8:60742573 [GRCh38]
Chr8:61655132 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2991G>C (p.Leu997Phe) |
single nucleotide variant |
CHARGE association [RCV001348971] |
Chr8:60822536 [GRCh38]
Chr8:61735095 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3237_3238insTAC (p.Ala1079_Ile1080insTyr) |
insertion |
CHARGE association [RCV001299036] |
Chr8:60823874..60823875 [GRCh38]
Chr8:61736433..61736434 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5666G>A (p.Gly1889Asp) |
single nucleotide variant |
CHARGE association [RCV001316863] |
Chr8:60852019 [GRCh38]
Chr8:61764578 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) |
single nucleotide variant |
CHARGE association [RCV001303036]|CHARGE association [RCV002504456]|Inborn genetic diseases [RCV002402845] |
Chr8:60860976 [GRCh38]
Chr8:61773535 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2233G>A (p.Val745Ile) |
single nucleotide variant |
CHARGE association [RCV001321427] |
Chr8:60795122 [GRCh38]
Chr8:61707681 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3036G>C (p.Leu1012Phe) |
single nucleotide variant |
CHARGE association [RCV001312690] |
Chr8:60822581 [GRCh38]
Chr8:61735140 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln) |
single nucleotide variant |
CHARGE association [RCV001313405]|CHARGE association [RCV002493638]|Hearing impairment [RCV001375235]|Inborn genetic diseases [RCV002366161] |
Chr8:60853018 [GRCh38]
Chr8:61765577 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) |
single nucleotide variant |
CHARGE association [RCV001329010]|Neurodevelopmental disorder [RCV001375030]|not provided [RCV001538538] |
Chr8:60852918 [GRCh38]
Chr8:61765477 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.6358C>G (p.Pro2120Ala) |
single nucleotide variant |
CHARGE association [RCV001309993] |
Chr8:60853083 [GRCh38]
Chr8:61765642 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8562C>G (p.Asn2854Lys) |
single nucleotide variant |
CHARGE association [RCV001295602] |
Chr8:60865501 [GRCh38]
Chr8:61778060 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NC_000008.10:g.(?_61653972)_(61655676_?)dup |
duplication |
CHARGE association [RCV001309460] |
Chr8:61653972..61655676 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1835G>A (p.Ser612Asn) |
single nucleotide variant |
CHARGE association [RCV001343947] |
Chr8:60781169 [GRCh38]
Chr8:61693728 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4994G>A (p.Trp1665Ter) |
single nucleotide variant |
Scoliosis, isolated, susceptibility to, 3 [RCV001334947] |
Chr8:60845007 [GRCh38]
Chr8:61757566 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6514G>T (p.Glu2172Ter) |
single nucleotide variant |
not provided [RCV001539007] |
Chr8:60853239 [GRCh38]
Chr8:61765798 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1395C>T (p.Ser465=) |
single nucleotide variant |
CHARGE association [RCV001396557] |
Chr8:60742827 [GRCh38]
Chr8:61655386 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.247A>G (p.Met83Val) |
single nucleotide variant |
CHARGE association [RCV001329003] |
Chr8:60741679 [GRCh38]
Chr8:61654238 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8286G>T (p.Gln2762His) |
single nucleotide variant |
CHARGE association [RCV001361543] |
Chr8:60865225 [GRCh38]
Chr8:61777784 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6153C>T (p.Ala2051=) |
single nucleotide variant |
CHARGE association [RCV001433426] |
Chr8:60852878 [GRCh38]
Chr8:61765437 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4056C>T (p.Phe1352=) |
single nucleotide variant |
CHARGE association [RCV001394963] |
Chr8:60836883 [GRCh38]
Chr8:61749442 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5382C>T (p.Leu1794=) |
single nucleotide variant |
CHARGE association [RCV001433173]|CHD7-related condition [RCV003965825] |
Chr8:60849132 [GRCh38]
Chr8:61761691 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.661A>G (p.Asn221Asp) |
single nucleotide variant |
CHARGE association [RCV001369073]|not provided [RCV003145634] |
Chr8:60742093 [GRCh38]
Chr8:61654652 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5401C>T (p.His1801Tyr) |
single nucleotide variant |
CHARGE association [RCV001368222] |
Chr8:60849151 [GRCh38]
Chr8:61761710 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5200C>T (p.His1734Tyr) |
single nucleotide variant |
CHARGE association [RCV001368765] |
Chr8:60845399 [GRCh38]
Chr8:61757958 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4839G>C (p.Leu1613=) |
single nucleotide variant |
CHARGE association [RCV001414830]|not provided [RCV001664867]|not specified [RCV001820112] |
Chr8:60842041 [GRCh38]
Chr8:61754600 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1126A>G (p.Met376Val) |
single nucleotide variant |
CHARGE association [RCV001362430] |
Chr8:60742558 [GRCh38]
Chr8:61655117 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8752C>T (p.Leu2918=) |
single nucleotide variant |
CHARGE association [RCV001415196] |
Chr8:60865691 [GRCh38]
Chr8:61778250 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8842A>G (p.Lys2948Glu) |
single nucleotide variant |
CHARGE association [RCV001305798] |
Chr8:60865781 [GRCh38]
Chr8:61778340 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1813C>G (p.His605Asp) |
single nucleotide variant |
CHARGE association [RCV001315022]|not provided [RCV001528808] |
Chr8:60781147 [GRCh38]
Chr8:61693706 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2183A>G (p.Asp728Gly) |
single nucleotide variant |
CHARGE association [RCV001369974] |
Chr8:60795072 [GRCh38]
Chr8:61707631 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3711C>T (p.Asn1237=) |
single nucleotide variant |
CHARGE association [RCV001415255] |
Chr8:60830510 [GRCh38]
Chr8:61743069 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3696C>T (p.Gly1232=) |
single nucleotide variant |
CHARGE association [RCV001360158] |
Chr8:60830495 [GRCh38]
Chr8:61743054 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4360C>T (p.Gln1454Ter) |
single nucleotide variant |
CHARGE association [RCV001382757] |
Chr8:60838082 [GRCh38]
Chr8:61750641 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7710del (p.Val2571fs) |
deletion |
CHARGE association [RCV001382918] |
Chr8:60861005 [GRCh38]
Chr8:61773564 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.262A>G (p.Arg88Gly) |
single nucleotide variant |
CHARGE association [RCV001370677]|not provided [RCV003314005] |
Chr8:60741694 [GRCh38]
Chr8:61654253 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1862C>A (p.Pro621His) |
single nucleotide variant |
CHARGE association [RCV001312303] |
Chr8:60781196 [GRCh38]
Chr8:61693755 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5575C>T (p.Pro1859Ser) |
single nucleotide variant |
not provided [RCV001358054] |
Chr8:60851072 [GRCh38]
Chr8:61763631 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5049C>T (p.Ser1683=) |
single nucleotide variant |
CHARGE association [RCV001362585]|CHARGE association [RCV002493850]|CHD7-related condition [RCV003898344] |
Chr8:60845062 [GRCh38]
Chr8:61757621 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6461C>T (p.Pro2154Leu) |
single nucleotide variant |
CHARGE association [RCV001303851] |
Chr8:60853186 [GRCh38]
Chr8:61765745 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4328G>A (p.Ser1443Asn) |
single nucleotide variant |
CHARGE association [RCV001360705] |
Chr8:60837810 [GRCh38]
Chr8:61750369 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser) |
single nucleotide variant |
CHARGE association [RCV001362648]|CHARGE association [RCV002499734] |
Chr8:60860973 [GRCh38]
Chr8:61773532 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.512A>G (p.Gln171Arg) |
single nucleotide variant |
CHARGE association [RCV001362722]|CHARGE association [RCV002504593]|not provided [RCV003128782] |
Chr8:60741944 [GRCh38]
Chr8:61654503 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.519del (p.Pro174fs) |
deletion |
CHARGE association [RCV002279736]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001334948] |
Chr8:60741951 [GRCh38]
Chr8:61654510 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1069A>G (p.Ser357Gly) |
single nucleotide variant |
CHARGE association [RCV001362153] |
Chr8:60742501 [GRCh38]
Chr8:61655060 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5066T>C (p.Val1689Ala) |
single nucleotide variant |
CHARGE association [RCV001361030]|not provided [RCV001773717] |
Chr8:60845265 [GRCh38]
Chr8:61757824 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.982A>T (p.Met328Leu) |
single nucleotide variant |
CHARGE association [RCV001371961] |
Chr8:60742414 [GRCh38]
Chr8:61654973 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2498+70dup |
duplication |
not provided [RCV001581637] |
Chr8:60808333..60808334 [GRCh38]
Chr8:61720892..61720893 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2345C>G (p.Ser782Cys) |
single nucleotide variant |
CHARGE association [RCV001343436] |
Chr8:60800494 [GRCh38]
Chr8:61713053 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3776A>G (p.Asn1259Ser) |
single nucleotide variant |
CHARGE association [RCV001295837] |
Chr8:60830575 [GRCh38]
Chr8:61743134 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3044T>C (p.Ile1015Thr) |
single nucleotide variant |
CHARGE association [RCV001322810] |
Chr8:60822589 [GRCh38]
Chr8:61735148 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5114C>G (p.Pro1705Arg) |
single nucleotide variant |
CHARGE association [RCV001371099] |
Chr8:60845313 [GRCh38]
Chr8:61757872 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3522+1G>A |
single nucleotide variant |
CHARGE association [RCV001293772] |
Chr8:60828807 [GRCh38]
Chr8:61741366 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8479A>C (p.Thr2827Pro) |
single nucleotide variant |
CHARGE association [RCV001306531]|CHARGE association [RCV002486198] |
Chr8:60865418 [GRCh38]
Chr8:61777977 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8538_8549dup (p.Lys2846_Glu2849dup) |
duplication |
CHARGE association [RCV001360609] |
Chr8:60865471..60865472 [GRCh38]
Chr8:61778030..61778031 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5393T>A (p.Val1798Glu) |
single nucleotide variant |
CHARGE association [RCV001320285] |
Chr8:60849143 [GRCh38]
Chr8:61761702 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.778C>T (p.Pro260Ser) |
single nucleotide variant |
CHARGE association [RCV001343845]|Inborn genetic diseases [RCV002547427] |
Chr8:60742210 [GRCh38]
Chr8:61654769 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3202-3T>C |
single nucleotide variant |
CHARGE association [RCV001321921]|CHARGE association [RCV002486284] |
Chr8:60823837 [GRCh38]
Chr8:61736396 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4802A>T (p.Tyr1601Phe) |
single nucleotide variant |
CHARGE association [RCV001362977] |
Chr8:60842004 [GRCh38]
Chr8:61754563 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3547A>C (p.Lys1183Gln) |
single nucleotide variant |
CHD7-related disorders [RCV001270897] |
Chr8:60830346 [GRCh38]
Chr8:61742905 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.631A>C (p.Ser211Arg) |
single nucleotide variant |
CHARGE association [RCV001342434] |
Chr8:60742063 [GRCh38]
Chr8:61654622 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6758A>G (p.Glu2253Gly) |
single nucleotide variant |
CHARGE association [RCV001322012] |
Chr8:60853483 [GRCh38]
Chr8:61766042 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.817C>T (p.Pro273Ser) |
single nucleotide variant |
CHARGE association [RCV001323189] |
Chr8:60742249 [GRCh38]
Chr8:61654808 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5533G>C (p.Gly1845Arg) |
single nucleotide variant |
CHARGE association [RCV001298306] |
Chr8:60850621 [GRCh38]
Chr8:61763180 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.878G>A (p.Ser293Asn) |
single nucleotide variant |
CHARGE association [RCV001346210] |
Chr8:60742310 [GRCh38]
Chr8:61654869 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7328A>G (p.Asp2443Gly) |
single nucleotide variant |
CHARGE association [RCV001363397]|not provided [RCV001762626] |
Chr8:60856608 [GRCh38]
Chr8:61769167 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2499-20A>G |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001329004] |
Chr8:60816367 [GRCh38]
Chr8:61728926 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys) |
single nucleotide variant |
CHARGE association [RCV002546298]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001329005] |
Chr8:60842049 [GRCh38]
Chr8:61754608 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala) |
single nucleotide variant |
CHARGE association [RCV001329007] |
Chr8:60852551 [GRCh38]
Chr8:61765110 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5C>A (p.Ala2Glu) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001329009] |
Chr8:60741437 [GRCh38]
Chr8:61653996 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4850G>A (p.Gly1617Asp) |
single nucleotide variant |
CHARGE association [RCV001302252] |
Chr8:60842052 [GRCh38]
Chr8:61754611 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.565A>T (p.Met189Leu) |
single nucleotide variant |
CHARGE association [RCV001369988] |
Chr8:60741997 [GRCh38]
Chr8:61654556 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1221C>T (p.Gly407=) |
single nucleotide variant |
CHARGE association [RCV001322438] |
Chr8:60742653 [GRCh38]
Chr8:61655212 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3502G>A (p.Asp1168Asn) |
single nucleotide variant |
CHARGE association [RCV001359614] |
Chr8:60828786 [GRCh38]
Chr8:61741345 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8126T>C (p.Val2709Ala) |
single nucleotide variant |
CHARGE association [RCV001341421] |
Chr8:60865065 [GRCh38]
Chr8:61777624 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2527A>G (p.Ile843Val) |
single nucleotide variant |
CHARGE association [RCV001319511]|CHARGE association [RCV001535698] |
Chr8:60816415 [GRCh38]
Chr8:61728974 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance|not provided |
| NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly) |
single nucleotide variant |
CHARGE association [RCV001321147] |
Chr8:60841871 [GRCh38]
Chr8:61754430 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.8595G>A (p.Ser2865=) |
single nucleotide variant |
CHARGE association [RCV001373313]|Inborn genetic diseases [RCV002447493] |
Chr8:60865534 [GRCh38]
Chr8:61778093 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.278C>A (p.Thr93Asn) |
single nucleotide variant |
CHARGE association [RCV001362480] |
Chr8:60741710 [GRCh38]
Chr8:61654269 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8131G>C (p.Gly2711Arg) |
single nucleotide variant |
CHARGE association [RCV001337497] |
Chr8:60865070 [GRCh38]
Chr8:61777629 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5051-4C>G |
single nucleotide variant |
CHARGE association [RCV001295857] |
Chr8:60845246 [GRCh38]
Chr8:61757805 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2063C>T (p.Ala688Val) |
single nucleotide variant |
CHARGE association [RCV001358865] |
Chr8:60781397 [GRCh38]
Chr8:61693956 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5092G>T (p.Val1698Leu) |
single nucleotide variant |
CHARGE association [RCV001350369] |
Chr8:60845291 [GRCh38]
Chr8:61757850 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6085C>A (p.Pro2029Thr) |
single nucleotide variant |
CHARGE association [RCV001337647] |
Chr8:60852688 [GRCh38]
Chr8:61765247 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2426G>C (p.Arg809Pro) |
single nucleotide variant |
CHARGE association [RCV001299496] |
Chr8:60801577 [GRCh38]
Chr8:61714136 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1808_1811del (p.Asn603fs) |
deletion |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV001813821]|not provided [RCV001812436] |
Chr8:60781140..60781143 [GRCh38]
Chr8:61693699..61693702 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met) |
single nucleotide variant |
CHARGE association [RCV001469662]|not provided [RCV001358318] |
Chr8:60853060 [GRCh38]
Chr8:61765619 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2956A>G (p.Met986Val) |
single nucleotide variant |
CHARGE association [RCV001371338] |
Chr8:60822144 [GRCh38]
Chr8:61734703 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1914A>G (p.Gln638=) |
single nucleotide variant |
CHARGE association [RCV001371449] |
Chr8:60781248 [GRCh38]
Chr8:61693807 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.705G>A (p.Leu235=) |
single nucleotide variant |
CHARGE association [RCV001413959]|not provided [RCV001571817] |
Chr8:60742137 [GRCh38]
Chr8:61654696 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.830dup (p.Asn278fs) |
duplication |
not provided [RCV001269895] |
Chr8:60742258..60742259 [GRCh38]
Chr8:61654817..61654818 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4353+4A>C |
single nucleotide variant |
CHARGE association [RCV001337199] |
Chr8:60837839 [GRCh38]
Chr8:61750398 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.709del (p.His237fs) |
deletion |
CHARGE association [RCV001268944] |
Chr8:60742139 [GRCh38]
Chr8:61654698 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) |
single nucleotide variant |
CHARGE association [RCV001352688]|CHD7-related condition [RCV003416254]|not provided [RCV001675988] |
Chr8:60852919 [GRCh38]
Chr8:61765478 [GRCh37]
Chr8:8q12.2 |
pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.1626A>G (p.Pro542=) |
single nucleotide variant |
CHARGE association [RCV001413433]|CHARGE association [RCV002504690] |
Chr8:60743058 [GRCh38]
Chr8:61655617 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7183T>C (p.Ser2395Pro) |
single nucleotide variant |
CHARGE association [RCV001371766] |
Chr8:60856463 [GRCh38]
Chr8:61769022 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr) |
single nucleotide variant |
CHARGE association [RCV003603093]|Hearing impairment [RCV001375415] |
Chr8:60865362 [GRCh38]
Chr8:61777921 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr) |
single nucleotide variant |
CHARGE association [RCV001296463]|not provided [RCV001546450] |
Chr8:60742756 [GRCh38]
Chr8:61655315 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8803G>A (p.Glu2935Lys) |
single nucleotide variant |
CHARGE association [RCV001317013] |
Chr8:60865742 [GRCh38]
Chr8:61778301 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8776G>A (p.Gly2926Arg) |
single nucleotide variant |
CHARGE association [RCV001349862]|Inborn genetic diseases [RCV003263993] |
Chr8:60865715 [GRCh38]
Chr8:61778274 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3005A>T (p.Gln1002Leu) |
single nucleotide variant |
CHARGE association [RCV001298631] |
Chr8:60822550 [GRCh38]
Chr8:61735109 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.481_482delinsAG (p.Gln161Arg) |
indel |
CHARGE association [RCV001359489] |
Chr8:60741913..60741914 [GRCh38]
Chr8:61654472..61654473 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6231G>A (p.Arg2077=) |
single nucleotide variant |
CHARGE association [RCV001395274] |
Chr8:60852956 [GRCh38]
Chr8:61765515 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3523-3T>C |
single nucleotide variant |
CHARGE association [RCV001359718] |
Chr8:60830319 [GRCh38]
Chr8:61742878 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2283A>G (p.Glu761=) |
single nucleotide variant |
CHARGE association [RCV001494465] |
Chr8:60800432 [GRCh38]
Chr8:61712991 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6138C>T (p.Ile2046=) |
single nucleotide variant |
CHARGE association [RCV001496109] |
Chr8:60852863 [GRCh38]
Chr8:61765422 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5811T>C (p.Thr1937=) |
single nucleotide variant |
CHARGE association [RCV001505960] |
Chr8:60852164 [GRCh38]
Chr8:61764723 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6480T>G (p.Ala2160=) |
single nucleotide variant |
CHARGE association [RCV001492551]|not provided [RCV001587434] |
Chr8:60853205 [GRCh38]
Chr8:61765764 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3072A>G (p.Pro1024=) |
single nucleotide variant |
CHARGE association [RCV001476145] |
Chr8:60822617 [GRCh38]
Chr8:61735176 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2707_2710del (p.His903fs) |
deletion |
CHARGE association [RCV001385684] |
Chr8:60821796..60821799 [GRCh38]
Chr8:61734355..61734358 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2957+2T>C |
single nucleotide variant |
CHARGE association [RCV001385686] |
Chr8:60822147 [GRCh38]
Chr8:61734706 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2643T>C (p.Tyr881=) |
single nucleotide variant |
CHARGE association [RCV001471562]|CHARGE association [RCV002488275] |
Chr8:60820036 [GRCh38]
Chr8:61732595 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4392A>G (p.Leu1464=) |
single nucleotide variant |
CHARGE association [RCV001452477] |
Chr8:60838114 [GRCh38]
Chr8:61750673 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2307T>C (p.Asp769=) |
single nucleotide variant |
CHARGE association [RCV001428667] |
Chr8:60800456 [GRCh38]
Chr8:61713015 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6624G>A (p.Glu2208=) |
single nucleotide variant |
CHARGE association [RCV001480700] |
Chr8:60853349 [GRCh38]
Chr8:61765908 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2523A>G (p.Ala841=) |
single nucleotide variant |
CHARGE association [RCV001397906]|CHD7-related condition [RCV003908568] |
Chr8:60816411 [GRCh38]
Chr8:61728970 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1725A>G (p.Gly575=) |
single nucleotide variant |
CHARGE association [RCV001403537] |
Chr8:60781059 [GRCh38]
Chr8:61693618 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7119C>T (p.Ser2373=) |
single nucleotide variant |
CHARGE association [RCV001466140]|CHARGE association [RCV002495679]|Inborn genetic diseases [RCV002368430]|not provided [RCV001552652] |
Chr8:60856157 [GRCh38]
Chr8:61768716 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8859T>C (p.Leu2953=) |
single nucleotide variant |
CHARGE association [RCV001434463]|Inborn genetic diseases [RCV002377700] |
Chr8:60865798 [GRCh38]
Chr8:61778357 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6771C>A (p.Pro2257=) |
single nucleotide variant |
CHARGE association [RCV001463420] |
Chr8:60853496 [GRCh38]
Chr8:61766055 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3778+10C>T |
single nucleotide variant |
CHARGE association [RCV001484629] |
Chr8:60830587 [GRCh38]
Chr8:61743146 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG |
insertion |
CHARGE association [RCV001416031] |
Chr8:60842059..60842060 [GRCh38]
Chr8:61754618..61754619 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.306C>T (p.His102=) |
single nucleotide variant |
CHARGE association [RCV001463469] |
Chr8:60741738 [GRCh38]
Chr8:61654297 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4014C>T (p.Gly1338=) |
single nucleotide variant |
CHARGE association [RCV001501682]|CHARGE association [RCV002495766] |
Chr8:60836841 [GRCh38]
Chr8:61749400 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7863G>A (p.Gln2621=) |
single nucleotide variant |
CHARGE association [RCV001485043]|CHARGE association [RCV002495722]|CHD7-related condition [RCV003900674]|not provided [RCV001541042] |
Chr8:60862228 [GRCh38]
Chr8:61774787 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.549T>C (p.Pro183=) |
single nucleotide variant |
CHARGE association [RCV001488361] |
Chr8:60741981 [GRCh38]
Chr8:61654540 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7684C>T (p.Gln2562Ter) |
single nucleotide variant |
CHARGE association [RCV001381986] |
Chr8:60860979 [GRCh38]
Chr8:61773538 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7052C>T (p.Pro2351Leu) |
single nucleotide variant |
CHARGE association [RCV001506559] |
Chr8:60856090 [GRCh38]
Chr8:61768649 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7962T>C (p.Asn2654=) |
single nucleotide variant |
CHARGE association [RCV001488840] |
Chr8:60862327 [GRCh38]
Chr8:61774886 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4906G>T (p.Glu1636Ter) |
single nucleotide variant |
CHARGE association [RCV001389096] |
Chr8:60844919 [GRCh38]
Chr8:61757478 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8739G>C (p.Leu2913=) |
single nucleotide variant |
CHARGE association [RCV001460351] |
Chr8:60865678 [GRCh38]
Chr8:61778237 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA (p.Lys662fs) |
insertion |
CHARGE association [RCV001380303] |
Chr8:60781302..60781303 [GRCh38]
Chr8:61693861..61693862 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5210+1G>A |
single nucleotide variant |
CHARGE association [RCV002250933] |
Chr8:60845410 [GRCh38]
Chr8:61757969 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8805A>G (p.Glu2935=) |
single nucleotide variant |
CHARGE association [RCV001424979] |
Chr8:60865744 [GRCh38]
Chr8:61778303 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3778+17C>T |
single nucleotide variant |
CHARGE association [RCV002070422]|CHARGE association [RCV002501947]|not provided [RCV001581981]|not specified [RCV001700793] |
Chr8:60830594 [GRCh38]
Chr8:61743153 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.4002A>G (p.Glu1334=) |
single nucleotide variant |
CHARGE association [RCV001430132] |
Chr8:60836829 [GRCh38]
Chr8:61749388 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1050T>C (p.Ala350=) |
single nucleotide variant |
CHARGE association [RCV001404535] |
Chr8:60742482 [GRCh38]
Chr8:61655041 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1704G>A (p.Pro568=) |
single nucleotide variant |
CHARGE association [RCV001437432]|CHARGE association [RCV002488248] |
Chr8:60781038 [GRCh38]
Chr8:61693597 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4860G>C (p.Arg1620=) |
single nucleotide variant |
CHARGE association [RCV001443877]|CHD7-related condition [RCV003900524] |
Chr8:60844873 [GRCh38]
Chr8:61757432 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4850+9G>T |
single nucleotide variant |
CHARGE association [RCV001446877] |
Chr8:60842061 [GRCh38]
Chr8:61754620 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2195del (p.Pro732fs) |
deletion |
CHARGE association [RCV001380503] |
Chr8:60795080 [GRCh38]
Chr8:61707639 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5160C>T (p.Ala1720=) |
single nucleotide variant |
CHARGE association [RCV001439821]|CHD7-related condition [RCV003938771] |
Chr8:60845359 [GRCh38]
Chr8:61757918 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4194T>C (p.Ala1398=) |
single nucleotide variant |
CHARGE association [RCV001446680] |
Chr8:60837676 [GRCh38]
Chr8:61750235 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8378C>G (p.Ala2793Gly) |
single nucleotide variant |
CHARGE association [RCV001444311]|Inborn genetic diseases [RCV002439048]|not provided [RCV001561158]|not specified [RCV003490252] |
Chr8:60865317 [GRCh38]
Chr8:61777876 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.309G>C (p.Ser103=) |
single nucleotide variant |
CHARGE association [RCV001449438] |
Chr8:60741741 [GRCh38]
Chr8:61654300 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6641_6642del (p.Val2214fs) |
microsatellite |
CHARGE association [RCV001380896] |
Chr8:60853364..60853365 [GRCh38]
Chr8:61765923..61765924 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5520A>G (p.Ala1840=) |
single nucleotide variant |
CHARGE association [RCV001447376] |
Chr8:60850608 [GRCh38]
Chr8:61763167 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4850+18C>T |
single nucleotide variant |
CHARGE association [RCV001419241]|CHARGE association [RCV002476745] |
Chr8:60842070 [GRCh38]
Chr8:61754629 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5404+10G>A |
single nucleotide variant |
CHARGE association [RCV001401467] |
Chr8:60849164 [GRCh38]
Chr8:61761723 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7160C>G (p.Ser2387Ter) |
single nucleotide variant |
CHARGE association [RCV001381748] |
Chr8:60856198 [GRCh38]
Chr8:61768757 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4281G>A (p.Lys1427=) |
single nucleotide variant |
CHARGE association [RCV001423761] |
Chr8:60837763 [GRCh38]
Chr8:61750322 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2613G>T (p.Glu871Asp) |
single nucleotide variant |
CHARGE association [RCV001376003] |
Chr8:60816501 [GRCh38]
Chr8:61729060 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5925C>T (p.Tyr1975=) |
single nucleotide variant |
CHARGE association [RCV001437936] |
Chr8:60852528 [GRCh38]
Chr8:61765087 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8292C>G (p.Leu2764=) |
single nucleotide variant |
CHARGE association [RCV001428255] |
Chr8:60865231 [GRCh38]
Chr8:61777790 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8418G>C (p.Leu2806=) |
single nucleotide variant |
CHARGE association [RCV001406035] |
Chr8:60865357 [GRCh38]
Chr8:61777916 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.690A>G (p.Ser230=) |
single nucleotide variant |
CHARGE association [RCV001429525] |
Chr8:60742122 [GRCh38]
Chr8:61654681 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys) |
single nucleotide variant |
CHARGE association [RCV001377360]|Inborn genetic diseases [RCV002357282] |
Chr8:60852998 [GRCh38]
Chr8:61765557 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.4888del (p.Tyr1630fs) |
deletion |
CHARGE association [RCV001391012] |
Chr8:60844901 [GRCh38]
Chr8:61757460 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3294A>C (p.Pro1098=) |
single nucleotide variant |
CHARGE association [RCV001429536]|CHD7-related condition [RCV003953793]|not provided [RCV001615162] |
Chr8:60823932 [GRCh38]
Chr8:61736491 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1953dup (p.Asp652fs) |
duplication |
CHARGE association [RCV001381842]|CHD7-related condition [RCV003898363] |
Chr8:60781280..60781281 [GRCh38]
Chr8:61693839..61693840 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3695_3710dup (p.Asn1237delinsLysArgTrpSerSerTer) |
duplication |
CHARGE association [RCV001381943] |
Chr8:60830493..60830494 [GRCh38]
Chr8:61743052..61743053 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) |
single nucleotide variant |
CHARGE association [RCV001448252]|CHARGE association [RCV002495632]|not provided [RCV001779219] |
Chr8:60841855 [GRCh38]
Chr8:61754414 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6956G>A (p.Arg2319His) |
single nucleotide variant |
CHARGE association [RCV002032554]|not provided [RCV001545654] |
Chr8:60855994 [GRCh38]
Chr8:61768553 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.1871del (p.Val624fs) |
deletion |
CHARGE association [RCV001384336] |
Chr8:60781205 [GRCh38]
Chr8:61693764 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3291T>C (p.Ile1097=) |
single nucleotide variant |
CHARGE association [RCV001424421] |
Chr8:60823929 [GRCh38]
Chr8:61736488 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6730_6733dup (p.Leu2245fs) |
duplication |
CHARGE association [RCV001380224] |
Chr8:60853454..60853455 [GRCh38]
Chr8:61766013..61766014 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3377dup (p.Leu1126fs) |
duplication |
not provided [RCV001507733] |
Chr8:60824013..60824014 [GRCh38]
Chr8:61736572..61736573 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5607+7A>G |
single nucleotide variant |
CHARGE association [RCV001464508] |
Chr8:60851111 [GRCh38]
Chr8:61763670 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7971+8C>T |
single nucleotide variant |
CHARGE association [RCV001481818]|not provided [RCV003434267] |
Chr8:60862344 [GRCh38]
Chr8:61774903 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4404C>T (p.Ala1468=) |
single nucleotide variant |
CHARGE association [RCV001473004] |
Chr8:60838126 [GRCh38]
Chr8:61750685 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2698-146AT[3] |
microsatellite |
not provided [RCV001694766] |
Chr8:60821644..60821645 [GRCh38]
Chr8:61734203..61734204 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4354-104A>G |
single nucleotide variant |
not provided [RCV001670677] |
Chr8:60837972 [GRCh38]
Chr8:61750531 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5894+102C>G |
single nucleotide variant |
not provided [RCV001666651] |
Chr8:60852349 [GRCh38]
Chr8:61764908 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2498+70T>A |
single nucleotide variant |
not provided [RCV001650802] |
Chr8:60808342 [GRCh38]
Chr8:61720901 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1539C>T (p.Thr513=) |
single nucleotide variant |
CHARGE association [RCV001483081] |
Chr8:60742971 [GRCh38]
Chr8:61655530 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8481C>T (p.Thr2827=) |
single nucleotide variant |
CHARGE association [RCV001458746] |
Chr8:60865420 [GRCh38]
Chr8:61777979 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8076+147C>A |
single nucleotide variant |
not provided [RCV001669820] |
Chr8:60862799 [GRCh38]
Chr8:61775358 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.762G>A (p.Gln254=) |
single nucleotide variant |
CHARGE association [RCV001469834] |
Chr8:60742194 [GRCh38]
Chr8:61654753 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5210+20A>G |
single nucleotide variant |
CHARGE association [RCV001497055] |
Chr8:60845429 [GRCh38]
Chr8:61757988 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8751G>C (p.Thr2917=) |
single nucleotide variant |
CHARGE association [RCV001455511] |
Chr8:60865690 [GRCh38]
Chr8:61778249 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2499-291TGTC[6] |
microsatellite |
not provided [RCV001694221] |
Chr8:60816095..60816096 [GRCh38]
Chr8:61728654..61728655 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6776-237G>C |
single nucleotide variant |
not provided [RCV001616023] |
Chr8:60854126 [GRCh38]
Chr8:61766685 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8553A>G (p.Glu2851=) |
single nucleotide variant |
CHARGE association [RCV001500343] |
Chr8:60865492 [GRCh38]
Chr8:61778051 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7650G>A (p.Glu2550=) |
single nucleotide variant |
CHARGE association [RCV001463350] |
Chr8:60860945 [GRCh38]
Chr8:61773504 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2613+93T>C |
single nucleotide variant |
not provided [RCV001673872] |
Chr8:60816594 [GRCh38]
Chr8:61729153 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2239-109G>A |
single nucleotide variant |
not provided [RCV001665579] |
Chr8:60800279 [GRCh38]
Chr8:61712838 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1424T>C (p.Met475Thr) |
single nucleotide variant |
CHARGE association [RCV001866185]|Inborn genetic diseases [RCV002388615]|not provided [RCV001585298] |
Chr8:60742856 [GRCh38]
Chr8:61655415 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.2614-161A>C |
single nucleotide variant |
not provided [RCV001618855] |
Chr8:60819846 [GRCh38]
Chr8:61732405 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.813C>T (p.His271=) |
single nucleotide variant |
CHARGE association [RCV001456343] |
Chr8:60742245 [GRCh38]
Chr8:61654804 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2839C>A (p.Arg947=) |
single nucleotide variant |
CHARGE association [RCV001453253]|Inborn genetic diseases [RCV002439069]|not provided [RCV002473292] |
Chr8:60822027 [GRCh38]
Chr8:61734586 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4782C>G (p.Pro1594=) |
single nucleotide variant |
CHARGE association [RCV001453278]|Inborn genetic diseases [RCV003160829] |
Chr8:60841984 [GRCh38]
Chr8:61754543 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.297G>A (p.Ala99=) |
single nucleotide variant |
CHARGE association [RCV001460832] |
Chr8:60741729 [GRCh38]
Chr8:61654288 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6104-9G>A |
single nucleotide variant |
CHARGE association [RCV001460811] |
Chr8:60852820 [GRCh38]
Chr8:61765379 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2096+21dup |
duplication |
CHARGE association [RCV002077156]|not provided [RCV001699919]|not specified [RCV001727980] |
Chr8:60781445..60781446 [GRCh38]
Chr8:61694004..61694005 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.7308T>C (p.Asn2436=) |
single nucleotide variant |
CHARGE association [RCV001498485] |
Chr8:60856588 [GRCh38]
Chr8:61769147 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7608+9G>T |
single nucleotide variant |
CHARGE association [RCV001501430] |
Chr8:60856897 [GRCh38]
Chr8:61769456 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu) |
single nucleotide variant |
CHARGE association [RCV002070409]|not provided [RCV001587677] |
Chr8:60852832 [GRCh38]
Chr8:61765391 [GRCh37]
Chr8:8q12.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_017780.4(CHD7):c.8076+163_8076+164insATCA |
insertion |
not provided [RCV001714535] |
Chr8:60862813..60862814 [GRCh38]
Chr8:61775372..61775373 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2769C>T (p.Asp923=) |
single nucleotide variant |
CHARGE association [RCV001454176] |
Chr8:60821861 [GRCh38]
Chr8:61734420 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4353+1G>A |
single nucleotide variant |
not provided [RCV001529348] |
Chr8:60837836 [GRCh38]
Chr8:61750395 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.711C>T (p.His237=) |
single nucleotide variant |
CHARGE association [RCV001437629] |
Chr8:60742143 [GRCh38]
Chr8:61654702 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1632C>G (p.Pro544=) |
single nucleotide variant |
CHARGE association [RCV001399336] |
Chr8:60743064 [GRCh38]
Chr8:61655623 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7789C>T (p.Leu2597=) |
single nucleotide variant |
CHARGE association [RCV001495776] |
Chr8:60861084 [GRCh38]
Chr8:61773643 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7023T>C (p.Asp2341=) |
single nucleotide variant |
CHARGE association [RCV001456876]|not provided [RCV001538190] |
Chr8:60856061 [GRCh38]
Chr8:61768620 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.884G>A (p.Arg295Gln) |
single nucleotide variant |
CHARGE association [RCV001470059]|Inborn genetic diseases [RCV002561307]|not provided [RCV001574364] |
Chr8:60742316 [GRCh38]
Chr8:61654875 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1936dup (p.Arg646fs) |
duplication |
CHARGE association [RCV001385014] |
Chr8:60781266..60781267 [GRCh38]
Chr8:61693825..61693826 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.516G>A (p.Pro172=) |
single nucleotide variant |
CHARGE association [RCV001442554] |
Chr8:60741948 [GRCh38]
Chr8:61654507 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7767G>A (p.Lys2589=) |
single nucleotide variant |
CHARGE association [RCV001482097] |
Chr8:60861062 [GRCh38]
Chr8:61773621 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2187A>G (p.Lys729=) |
single nucleotide variant |
CHARGE association [RCV001403532] |
Chr8:60795076 [GRCh38]
Chr8:61707635 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2625G>A (p.Glu875=) |
single nucleotide variant |
CHARGE association [RCV001406175] |
Chr8:60820018 [GRCh38]
Chr8:61732577 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8178C>T (p.Ala2726=) |
single nucleotide variant |
CHARGE association [RCV001451408] |
Chr8:60865117 [GRCh38]
Chr8:61777676 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7038C>T (p.Ile2346=) |
single nucleotide variant |
CHARGE association [RCV001480119] |
Chr8:60856076 [GRCh38]
Chr8:61768635 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7416A>G (p.Thr2472=) |
single nucleotide variant |
CHARGE association [RCV001469428] |
Chr8:60856696 [GRCh38]
Chr8:61769255 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5405-8C>T |
single nucleotide variant |
CHARGE association [RCV001470942]|CHD7-related condition [RCV003965942]|not provided [RCV001552781] |
Chr8:60850485 [GRCh38]
Chr8:61763044 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.168T>C (p.His56=) |
single nucleotide variant |
CHARGE association [RCV001488328] |
Chr8:60741600 [GRCh38]
Chr8:61654159 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4413A>G (p.Ala1471=) |
single nucleotide variant |
CHARGE association [RCV001451462] |
Chr8:60838135 [GRCh38]
Chr8:61750694 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8040A>G (p.Ala2680=) |
single nucleotide variant |
CHARGE association [RCV001523470]|CHD7-related condition [RCV003900775] |
Chr8:60862616 [GRCh38]
Chr8:61775175 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.7831-5T>C |
single nucleotide variant |
CHARGE association [RCV001453701] |
Chr8:60862191 [GRCh38]
Chr8:61774750 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7989G>A (p.Ala2663=) |
single nucleotide variant |
CHARGE association [RCV001401817]|CHARGE association [RCV002504669]|not provided [RCV001556995] |
Chr8:60862565 [GRCh38]
Chr8:61775124 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.843A>G (p.Gln281=) |
single nucleotide variant |
CHARGE association [RCV001453245]|Inborn genetic diseases [RCV002449217]|not provided [RCV001581137] |
Chr8:60742275 [GRCh38]
Chr8:61654834 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5895-67A>G |
single nucleotide variant |
CHARGE association [RCV001497036] |
Chr8:60852431 [GRCh38]
Chr8:61764990 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4182C>G (p.Leu1394=) |
single nucleotide variant |
CHARGE association [RCV001463272]|CHARGE association [RCV002495671] |
Chr8:60837009 [GRCh38]
Chr8:61749568 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4533+9C>T |
single nucleotide variant |
CHARGE association [RCV001397922] |
Chr8:60838264 [GRCh38]
Chr8:61750823 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6937-8C>T |
single nucleotide variant |
CHARGE association [RCV001505308]|CHD7-related condition [RCV003948480] |
Chr8:60855967 [GRCh38]
Chr8:61768526 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3378+5G>C |
single nucleotide variant |
CHARGE association [RCV001385687] |
Chr8:60824021 [GRCh38]
Chr8:61736580 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.279C>T (p.Thr93=) |
single nucleotide variant |
CHARGE association [RCV001438249] |
Chr8:60741711 [GRCh38]
Chr8:61654270 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.501G>A (p.Pro167=) |
single nucleotide variant |
CHARGE association [RCV001406841] |
Chr8:60741933 [GRCh38]
Chr8:61654492 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.102A>G (p.Val34=) |
single nucleotide variant |
CHARGE association [RCV001451971] |
Chr8:60741534 [GRCh38]
Chr8:61654093 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8208C>T (p.Ala2736=) |
single nucleotide variant |
CHARGE association [RCV001505473]|Inborn genetic diseases [RCV002424939] |
Chr8:60865147 [GRCh38]
Chr8:61777706 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7248G>A (p.Lys2416=) |
single nucleotide variant |
CHARGE association [RCV001499184]|Inborn genetic diseases [RCV002377872] |
Chr8:60856528 [GRCh38]
Chr8:61769087 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8187C>T (p.Ala2729=) |
single nucleotide variant |
CHARGE association [RCV001467914]|CHARGE association [RCV002495692]|Inborn genetic diseases [RCV002432310] |
Chr8:60865126 [GRCh38]
Chr8:61777685 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) |
microsatellite |
CHARGE association [RCV001375987]|CHD7-related condition [RCV003399192] |
Chr8:60828704..60828705 [GRCh38]
Chr8:61741263..61741264 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2196dup (p.Pro733fs) |
duplication |
CHARGE association [RCV001385683] |
Chr8:60795084..60795085 [GRCh38]
Chr8:61707643..61707644 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3394C>T (p.Leu1132=) |
single nucleotide variant |
CHARGE association [RCV001402294] |
Chr8:60828678 [GRCh38]
Chr8:61741237 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7869G>A (p.Pro2623=) |
single nucleotide variant |
CHARGE association [RCV001485449] |
Chr8:60862234 [GRCh38]
Chr8:61774793 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1977del (p.Lys660fs) |
deletion |
CHARGE association [RCV001387524] |
Chr8:60781309 [GRCh38]
Chr8:61693868 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3708T>C (p.Ala1236=) |
single nucleotide variant |
CHARGE association [RCV001494612] |
Chr8:60830507 [GRCh38]
Chr8:61743066 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8568C>T (p.Asp2856=) |
single nucleotide variant |
CHARGE association [RCV001481024]|Inborn genetic diseases [RCV002414164] |
Chr8:60865507 [GRCh38]
Chr8:61778066 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.6775+142G>A |
single nucleotide variant |
not provided [RCV001527780] |
Chr8:60853642 [GRCh38]
Chr8:61766201 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3525G>A (p.Val1175=) |
single nucleotide variant |
CHARGE association [RCV001418674] |
Chr8:60830324 [GRCh38]
Chr8:61742883 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.708C>T (p.Ser236=) |
single nucleotide variant |
CHARGE association [RCV001435593]|Inborn genetic diseases [RCV002368347] |
Chr8:60742140 [GRCh38]
Chr8:61654699 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2613+8dup |
duplication |
CHARGE association [RCV001485522] |
Chr8:60816508..60816509 [GRCh38]
Chr8:61729067..61729068 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6831C>T (p.Ser2277=) |
single nucleotide variant |
CHARGE association [RCV001485551] |
Chr8:60854418 [GRCh38]
Chr8:61766977 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8694G>A (p.Met2898Ile) |
single nucleotide variant |
CHARGE association [RCV001419173] |
Chr8:60865633 [GRCh38]
Chr8:61778192 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.-174-308G>A |
single nucleotide variant |
not provided [RCV001537067] |
Chr8:60740951 [GRCh38]
Chr8:61653510 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5493C>T (p.Ala1831=) |
single nucleotide variant |
CHARGE association [RCV001424816] |
Chr8:60850581 [GRCh38]
Chr8:61763140 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4593G>A (p.Trp1531Ter) |
single nucleotide variant |
not provided [RCV001727448] |
Chr8:60841703 [GRCh38]
Chr8:61754262 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4989C>A (p.Phe1663Leu) |
single nucleotide variant |
CHARGE association [RCV001730168] |
Chr8:60845002 [GRCh38]
Chr8:61757561 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln) |
single nucleotide variant |
CHARGE association [RCV003603101]|not provided [RCV001756456] |
Chr8:60853009 [GRCh38]
Chr8:61765568 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4688G>A (p.Arg1563Lys) |
single nucleotide variant |
CHARGE association [RCV003106835] |
Chr8:60841890 [GRCh38]
Chr8:61754449 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3478del (p.Thr1160fs) |
deletion |
CHARGE association [RCV002280215] |
Chr8:60828760 [GRCh38]
Chr8:61741319 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn) |
single nucleotide variant |
CHARGE association [RCV003101331]|not specified [RCV002247984] |
Chr8:60742904 [GRCh38]
Chr8:61655463 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3383del (p.His1128fs) |
deletion |
not provided [RCV001727447] |
Chr8:60828667 [GRCh38]
Chr8:61741226 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) |
single nucleotide variant |
CHARGE association [RCV002489773]|CHARGE association [RCV003603103]|not provided [RCV001756806] |
Chr8:60841936 [GRCh38]
Chr8:61754495 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser) |
single nucleotide variant |
CHARGE association [RCV002540353]|not provided [RCV001754752] |
Chr8:60854467 [GRCh38]
Chr8:61767026 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val) |
single nucleotide variant |
CHARGE association [RCV002538856]|not provided [RCV001754915] |
Chr8:60865896 [GRCh38]
Chr8:61778455 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5070A>C (p.Pro1690=) |
single nucleotide variant |
not provided [RCV001754921] |
Chr8:60845269 [GRCh38]
Chr8:61757828 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2968A>G (p.Ile990Val) |
single nucleotide variant |
not provided [RCV001754945] |
Chr8:60822513 [GRCh38]
Chr8:61735072 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala) |
single nucleotide variant |
CHARGE association [RCV002488583]|not provided [RCV001761208] |
Chr8:60742877 [GRCh38]
Chr8:61655436 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser) |
single nucleotide variant |
CHARGE association [RCV002272642] |
Chr8:60822535 [GRCh38]
Chr8:61735094 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1989dup (p.Glu664fs) |
duplication |
CHARGE association [RCV002272740] |
Chr8:60781317..60781318 [GRCh38]
Chr8:61693876..61693877 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1623C>A (p.His541Gln) |
single nucleotide variant |
46,XY disorder of sex development [RCV003126300] |
Chr8:60743055 [GRCh38]
Chr8:61655614 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs) |
insertion |
CHARGE association [RCV002249354] |
Chr8:60852512..60852513 [GRCh38]
Chr8:61765071..61765072 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2466A>T (p.Glu822Asp) |
single nucleotide variant |
not provided [RCV001762781] |
Chr8:60808240 [GRCh38]
Chr8:61720799 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5738T>C (p.Leu1913Pro) |
single nucleotide variant |
CHARGE association [RCV002251062] |
Chr8:60852091 [GRCh38]
Chr8:61764650 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5125G>A (p.Asp1709Asn) |
single nucleotide variant |
See cases [RCV002253145] |
Chr8:60845324 [GRCh38]
Chr8:61757883 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4120_4121dup (p.Asn1374fs) |
duplication |
not provided [RCV002508814]|not specified [RCV001733694] |
Chr8:60836946..60836947 [GRCh38]
Chr8:61749505..61749506 [GRCh37]
Chr8:8q12.2 |
pathogenic|no classifications from unflagged records |
| NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val) |
single nucleotide variant |
CHARGE association [RCV002503219]|CHARGE association [RCV003603105]|not provided [RCV001769274] |
Chr8:60852903 [GRCh38]
Chr8:61765462 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu) |
single nucleotide variant |
CHARGE association [RCV001868608]|CHARGE association [RCV002489803]|not provided [RCV001769442] |
Chr8:60841997 [GRCh38]
Chr8:61754556 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8651C>G (p.Pro2884Arg) |
single nucleotide variant |
not provided [RCV001754336] |
Chr8:60865590 [GRCh38]
Chr8:61778149 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8713C>A (p.Pro2905Thr) |
single nucleotide variant |
not provided [RCV001762810] |
Chr8:60865652 [GRCh38]
Chr8:61778211 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2097-1G>A |
single nucleotide variant |
not provided [RCV003237988] |
Chr8:60794985 [GRCh38]
Chr8:61707544 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4565A>G (p.Asp1522Gly) |
single nucleotide variant |
not provided [RCV001760929] |
Chr8:60841675 [GRCh38]
Chr8:61754234 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.547C>T (p.Pro183Ser) |
single nucleotide variant |
not provided [RCV001763384] |
Chr8:60741979 [GRCh38]
Chr8:61654538 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5747T>C (p.Leu1916Pro) |
single nucleotide variant |
not provided [RCV001770833] |
Chr8:60852100 [GRCh38]
Chr8:61764659 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7543A>G (p.Arg2515Gly) |
single nucleotide variant |
CHARGE association [RCV003771957]|not provided [RCV001770900] |
Chr8:60856823 [GRCh38]
Chr8:61769382 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val) |
single nucleotide variant |
CHARGE association [RCV002488606]|not provided [RCV001774793] |
Chr8:60822588 [GRCh38]
Chr8:61735147 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5103G>C (p.Gln1701His) |
single nucleotide variant |
not provided [RCV001771094] |
Chr8:60845302 [GRCh38]
Chr8:61757861 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2033A>G (p.Lys678Arg) |
single nucleotide variant |
not provided [RCV001771159] |
Chr8:60781367 [GRCh38]
Chr8:61693926 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1603C>T (p.Gln535Ter) |
single nucleotide variant |
CHARGE association [RCV001775409] |
Chr8:60743035 [GRCh38]
Chr8:61655594 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.504G>C (p.Gln168His) |
single nucleotide variant |
not provided [RCV001763628] |
Chr8:60741936 [GRCh38]
Chr8:61654495 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln) |
single nucleotide variant |
CHARGE association [RCV002032817]|CHARGE association [RCV002503200]|CHD7-related condition [RCV003416422]|not provided [RCV001754527] |
Chr8:60852187 [GRCh38]
Chr8:61764746 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1867G>A (p.Gly623Arg) |
single nucleotide variant |
not provided [RCV001771214] |
Chr8:60781201 [GRCh38]
Chr8:61693760 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2675G>A (p.Arg892His) |
single nucleotide variant |
CHARGE association [RCV002073980]|CHARGE association [RCV002503183]|not provided [RCV001733309] |
Chr8:60820068 [GRCh38]
Chr8:61732627 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.5677G>T (p.Glu1893Ter) |
single nucleotide variant |
not specified [RCV001733695] |
Chr8:60852030 [GRCh38]
Chr8:61764589 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4056C>A (p.Phe1352Leu) |
single nucleotide variant |
not provided [RCV001752443] |
Chr8:60836883 [GRCh38]
Chr8:61749442 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1339C>T (p.Gln447Ter) |
single nucleotide variant |
CHARGE association [RCV001733829] |
Chr8:60742771 [GRCh38]
Chr8:61655330 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.2881del (p.Glu961fs) |
deletion |
CHARGE association [RCV001733837] |
Chr8:60822067 [GRCh38]
Chr8:61734626 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp) |
single nucleotide variant |
CHARGE association [RCV003603104]|not provided [RCV001767701] |
Chr8:60852151 [GRCh38]
Chr8:61764710 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys) |
single nucleotide variant |
CHARGE association [RCV002489779]|not provided [RCV001767809] |
Chr8:60852894 [GRCh38]
Chr8:61765453 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser) |
single nucleotide variant |
CHARGE association [RCV002489799]|not provided [RCV001763872] |
Chr8:60742778 [GRCh38]
Chr8:61655337 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu) |
single nucleotide variant |
CHARGE association [RCV002477962]|not provided [RCV001767888] |
Chr8:60781041 [GRCh38]
Chr8:61693600 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4477C>T (p.Arg1493Cys) |
single nucleotide variant |
CHARGE association [RCV002544299]|not provided [RCV001786678] |
Chr8:60838199 [GRCh38]
Chr8:61750758 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5995G>C (p.Ala1999Pro) |
single nucleotide variant |
not provided [RCV001767060] |
Chr8:60852598 [GRCh38]
Chr8:61765157 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp) |
single nucleotide variant |
CHARGE association [RCV002477941]|not provided [RCV001767063] |
Chr8:60742925 [GRCh38]
Chr8:61655484 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8233C>G (p.Leu2745Val) |
single nucleotide variant |
not provided [RCV001767103] |
Chr8:60865172 [GRCh38]
Chr8:61777731 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1428G>T (p.Arg476Ser) |
single nucleotide variant |
not provided [RCV001768492] |
Chr8:60742860 [GRCh38]
Chr8:61655419 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val) |
single nucleotide variant |
not provided [RCV001774439] |
Chr8:60856740 [GRCh38]
Chr8:61769299 [GRCh37]
Chr8:8q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017780.4(CHD7):c.8295G>T (p.Gln2765His) |
single nucleotide variant |
not provided [RCV001774484] |
Chr8:60865234 [GRCh38]
Chr8:61777793 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp) |
single nucleotide variant |
CHARGE association [RCV002540556]|not provided [RCV001772983] |
Chr8:60856749 [GRCh38]
Chr8:61769308 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7274C>G (p.Ala2425Gly) |
single nucleotide variant |
not provided [RCV001751985] |
Chr8:60856554 [GRCh38]
Chr8:61769113 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg) |
single nucleotide variant |
CHARGE association [RCV002540263]|not provided [RCV001766966] |
Chr8:60822736 [GRCh38]
Chr8:61735295 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu) |
single nucleotide variant |
CHARGE association [RCV002540398]|not provided [RCV001767524] |
Chr8:60865223 [GRCh38]
Chr8:61777782 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8325C>G (p.Phe2775Leu) |
single nucleotide variant |
not provided [RCV001773162] |
Chr8:60865264 [GRCh38]
Chr8:61777823 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3523G>A (p.Val1175Met) |
single nucleotide variant |
not provided [RCV001765019] |
Chr8:60830322 [GRCh38]
Chr8:61742881 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln) |
single nucleotide variant |
CHARGE association [RCV003603102]|not provided [RCV001752296] |
Chr8:60820050 [GRCh38]
Chr8:61732609 [GRCh37]
Chr8:8q12.2 |
pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn) |
single nucleotide variant |
CHARGE association [RCV002034674]|not provided [RCV001800105] |
Chr8:60845030 [GRCh38]
Chr8:61757589 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly) |
single nucleotide variant |
CHARGE association [RCV002488590]|not provided [RCV001769059] |
Chr8:60852216 [GRCh38]
Chr8:61764775 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8674C>G (p.Pro2892Ala) |
single nucleotide variant |
not provided [RCV001767851] |
Chr8:60865613 [GRCh38]
Chr8:61778172 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3999T>G (p.Tyr1333Ter) |
single nucleotide variant |
not provided [RCV001780498] |
Chr8:60836826 [GRCh38]
Chr8:61749385 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7441C>T (p.Gln2481Ter) |
single nucleotide variant |
not provided [RCV001780499] |
Chr8:60856721 [GRCh38]
Chr8:61769280 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3591C>G (p.Asn1197Lys) |
single nucleotide variant |
not provided [RCV001765075] |
Chr8:60830390 [GRCh38]
Chr8:61742949 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.107C>G (p.Pro36Arg) |
single nucleotide variant |
not provided [RCV001752364] |
Chr8:60741539 [GRCh38]
Chr8:61654098 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7971G>T (p.Lys2657Asn) |
single nucleotide variant |
not provided [RCV001765015] |
Chr8:60862336 [GRCh38]
Chr8:61774895 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.535dup (p.Ala179fs) |
duplication |
not provided [RCV001780772] |
Chr8:60741966..60741967 [GRCh38]
Chr8:61654525..61654526 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu) |
single nucleotide variant |
CHARGE association [RCV002488540]|CHARGE association [RCV003771941]|not provided [RCV001768694] |
Chr8:60862233 [GRCh38]
Chr8:61774792 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6557A>T (p.Lys2186Ile) |
single nucleotide variant |
not provided [RCV001752783] |
Chr8:60853282 [GRCh38]
Chr8:61765841 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.908C>G (p.Thr303Ser) |
single nucleotide variant |
not provided [RCV001765573] |
Chr8:60742340 [GRCh38]
Chr8:61654899 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr) |
single nucleotide variant |
CHARGE association [RCV002032857]|CHARGE association [RCV002496095]|not provided [RCV001770838] |
Chr8:60865706 [GRCh38]
Chr8:61778265 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2726_2728dup (p.Cys909dup) |
duplication |
not provided [RCV001774512] |
Chr8:60821816..60821817 [GRCh38]
Chr8:61734375..61734376 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile) |
single nucleotide variant |
CHARGE association [RCV002290749]|not provided [RCV001766008] |
Chr8:60822088 [GRCh38]
Chr8:61734647 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6914T>A (p.Phe2305Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002370271]|not provided [RCV001754046] |
Chr8:60854501 [GRCh38]
Chr8:61767060 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1535C>T (p.Pro512Leu) |
single nucleotide variant |
not provided [RCV001761422] |
Chr8:60742967 [GRCh38]
Chr8:61655526 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.733A>G (p.Met245Val) |
single nucleotide variant |
CHARGE association [RCV003497937]|CHD7-related condition [RCV003401693]|not provided [RCV001771095] |
Chr8:60742165 [GRCh38]
Chr8:61654724 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7967del (p.Lys2656fs) |
deletion |
CHARGE association [RCV001777192] |
Chr8:60862331 [GRCh38]
Chr8:61774890 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2499-11T>A |
single nucleotide variant |
CHARGE association [RCV001779346] |
Chr8:60816376 [GRCh38]
Chr8:61728935 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu) |
single nucleotide variant |
CHARGE association [RCV002489764]|CHARGE association [RCV002544051]|not provided [RCV001763385] |
Chr8:60742595 [GRCh38]
Chr8:61655154 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7173C>T (p.Ala2391=) |
single nucleotide variant |
CHARGE association [RCV002544326]|not provided [RCV001794964] |
Chr8:60856453 [GRCh38]
Chr8:61769012 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu) |
indel |
CHARGE association [RCV003497936]|CHD7-related condition [RCV003892178]|not provided [RCV001763690] |
Chr8:60853278..60853279 [GRCh38]
Chr8:61765837..61765838 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5345del (p.Pro1782fs) |
deletion |
not provided [RCV001786761] |
Chr8:60849094 [GRCh38]
Chr8:61761653 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3039del (p.Gly1014fs) |
deletion |
CHARGE association [RCV001794856] |
Chr8:60822582 [GRCh38]
Chr8:61735141 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5051_5095del (p.Gly1684_Lys1699delinsGlu) |
deletion |
CHARGE association [RCV001795815] |
Chr8:60845250..60845294 [GRCh38]
Chr8:61757809..61757853 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1633dup (p.Gln545fs) |
duplication |
not provided [RCV001780497] |
Chr8:60743061..60743062 [GRCh38]
Chr8:61655620..61655621 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4378del (p.Glu1459_Ile1460insTer) |
deletion |
not provided [RCV001780774] |
Chr8:60838098 [GRCh38]
Chr8:61750657 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.343del (p.His115fs) |
deletion |
not provided [RCV001780773] |
Chr8:60741772 [GRCh38]
Chr8:61654331 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4036C>T (p.Gln1346Ter) |
single nucleotide variant |
CHD7 disorder [RCV001797039] |
Chr8:60836863 [GRCh38]
Chr8:61749422 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2516A>G (p.Gln839Arg) |
single nucleotide variant |
CHARGE association [RCV002544214]|not provided [RCV001776659] |
Chr8:60816404 [GRCh38]
Chr8:61728963 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6440C>G (p.Ala2147Gly) |
single nucleotide variant |
CHARGE association [RCV002542485]|not provided [RCV001816496] |
Chr8:60853165 [GRCh38]
Chr8:61765724 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2801A>C (p.Lys934Thr) |
single nucleotide variant |
not provided [RCV001797506] |
Chr8:60821893 [GRCh38]
Chr8:61734452 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4115_4116delinsTT (p.Gly1372Val) |
indel |
not provided [RCV001756776] |
Chr8:60836942..60836943 [GRCh38]
Chr8:61749501..61749502 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4850+6T>A |
single nucleotide variant |
CHARGE association [RCV002538708]|Inborn genetic diseases [RCV002543901]|not provided [RCV001732908] |
Chr8:60842058 [GRCh38]
Chr8:61754617 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val) |
single nucleotide variant |
CHARGE association [RCV002477932]|not provided [RCV001758292] |
Chr8:60865350 [GRCh38]
Chr8:61777909 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6102_6103dup (p.Glu2035fs) |
duplication |
not provided [RCV001817663] |
Chr8:60852704..60852705 [GRCh38]
Chr8:61765263..61765264 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7320del (p.Val2441fs) |
deletion |
CHARGE association [RCV001809217] |
Chr8:60856596 [GRCh38]
Chr8:61769155 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3323A>G (p.His1108Arg) |
single nucleotide variant |
not provided [RCV001814776] |
Chr8:60823961 [GRCh38]
Chr8:61736520 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu) |
single nucleotide variant |
CHARGE association [RCV001869735]|CHARGE association [RCV002489881]|not specified [RCV001820664] |
Chr8:60781301 [GRCh38]
Chr8:61693860 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8118G>A (p.Gly2706=) |
single nucleotide variant |
CHARGE association [RCV003772282]|not specified [RCV001817100] |
Chr8:60865057 [GRCh38]
Chr8:61777616 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3656G>A (p.Arg1219Gln) |
single nucleotide variant |
not specified [RCV001822334] |
Chr8:60830455 [GRCh38]
Chr8:61743014 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1085T>C (p.Met362Thr) |
single nucleotide variant |
not specified [RCV001822421] |
Chr8:60742517 [GRCh38]
Chr8:61655076 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del) |
microsatellite |
CHARGE association [RCV002542699]|not specified [RCV001817659] |
Chr8:60856479..60856481 [GRCh38]
Chr8:61769038..61769040 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8294A>T (p.Gln2765Leu) |
single nucleotide variant |
not provided [RCV001806597] |
Chr8:60865233 [GRCh38]
Chr8:61777792 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5734C>G (p.Arg1912Gly) |
single nucleotide variant |
not specified [RCV001817922] |
Chr8:60852087 [GRCh38]
Chr8:61764646 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4416C>A (p.Leu1472=) |
single nucleotide variant |
CHARGE association [RCV002074219]|not provided [RCV001810363] |
Chr8:60838138 [GRCh38]
Chr8:61750697 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5731A>G (p.Thr1911Ala) |
single nucleotide variant |
not specified [RCV001820369] |
Chr8:60852084 [GRCh38]
Chr8:61764643 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4774C>T (p.Arg1592Trp) |
single nucleotide variant |
CHARGE association [RCV003497944]|not specified [RCV001820711] |
Chr8:60841976 [GRCh38]
Chr8:61754535 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.732_739delinsTATGGCAT (p.Pro247Ser) |
indel |
not provided [RCV001822042] |
Chr8:60742164..60742171 [GRCh38]
Chr8:61654723..61654730 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2289_2290insT (p.Glu764Ter) |
insertion |
CHARGE association [RCV001806410] |
Chr8:60800438..60800439 [GRCh38]
Chr8:61712997..61712998 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8278AATCTCCAG[3] (p.2760NLQ[3]) |
microsatellite |
CHARGE association [RCV002001952] |
Chr8:60865213..60865214 [GRCh38]
Chr8:61777772..61777773 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7164+1G>A |
single nucleotide variant |
CHARGE association [RCV001808259]|not provided [RCV002463038] |
Chr8:60856203 [GRCh38]
Chr8:61768762 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.5912del (p.Glu1971fs) |
deletion |
CHARGE association [RCV001823296] |
Chr8:60852515 [GRCh38]
Chr8:61765074 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7434T>G (p.Phe2478Leu) |
single nucleotide variant |
CHARGE association [RCV001896201] |
Chr8:60856714 [GRCh38]
Chr8:61769273 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8599G>A (p.Ala2867Thr) |
single nucleotide variant |
CHARGE association [RCV002009211] |
Chr8:60865538 [GRCh38]
Chr8:61778097 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8579G>A (p.Ser2860Asn) |
single nucleotide variant |
CHARGE association [RCV001928179] |
Chr8:60865518 [GRCh38]
Chr8:61778077 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6892C>G (p.Gln2298Glu) |
single nucleotide variant |
CHARGE association [RCV002009052] |
Chr8:60854479 [GRCh38]
Chr8:61767038 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7007G>A (p.Arg2336Lys) |
single nucleotide variant |
CHARGE association [RCV002044916] |
Chr8:60856045 [GRCh38]
Chr8:61768604 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1049C>T (p.Ala350Val) |
single nucleotide variant |
CHARGE association [RCV001929584] |
Chr8:60742481 [GRCh38]
Chr8:61655040 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6680C>G (p.Thr2227Ser) |
single nucleotide variant |
CHARGE association [RCV001915207] |
Chr8:60853405 [GRCh38]
Chr8:61765964 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4691T>C (p.Leu1564Pro) |
single nucleotide variant |
CHARGE association [RCV001896703] |
Chr8:60841893 [GRCh38]
Chr8:61754452 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.988C>G (p.Gln330Glu) |
single nucleotide variant |
CHARGE association [RCV002009345] |
Chr8:60742420 [GRCh38]
Chr8:61654979 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1445G>A (p.Gly482Asp) |
single nucleotide variant |
CHARGE association [RCV001971595] |
Chr8:60742877 [GRCh38]
Chr8:61655436 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1735C>A (p.Gln579Lys) |
single nucleotide variant |
CHARGE association [RCV002009287] |
Chr8:60781069 [GRCh38]
Chr8:61693628 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6938A>G (p.Asp2313Gly) |
single nucleotide variant |
CHARGE association [RCV002009437] |
Chr8:60855976 [GRCh38]
Chr8:61768535 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8189C>A (p.Ala2730Glu) |
single nucleotide variant |
CHARGE association [RCV001896779] |
Chr8:60865128 [GRCh38]
Chr8:61777687 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5617A>G (p.Asn1873Asp) |
single nucleotide variant |
CHARGE association [RCV001896773]|Inborn genetic diseases [RCV003303340] |
Chr8:60851271 [GRCh38]
Chr8:61763830 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2184C>A (p.Asp728Glu) |
single nucleotide variant |
CHARGE association [RCV002025923] |
Chr8:60795073 [GRCh38]
Chr8:61707632 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1271_1273del (p.Val424del) |
deletion |
CHARGE association [RCV001864010]|not provided [RCV003236902] |
Chr8:60742702..60742704 [GRCh38]
Chr8:61655261..61655263 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5438C>T (p.Pro1813Leu) |
single nucleotide variant |
CHARGE association [RCV001929464] |
Chr8:60850526 [GRCh38]
Chr8:61763085 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5963T>C (p.Val1988Ala) |
single nucleotide variant |
CHARGE association [RCV001873994]|CHD7-related condition [RCV003416503]|Inborn genetic diseases [RCV002359289] |
Chr8:60852566 [GRCh38]
Chr8:61765125 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8413G>T (p.Gly2805Cys) |
single nucleotide variant |
CHARGE association [RCV002008964] |
Chr8:60865352 [GRCh38]
Chr8:61777911 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5814C>A (p.Asp1938Glu) |
single nucleotide variant |
CHARGE association [RCV001894364] |
Chr8:60852167 [GRCh38]
Chr8:61764726 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4775G>A (p.Arg1592Gln) |
single nucleotide variant |
CHARGE association [RCV001914539] |
Chr8:60841977 [GRCh38]
Chr8:61754536 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2129del (p.Ala709_Leu710insTer) |
deletion |
CHARGE association [RCV001929303] |
Chr8:60795016 [GRCh38]
Chr8:61707575 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.302C>T (p.Pro101Leu) |
single nucleotide variant |
CHARGE association [RCV001987299]|Inborn genetic diseases [RCV002441075] |
Chr8:60741734 [GRCh38]
Chr8:61654293 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2442+17C>T |
single nucleotide variant |
CHARGE association [RCV002025101] |
Chr8:60801610 [GRCh38]
Chr8:61714169 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5856A>C (p.Glu1952Asp) |
single nucleotide variant |
CHARGE association [RCV001987405] |
Chr8:60852209 [GRCh38]
Chr8:61764768 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3523-2A>C |
single nucleotide variant |
CHARGE association [RCV002024583] |
Chr8:60830320 [GRCh38]
Chr8:61742879 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7458A>G (p.Gln2486=) |
single nucleotide variant |
CHARGE association [RCV002009014] |
Chr8:60856738 [GRCh38]
Chr8:61769297 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) |
single nucleotide variant |
CHARGE association [RCV001872740]|CHARGE association [RCV002478189]|Inborn genetic diseases [RCV002449507]|not provided [RCV003332354] |
Chr8:60865496 [GRCh38]
Chr8:61778055 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7157T>G (p.Leu2386Trp) |
single nucleotide variant |
CHARGE association [RCV001874276] |
Chr8:60856195 [GRCh38]
Chr8:61768754 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8456del (p.Pro2819fs) |
deletion |
CHARGE association [RCV001823295] |
Chr8:60865393 [GRCh38]
Chr8:61777952 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5743C>T (p.Arg1915Trp) |
single nucleotide variant |
CHARGE association [RCV001911106] |
Chr8:60852096 [GRCh38]
Chr8:61764655 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4261G>A (p.Glu1421Lys) |
single nucleotide variant |
CHARGE association [RCV001968244] |
Chr8:60837743 [GRCh38]
Chr8:61750302 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.719A>G (p.Gln240Arg) |
single nucleotide variant |
CHARGE association [RCV001912016] |
Chr8:60742151 [GRCh38]
Chr8:61654710 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5210+16G>T |
single nucleotide variant |
CHARGE association [RCV002042338] |
Chr8:60845425 [GRCh38]
Chr8:61757984 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1663C>A (p.Gln555Lys) |
single nucleotide variant |
CHARGE association [RCV001945562] |
Chr8:60743095 [GRCh38]
Chr8:61655654 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1577A>G (p.Gln526Arg) |
single nucleotide variant |
CHARGE association [RCV001839189] |
Chr8:60743009 [GRCh38]
Chr8:61655568 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser) |
single nucleotide variant |
CHARGE association [RCV001946345]|CHARGE association [RCV002492004] |
Chr8:60861013 [GRCh38]
Chr8:61773572 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7591C>T (p.Arg2531Trp) |
single nucleotide variant |
CHARGE association [RCV001964326] |
Chr8:60856871 [GRCh38]
Chr8:61769430 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1135C>A (p.Gln379Lys) |
single nucleotide variant |
CHARGE association [RCV001892411] |
Chr8:60742567 [GRCh38]
Chr8:61655126 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val) |
single nucleotide variant |
CHARGE association [RCV002005091]|CHARGE association [RCV002497925] |
Chr8:60856005 [GRCh38]
Chr8:61768564 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2626C>T (p.Leu876Phe) |
single nucleotide variant |
CHARGE association [RCV001911787] |
Chr8:60820019 [GRCh38]
Chr8:61732578 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5114C>A (p.Pro1705Gln) |
single nucleotide variant |
Amenorrhea [RCV001849754] |
Chr8:60845313 [GRCh38]
Chr8:61757872 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4542del (p.Phe1514fs) |
deletion |
CHARGE association [RCV001947076] |
Chr8:60841649 [GRCh38]
Chr8:61754208 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2442+1G>A |
single nucleotide variant |
CHARGE association [RCV002052259] |
Chr8:60801594 [GRCh38]
Chr8:61714153 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.2377-3T>A |
single nucleotide variant |
CHARGE association [RCV001909127] |
Chr8:60801525 [GRCh38]
Chr8:61714084 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter) |
single nucleotide variant |
CHARGE association [RCV001829277] |
Chr8:60816475 [GRCh38]
Chr8:61729034 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8632A>G (p.Thr2878Ala) |
single nucleotide variant |
CHARGE association [RCV002002956] |
Chr8:60865571 [GRCh38]
Chr8:61778130 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1222A>G (p.Thr408Ala) |
single nucleotide variant |
CHARGE association [RCV001965482] |
Chr8:60742654 [GRCh38]
Chr8:61655213 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4899A>G (p.Gln1633=) |
single nucleotide variant |
CHARGE association [RCV002021682] |
Chr8:60844912 [GRCh38]
Chr8:61757471 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5441C>T (p.Ala1814Val) |
single nucleotide variant |
CHARGE association [RCV002006360]|Inborn genetic diseases [RCV002344172] |
Chr8:60850529 [GRCh38]
Chr8:61763088 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.767T>A (p.Phe256Tyr) |
single nucleotide variant |
CHARGE association [RCV001863339] |
Chr8:60742199 [GRCh38]
Chr8:61654758 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.736G>C (p.Ala246Pro) |
single nucleotide variant |
CHARGE association [RCV001927746]|CHARGE association [RCV002484407] |
Chr8:60742168 [GRCh38]
Chr8:61654727 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6737dup (p.Asp2247fs) |
duplication |
CHARGE association [RCV002007500] |
Chr8:60853461..60853462 [GRCh38]
Chr8:61766020..61766021 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1037_1040del (p.Arg346fs) |
deletion |
CHARGE association [RCV002007505] |
Chr8:60742468..60742471 [GRCh38]
Chr8:61655027..61655030 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1159C>T (p.Gln387Ter) |
single nucleotide variant |
CHARGE association [RCV001982883] |
Chr8:60742591 [GRCh38]
Chr8:61655150 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2836-5A>G |
single nucleotide variant |
CHARGE association [RCV001987246]|CHARGE association [RCV002479506] |
Chr8:60822019 [GRCh38]
Chr8:61734578 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4667dup (p.Arg1557fs) |
duplication |
CHARGE association [RCV002007561] |
Chr8:60841867..60841868 [GRCh38]
Chr8:61754426..61754427 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser) |
single nucleotide variant |
CHARGE association [RCV001863452]|CHARGE association [RCV002489952]|Inborn genetic diseases [RCV002425112] |
Chr8:60865170 [GRCh38]
Chr8:61777729 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2874T>A (p.Ser958Arg) |
single nucleotide variant |
CHARGE association [RCV001968237] |
Chr8:60822062 [GRCh38]
Chr8:61734621 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6531dup (p.Pro2178fs) |
duplication |
CHARGE association [RCV002007209] |
Chr8:60853255..60853256 [GRCh38]
Chr8:61765814..61765815 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1285A>C (p.Asn429His) |
single nucleotide variant |
CHARGE association [RCV002020752]|Inborn genetic diseases [RCV003161214] |
Chr8:60742717 [GRCh38]
Chr8:61655276 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7795C>T (p.Pro2599Ser) |
single nucleotide variant |
CHARGE association [RCV001928264] |
Chr8:60861090 [GRCh38]
Chr8:61773649 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4016G>A (p.Arg1339Gln) |
single nucleotide variant |
CHARGE association [RCV001895395]|Inborn genetic diseases [RCV002359347] |
Chr8:60836843 [GRCh38]
Chr8:61749402 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4627dup (p.Asp1543fs) |
duplication |
CHARGE association [RCV001946799] |
Chr8:60841736..60841737 [GRCh38]
Chr8:61754295..61754296 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.463C>T (p.Gln155Ter) |
single nucleotide variant |
CHARGE association [RCV001910543] |
Chr8:60741895 [GRCh38]
Chr8:61654454 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr) |
single nucleotide variant |
CHARGE association [RCV001913464]|CHD7-related condition [RCV003401870]|not provided [RCV003334058] |
Chr8:60865136 [GRCh38]
Chr8:61777695 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5167del (p.Gln1723fs) |
deletion |
CHARGE association [RCV001949272] |
Chr8:60845365 [GRCh38]
Chr8:61757924 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5039T>C (p.Val1680Ala) |
single nucleotide variant |
CHARGE association [RCV002004650] |
Chr8:60845052 [GRCh38]
Chr8:61757611 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2308G>C (p.Glu770Gln) |
single nucleotide variant |
CHARGE association [RCV001928675] |
Chr8:60800457 [GRCh38]
Chr8:61713016 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2853T>A (p.Asp951Glu) |
single nucleotide variant |
CHARGE association [RCV001945911] |
Chr8:60822041 [GRCh38]
Chr8:61734600 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6217C>T (p.Gln2073Ter) |
single nucleotide variant |
CHARGE association [RCV001823293] |
Chr8:60852942 [GRCh38]
Chr8:61765501 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1811A>G (p.Asn604Ser) |
single nucleotide variant |
CHARGE association [RCV001912426] |
Chr8:60781145 [GRCh38]
Chr8:61693704 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6214C>T (p.Pro2072Ser) |
single nucleotide variant |
CHARGE association [RCV002043448] |
Chr8:60852939 [GRCh38]
Chr8:61765498 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) |
single nucleotide variant |
CHARGE association [RCV002021829]|CHARGE association [RCV002492108]|not provided [RCV003120775] |
Chr8:60852088 [GRCh38]
Chr8:61764647 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) |
single nucleotide variant |
CHARGE association [RCV001890882]|CHARGE association [RCV002503505]|Inborn genetic diseases [RCV002554145] |
Chr8:60742474 [GRCh38]
Chr8:61655033 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1562C>T (p.Pro521Leu) |
single nucleotide variant |
CHARGE association [RCV001984076]|not provided [RCV002225957] |
Chr8:60742994 [GRCh38]
Chr8:61655553 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4388T>C (p.Leu1463Pro) |
single nucleotide variant |
Pure gonadal dysgenesis 46,XY [RCV001848622] |
Chr8:60838110 [GRCh38]
Chr8:61750669 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6712G>A (p.Glu2238Lys) |
single nucleotide variant |
CHARGE association [RCV001969438]|CHD7-related condition [RCV003418271] |
Chr8:60853437 [GRCh38]
Chr8:61765996 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7269G>A (p.Met2423Ile) |
single nucleotide variant |
CHARGE association [RCV002006043] |
Chr8:60856549 [GRCh38]
Chr8:61769108 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8164A>C (p.Lys2722Gln) |
single nucleotide variant |
CHARGE association [RCV001912487] |
Chr8:60865103 [GRCh38]
Chr8:61777662 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2396G>T (p.Gly799Val) |
single nucleotide variant |
CHARGE association [RCV002003615] |
Chr8:60801547 [GRCh38]
Chr8:61714106 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.304C>A (p.His102Asn) |
single nucleotide variant |
CHARGE association [RCV001893925] |
Chr8:60741736 [GRCh38]
Chr8:61654295 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.3616A>G (p.Ile1206Val) |
single nucleotide variant |
CHARGE association [RCV001912589] |
Chr8:60830415 [GRCh38]
Chr8:61742974 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2775T>G (p.Asp925Glu) |
single nucleotide variant |
CHARGE association [RCV001968832] |
Chr8:60821867 [GRCh38]
Chr8:61734426 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln) |
single nucleotide variant |
CHARGE association [RCV001908803]|CHARGE association [RCV002478326]|not provided [RCV003228019] |
Chr8:60781405 [GRCh38]
Chr8:61693964 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6160A>G (p.Thr2054Ala) |
single nucleotide variant |
CHARGE association [RCV002041390] |
Chr8:60852885 [GRCh38]
Chr8:61765444 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.466A>C (p.Ile156Leu) |
single nucleotide variant |
CHARGE association [RCV001948526] |
Chr8:60741898 [GRCh38]
Chr8:61654457 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8646A>T (p.Gly2882=) |
single nucleotide variant |
CHARGE association [RCV001892217] |
Chr8:60865585 [GRCh38]
Chr8:61778144 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1774C>A (p.Gln592Lys) |
single nucleotide variant |
CHARGE association [RCV002040510] |
Chr8:60781108 [GRCh38]
Chr8:61693667 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1061C>T (p.Pro354Leu) |
single nucleotide variant |
Developmental disorder [RCV001843795]|Inborn genetic diseases [RCV002543283] |
Chr8:60742493 [GRCh38]
Chr8:61655052 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.356_359dup (p.Gly121fs) |
duplication |
CHARGE association [RCV001946689] |
Chr8:60741786..60741787 [GRCh38]
Chr8:61654345..61654346 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) |
single nucleotide variant |
Amenorrhea [RCV001849752]|CHARGE association [RCV002545278] |
Chr8:60742164 [GRCh38]
Chr8:61654723 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1667A>T (p.His556Leu) |
single nucleotide variant |
not provided [RCV001824505] |
Chr8:60781001 [GRCh38]
Chr8:61693560 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) |
single nucleotide variant |
CHARGE association [RCV001962854]|Primary dilated cardiomyopathy [RCV003319232]|not provided [RCV002300627] |
Chr8:60838238 [GRCh38]
Chr8:61750797 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys) |
single nucleotide variant |
CHARGE association [RCV002038483]|not provided [RCV002255192] |
Chr8:60820067 [GRCh38]
Chr8:61732626 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3160C>T (p.Arg1054Trp) |
single nucleotide variant |
CHARGE association [RCV001941248] |
Chr8:60822705 [GRCh38]
Chr8:61735264 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5265C>A (p.Asp1755Glu) |
single nucleotide variant |
CHARGE association [RCV002035002] |
Chr8:60848569 [GRCh38]
Chr8:61761128 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3517G>A (p.Glu1173Lys) |
single nucleotide variant |
CHARGE association [RCV001944647] |
Chr8:60828801 [GRCh38]
Chr8:61741360 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7752T>A (p.Asp2584Glu) |
single nucleotide variant |
CHARGE association [RCV002020154] |
Chr8:60861047 [GRCh38]
Chr8:61773606 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5327C>G (p.Pro1776Arg) |
single nucleotide variant |
CHARGE association [RCV001936825] |
Chr8:60849077 [GRCh38]
Chr8:61761636 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5784G>C (p.Gln1928His) |
single nucleotide variant |
CHARGE association [RCV002039022] |
Chr8:60852137 [GRCh38]
Chr8:61764696 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2347C>G (p.Pro783Ala) |
single nucleotide variant |
CHARGE association [RCV001905987] |
Chr8:60800496 [GRCh38]
Chr8:61713055 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7164+3G>A |
single nucleotide variant |
CHARGE association [RCV001980836] |
Chr8:60856205 [GRCh38]
Chr8:61768764 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr) |
single nucleotide variant |
CHARGE association [RCV001999599]|CHARGE association [RCV002498030]|not provided [RCV002466737] |
Chr8:60865133 [GRCh38]
Chr8:61777692 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1537A>G (p.Thr513Ala) |
single nucleotide variant |
CHARGE association [RCV001888482] |
Chr8:60742969 [GRCh38]
Chr8:61655528 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5340A>G (p.Glu1780=) |
single nucleotide variant |
CHARGE association [RCV001943169] |
Chr8:60849090 [GRCh38]
Chr8:61761649 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4939C>A (p.Leu1647Met) |
single nucleotide variant |
CHARGE association [RCV001961856] |
Chr8:60844952 [GRCh38]
Chr8:61757511 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6775+1G>A |
single nucleotide variant |
CHARGE association [RCV001956139] |
Chr8:60853501 [GRCh38]
Chr8:61766060 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1446dup (p.Val483fs) |
duplication |
CHARGE association [RCV001950782] |
Chr8:60742877..60742878 [GRCh38]
Chr8:61655436..61655437 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5898G>A (p.Trp1966Ter) |
single nucleotide variant |
CHARGE association [RCV001941998] |
Chr8:60852501 [GRCh38]
Chr8:61765060 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2096+1del |
deletion |
CHARGE association [RCV001956507] |
Chr8:60781430 [GRCh38]
Chr8:61693989 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7956del (p.Lys2652fs) |
deletion |
CHARGE association [RCV001942080] |
Chr8:60862319 [GRCh38]
Chr8:61774878 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.235A>G (p.Lys79Glu) |
single nucleotide variant |
CHARGE association [RCV001943426] |
Chr8:60741667 [GRCh38]
Chr8:61654226 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.634C>T (p.Gln212Ter) |
single nucleotide variant |
CHARGE association [RCV001958734] |
Chr8:60742066 [GRCh38]
Chr8:61654625 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1542TCC[1] (p.Pro516del) |
microsatellite |
CHARGE association [RCV002046201] |
Chr8:60742974..60742976 [GRCh38]
Chr8:61655533..61655535 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4354-1G>A |
single nucleotide variant |
CHARGE association [RCV001956554] |
Chr8:60838075 [GRCh38]
Chr8:61750634 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3843G>T (p.Gln1281His) |
single nucleotide variant |
CHARGE association [RCV002036840] |
Chr8:60836137 [GRCh38]
Chr8:61748696 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.841C>T (p.Gln281Ter) |
single nucleotide variant |
CHARGE association [RCV002000031] |
Chr8:60742273 [GRCh38]
Chr8:61654832 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1315C>T (p.Pro439Ser) |
single nucleotide variant |
CHARGE association [RCV001902830] |
Chr8:60742747 [GRCh38]
Chr8:61655306 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NC_000008.10:g.(?_61121344)_(62626930_?)dup |
duplication |
CHARGE association [RCV001982539] |
Chr8:61121344..62626930 [GRCh37]
Chr8:8q12.1-12.3 |
uncertain significance |
| NM_017780.4(CHD7):c.1361A>G (p.Asn454Ser) |
single nucleotide variant |
CHARGE association [RCV002039230] |
Chr8:60742793 [GRCh38]
Chr8:61655352 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1205T>C (p.Met402Thr) |
single nucleotide variant |
CHARGE association [RCV001886975] |
Chr8:60742637 [GRCh38]
Chr8:61655196 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5148C>T (p.Cys1716=) |
single nucleotide variant |
CHARGE association [RCV001938020] |
Chr8:60845347 [GRCh38]
Chr8:61757906 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2805_2806insTT (p.Met936fs) |
insertion |
CHARGE association [RCV001925267] |
Chr8:60821897..60821898 [GRCh38]
Chr8:61734456..61734457 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8645G>T (p.Gly2882Val) |
single nucleotide variant |
CHARGE association [RCV001888405] |
Chr8:60865584 [GRCh38]
Chr8:61778143 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7065C>G (p.Asp2355Glu) |
single nucleotide variant |
CHARGE association [RCV001992201] |
Chr8:60856103 [GRCh38]
Chr8:61768662 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.337G>T (p.Val113Leu) |
single nucleotide variant |
CHARGE association [RCV001958156] |
Chr8:60741769 [GRCh38]
Chr8:61654328 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2498+3A>G |
single nucleotide variant |
CHARGE association [RCV001899011] |
Chr8:60808275 [GRCh38]
Chr8:61720834 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4798G>A (p.Gly1600Ser) |
single nucleotide variant |
CHARGE association [RCV002011611] |
Chr8:60842000 [GRCh38]
Chr8:61754559 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1429C>T (p.Pro477Ser) |
single nucleotide variant |
CHARGE association [RCV001921161] |
Chr8:60742861 [GRCh38]
Chr8:61655420 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.278C>T (p.Thr93Ile) |
single nucleotide variant |
CHARGE association [RCV001977912]|CHARGE association [RCV002484895] |
Chr8:60741710 [GRCh38]
Chr8:61654269 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1543C>T (p.Pro515Ser) |
single nucleotide variant |
CHARGE association [RCV001899188] |
Chr8:60742975 [GRCh38]
Chr8:61655534 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7996A>G (p.Met2666Val) |
single nucleotide variant |
CHARGE association [RCV001867224] |
Chr8:60862572 [GRCh38]
Chr8:61775131 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1945G>A (p.Ala649Thr) |
single nucleotide variant |
CHARGE association [RCV001920468] |
Chr8:60781279 [GRCh38]
Chr8:61693838 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7936dup (p.Arg2646fs) |
duplication |
CHARGE association [RCV001989921] |
Chr8:60862298..60862299 [GRCh38]
Chr8:61774857..61774858 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val) |
single nucleotide variant |
CHARGE association [RCV001920681]|CHARGE association [RCV002490265]|CHD7-related condition [RCV003892951]|not provided [RCV002290798] |
Chr8:60854369 [GRCh38]
Chr8:61766928 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3126C>A (p.Asn1042Lys) |
single nucleotide variant |
CHARGE association [RCV002010539] |
Chr8:60822671 [GRCh38]
Chr8:61735230 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1392G>T (p.Met464Ile) |
single nucleotide variant |
CHARGE association [RCV001955954] |
Chr8:60742824 [GRCh38]
Chr8:61655383 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5797G>A (p.Ala1933Thr) |
single nucleotide variant |
CHARGE association [RCV001931444] |
Chr8:60852150 [GRCh38]
Chr8:61764709 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8873C>T (p.Ala2958Val) |
single nucleotide variant |
CHARGE association [RCV001900809] |
Chr8:60865812 [GRCh38]
Chr8:61778371 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6677A>G (p.Asp2226Gly) |
single nucleotide variant |
CHARGE association [RCV001971868] |
Chr8:60853402 [GRCh38]
Chr8:61765961 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2495del (p.Asn832fs) |
deletion |
CHARGE association [RCV001956028] |
Chr8:60808265 [GRCh38]
Chr8:61720824 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.685A>C (p.Thr229Pro) |
single nucleotide variant |
CHARGE association [RCV001903260] |
Chr8:60742117 [GRCh38]
Chr8:61654676 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2005A>G (p.Lys669Glu) |
single nucleotide variant |
CHARGE association [RCV001937174] |
Chr8:60781339 [GRCh38]
Chr8:61693898 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu) |
single nucleotide variant |
CHARGE association [RCV002010934]|CHARGE association [RCV002486638] |
Chr8:60781405 [GRCh38]
Chr8:61693964 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2852A>T (p.Asp951Val) |
single nucleotide variant |
CHARGE association [RCV001936629]|not provided [RCV002473330] |
Chr8:60822040 [GRCh38]
Chr8:61734599 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp) |
single nucleotide variant |
CHARGE association [RCV002016485]|CHARGE association [RCV002486676]|not provided [RCV002243508] |
Chr8:60853357 [GRCh38]
Chr8:61765916 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2377-1G>A |
single nucleotide variant |
CHARGE association [RCV001977607] |
Chr8:60801527 [GRCh38]
Chr8:61714086 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6996G>T (p.Trp2332Cys) |
single nucleotide variant |
CHARGE association [RCV001957311] |
Chr8:60856034 [GRCh38]
Chr8:61768593 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1784A>T (p.Gln595Leu) |
single nucleotide variant |
CHARGE association [RCV001875532] |
Chr8:60781118 [GRCh38]
Chr8:61693677 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val) |
single nucleotide variant |
CHARGE association [RCV001958054] |
Chr8:60852638 [GRCh38]
Chr8:61765197 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln) |
single nucleotide variant |
CHARGE association [RCV001991945]|CHARGE association [RCV002479710]|not provided [RCV002224135] |
Chr8:60822706 [GRCh38]
Chr8:61735265 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7015A>T (p.Met2339Leu) |
single nucleotide variant |
CHARGE association [RCV002011357] |
Chr8:60856053 [GRCh38]
Chr8:61768612 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp) |
single nucleotide variant |
CHARGE association [RCV001973704]|CHARGE association [RCV002492199] |
Chr8:60856478 [GRCh38]
Chr8:61769037 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5535-4A>G |
single nucleotide variant |
CHARGE association [RCV001898970] |
Chr8:60851028 [GRCh38]
Chr8:61763587 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8173A>G (p.Ile2725Val) |
single nucleotide variant |
CHARGE association [RCV001930929] |
Chr8:60865112 [GRCh38]
Chr8:61777671 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1881A>G (p.Gln627=) |
single nucleotide variant |
CHARGE association [RCV001951622] |
Chr8:60781215 [GRCh38]
Chr8:61693774 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1751A>T (p.Asp584Val) |
single nucleotide variant |
CHARGE association [RCV001870488] |
Chr8:60781085 [GRCh38]
Chr8:61693644 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3298C>T (p.Arg1100Cys) |
single nucleotide variant |
CHARGE association [RCV002015170]|Hypogonadotropic hypogonadism 5 with or without anosmia [RCV002464506] |
Chr8:60823936 [GRCh38]
Chr8:61736495 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5665+1dup |
duplication |
CHARGE association [RCV001994602] |
Chr8:60851318..60851319 [GRCh38]
Chr8:61763877..61763878 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8452_8454dup (p.Asn2818dup) |
duplication |
CHARGE association [RCV002033627] |
Chr8:60865390..60865391 [GRCh38]
Chr8:61777949..61777950 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.548C>T (p.Pro183Leu) |
single nucleotide variant |
CHARGE association [RCV002020015]|CHARGE association [RCV002486637] |
Chr8:60741980 [GRCh38]
Chr8:61654539 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.2189dup (p.Pro731fs) |
duplication |
CHARGE association [RCV001980032] |
Chr8:60795077..60795078 [GRCh38]
Chr8:61707636..61707637 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.139T>G (p.Phe47Val) |
single nucleotide variant |
CHARGE association [RCV001924508] |
Chr8:60741571 [GRCh38]
Chr8:61654130 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu) |
single nucleotide variant |
CHARGE association [RCV001954581]|Inborn genetic diseases [RCV002560409]|not provided [RCV003886532] |
Chr8:60865446 [GRCh38]
Chr8:61778005 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1774_1778del (p.Gln592fs) |
deletion |
CHARGE association [RCV001937212] |
Chr8:60781107..60781111 [GRCh38]
Chr8:61693666..61693670 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5367A>T (p.Glu1789Asp) |
single nucleotide variant |
CHARGE association [RCV001974402] |
Chr8:60849117 [GRCh38]
Chr8:61761676 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4073A>G (p.Asp1358Gly) |
single nucleotide variant |
CHARGE association [RCV002013490] |
Chr8:60836900 [GRCh38]
Chr8:61749459 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4771C>T (p.Pro1591Ser) |
single nucleotide variant |
CHARGE association [RCV001994265] |
Chr8:60841973 [GRCh38]
Chr8:61754532 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7469C>T (p.Ser2490Leu) |
single nucleotide variant |
CHARGE association [RCV001996143] |
Chr8:60856749 [GRCh38]
Chr8:61769308 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5869G>A (p.Ala1957Thr) |
single nucleotide variant |
CHARGE association [RCV001938768] |
Chr8:60852222 [GRCh38]
Chr8:61764781 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3130G>A (p.Val1044Ile) |
single nucleotide variant |
CHARGE association [RCV002033432] |
Chr8:60822675 [GRCh38]
Chr8:61735234 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.109A>G (p.Met37Val) |
single nucleotide variant |
CHARGE association [RCV001952612]|CHARGE association [RCV002491980]|not provided [RCV003128833] |
Chr8:60741541 [GRCh38]
Chr8:61654100 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6770C>T (p.Pro2257Leu) |
single nucleotide variant |
CHARGE association [RCV001885531] |
Chr8:60853495 [GRCh38]
Chr8:61766054 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5414_5422dup (p.Ser1808Ter) |
duplication |
CHARGE association [RCV002051459] |
Chr8:60850501..60850502 [GRCh38]
Chr8:61763060..61763061 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1105C>G (p.Pro369Ala) |
single nucleotide variant |
CHARGE association [RCV001996867]|not provided [RCV003312027] |
Chr8:60742537 [GRCh38]
Chr8:61655096 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr) |
single nucleotide variant |
CHARGE association [RCV001981054]|CHARGE association [RCV002479701] |
Chr8:60830505 [GRCh38]
Chr8:61743064 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg) |
single nucleotide variant |
CHARGE association [RCV001952827]|CHARGE association [RCV002492000] |
Chr8:60781331 [GRCh38]
Chr8:61693890 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8188G>A (p.Ala2730Thr) |
single nucleotide variant |
CHARGE association [RCV002011399] |
Chr8:60865127 [GRCh38]
Chr8:61777686 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.671A>G (p.Asn224Ser) |
single nucleotide variant |
CHARGE association [RCV002015072]|CHARGE association [RCV002486584] |
Chr8:60742103 [GRCh38]
Chr8:61654662 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6880C>A (p.Pro2294Thr) |
single nucleotide variant |
CHARGE association [RCV001997517] |
Chr8:60854467 [GRCh38]
Chr8:61767026 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7010G>A (p.Arg2337His) |
single nucleotide variant |
CHARGE association [RCV002047934]|CHARGE association [RCV002479749] |
Chr8:60856048 [GRCh38]
Chr8:61768607 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1238T>G (p.Val413Gly) |
single nucleotide variant |
CHARGE association [RCV002049169]|CHARGE association [RCV002486785] |
Chr8:60742670 [GRCh38]
Chr8:61655229 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4854G>T (p.Trp1618Cys) |
single nucleotide variant |
CHARGE association [RCV002016016] |
Chr8:60844867 [GRCh38]
Chr8:61757426 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) |
single nucleotide variant |
CHARGE association [RCV001898814]|CHARGE association [RCV002482801]|Inborn genetic diseases [RCV002370488] |
Chr8:60742370 [GRCh38]
Chr8:61654929 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8262C>G (p.Asp2754Glu) |
single nucleotide variant |
CHARGE association [RCV002017503] |
Chr8:60865201 [GRCh38]
Chr8:61777760 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp) |
single nucleotide variant |
CHARGE association [RCV001904570]|CHARGE association [RCV002489991] |
Chr8:60794987 [GRCh38]
Chr8:61707546 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys) |
single nucleotide variant |
CHARGE association [RCV002019047]|CHARGE association [RCV002497939]|Inborn genetic diseases [RCV002442980] |
Chr8:60865737 [GRCh38]
Chr8:61778296 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn) |
single nucleotide variant |
CHARGE association [RCV002010395]|CHARGE association [RCV002486617]|Inborn genetic diseases [RCV002337116] |
Chr8:60841731 [GRCh38]
Chr8:61754290 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2321dup (p.Asp774fs) |
duplication |
CHARGE association [RCV001938554] |
Chr8:60800469..60800470 [GRCh38]
Chr8:61713028..61713029 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del) |
deletion |
CHARGE association [RCV002036334] |
Chr8:60856668..60856697 [GRCh38]
Chr8:61769227..61769256 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.2246G>A (p.Arg749Gln) |
single nucleotide variant |
CHARGE association [RCV001883971] |
Chr8:60800395 [GRCh38]
Chr8:61712954 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5895-2A>T |
single nucleotide variant |
CHARGE association [RCV001960603] |
Chr8:60852496 [GRCh38]
Chr8:61765055 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7655C>T (p.Pro2552Leu) |
single nucleotide variant |
CHARGE association [RCV002035838] |
Chr8:60860950 [GRCh38]
Chr8:61773509 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7585del (p.His2529fs) |
deletion |
CHARGE association [RCV001981476] |
Chr8:60856864 [GRCh38]
Chr8:61769423 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2443-4dup |
duplication |
CHARGE association [RCV001924824] |
Chr8:60808212..60808213 [GRCh38]
Chr8:61720771..61720772 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8360del (p.Gly2787fs) |
deletion |
CHARGE association [RCV001939389] |
Chr8:60865298 [GRCh38]
Chr8:61777857 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4933del (p.Thr1645fs) |
deletion |
CHARGE association [RCV002035296] |
Chr8:60844945 [GRCh38]
Chr8:61757504 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4671A>G (p.Arg1557=) |
single nucleotide variant |
CHARGE association [RCV001900651] |
Chr8:60841873 [GRCh38]
Chr8:61754432 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8189C>T (p.Ala2730Val) |
single nucleotide variant |
CHARGE association [RCV001918397] |
Chr8:60865128 [GRCh38]
Chr8:61777687 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8407A>G (p.Met2803Val) |
single nucleotide variant |
CHARGE association [RCV002016558] |
Chr8:60865346 [GRCh38]
Chr8:61777905 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NC_000008.10:g.(?_61121344)_(62626930_?)del |
deletion |
CHARGE association [RCV001951214] |
Chr8:61121344..62626930 [GRCh37]
Chr8:8q12.1-12.3 |
pathogenic |
| NM_017780.4(CHD7):c.5016G>A (p.Ala1672=) |
single nucleotide variant |
CHARGE association [RCV001952289] |
Chr8:60845029 [GRCh38]
Chr8:61757588 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.296C>T (p.Ala99Val) |
single nucleotide variant |
CHARGE association [RCV002010947]|Inborn genetic diseases [RCV002441189] |
Chr8:60741728 [GRCh38]
Chr8:61654287 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8077G>A (p.Gly2693Ser) |
single nucleotide variant |
CHARGE association [RCV002048170] |
Chr8:60865016 [GRCh38]
Chr8:61777575 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6935A>G (p.Lys2312Arg) |
single nucleotide variant |
CHARGE association [RCV002050239] |
Chr8:60854522 [GRCh38]
Chr8:61767081 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7109G>T (p.Gly2370Val) |
single nucleotide variant |
CHARGE association [RCV002033838] |
Chr8:60856147 [GRCh38]
Chr8:61768706 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6734T>A (p.Leu2245Gln) |
single nucleotide variant |
CHARGE association [RCV001916408] |
Chr8:60853459 [GRCh38]
Chr8:61766018 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7250G>A (p.Arg2417Lys) |
single nucleotide variant |
CHARGE association [RCV001882039] |
Chr8:60856530 [GRCh38]
Chr8:61769089 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2096+11G>A |
single nucleotide variant |
CHARGE association [RCV002090021] |
Chr8:60781441 [GRCh38]
Chr8:61694000 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5051-14G>T |
single nucleotide variant |
CHARGE association [RCV002147083]|CHD7-related condition [RCV003970960] |
Chr8:60845236 [GRCh38]
Chr8:61757795 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5535-20T>C |
single nucleotide variant |
CHARGE association [RCV002110435] |
Chr8:60851012 [GRCh38]
Chr8:61763571 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2377-13C>A |
single nucleotide variant |
CHARGE association [RCV002110440] |
Chr8:60801515 [GRCh38]
Chr8:61714074 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.72C>G (p.Leu24=) |
single nucleotide variant |
CHARGE association [RCV002130593] |
Chr8:60741504 [GRCh38]
Chr8:61654063 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4170C>T (p.Pro1390=) |
single nucleotide variant |
CHARGE association [RCV002188753]|CHARGE association [RCV002500399] |
Chr8:60836997 [GRCh38]
Chr8:61749556 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.660C>T (p.Leu220=) |
single nucleotide variant |
CHARGE association [RCV002104432] |
Chr8:60742092 [GRCh38]
Chr8:61654651 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7488T>C (p.His2496=) |
single nucleotide variant |
CHARGE association [RCV002105262] |
Chr8:60856768 [GRCh38]
Chr8:61769327 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5565A>G (p.Pro1855=) |
single nucleotide variant |
CHARGE association [RCV002146787] |
Chr8:60851062 [GRCh38]
Chr8:61763621 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3378+16G>A |
single nucleotide variant |
CHARGE association [RCV002109147] |
Chr8:60824032 [GRCh38]
Chr8:61736591 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5211-18C>G |
single nucleotide variant |
CHARGE association [RCV002125638] |
Chr8:60848497 [GRCh38]
Chr8:61761056 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5211-17T>C |
single nucleotide variant |
CHARGE association [RCV002208799] |
Chr8:60848498 [GRCh38]
Chr8:61761057 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2013G>A (p.Pro671=) |
single nucleotide variant |
CHARGE association [RCV002192527] |
Chr8:60781347 [GRCh38]
Chr8:61693906 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5256G>A (p.Val1752=) |
single nucleotide variant |
CHARGE association [RCV002086194] |
Chr8:60848560 [GRCh38]
Chr8:61761119 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4146C>T (p.Ile1382=) |
single nucleotide variant |
CHARGE association [RCV002086600]|Inborn genetic diseases [RCV002331775] |
Chr8:60836973 [GRCh38]
Chr8:61749532 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.486G>A (p.Gln162=) |
single nucleotide variant |
CHARGE association [RCV002072850]|CHARGE association [RCV002494021] |
Chr8:60741918 [GRCh38]
Chr8:61654477 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.474C>T (p.Ala158=) |
single nucleotide variant |
CHARGE association [RCV002124532] |
Chr8:60741906 [GRCh38]
Chr8:61654465 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2787C>A (p.Ile929=) |
single nucleotide variant |
CHARGE association [RCV002165519] |
Chr8:60821879 [GRCh38]
Chr8:61734438 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3900A>G (p.Pro1300=) |
single nucleotide variant |
CHARGE association [RCV002145703] |
Chr8:60836194 [GRCh38]
Chr8:61748753 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5666-19T>C |
single nucleotide variant |
CHARGE association [RCV002110863] |
Chr8:60852000 [GRCh38]
Chr8:61764559 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4354-7A>G |
single nucleotide variant |
CHARGE association [RCV002110871] |
Chr8:60838069 [GRCh38]
Chr8:61750628 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5665+11A>G |
single nucleotide variant |
CHARGE association [RCV002127237]|CHARGE association [RCV002500059] |
Chr8:60851330 [GRCh38]
Chr8:61763889 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.1958C>G (p.Pro653Arg) |
single nucleotide variant |
CHARGE association [RCV003603111]|Inborn genetic diseases [RCV003089111]|not provided [RCV002211014] |
Chr8:60781292 [GRCh38]
Chr8:61693851 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8149A>C (p.Arg2717=) |
single nucleotide variant |
CHARGE association [RCV002187213] |
Chr8:60865088 [GRCh38]
Chr8:61777647 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8076+16A>G |
single nucleotide variant |
CHARGE association [RCV002167125] |
Chr8:60862668 [GRCh38]
Chr8:61775227 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8355C>T (p.Ala2785=) |
single nucleotide variant |
CHARGE association [RCV002209627] |
Chr8:60865294 [GRCh38]
Chr8:61777853 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3779-15G>A |
single nucleotide variant |
CHARGE association [RCV002190221] |
Chr8:60836058 [GRCh38]
Chr8:61748617 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.561G>A (p.Gln187=) |
single nucleotide variant |
CHARGE association [RCV002109543]|CHD7-related condition [RCV003903372]|Inborn genetic diseases [RCV002346443] |
Chr8:60741993 [GRCh38]
Chr8:61654552 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5211-19C>A |
single nucleotide variant |
CHARGE association [RCV002111626] |
Chr8:60848496 [GRCh38]
Chr8:61761055 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5050+17C>G |
single nucleotide variant |
CHARGE association [RCV002130812] |
Chr8:60845080 [GRCh38]
Chr8:61757639 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8424C>T (p.Asn2808=) |
single nucleotide variant |
CHARGE association [RCV002126774] |
Chr8:60865363 [GRCh38]
Chr8:61777922 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6435A>G (p.Pro2145=) |
single nucleotide variant |
CHARGE association [RCV002128296] |
Chr8:60853160 [GRCh38]
Chr8:61765719 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3267T>G (p.Thr1089=) |
single nucleotide variant |
CHARGE association [RCV002106273] |
Chr8:60823905 [GRCh38]
Chr8:61736464 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6393T>C (p.Phe2131=) |
single nucleotide variant |
CHARGE association [RCV002188034] |
Chr8:60853118 [GRCh38]
Chr8:61765677 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4446C>T (p.Phe1482=) |
single nucleotide variant |
CHARGE association [RCV002192500] |
Chr8:60838168 [GRCh38]
Chr8:61750727 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3989+11C>T |
single nucleotide variant |
CHARGE association [RCV002112381] |
Chr8:60836294 [GRCh38]
Chr8:61748853 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2376+8C>A |
single nucleotide variant |
CHARGE association [RCV002192567] |
Chr8:60800533 [GRCh38]
Chr8:61713092 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8574G>A (p.Glu2858=) |
single nucleotide variant |
CHARGE association [RCV002084558] |
Chr8:60865513 [GRCh38]
Chr8:61778072 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7971+11G>A |
single nucleotide variant |
CHARGE association [RCV002084569] |
Chr8:60862347 [GRCh38]
Chr8:61774906 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6396T>C (p.Ala2132=) |
single nucleotide variant |
CHARGE association [RCV002108757]|not provided [RCV003426340] |
Chr8:60853121 [GRCh38]
Chr8:61765680 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1665+16G>A |
single nucleotide variant |
CHARGE association [RCV002089172] |
Chr8:60743113 [GRCh38]
Chr8:61655672 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5404+14C>T |
single nucleotide variant |
CHARGE association [RCV002185059] |
Chr8:60849168 [GRCh38]
Chr8:61761727 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2097-20C>T |
single nucleotide variant |
CHARGE association [RCV002086236]|not provided [RCV003883779] |
Chr8:60794966 [GRCh38]
Chr8:61707525 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2499-19del |
deletion |
CHARGE association [RCV002087706] |
Chr8:60816368 [GRCh38]
Chr8:61728927 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8274T>C (p.Leu2758=) |
single nucleotide variant |
CHARGE association [RCV002087942] |
Chr8:60865213 [GRCh38]
Chr8:61777772 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1665+17C>T |
single nucleotide variant |
CHARGE association [RCV002147369] |
Chr8:60743114 [GRCh38]
Chr8:61655673 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.411C>G (p.Ser137=) |
single nucleotide variant |
CHARGE association [RCV002168339]|See cases [RCV002252768] |
Chr8:60741843 [GRCh38]
Chr8:61654402 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7470G>C (p.Ser2490=) |
single nucleotide variant |
CHARGE association [RCV002086559]|Inborn genetic diseases [RCV002391289] |
Chr8:60856750 [GRCh38]
Chr8:61769309 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8868C>T (p.Ser2956=) |
single nucleotide variant |
CHARGE association [RCV002207840] |
Chr8:60865807 [GRCh38]
Chr8:61778366 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4645-15C>G |
single nucleotide variant |
CHARGE association [RCV002110621] |
Chr8:60841832 [GRCh38]
Chr8:61754391 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2377-17C>T |
single nucleotide variant |
CHARGE association [RCV002188196]|CHARGE association [RCV002498192] |
Chr8:60801511 [GRCh38]
Chr8:61714070 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6471C>T (p.Ile2157=) |
single nucleotide variant |
CHARGE association [RCV002147575] |
Chr8:60853196 [GRCh38]
Chr8:61765755 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4850+16T>G |
single nucleotide variant |
CHARGE association [RCV002205311] |
Chr8:60842068 [GRCh38]
Chr8:61754627 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.318C>T (p.His106=) |
single nucleotide variant |
CHARGE association [RCV002091524] |
Chr8:60741750 [GRCh38]
Chr8:61654309 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6147G>A (p.Glu2049=) |
single nucleotide variant |
CHARGE association [RCV002206905] |
Chr8:60852872 [GRCh38]
Chr8:61765431 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2176G>T (p.Asp726Tyr) |
single nucleotide variant |
CHARGE association [RCV002209858] |
Chr8:60795065 [GRCh38]
Chr8:61707624 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6090C>A (p.Val2030=) |
single nucleotide variant |
CHARGE association [RCV002110029] |
Chr8:60852693 [GRCh38]
Chr8:61765252 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5301-17T>C |
single nucleotide variant |
CHARGE association [RCV002152414] |
Chr8:60849034 [GRCh38]
Chr8:61761593 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5050+7C>T |
single nucleotide variant |
CHARGE association [RCV002197653] |
Chr8:60845070 [GRCh38]
Chr8:61757629 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3522+14C>G |
single nucleotide variant |
CHARGE association [RCV002097541] |
Chr8:60828820 [GRCh38]
Chr8:61741379 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5210+9T>G |
single nucleotide variant |
CHARGE association [RCV002096772] |
Chr8:60845418 [GRCh38]
Chr8:61757977 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1092G>A (p.Gln364=) |
single nucleotide variant |
CHARGE association [RCV002191409] |
Chr8:60742524 [GRCh38]
Chr8:61655083 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2443-11T>G |
single nucleotide variant |
CHARGE association [RCV002097454] |
Chr8:60808206 [GRCh38]
Chr8:61720765 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6776-13A>G |
single nucleotide variant |
CHARGE association [RCV002216143] |
Chr8:60854350 [GRCh38]
Chr8:61766909 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4645-16C>T |
single nucleotide variant |
CHARGE association [RCV002133038] |
Chr8:60841831 [GRCh38]
Chr8:61754390 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5210+14G>C |
single nucleotide variant |
CHARGE association [RCV002096291] |
Chr8:60845423 [GRCh38]
Chr8:61757982 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4920A>G (p.Glu1640=) |
single nucleotide variant |
CHARGE association [RCV002189972]|CHD7-related condition [RCV003911239]|Inborn genetic diseases [RCV002346368] |
Chr8:60844933 [GRCh38]
Chr8:61757492 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2835+18G>C |
single nucleotide variant |
CHARGE association [RCV002078565]|CHARGE association [RCV002507939] |
Chr8:60821945 [GRCh38]
Chr8:61734504 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.6135G>T (p.Pro2045=) |
single nucleotide variant |
CHARGE association [RCV002076821] |
Chr8:60852860 [GRCh38]
Chr8:61765419 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5025G>A (p.Gln1675=) |
single nucleotide variant |
CHARGE association [RCV002096938] |
Chr8:60845038 [GRCh38]
Chr8:61757597 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4534-11T>C |
single nucleotide variant |
CHARGE association [RCV002088238] |
Chr8:60841633 [GRCh38]
Chr8:61754192 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7972-4C>T |
single nucleotide variant |
CHARGE association [RCV002113970] |
Chr8:60862544 [GRCh38]
Chr8:61775103 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4534-20C>A |
single nucleotide variant |
CHARGE association [RCV002076384] |
Chr8:60841624 [GRCh38]
Chr8:61754183 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2958-16C>A |
single nucleotide variant |
CHARGE association [RCV002077751] |
Chr8:60822487 [GRCh38]
Chr8:61735046 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4260T>C (p.Tyr1420=) |
single nucleotide variant |
CHARGE association [RCV002166191] |
Chr8:60837742 [GRCh38]
Chr8:61750301 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5050+19G>A |
single nucleotide variant |
CHARGE association [RCV002195334] |
Chr8:60845082 [GRCh38]
Chr8:61757641 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2496C>T (p.Asn832=) |
single nucleotide variant |
CHARGE association [RCV002078818] |
Chr8:60808270 [GRCh38]
Chr8:61720829 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5988A>G (p.Gln1996=) |
single nucleotide variant |
CHARGE association [RCV002079361] |
Chr8:60852591 [GRCh38]
Chr8:61765150 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4644+9_4644+10insTTG |
insertion |
CHARGE association [RCV002172287] |
Chr8:60841762..60841763 [GRCh38]
Chr8:61754321..61754322 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1473C>T (p.Ile491=) |
single nucleotide variant |
CHARGE association [RCV002077752]|CHD7-related condition [RCV003893104] |
Chr8:60742905 [GRCh38]
Chr8:61655464 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.8508G>A (p.Pro2836=) |
single nucleotide variant |
CHARGE association [RCV002116269] |
Chr8:60865447 [GRCh38]
Chr8:61778006 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6775+13C>T |
single nucleotide variant |
CHARGE association [RCV002113390] |
Chr8:60853513 [GRCh38]
Chr8:61766072 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.698G>A (p.Gly233Asp) |
single nucleotide variant |
CHARGE association [RCV002208877] |
Chr8:60742130 [GRCh38]
Chr8:61654689 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4224T>C (p.Ser1408=) |
single nucleotide variant |
CHARGE association [RCV002172089] |
Chr8:60837706 [GRCh38]
Chr8:61750265 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7831-17T>C |
single nucleotide variant |
CHARGE association [RCV002193652] |
Chr8:60862179 [GRCh38]
Chr8:61774738 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7380T>G (p.Ser2460=) |
single nucleotide variant |
CHARGE association [RCV002150434] |
Chr8:60856660 [GRCh38]
Chr8:61769219 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4644+20C>T |
single nucleotide variant |
CHARGE association [RCV002133675] |
Chr8:60841774 [GRCh38]
Chr8:61754333 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.141T>C (p.Phe47=) |
single nucleotide variant |
CHARGE association [RCV002106420] |
Chr8:60741573 [GRCh38]
Chr8:61654132 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6936+19C>G |
single nucleotide variant |
CHARGE association [RCV002076108] |
Chr8:60854542 [GRCh38]
Chr8:61767101 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7092T>C (p.Ala2364=) |
single nucleotide variant |
CHARGE association [RCV002212595] |
Chr8:60856130 [GRCh38]
Chr8:61768689 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5895-18_5895-17insGA |
insertion |
CHARGE association [RCV002115150] |
Chr8:60852479..60852480 [GRCh38]
Chr8:61765038..61765039 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3654C>T (p.Tyr1218=) |
single nucleotide variant |
CHARGE association [RCV002173560] |
Chr8:60830453 [GRCh38]
Chr8:61743012 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2377-8T>G |
single nucleotide variant |
CHARGE association [RCV002096536] |
Chr8:60801520 [GRCh38]
Chr8:61714079 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4850+13C>T |
single nucleotide variant |
CHARGE association [RCV002205079] |
Chr8:60842065 [GRCh38]
Chr8:61754624 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NC_000008.11:g.60867891_60867903delins60868515_60868872 |
indel |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV002086759] |
Chr8:60867891..60867903 [GRCh38]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6924G>C (p.Ser2308=) |
single nucleotide variant |
CHARGE association [RCV002127652]|CHARGE association [RCV002500066] |
Chr8:60854511 [GRCh38]
Chr8:61767070 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.699C>T (p.Gly233=) |
single nucleotide variant |
CHARGE association [RCV002170723] |
Chr8:60742131 [GRCh38]
Chr8:61654690 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6775+10T>C |
single nucleotide variant |
CHARGE association [RCV002079493] |
Chr8:60853510 [GRCh38]
Chr8:61766069 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5050+20T>A |
single nucleotide variant |
CHARGE association [RCV002096624] |
Chr8:60845083 [GRCh38]
Chr8:61757642 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5356T>C (p.Trp1786Arg) |
single nucleotide variant |
not provided [RCV002224857] |
Chr8:60849106 [GRCh38]
Chr8:61761665 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5211-16_5211-15del |
microsatellite |
CHARGE association [RCV002088200] |
Chr8:60848497..60848498 [GRCh38]
Chr8:61761056..61761057 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6A>G (p.Ala2=) |
single nucleotide variant |
CHARGE association [RCV002211892] |
Chr8:60741438 [GRCh38]
Chr8:61653997 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4850+19G>A |
single nucleotide variant |
CHARGE association [RCV002194860] |
Chr8:60842071 [GRCh38]
Chr8:61754630 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5763G>A (p.Gln1921=) |
single nucleotide variant |
CHARGE association [RCV002152365] |
Chr8:60852116 [GRCh38]
Chr8:61764675 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6864C>T (p.Tyr2288=) |
single nucleotide variant |
CHARGE association [RCV002080144] |
Chr8:60854451 [GRCh38]
Chr8:61767010 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6436C>T (p.Leu2146=) |
single nucleotide variant |
CHARGE association [RCV002148010] |
Chr8:60853161 [GRCh38]
Chr8:61765720 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2376+9C>T |
single nucleotide variant |
CHARGE association [RCV002116478] |
Chr8:60800534 [GRCh38]
Chr8:61713093 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8662C>T (p.Leu2888=) |
single nucleotide variant |
CHARGE association [RCV002171841] |
Chr8:60865601 [GRCh38]
Chr8:61778160 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1674G>T (p.Pro558=) |
single nucleotide variant |
CHARGE association [RCV002166177] |
Chr8:60781008 [GRCh38]
Chr8:61693567 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6327C>T (p.Val2109=) |
single nucleotide variant |
CHARGE association [RCV002173728] |
Chr8:60853052 [GRCh38]
Chr8:61765611 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1890T>C (p.Asn630=) |
single nucleotide variant |
CHARGE association [RCV002149378] |
Chr8:60781224 [GRCh38]
Chr8:61693783 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5051-20T>A |
single nucleotide variant |
CHARGE association [RCV002126634] |
Chr8:60845230 [GRCh38]
Chr8:61757789 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6753G>A (p.Ser2251=) |
single nucleotide variant |
CHARGE association [RCV002170670] |
Chr8:60853478 [GRCh38]
Chr8:61766037 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3522+20T>G |
single nucleotide variant |
CHARGE association [RCV002071655]|CHARGE association [RCV002494341] |
Chr8:60828826 [GRCh38]
Chr8:61741385 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7497T>C (p.Asn2499=) |
single nucleotide variant |
CHARGE association [RCV002108453] |
Chr8:60856777 [GRCh38]
Chr8:61769336 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3324C>T (p.His1108=) |
single nucleotide variant |
CHARGE association [RCV002214950] |
Chr8:60823962 [GRCh38]
Chr8:61736521 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.54T>C (p.Ser18=) |
single nucleotide variant |
CHARGE association [RCV002133532] |
Chr8:60741486 [GRCh38]
Chr8:61654045 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3381A>G (p.Glu1127=) |
single nucleotide variant |
CHARGE association [RCV002080608] |
Chr8:60828665 [GRCh38]
Chr8:61741224 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2097-9G>C |
single nucleotide variant |
CHARGE association [RCV002131356]|CHARGE association [RCV002494429]|CHD7-related condition [RCV003978838] |
Chr8:60794977 [GRCh38]
Chr8:61707536 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2118A>G (p.Glu706=) |
single nucleotide variant |
CHARGE association [RCV002132929] |
Chr8:60795007 [GRCh38]
Chr8:61707566 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3523-15A>G |
single nucleotide variant |
CHARGE association [RCV002082967] |
Chr8:60830307 [GRCh38]
Chr8:61742866 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5051-17T>G |
single nucleotide variant |
CHARGE association [RCV002121222] |
Chr8:60845233 [GRCh38]
Chr8:61757792 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2096+23_2096+25del |
microsatellite |
CHARGE association [RCV002216738] |
Chr8:60781450..60781452 [GRCh38]
Chr8:61694009..61694011 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5405-18C>T |
single nucleotide variant |
CHARGE association [RCV002098236]|CHD7-related condition [RCV003958651] |
Chr8:60850475 [GRCh38]
Chr8:61763034 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.780C>T (p.Pro260=) |
single nucleotide variant |
CHARGE association [RCV002181162] |
Chr8:60742212 [GRCh38]
Chr8:61654771 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4534-19G>A |
single nucleotide variant |
CHARGE association [RCV002081763] |
Chr8:60841625 [GRCh38]
Chr8:61754184 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1107C>T (p.Pro369=) |
single nucleotide variant |
CHARGE association [RCV002102192] |
Chr8:60742539 [GRCh38]
Chr8:61655098 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.294C>T (p.Leu98=) |
single nucleotide variant |
CHARGE association [RCV002158302]|Inborn genetic diseases [RCV002434579] |
Chr8:60741726 [GRCh38]
Chr8:61654285 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3202-7C>G |
single nucleotide variant |
CHARGE association [RCV003603112]|not provided [RCV002248240] |
Chr8:60823833 [GRCh38]
Chr8:61736392 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4245T>A (p.Ile1415=) |
single nucleotide variant |
CHARGE association [RCV002084346] |
Chr8:60837727 [GRCh38]
Chr8:61750286 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4881C>T (p.His1627=) |
single nucleotide variant |
CHARGE association [RCV002204850]|CHARGE association [RCV002479874] |
Chr8:60844894 [GRCh38]
Chr8:61757453 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2836-13A>G |
single nucleotide variant |
CHARGE association [RCV002120980] |
Chr8:60822011 [GRCh38]
Chr8:61734570 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8802C>T (p.Ser2934=) |
single nucleotide variant |
CHARGE association [RCV002142710] |
Chr8:60865741 [GRCh38]
Chr8:61778300 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4359A>G (p.Gln1453=) |
single nucleotide variant |
CHARGE association [RCV002218207]|Inborn genetic diseases [RCV002331701] |
Chr8:60838081 [GRCh38]
Chr8:61750640 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5409T>C (p.Tyr1803=) |
single nucleotide variant |
CHARGE association [RCV002140813] |
Chr8:60850497 [GRCh38]
Chr8:61763056 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.498G>A (p.Gln166=) |
single nucleotide variant |
CHARGE association [RCV002177266] |
Chr8:60741930 [GRCh38]
Chr8:61654489 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.42G>A (p.Gly14=) |
single nucleotide variant |
CHARGE association [RCV002117764] |
Chr8:60741474 [GRCh38]
Chr8:61654033 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5404+5G>A |
single nucleotide variant |
CHARGE association [RCV002245511] |
Chr8:60849159 [GRCh38]
Chr8:61761718 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.804C>T (p.Ser268=) |
single nucleotide variant |
CHARGE association [RCV002143344] |
Chr8:60742236 [GRCh38]
Chr8:61654795 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5050+1G>C |
single nucleotide variant |
CHARGE association [RCV002249352] |
Chr8:60845064 [GRCh38]
Chr8:61757623 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3778+16T>G |
single nucleotide variant |
CHARGE association [RCV002143648]|CHARGE association [RCV002494458] |
Chr8:60830593 [GRCh38]
Chr8:61743152 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1233A>G (p.Pro411=) |
single nucleotide variant |
CHARGE association [RCV002120515] |
Chr8:60742665 [GRCh38]
Chr8:61655224 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5202C>T (p.His1734=) |
single nucleotide variant |
CHARGE association [RCV002120565] |
Chr8:60845401 [GRCh38]
Chr8:61757960 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2697+20A>G |
single nucleotide variant |
CHARGE association [RCV002217641] |
Chr8:60820110 [GRCh38]
Chr8:61732669 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1980G>A (p.Lys660=) |
single nucleotide variant |
CHARGE association [RCV002155236] |
Chr8:60781314 [GRCh38]
Chr8:61693873 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2123G>A (p.Ser708Asn) |
single nucleotide variant |
CHARGE association [RCV002204903]|Inborn genetic diseases [RCV002561626] |
Chr8:60795012 [GRCh38]
Chr8:61707571 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8076+14G>A |
single nucleotide variant |
CHARGE association [RCV002163020] |
Chr8:60862666 [GRCh38]
Chr8:61775225 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3779-18G>A |
single nucleotide variant |
CHARGE association [RCV002199876] |
Chr8:60836055 [GRCh38]
Chr8:61748614 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7746G>A (p.Gly2582=) |
single nucleotide variant |
CHARGE association [RCV002100504]|CHD7-related condition [RCV003958652] |
Chr8:60861041 [GRCh38]
Chr8:61773600 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4614T>C (p.Ala1538=) |
single nucleotide variant |
CHARGE association [RCV002123218] |
Chr8:60841724 [GRCh38]
Chr8:61754283 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1173C>G (p.Ala391=) |
single nucleotide variant |
CHARGE association [RCV002181101] |
Chr8:60742605 [GRCh38]
Chr8:61655164 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2499-10G>T |
single nucleotide variant |
CHARGE association [RCV002139826] |
Chr8:60816377 [GRCh38]
Chr8:61728936 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8546del (p.Glu2849fs) |
deletion |
CHARGE association [RCV002221928] |
|
pathogenic |
| NM_017780.4(CHD7):c.5067G>A (p.Val1689=) |
single nucleotide variant |
CHARGE association [RCV002201023]|CHD7-related condition [RCV003896055] |
Chr8:60845266 [GRCh38]
Chr8:61757825 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5665+13A>G |
single nucleotide variant |
CHARGE association [RCV002097831] |
Chr8:60851332 [GRCh38]
Chr8:61763891 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5727G>A (p.Leu1909=) |
single nucleotide variant |
CHARGE association [RCV002155748] |
Chr8:60852080 [GRCh38]
Chr8:61764639 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6104-5T>C |
single nucleotide variant |
CHARGE association [RCV002098081] |
Chr8:60852824 [GRCh38]
Chr8:61765383 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1260A>C (p.Ile420=) |
single nucleotide variant |
CHARGE association [RCV002100021] |
Chr8:60742692 [GRCh38]
Chr8:61655251 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3778+18G>A |
single nucleotide variant |
CHARGE association [RCV002200077] |
Chr8:60830595 [GRCh38]
Chr8:61743154 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3522+11G>C |
single nucleotide variant |
CHARGE association [RCV002135785] |
Chr8:60828817 [GRCh38]
Chr8:61741376 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6600G>A (p.Gly2200=) |
single nucleotide variant |
CHARGE association [RCV002159988] |
Chr8:60853325 [GRCh38]
Chr8:61765884 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2614-9T>C |
single nucleotide variant |
CHARGE association [RCV002198158] |
Chr8:60819998 [GRCh38]
Chr8:61732557 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4047C>T (p.Ile1349=) |
single nucleotide variant |
CHARGE association [RCV002098607]|CHARGE association [RCV002499944] |
Chr8:60836874 [GRCh38]
Chr8:61749433 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5214C>T (p.Val1738=) |
single nucleotide variant |
CHARGE association [RCV002184036]|Inborn genetic diseases [RCV003161665] |
Chr8:60848518 [GRCh38]
Chr8:61761077 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4185+19C>T |
single nucleotide variant |
CHARGE association [RCV002124154]|CHARGE association [RCV002486946] |
Chr8:60837031 [GRCh38]
Chr8:61749590 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5301-13T>C |
single nucleotide variant |
CHARGE association [RCV002144182]|CHARGE association [RCV002505828] |
Chr8:60849038 [GRCh38]
Chr8:61761597 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4644+17A>G |
single nucleotide variant |
CHARGE association [RCV002102851]|CHARGE association [RCV002494189] |
Chr8:60841771 [GRCh38]
Chr8:61754330 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3378+18T>C |
single nucleotide variant |
CHARGE association [RCV002163211]|CHARGE association [RCV002500327] |
Chr8:60824034 [GRCh38]
Chr8:61736593 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6459T>C (p.Thr2153=) |
single nucleotide variant |
CHARGE association [RCV002101703] |
Chr8:60853184 [GRCh38]
Chr8:61765743 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5211-12C>T |
single nucleotide variant |
CHARGE association [RCV002142442] |
Chr8:60848503 [GRCh38]
Chr8:61761062 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2442+7G>A |
single nucleotide variant |
CHARGE association [RCV003110818] |
Chr8:60801600 [GRCh38]
Chr8:61714159 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4136A>T (p.Asp1379Val) |
single nucleotide variant |
not provided [RCV003109959] |
Chr8:60836963 [GRCh38]
Chr8:61749522 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6331C>T (p.Arg2111Trp) |
single nucleotide variant |
not provided [RCV003110062] |
Chr8:60853056 [GRCh38]
Chr8:61765615 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6196G>A (p.Glu2066Lys) |
single nucleotide variant |
not provided [RCV003110101] |
Chr8:60852921 [GRCh38]
Chr8:61765480 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.328G>A (p.Val110Ile) |
single nucleotide variant |
CHARGE association [RCV003118031] |
Chr8:60741760 [GRCh38]
Chr8:61654319 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5842G>A (p.Val1948Met) |
single nucleotide variant |
CHARGE association [RCV003118367] |
Chr8:60852195 [GRCh38]
Chr8:61764754 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val) |
single nucleotide variant |
CHARGE association [RCV003112024] |
Chr8:60865683 [GRCh38]
Chr8:61778242 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1095G>C (p.Gln365His) |
single nucleotide variant |
CHARGE association [RCV003112692]|Inborn genetic diseases [RCV003384358] |
Chr8:60742527 [GRCh38]
Chr8:61655086 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.8948C>T (p.Ser2983Leu) |
single nucleotide variant |
CHARGE association [RCV003112694] |
Chr8:60865887 [GRCh38]
Chr8:61778446 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6937-19A>G |
single nucleotide variant |
CHARGE association [RCV003112141] |
Chr8:60855956 [GRCh38]
Chr8:61768515 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.838C>T (p.Pro280Ser) |
single nucleotide variant |
CHARGE association [RCV003115070]|CHD7-related condition [RCV003900944] |
Chr8:60742270 [GRCh38]
Chr8:61654829 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7807G>A (p.Val2603Ile) |
single nucleotide variant |
CHARGE association [RCV003112936] |
Chr8:60861102 [GRCh38]
Chr8:61773661 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4473C>T (p.Leu1491=) |
single nucleotide variant |
CHARGE association [RCV003118539] |
Chr8:60838195 [GRCh38]
Chr8:61750754 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4476A>G (p.Leu1492=) |
single nucleotide variant |
CHARGE association [RCV003118553] |
Chr8:60838198 [GRCh38]
Chr8:61750757 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5765G>A (p.Arg1922His) |
single nucleotide variant |
CHARGE association [RCV003497973]|not specified [RCV003123504] |
Chr8:60852118 [GRCh38]
Chr8:61764677 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7692C>T (p.Asp2564=) |
single nucleotide variant |
CHARGE association [RCV003121115] |
Chr8:60860987 [GRCh38]
Chr8:61773546 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5782C>T (p.Gln1928Ter) |
single nucleotide variant |
CHARGE association [RCV003236641] |
Chr8:60852135 [GRCh38]
Chr8:61764694 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2711A>G (p.Tyr904Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003276346] |
Chr8:60821803 [GRCh38]
Chr8:61734362 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter) |
single nucleotide variant |
CHARGE association [RCV003152969] |
Chr8:60841985 [GRCh38]
Chr8:61754544 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1041C>G (p.Tyr347Ter) |
single nucleotide variant |
See cases [RCV003156186] |
Chr8:60742473 [GRCh38]
Chr8:61655032 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8198C>A (p.Ala2733Asp) |
single nucleotide variant |
not provided [RCV003129245] |
Chr8:60865137 [GRCh38]
Chr8:61777696 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5955del (p.Phe1985fs) |
deletion |
CHARGE association [RCV003153021] |
Chr8:60852554 [GRCh38]
Chr8:61765113 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs) |
deletion |
CHARGE association [RCV003150844] |
Chr8:60853246..60853250 [GRCh38]
Chr8:61765805..61765809 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7519C>T (p.Pro2507Ser) |
single nucleotide variant |
not provided [RCV003152057] |
Chr8:60856799 [GRCh38]
Chr8:61769358 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2238G>C (p.Gln746His) |
single nucleotide variant |
CHARGE association [RCV003148199] |
Chr8:60795127 [GRCh38]
Chr8:61707686 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3319G>A (p.Ala1107Thr) |
single nucleotide variant |
not provided [RCV003154119] |
Chr8:60823957 [GRCh38]
Chr8:61736516 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr) |
single nucleotide variant |
CHARGE association [RCV002245274]|CHARGE association [RCV002496180]|not provided [RCV003443012] |
Chr8:60781015 [GRCh38]
Chr8:61693574 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6372C>G (p.Phe2124Leu) |
single nucleotide variant |
not provided [RCV003129015] |
Chr8:60853097 [GRCh38]
Chr8:61765656 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5300+1G>A |
single nucleotide variant |
CHARGE association [RCV003148406] |
Chr8:60848605 [GRCh38]
Chr8:61761164 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer) |
deletion |
CHARGE association [RCV002249353] |
Chr8:60852231..60852232 [GRCh38]
Chr8:61764790..61764791 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4816_4818delinsGGC (p.Cys1606Gly) |
indel |
not provided [RCV002251669] |
Chr8:60842018..60842020 [GRCh38]
Chr8:61754577..61754579 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser) |
single nucleotide variant |
CHARGE association [RCV003148235] |
Chr8:60742844 [GRCh38]
Chr8:61655403 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6746A>G (p.Asp2249Gly) |
single nucleotide variant |
not provided [RCV003156654] |
Chr8:60853471 [GRCh38]
Chr8:61766030 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8064del (p.Ile2688fs) |
deletion |
CHARGE association [RCV002227736] |
Chr8:60862640 [GRCh38]
Chr8:61775199 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6466G>A (p.Val2156Ile) |
single nucleotide variant |
not provided [RCV003235832] |
Chr8:60853191 [GRCh38]
Chr8:61765750 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs) |
deletion |
CHARGE association [RCV003233356] |
Chr8:60823905..60823908 [GRCh38]
Chr8:61736464..61736467 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7945G>A (p.Val2649Ile) |
single nucleotide variant |
not provided [RCV003144892] |
Chr8:60862310 [GRCh38]
Chr8:61774869 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs) |
deletion |
CHARGE association [RCV002279878] |
Chr8:60851042..60851045 [GRCh38]
Chr8:61763601..61763604 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8965G>A (p.Glu2989Lys) |
single nucleotide variant |
not provided [RCV002260814] |
Chr8:60865904 [GRCh38]
Chr8:61778463 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6116T>G (p.Leu2039Arg) |
single nucleotide variant |
not provided [RCV002275429] |
Chr8:60852841 [GRCh38]
Chr8:61765400 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1646A>G (p.Gln549Arg) |
single nucleotide variant |
not provided [RCV002275431] |
Chr8:60743078 [GRCh38]
Chr8:61655637 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3887A>T (p.Asp1296Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002366335] |
Chr8:60836181 [GRCh38]
Chr8:61748740 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8104C>T (p.Arg2702Cys) |
single nucleotide variant |
CHARGE association [RCV003101600]|not provided [RCV002278959] |
Chr8:60865043 [GRCh38]
Chr8:61777602 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3650A>G (p.Tyr1217Cys) |
single nucleotide variant |
not provided [RCV002275768] |
Chr8:60830449 [GRCh38]
Chr8:61743008 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2713C>G (p.Leu905Val) |
single nucleotide variant |
not provided [RCV002274720] |
Chr8:60821805 [GRCh38]
Chr8:61734364 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7180C>T (p.Leu2394Phe) |
single nucleotide variant |
CHARGE association [RCV003603118]|not provided [RCV002265217] |
Chr8:60856460 [GRCh38]
Chr8:61769019 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp) |
single nucleotide variant |
CHARGE association [RCV003603119]|not provided [RCV002265479] |
Chr8:60865067 [GRCh38]
Chr8:61777626 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8939A>G (p.Glu2980Gly) |
single nucleotide variant |
not provided [RCV002260855] |
Chr8:60865878 [GRCh38]
Chr8:61778437 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5109A>G (p.Thr1703=) |
single nucleotide variant |
not provided [RCV002293193] |
Chr8:60845308 [GRCh38]
Chr8:61757867 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3309_3310del (p.Val1103_Ile1104insTer) |
deletion |
CHARGE association [RCV002269136] |
Chr8:60823947..60823948 [GRCh38]
Chr8:61736506..61736507 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.643C>T (p.Gln215Ter) |
single nucleotide variant |
CHARGE association [RCV002269137] |
Chr8:60742075 [GRCh38]
Chr8:61654634 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7267A>G (p.Met2423Val) |
single nucleotide variant |
CHARGE association [RCV003774885]|not provided [RCV002276458] |
Chr8:60856547 [GRCh38]
Chr8:61769106 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5744G>A (p.Arg1915Gln) |
single nucleotide variant |
CHARGE association [RCV002274455] |
Chr8:60852097 [GRCh38]
Chr8:61764656 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8182G>A (p.Ala2728Thr) |
single nucleotide variant |
CHARGE association [RCV002288312] |
Chr8:60865121 [GRCh38]
Chr8:61777680 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7604G>A (p.Ser2535Asn) |
single nucleotide variant |
CHARGE association [RCV002289475] |
Chr8:60856884 [GRCh38]
Chr8:61769443 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5221C>T (p.Arg1741Cys) |
single nucleotide variant |
CHARGE association [RCV002291194] |
Chr8:60848525 [GRCh38]
Chr8:61761084 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4469T>C (p.Ile1490Thr) |
single nucleotide variant |
not provided [RCV002283249] |
Chr8:60838191 [GRCh38]
Chr8:61750750 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6740A>G (p.Asp2247Gly) |
single nucleotide variant |
not provided [RCV002286046] |
Chr8:60853465 [GRCh38]
Chr8:61766024 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8225A>G (p.Asn2742Ser) |
single nucleotide variant |
not provided [RCV002276287] |
Chr8:60865164 [GRCh38]
Chr8:61777723 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4594C>G (p.Gln1532Glu) |
single nucleotide variant |
not provided [RCV002276307] |
Chr8:60841704 [GRCh38]
Chr8:61754263 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3379-5C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002451796] |
Chr8:60828658 [GRCh38]
Chr8:61741217 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1673C>T (p.Pro558Leu) |
single nucleotide variant |
not provided [RCV002265511] |
Chr8:60781007 [GRCh38]
Chr8:61693566 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp) |
single nucleotide variant |
CHARGE association [RCV002481074]|not provided [RCV002265290] |
Chr8:60865527 [GRCh38]
Chr8:61778086 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3007T>A (p.Ser1003Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002435728] |
Chr8:60822552 [GRCh38]
Chr8:61735111 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3716C>T (p.Pro1239Leu) |
single nucleotide variant |
not provided [RCV002273386] |
Chr8:60830515 [GRCh38]
Chr8:61743074 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.619C>T (p.Gln207Ter) |
single nucleotide variant |
CHARGE association [RCV003236239] |
Chr8:60742051 [GRCh38]
Chr8:61654610 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3641A>G (p.Gln1214Arg) |
single nucleotide variant |
not provided [RCV002288098] |
Chr8:60830440 [GRCh38]
Chr8:61742999 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4882G>A (p.Gly1628Arg) |
single nucleotide variant |
not provided [RCV002263482] |
Chr8:60844895 [GRCh38]
Chr8:61757454 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1514A>G (p.Gln505Arg) |
single nucleotide variant |
not provided [RCV002260763] |
Chr8:60742946 [GRCh38]
Chr8:61655505 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2212G>C (p.Glu738Gln) |
single nucleotide variant |
not provided [RCV002265323] |
Chr8:60795101 [GRCh38]
Chr8:61707660 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5336C>T (p.Ala1779Val) |
single nucleotide variant |
CHARGE association [RCV003101523]|not provided [RCV002267259] |
Chr8:60849086 [GRCh38]
Chr8:61761645 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.4764T>G (p.Cys1588Trp) |
single nucleotide variant |
not provided [RCV002287150] |
Chr8:60841966 [GRCh38]
Chr8:61754525 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1931del (p.Lys644fs) |
deletion |
CHARGE association [RCV002269135] |
Chr8:60781261 [GRCh38]
Chr8:61693820 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7652C>A (p.Thr2551Asn) |
single nucleotide variant |
not provided [RCV002269430] |
Chr8:60860947 [GRCh38]
Chr8:61773506 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8094del (p.Met2699fs) |
deletion |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV002291130] |
Chr8:60865033 [GRCh38]
Chr8:61777592 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5935T>C (p.Ser1979Pro) |
single nucleotide variant |
CHARGE association [RCV002288416] |
Chr8:60852538 [GRCh38]
Chr8:61765097 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2377G>T (p.Glu793Ter) |
single nucleotide variant |
CHARGE association [RCV002289419] |
Chr8:60801528 [GRCh38]
Chr8:61714087 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6236del (p.Lys2079fs) |
deletion |
CHARGE association [RCV002290130] |
Chr8:60852960 [GRCh38]
Chr8:61765519 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4409G>A (p.Gly1470Asp) |
single nucleotide variant |
CHARGE association [RCV002290347] |
Chr8:60838131 [GRCh38]
Chr8:61750690 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6045_6046del (p.Phe2015fs) |
deletion |
Iris coloboma [RCV002291343] |
Chr8:60852648..60852649 [GRCh38]
Chr8:61765207..61765208 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6691T>C (p.Ser2231Pro) |
single nucleotide variant |
not provided [RCV002293724] |
Chr8:60853416 [GRCh38]
Chr8:61765975 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4547C>T (p.Ala1516Val) |
single nucleotide variant |
not provided [RCV003236044] |
Chr8:60841657 [GRCh38]
Chr8:61754216 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg) |
single nucleotide variant |
CHARGE association [RCV003097696]|not provided [RCV002285957] |
Chr8:60856146 [GRCh38]
Chr8:61768705 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2352dup (p.Asn785fs) |
duplication |
CHARGE association [RCV002287604] |
Chr8:60800499..60800500 [GRCh38]
Chr8:61713058..61713059 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.722A>G (p.Gln241Arg) |
single nucleotide variant |
not provided [RCV002285829] |
Chr8:60742154 [GRCh38]
Chr8:61654713 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3994C>T (p.Pro1332Ser) |
single nucleotide variant |
not provided [RCV002265086] |
Chr8:60836821 [GRCh38]
Chr8:61749380 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4574T>C (p.Leu1525Ser) |
single nucleotide variant |
not provided [RCV002260846] |
Chr8:60841684 [GRCh38]
Chr8:61754243 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.238A>G (p.Met80Val) |
single nucleotide variant |
not provided [RCV002291460] |
Chr8:60741670 [GRCh38]
Chr8:61654229 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.232C>T (p.Gln78Ter) |
single nucleotide variant |
CHARGE association [RCV002269145] |
Chr8:60741664 [GRCh38]
Chr8:61654223 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3363C>T (p.Leu1121=) |
single nucleotide variant |
Inborn genetic diseases [RCV002454775] |
Chr8:60824001 [GRCh38]
Chr8:61736560 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter) |
single nucleotide variant |
CHARGE association [RCV002283658] |
Chr8:60845008 [GRCh38]
Chr8:61757567 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8077-4C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002419379] |
Chr8:60865012 [GRCh38]
Chr8:61777571 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3779-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002351123] |
Chr8:60836071 [GRCh38]
Chr8:61748630 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8871T>A (p.Asp2957Glu) |
single nucleotide variant |
not provided [RCV002279076] |
Chr8:60865810 [GRCh38]
Chr8:61778369 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6325G>T (p.Val2109Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003258293] |
Chr8:60853050 [GRCh38]
Chr8:61765609 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.965T>C (p.Leu322Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003260743] |
Chr8:60742397 [GRCh38]
Chr8:61654956 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7155G>T (p.Gln2385His) |
single nucleotide variant |
not provided [RCV003156500] |
Chr8:60856193 [GRCh38]
Chr8:61768752 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2377-2A>G |
single nucleotide variant |
not provided [RCV003129157] |
Chr8:60801526 [GRCh38]
Chr8:61714085 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1699G>C (p.Val567Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002414680] |
Chr8:60781033 [GRCh38]
Chr8:61693592 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6821C>T (p.Ala2274Val) |
single nucleotide variant |
CHARGE association [RCV002303391] |
Chr8:60854408 [GRCh38]
Chr8:61766967 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro) |
single nucleotide variant |
CHARGE association [RCV002471977] |
Chr8:60865409 [GRCh38]
Chr8:61777968 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5720C>T (p.Ser1907Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002347686] |
Chr8:60852073 [GRCh38]
Chr8:61764632 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2024A>G (p.Lys675Arg) |
single nucleotide variant |
not provided [RCV002469848] |
Chr8:60781358 [GRCh38]
Chr8:61693917 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter) |
single nucleotide variant |
CHARGE association [RCV002468821] |
Chr8:60743095 [GRCh38]
Chr8:61655654 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6018del (p.Lys2006fs) |
deletion |
not provided [RCV002474198] |
Chr8:60852616 [GRCh38]
Chr8:61765175 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3403A>G (p.Thr1135Ala) |
single nucleotide variant |
not provided [RCV002467267] |
Chr8:60828687 [GRCh38]
Chr8:61741246 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5693T>G (p.Leu1898Ter) |
single nucleotide variant |
not provided [RCV002505956] |
Chr8:60852046 [GRCh38]
Chr8:61764605 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser) |
single nucleotide variant |
CHARGE association [RCV002471985] |
Chr8:60742978 [GRCh38]
Chr8:61655537 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser) |
single nucleotide variant |
CHARGE association [RCV002471999] |
Chr8:60801549 [GRCh38]
Chr8:61714108 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3158G>A (p.Arg1053His) |
single nucleotide variant |
not provided [RCV002474152] |
Chr8:60822703 [GRCh38]
Chr8:61735262 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2196A>G (p.Pro732=) |
single nucleotide variant |
CHARGE association [RCV002750493] |
Chr8:60795085 [GRCh38]
Chr8:61707644 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6208dup (p.His2070fs) |
duplication |
CHARGE association [RCV003152857] |
Chr8:60852931..60852932 [GRCh38]
Chr8:61765490..61765491 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4160A>G (p.Asp1387Gly) |
single nucleotide variant |
CHARGE association [RCV002303782] |
Chr8:60836987 [GRCh38]
Chr8:61749546 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6629A>G (p.Glu2210Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002364632] |
Chr8:60853354 [GRCh38]
Chr8:61765913 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3937T>C (p.Ser1313Pro) |
single nucleotide variant |
CHARGE association [RCV003234865] |
Chr8:60836231 [GRCh38]
Chr8:61748790 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8490T>C (p.Ala2830=) |
single nucleotide variant |
Inborn genetic diseases [RCV002447671] |
Chr8:60865429 [GRCh38]
Chr8:61777988 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8209T>A (p.Ser2737Thr) |
single nucleotide variant |
CHARGE association [RCV002304551] |
Chr8:60865148 [GRCh38]
Chr8:61777707 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5452C>A (p.Leu1818Met) |
single nucleotide variant |
CHARGE association [RCV002304973] |
Chr8:60850540 [GRCh38]
Chr8:61763099 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4784A>G (p.Gln1595Arg) |
single nucleotide variant |
not provided [RCV002301058] |
Chr8:60841986 [GRCh38]
Chr8:61754545 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1630C>T (p.Pro544Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002401279] |
Chr8:60743062 [GRCh38]
Chr8:61655621 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2413del (p.Ile805fs) |
deletion |
Inborn genetic diseases [RCV002450353] |
Chr8:60801559 [GRCh38]
Chr8:61714118 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6122C>T (p.Ser2041Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002360287] |
Chr8:60852847 [GRCh38]
Chr8:61765406 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3964C>G (p.Leu1322Val) |
single nucleotide variant |
CHARGE association [RCV002299876] |
Chr8:60836258 [GRCh38]
Chr8:61748817 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.772C>T (p.His258Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002400724] |
Chr8:60742204 [GRCh38]
Chr8:61654763 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8946C>T (p.Asp2982=) |
single nucleotide variant |
not provided [RCV002300776] |
Chr8:60865885 [GRCh38]
Chr8:61778444 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8844A>C (p.Lys2948Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002373813] |
Chr8:60865783 [GRCh38]
Chr8:61778342 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6109C>A (p.Pro2037Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002360200] |
Chr8:60852834 [GRCh38]
Chr8:61765393 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2295C>G (p.Phe765Leu) |
single nucleotide variant |
CHARGE association [RCV003098783]|Inborn genetic diseases [RCV002457505] |
Chr8:60800444 [GRCh38]
Chr8:61713003 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5638G>A (p.Glu1880Lys) |
single nucleotide variant |
CHARGE association [RCV002294998] |
Chr8:60851292 [GRCh38]
Chr8:61763851 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5578A>G (p.Thr1860Ala) |
single nucleotide variant |
CHARGE association [RCV002296089] |
Chr8:60851075 [GRCh38]
Chr8:61763634 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4645-1G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002335043] |
Chr8:60841846 [GRCh38]
Chr8:61754405 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu) |
single nucleotide variant |
CHARGE association [RCV003497958]|Inborn genetic diseases [RCV002407446] |
Chr8:60781069 [GRCh38]
Chr8:61693628 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2644G>A (p.Val882Met) |
single nucleotide variant |
not provided [RCV002301051] |
Chr8:60820037 [GRCh38]
Chr8:61732596 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3848A>G (p.Gln1283Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002364098] |
Chr8:60836142 [GRCh38]
Chr8:61748701 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3839_3840del (p.Phe1280fs) |
deletion |
Inborn genetic diseases [RCV002355431] |
Chr8:60836131..60836132 [GRCh38]
Chr8:61748690..61748691 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7601T>C (p.Leu2534Ser) |
single nucleotide variant |
CHARGE association [RCV002299481] |
Chr8:60856881 [GRCh38]
Chr8:61769440 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7631C>T (p.Ala2544Val) |
single nucleotide variant |
CHARGE association [RCV002296123] |
Chr8:60860926 [GRCh38]
Chr8:61773485 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3464G>T (p.Arg1155Leu) |
single nucleotide variant |
CHARGE association [RCV002294974] |
Chr8:60828748 [GRCh38]
Chr8:61741307 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8652C>G (p.Pro2884=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371229] |
Chr8:60865591 [GRCh38]
Chr8:61778150 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3461G>T (p.Ser1154Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002337481] |
Chr8:60828745 [GRCh38]
Chr8:61741304 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8295G>C (p.Gln2765His) |
single nucleotide variant |
Inborn genetic diseases [RCV002430291] |
Chr8:60865234 [GRCh38]
Chr8:61777793 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6588C>T (p.Thr2196=) |
single nucleotide variant |
CHARGE association [RCV003098300]|Inborn genetic diseases [RCV002364519] |
Chr8:60853313 [GRCh38]
Chr8:61765872 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.325C>T (p.Pro109Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002324950] |
Chr8:60741757 [GRCh38]
Chr8:61654316 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4187C>T (p.Ala1396Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002327746] |
Chr8:60837669 [GRCh38]
Chr8:61750228 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5569T>C (p.Tyr1857His) |
single nucleotide variant |
CHARGE association [RCV002294777]|Inborn genetic diseases [RCV003097993] |
Chr8:60851066 [GRCh38]
Chr8:61763625 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5C>G (p.Ala2Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002357971] |
Chr8:60741437 [GRCh38]
Chr8:61653996 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7608+6T>C |
single nucleotide variant |
not provided [RCV002308950] |
Chr8:60856894 [GRCh38]
Chr8:61769453 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7514G>A (p.Gly2505Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002393791] |
Chr8:60856794 [GRCh38]
Chr8:61769353 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6603G>C (p.Lys2201Asn) |
single nucleotide variant |
CHARGE association [RCV002296657] |
Chr8:60853328 [GRCh38]
Chr8:61765887 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7250G>C (p.Arg2417Thr) |
single nucleotide variant |
CHARGE association [RCV002301874] |
Chr8:60856530 [GRCh38]
Chr8:61769089 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2399C>T (p.Pro800Leu) |
single nucleotide variant |
CHARGE association [RCV003098850]|Inborn genetic diseases [RCV002430658] |
Chr8:60801550 [GRCh38]
Chr8:61714109 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6597C>T (p.Ser2199=) |
single nucleotide variant |
CHARGE association [RCV003776283]|Inborn genetic diseases [RCV002364550] |
Chr8:60853322 [GRCh38]
Chr8:61765881 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1654C>T (p.Pro552Ser) |
single nucleotide variant |
not provided [RCV002300754] |
Chr8:60743086 [GRCh38]
Chr8:61655645 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4076G>A (p.Arg1359Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002323076] |
Chr8:60836903 [GRCh38]
Chr8:61749462 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1466A>C (p.Gln489Pro) |
single nucleotide variant |
CHARGE association [RCV003095197]|Inborn genetic diseases [RCV002396827] |
Chr8:60742898 [GRCh38]
Chr8:61655457 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6426del (p.Ser2142_Leu2143insTer) |
deletion |
Inborn genetic diseases [RCV002361698] |
Chr8:60853150 [GRCh38]
Chr8:61765709 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2958-3A>G |
single nucleotide variant |
CHD7-related condition [RCV003403836]|Inborn genetic diseases [RCV002441935] |
Chr8:60822500 [GRCh38]
Chr8:61735059 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8700G>A (p.Pro2900=) |
single nucleotide variant |
CHARGE association [RCV003100005]|Inborn genetic diseases [RCV002373425] |
Chr8:60865639 [GRCh38]
Chr8:61778198 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.4531A>G (p.Lys1511Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002340055] |
Chr8:60838253 [GRCh38]
Chr8:61750812 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5166C>T (p.Phe1722=) |
single nucleotide variant |
CHARGE association [RCV003497955]|Inborn genetic diseases [RCV002338342] |
Chr8:60845365 [GRCh38]
Chr8:61757924 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3372G>A (p.Met1124Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002451757] |
Chr8:60824010 [GRCh38]
Chr8:61736569 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6394G>A (p.Ala2132Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002354106] |
Chr8:60853119 [GRCh38]
Chr8:61765678 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1632C>T (p.Pro544=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401315] |
Chr8:60743064 [GRCh38]
Chr8:61655623 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.785C>T (p.Thr262Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002412229] |
Chr8:60742217 [GRCh38]
Chr8:61654776 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8947T>G (p.Ser2983Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002376190] |
Chr8:60865886 [GRCh38]
Chr8:61778445 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8717C>T (p.Ser2906Phe) |
single nucleotide variant |
not provided [RCV002305939] |
Chr8:60865656 [GRCh38]
Chr8:61778215 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5210+5G>C |
single nucleotide variant |
CHARGE association [RCV003152793]|not provided [RCV002306043] |
Chr8:60845414 [GRCh38]
Chr8:61757973 [GRCh37]
Chr8:8q12.2 |
likely pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.5735G>T (p.Arg1912Leu) |
single nucleotide variant |
CHARGE association [RCV002299002] |
Chr8:60852088 [GRCh38]
Chr8:61764647 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5284G>C (p.Glu1762Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002344477] |
Chr8:60848588 [GRCh38]
Chr8:61761147 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6826A>T (p.Met2276Leu) |
single nucleotide variant |
CHARGE association [RCV002303392] |
Chr8:60854413 [GRCh38]
Chr8:61766972 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.530C>G (p.Pro177Arg) |
single nucleotide variant |
CHARGE association [RCV003776084]|Inborn genetic diseases [RCV002344637] |
Chr8:60741962 [GRCh38]
Chr8:61654521 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8259G>A (p.Met2753Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002412554] |
Chr8:60865198 [GRCh38]
Chr8:61777757 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8751G>A (p.Thr2917=) |
single nucleotide variant |
Inborn genetic diseases [RCV002373558] |
Chr8:60865690 [GRCh38]
Chr8:61778249 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys) |
single nucleotide variant |
CHARGE association [RCV002295824] |
Chr8:60856464 [GRCh38]
Chr8:61769023 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4474C>G (p.Leu1492Val) |
single nucleotide variant |
CHARGE association [RCV002303059] |
Chr8:60838196 [GRCh38]
Chr8:61750755 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2682A>G (p.Thr894=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428909] |
Chr8:60820075 [GRCh38]
Chr8:61732634 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4644+5G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002330440] |
Chr8:60841759 [GRCh38]
Chr8:61754318 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5251del (p.Glu1751fs) |
deletion |
Inborn genetic diseases [RCV002340955] |
Chr8:60848555 [GRCh38]
Chr8:61761114 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3504T>G (p.Asp1168Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002459173] |
Chr8:60828788 [GRCh38]
Chr8:61741347 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5701C>T (p.Leu1901Phe) |
single nucleotide variant |
not provided [RCV002306339] |
Chr8:60852054 [GRCh38]
Chr8:61764613 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1840G>A (p.Gly614Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002412839] |
Chr8:60781174 [GRCh38]
Chr8:61693733 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1674G>A (p.Pro558=) |
single nucleotide variant |
CHARGE association [RCV003100785]|Inborn genetic diseases [RCV002405920] |
Chr8:60781008 [GRCh38]
Chr8:61693567 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6795G>A (p.Gly2265=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369438] |
Chr8:60854382 [GRCh38]
Chr8:61766941 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5575C>A (p.Pro1859Thr) |
single nucleotide variant |
CHARGE association [RCV002302100] |
Chr8:60851072 [GRCh38]
Chr8:61763631 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2544_2546delinsTG (p.Lys848fs) |
indel |
Inborn genetic diseases [RCV002455802] |
Chr8:60816432..60816434 [GRCh38]
Chr8:61728991..61728993 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3996A>G (p.Pro1332=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321150] |
Chr8:60836823 [GRCh38]
Chr8:61749382 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4707G>A (p.Lys1569=) |
single nucleotide variant |
CHARGE association [RCV002881022] |
Chr8:60841909 [GRCh38]
Chr8:61754468 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4666C>G (p.Pro1556Ala) |
single nucleotide variant |
not provided [RCV002462389] |
Chr8:60841868 [GRCh38]
Chr8:61754427 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3858C>T (p.Ile1286=) |
single nucleotide variant |
CHARGE association [RCV002751127] |
Chr8:60836152 [GRCh38]
Chr8:61748711 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8383G>A (p.Val2795Met) |
single nucleotide variant |
CHARGE association [RCV002774921] |
Chr8:60865322 [GRCh38]
Chr8:61777881 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1188G>A (p.Met396Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002818106] |
Chr8:60742620 [GRCh38]
Chr8:61655179 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2238+7C>T |
single nucleotide variant |
CHARGE association [RCV002967972] |
Chr8:60795134 [GRCh38]
Chr8:61707693 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser) |
single nucleotide variant |
CHARGE association [RCV002614998] |
Chr8:60850535 [GRCh38]
Chr8:61763094 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3657A>T (p.Arg1219=) |
single nucleotide variant |
CHARGE association [RCV002775858] |
Chr8:60830456 [GRCh38]
Chr8:61743015 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4850+11C>T |
single nucleotide variant |
CHARGE association [RCV002994759] |
Chr8:60842063 [GRCh38]
Chr8:61754622 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5202del (p.Cys1735fs) |
deletion |
CHARGE association [RCV002512486] |
Chr8:60845401 [GRCh38]
Chr8:61757960 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2681C>A (p.Thr894Lys) |
single nucleotide variant |
CHARGE association [RCV002681968] |
Chr8:60820074 [GRCh38]
Chr8:61732633 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2376+8C>T |
single nucleotide variant |
CHARGE association [RCV002838579] |
Chr8:60800533 [GRCh38]
Chr8:61713092 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8554G>A (p.Asp2852Asn) |
single nucleotide variant |
CHARGE association [RCV003074937] |
Chr8:60865493 [GRCh38]
Chr8:61778052 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1054G>A (p.Gly352Arg) |
single nucleotide variant |
CHARGE association [RCV002614214] |
Chr8:60742486 [GRCh38]
Chr8:61655045 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2498+14G>C |
single nucleotide variant |
CHARGE association [RCV002858311] |
Chr8:60808286 [GRCh38]
Chr8:61720845 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2957+15T>A |
single nucleotide variant |
CHARGE association [RCV002775155] |
Chr8:60822160 [GRCh38]
Chr8:61734719 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7006A>C (p.Arg2336=) |
single nucleotide variant |
CHARGE association [RCV002862910] |
Chr8:60856044 [GRCh38]
Chr8:61768603 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.604C>A (p.Gln202Lys) |
single nucleotide variant |
CHARGE association [RCV002970810] |
Chr8:60742036 [GRCh38]
Chr8:61654595 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6898C>A (p.Leu2300Ile) |
single nucleotide variant |
CHARGE association [RCV002816176] |
Chr8:60854485 [GRCh38]
Chr8:61767044 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del) |
deletion |
CHARGE association [RCV002730431]|not provided [RCV003228096] |
Chr8:60865888..60865896 [GRCh38]
Chr8:61778447..61778455 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.847G>A (p.Gly283Arg) |
single nucleotide variant |
CHARGE association [RCV002613644] |
Chr8:60742279 [GRCh38]
Chr8:61654838 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5666-5C>T |
single nucleotide variant |
CHARGE association [RCV002858511] |
Chr8:60852014 [GRCh38]
Chr8:61764573 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7245C>T (p.Ala2415=) |
single nucleotide variant |
CHARGE association [RCV002839012] |
Chr8:60856525 [GRCh38]
Chr8:61769084 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.895G>T (p.Val299Phe) |
single nucleotide variant |
CHARGE association [RCV002618141] |
Chr8:60742327 [GRCh38]
Chr8:61654886 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5433T>C (p.Ala1811=) |
single nucleotide variant |
CHARGE association [RCV002995898] |
Chr8:60850521 [GRCh38]
Chr8:61763080 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1853A>G (p.Asp618Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002864800] |
Chr8:60781187 [GRCh38]
Chr8:61693746 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5241C>A (p.Tyr1747Ter) |
single nucleotide variant |
CHARGE association [RCV003013260] |
Chr8:60848545 [GRCh38]
Chr8:61761104 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.651A>G (p.Gln217=) |
single nucleotide variant |
CHARGE association [RCV002882118] |
Chr8:60742083 [GRCh38]
Chr8:61654642 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3206G>C (p.Arg1069Pro) |
single nucleotide variant |
CHARGE association [RCV003097587] |
Chr8:60823844 [GRCh38]
Chr8:61736403 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5849C>T (p.Ala1950Val) |
single nucleotide variant |
not provided [RCV002462430] |
Chr8:60852202 [GRCh38]
Chr8:61764761 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8866A>G (p.Ser2956Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002732932] |
Chr8:60865805 [GRCh38]
Chr8:61778364 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.892A>C (p.Thr298Pro) |
single nucleotide variant |
CHARGE association [RCV002618140] |
Chr8:60742324 [GRCh38]
Chr8:61654883 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4686C>A (p.Thr1562=) |
single nucleotide variant |
CHARGE association [RCV002947283] |
Chr8:60841888 [GRCh38]
Chr8:61754447 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.546C>G (p.His182Gln) |
single nucleotide variant |
CHARGE association [RCV002975451]|not provided [RCV003443099] |
Chr8:60741978 [GRCh38]
Chr8:61654537 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8976C>T (p.Asn2992=) |
single nucleotide variant |
CHARGE association [RCV003017725] |
Chr8:60865915 [GRCh38]
Chr8:61778474 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7048A>G (p.Thr2350Ala) |
single nucleotide variant |
CHARGE association [RCV002908043] |
Chr8:60856086 [GRCh38]
Chr8:61768645 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly) |
single nucleotide variant |
CHD7-related condition [RCV003395480]|not provided [RCV002461656] |
Chr8:60848577 [GRCh38]
Chr8:61761136 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7797T>A (p.Pro2599=) |
single nucleotide variant |
CHARGE association [RCV002756327] |
Chr8:60861092 [GRCh38]
Chr8:61773651 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1394C>T (p.Ser465Phe) |
single nucleotide variant |
CHARGE association [RCV002996515] |
Chr8:60742826 [GRCh38]
Chr8:61655385 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5827C>T (p.Arg1943Trp) |
single nucleotide variant |
CHARGE association [RCV002904999] |
Chr8:60852180 [GRCh38]
Chr8:61764739 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.201A>C (p.Thr67=) |
single nucleotide variant |
CHARGE association [RCV002866070] |
Chr8:60741633 [GRCh38]
Chr8:61654192 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8846A>T (p.Asp2949Val) |
single nucleotide variant |
CHARGE association [RCV002861324] |
Chr8:60865785 [GRCh38]
Chr8:61778344 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7165-18G>A |
single nucleotide variant |
CHARGE association [RCV003074117] |
Chr8:60856427 [GRCh38]
Chr8:61768986 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu) |
single nucleotide variant |
CHARGE association [RCV002681551]|not provided [RCV003491140] |
Chr8:60865776 [GRCh38]
Chr8:61778335 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.238A>T (p.Met80Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002732604] |
Chr8:60741670 [GRCh38]
Chr8:61654229 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3437G>C (p.Ser1146Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002729170] |
Chr8:60828721 [GRCh38]
Chr8:61741280 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1819G>A (p.Val607Ile) |
single nucleotide variant |
CHARGE association [RCV002751068] |
Chr8:60781153 [GRCh38]
Chr8:61693712 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6731A>G (p.Lys2244Arg) |
single nucleotide variant |
CHARGE association [RCV003074884] |
Chr8:60853456 [GRCh38]
Chr8:61766015 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1595del (p.Pro532fs) |
deletion |
CHARGE association [RCV003032844] |
Chr8:60743025 [GRCh38]
Chr8:61655584 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5414A>G (p.Lys1805Arg) |
single nucleotide variant |
CHARGE association [RCV003074236] |
Chr8:60850502 [GRCh38]
Chr8:61763061 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.588G>C (p.Gly196=) |
single nucleotide variant |
CHARGE association [RCV002995740] |
Chr8:60742020 [GRCh38]
Chr8:61654579 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4020A>G (p.Val1340=) |
single nucleotide variant |
CHARGE association [RCV002838370] |
Chr8:60836847 [GRCh38]
Chr8:61749406 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.786T>C (p.Thr262=) |
single nucleotide variant |
CHARGE association [RCV002881537] |
Chr8:60742218 [GRCh38]
Chr8:61654777 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1032A>G (p.Val344=) |
single nucleotide variant |
CHARGE association [RCV002971965] |
Chr8:60742464 [GRCh38]
Chr8:61655023 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2930del (p.Asn977fs) |
deletion |
CHARGE association [RCV002838451] |
Chr8:60822116 [GRCh38]
Chr8:61734675 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5464G>A (p.Gly1822Ser) |
single nucleotide variant |
CHARGE association [RCV002903036] |
Chr8:60850552 [GRCh38]
Chr8:61763111 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1321G>T (p.Gly441Cys) |
single nucleotide variant |
CHARGE association [RCV002751193] |
Chr8:60742753 [GRCh38]
Chr8:61655312 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4354-6A>G |
single nucleotide variant |
CHARGE association [RCV002512432] |
Chr8:60838070 [GRCh38]
Chr8:61750629 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4515A>G (p.Lys1505=) |
single nucleotide variant |
CHARGE association [RCV003014337] |
Chr8:60838237 [GRCh38]
Chr8:61750796 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.328_329insGGAGG (p.Val110fs) |
insertion |
CHARGE association [RCV002862633] |
Chr8:60741759..60741760 [GRCh38]
Chr8:61654318..61654319 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1971A>G (p.Lys657=) |
single nucleotide variant |
CHARGE association [RCV002613494] |
Chr8:60781305 [GRCh38]
Chr8:61693864 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1337G>A (p.Gly446Glu) |
single nucleotide variant |
CHARGE association [RCV002755078] |
Chr8:60742769 [GRCh38]
Chr8:61655328 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7426dup (p.Asp2476fs) |
duplication |
not provided [RCV002512360] |
Chr8:60856705..60856706 [GRCh38]
Chr8:61769264..61769265 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8909T>C (p.Leu2970Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002729171] |
Chr8:60865848 [GRCh38]
Chr8:61778407 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1197G>A (p.Met399Ile) |
single nucleotide variant |
CHARGE association [RCV002991494] |
Chr8:60742629 [GRCh38]
Chr8:61655188 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5568A>G (p.Glu1856=) |
single nucleotide variant |
CHARGE association [RCV003095554] |
Chr8:60851065 [GRCh38]
Chr8:61763624 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.879T>A (p.Ser293Arg) |
single nucleotide variant |
not provided [RCV002462577] |
Chr8:60742311 [GRCh38]
Chr8:61654870 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5210+16G>A |
single nucleotide variant |
CHARGE association [RCV002907928] |
Chr8:60845425 [GRCh38]
Chr8:61757984 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8869G>A (p.Asp2957Asn) |
single nucleotide variant |
CHARGE association [RCV002685655] |
Chr8:60865808 [GRCh38]
Chr8:61778367 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1708A>G (p.Met570Val) |
single nucleotide variant |
CHARGE association [RCV002615868] |
Chr8:60781042 [GRCh38]
Chr8:61693601 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4796A>G (p.Gln1599Arg) |
single nucleotide variant |
CHARGE association [RCV002775456] |
Chr8:60841998 [GRCh38]
Chr8:61754557 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.665A>C (p.Gln222Pro) |
single nucleotide variant |
CHARGE association [RCV002903380] |
Chr8:60742097 [GRCh38]
Chr8:61654656 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4860G>A (p.Arg1620=) |
single nucleotide variant |
CHARGE association [RCV002904921] |
Chr8:60844873 [GRCh38]
Chr8:61757432 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7345A>G (p.Arg2449Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002778284] |
Chr8:60856625 [GRCh38]
Chr8:61769184 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5404+2T>C |
single nucleotide variant |
CHARGE association [RCV002750798] |
Chr8:60849156 [GRCh38]
Chr8:61761715 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1952A>C (p.Lys651Thr) |
single nucleotide variant |
CHARGE association [RCV002903437] |
Chr8:60781286 [GRCh38]
Chr8:61693845 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.996A>G (p.Leu332=) |
single nucleotide variant |
CHARGE association [RCV002995290] |
Chr8:60742428 [GRCh38]
Chr8:61654987 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4125C>T (p.Leu1375=) |
single nucleotide variant |
CHARGE association [RCV002908086] |
Chr8:60836952 [GRCh38]
Chr8:61749511 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4505C>T (p.Ser1502Leu) |
single nucleotide variant |
CHARGE association [RCV002771434] |
Chr8:60838227 [GRCh38]
Chr8:61750786 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6936+7A>T |
single nucleotide variant |
CHARGE association [RCV002863841] |
Chr8:60854530 [GRCh38]
Chr8:61767089 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.106C>T (p.Pro36Ser) |
single nucleotide variant |
CHARGE association [RCV002771493] |
Chr8:60741538 [GRCh38]
Chr8:61654097 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1671C>T (p.Ser557=) |
single nucleotide variant |
CHARGE association [RCV002776528] |
Chr8:60781005 [GRCh38]
Chr8:61693564 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7713T>C (p.Val2571=) |
single nucleotide variant |
CHARGE association [RCV002756292] |
Chr8:60861008 [GRCh38]
Chr8:61773567 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7444A>G (p.Met2482Val) |
single nucleotide variant |
CHARGE association [RCV002842441] |
Chr8:60856724 [GRCh38]
Chr8:61769283 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4346C>T (p.Thr1449Ile) |
single nucleotide variant |
CHARGE association [RCV002910172] |
Chr8:60837828 [GRCh38]
Chr8:61750387 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2613+9_2613+10dup |
duplication |
CHARGE association [RCV002953476] |
Chr8:60816508..60816509 [GRCh38]
Chr8:61729067..61729068 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1722T>G (p.Ser574Arg) |
single nucleotide variant |
CHARGE association [RCV002785841] |
Chr8:60781056 [GRCh38]
Chr8:61693615 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1865G>C (p.Gly622Ala) |
single nucleotide variant |
CHARGE association [RCV002825296] |
Chr8:60781199 [GRCh38]
Chr8:61693758 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6776-5C>A |
single nucleotide variant |
CHARGE association [RCV003081759] |
Chr8:60854358 [GRCh38]
Chr8:61766917 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4879C>T (p.His1627Tyr) |
single nucleotide variant |
CHARGE association [RCV002622866] |
Chr8:60844892 [GRCh38]
Chr8:61757451 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4964A>G (p.Lys1655Arg) |
single nucleotide variant |
CHARGE association [RCV002913766] |
Chr8:60844977 [GRCh38]
Chr8:61757536 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.853G>A (p.Val285Ile) |
single nucleotide variant |
CHARGE association [RCV002785512] |
Chr8:60742285 [GRCh38]
Chr8:61654844 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5269G>A (p.Ala1757Thr) |
single nucleotide variant |
CHARGE association [RCV002691084] |
Chr8:60848573 [GRCh38]
Chr8:61761132 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4028A>G (p.Asn1343Ser) |
single nucleotide variant |
CHARGE association [RCV002800168] |
Chr8:60836855 [GRCh38]
Chr8:61749414 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2220T>A (p.Asp740Glu) |
single nucleotide variant |
CHARGE association [RCV002927057] |
Chr8:60795109 [GRCh38]
Chr8:61707668 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3069C>G (p.Ala1023=) |
single nucleotide variant |
CHARGE association [RCV002825427] |
Chr8:60822614 [GRCh38]
Chr8:61735173 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5405-6G>A |
single nucleotide variant |
CHARGE association [RCV002620221] |
Chr8:60850487 [GRCh38]
Chr8:61763046 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.398_401del (p.Arg133fs) |
deletion |
CHARGE association [RCV003039179] |
Chr8:60741829..60741832 [GRCh38]
Chr8:61654388..61654391 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.480C>A (p.Tyr160Ter) |
single nucleotide variant |
CHARGE association [RCV003054183] |
Chr8:60741912 [GRCh38]
Chr8:61654471 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6332G>A (p.Arg2111Gln) |
single nucleotide variant |
CHARGE association [RCV002914029] |
Chr8:60853057 [GRCh38]
Chr8:61765616 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7616C>T (p.Ala2539Val) |
single nucleotide variant |
CHARGE association [RCV002593134] |
Chr8:60860911 [GRCh38]
Chr8:61773470 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4800C>T (p.Gly1600=) |
single nucleotide variant |
CHARGE association [RCV003077348] |
Chr8:60842002 [GRCh38]
Chr8:61754561 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2684del (p.Asp895fs) |
deletion |
CHARGE association [RCV003037691] |
Chr8:60820077 [GRCh38]
Chr8:61732636 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2449T>C (p.Ser817Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002925855] |
Chr8:60808223 [GRCh38]
Chr8:61720782 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8516G>A (p.Ser2839Asn) |
single nucleotide variant |
CHARGE association [RCV003002863] |
Chr8:60865455 [GRCh38]
Chr8:61778014 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1349T>G (p.Met450Arg) |
single nucleotide variant |
CHARGE association [RCV002927700]|Inborn genetic diseases [RCV003274079] |
Chr8:60742781 [GRCh38]
Chr8:61655340 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7900A>G (p.Asn2634Asp) |
single nucleotide variant |
CHARGE association [RCV002953680] |
Chr8:60862265 [GRCh38]
Chr8:61774824 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4737G>C (p.Leu1579Phe) |
single nucleotide variant |
CHARGE association [RCV002867972] |
Chr8:60841939 [GRCh38]
Chr8:61754498 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8359G>A (p.Gly2787Ser) |
single nucleotide variant |
CHARGE association [RCV003079089] |
Chr8:60865298 [GRCh38]
Chr8:61777857 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.635A>G (p.Gln212Arg) |
single nucleotide variant |
not provided [RCV002510121] |
Chr8:60742067 [GRCh38]
Chr8:61654626 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2423G>A (p.Ser808Asn) |
single nucleotide variant |
CHARGE association [RCV002590624] |
Chr8:60801574 [GRCh38]
Chr8:61714133 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.451C>G (p.Gln151Glu) |
single nucleotide variant |
not provided [RCV002510145] |
Chr8:60741883 [GRCh38]
Chr8:61654442 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3651T>C (p.Tyr1217=) |
single nucleotide variant |
CHARGE association [RCV003079743] |
Chr8:60830450 [GRCh38]
Chr8:61743009 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.462C>G (p.Asp154Glu) |
single nucleotide variant |
CHARGE association [RCV002760901] |
Chr8:60741894 [GRCh38]
Chr8:61654453 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5723C>A (p.Thr1908Asn) |
single nucleotide variant |
CHARGE association [RCV003019180]|not provided [RCV003883862] |
Chr8:60852076 [GRCh38]
Chr8:61764635 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5589G>T (p.Pro1863=) |
single nucleotide variant |
CHARGE association [RCV003100310] |
Chr8:60851086 [GRCh38]
Chr8:61763645 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4779T>C (p.Arg1593=) |
single nucleotide variant |
CHARGE association [RCV002885420] |
Chr8:60841981 [GRCh38]
Chr8:61754540 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8310A>G (p.Ala2770=) |
single nucleotide variant |
CHARGE association [RCV002886418] |
Chr8:60865249 [GRCh38]
Chr8:61777808 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5573A>T (p.Lys1858Ile) |
single nucleotide variant |
CHARGE association [RCV003078467] |
Chr8:60851070 [GRCh38]
Chr8:61763629 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.209A>G (p.Asp70Gly) |
single nucleotide variant |
CHARGE association [RCV003100296] |
Chr8:60741641 [GRCh38]
Chr8:61654200 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4951C>G (p.Leu1651Val) |
single nucleotide variant |
CHARGE association [RCV002706187] |
Chr8:60844964 [GRCh38]
Chr8:61757523 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7233C>A (p.Ala2411=) |
single nucleotide variant |
CHARGE association [RCV002706209] |
Chr8:60856513 [GRCh38]
Chr8:61769072 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys) |
single nucleotide variant |
CHARGE association [RCV002619920] |
Chr8:60781213 [GRCh38]
Chr8:61693772 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3031T>C (p.Tyr1011His) |
single nucleotide variant |
CHARGE association [RCV003037829] |
Chr8:60822576 [GRCh38]
Chr8:61735135 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5607+14T>C |
single nucleotide variant |
CHARGE association [RCV003037685] |
Chr8:60851118 [GRCh38]
Chr8:61763677 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2872_2873del (p.Ser958fs) |
microsatellite |
CHARGE association [RCV002885298] |
Chr8:60822057..60822058 [GRCh38]
Chr8:61734616..61734617 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7090G>T (p.Ala2364Ser) |
single nucleotide variant |
CHARGE association [RCV002909159] |
Chr8:60856128 [GRCh38]
Chr8:61768687 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3778+6G>A |
single nucleotide variant |
CHARGE association [RCV003053858] |
Chr8:60830583 [GRCh38]
Chr8:61743142 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4313T>G (p.Val1438Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002692183] |
Chr8:60837795 [GRCh38]
Chr8:61750354 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6283C>T (p.Arg2095Trp) |
single nucleotide variant |
CHARGE association [RCV002591575] |
Chr8:60853008 [GRCh38]
Chr8:61765567 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3778+9G>T |
single nucleotide variant |
CHARGE association [RCV002735374] |
Chr8:60830586 [GRCh38]
Chr8:61743145 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5300+9G>A |
single nucleotide variant |
CHARGE association [RCV003078333] |
Chr8:60848613 [GRCh38]
Chr8:61761172 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7307A>G (p.Asn2436Ser) |
single nucleotide variant |
CHARGE association [RCV002909366] |
Chr8:60856587 [GRCh38]
Chr8:61769146 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7892G>A (p.Arg2631Gln) |
single nucleotide variant |
CHARGE association [RCV003077257]|CHD7-related condition [RCV003395580] |
Chr8:60862257 [GRCh38]
Chr8:61774816 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7609-18A>G |
single nucleotide variant |
CHARGE association [RCV002695578] |
Chr8:60860886 [GRCh38]
Chr8:61773445 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3336C>T (p.Asn1112=) |
single nucleotide variant |
CHARGE association [RCV002592861] |
Chr8:60823974 [GRCh38]
Chr8:61736533 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6379G>A (p.Ala2127Thr) |
single nucleotide variant |
CHARGE association [RCV002975828] |
Chr8:60853104 [GRCh38]
Chr8:61765663 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.2442+16G>A |
single nucleotide variant |
CHARGE association [RCV002926977] |
Chr8:60801609 [GRCh38]
Chr8:61714168 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6190A>G (p.Ile2064Val) |
single nucleotide variant |
CHARGE association [RCV002998755]|not provided [RCV003154268] |
Chr8:60852915 [GRCh38]
Chr8:61765474 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1247G>A (p.Gly416Glu) |
single nucleotide variant |
CHARGE association [RCV002926801] |
Chr8:60742679 [GRCh38]
Chr8:61655238 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8949A>G (p.Ser2983=) |
single nucleotide variant |
CHARGE association [RCV003038711] |
Chr8:60865888 [GRCh38]
Chr8:61778447 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4747del (p.Ser1583fs) |
deletion |
CHARGE association [RCV003039087] |
Chr8:60841948 [GRCh38]
Chr8:61754507 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7320A>G (p.Lys2440=) |
single nucleotide variant |
CHARGE association [RCV002885686] |
Chr8:60856600 [GRCh38]
Chr8:61769159 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7743G>C (p.Val2581=) |
single nucleotide variant |
CHARGE association [RCV002592733] |
Chr8:60861038 [GRCh38]
Chr8:61773597 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5043C>T (p.Asn1681=) |
single nucleotide variant |
CHARGE association [RCV003037478] |
Chr8:60845056 [GRCh38]
Chr8:61757615 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5403T>C (p.His1801=) |
single nucleotide variant |
CHARGE association [RCV002695269] |
Chr8:60849153 [GRCh38]
Chr8:61761712 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8224A>C (p.Asn2742His) |
single nucleotide variant |
CHARGE association [RCV003603130]|not provided [RCV003037014] |
Chr8:60865163 [GRCh38]
Chr8:61777722 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn) |
single nucleotide variant |
CHARGE association [RCV002824546] |
Chr8:60854417 [GRCh38]
Chr8:61766976 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5825G>A (p.Arg1942Gln) |
single nucleotide variant |
CHARGE association [RCV003077858] |
Chr8:60852178 [GRCh38]
Chr8:61764737 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1366C>T (p.Gln456Ter) |
single nucleotide variant |
not provided [RCV002510082] |
Chr8:60742798 [GRCh38]
Chr8:61655357 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1311C>T (p.His437=) |
single nucleotide variant |
CHARGE association [RCV002570273] |
Chr8:60742743 [GRCh38]
Chr8:61655302 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3286A>C (p.Asn1096His) |
single nucleotide variant |
CHARGE association [RCV002927264] |
Chr8:60823924 [GRCh38]
Chr8:61736483 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2265G>A (p.Lys755=) |
single nucleotide variant |
CHARGE association [RCV002886113]|Inborn genetic diseases [RCV003167887] |
Chr8:60800414 [GRCh38]
Chr8:61712973 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.443G>A (p.Arg148Lys) |
single nucleotide variant |
CHARGE association [RCV002952420]|Inborn genetic diseases [RCV002952421]|not provided [RCV003443094] |
Chr8:60741875 [GRCh38]
Chr8:61654434 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.5897G>A (p.Trp1966Ter) |
single nucleotide variant |
CHARGE association [RCV003079087] |
Chr8:60852500 [GRCh38]
Chr8:61765059 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1509T>C (p.Gly503=) |
single nucleotide variant |
CHARGE association [RCV002637646] |
Chr8:60742941 [GRCh38]
Chr8:61655500 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8454C>A (p.Asn2818Lys) |
single nucleotide variant |
CHARGE association [RCV002638400] |
Chr8:60865393 [GRCh38]
Chr8:61777952 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.320C>A (p.Thr107Asn) |
single nucleotide variant |
CHARGE association [RCV003077982] |
Chr8:60741752 [GRCh38]
Chr8:61654311 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6923C>T (p.Ser2308Leu) |
single nucleotide variant |
CHARGE association [RCV002953210] |
Chr8:60854510 [GRCh38]
Chr8:61767069 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8352C>T (p.Thr2784=) |
single nucleotide variant |
CHARGE association [RCV002948434] |
Chr8:60865291 [GRCh38]
Chr8:61777850 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3950G>A (p.Arg1317His) |
single nucleotide variant |
CHARGE association [RCV002979208] |
Chr8:60836244 [GRCh38]
Chr8:61748803 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1172C>G (p.Ala391Gly) |
single nucleotide variant |
CHARGE association [RCV002885884] |
Chr8:60742604 [GRCh38]
Chr8:61655163 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4644+16C>T |
single nucleotide variant |
CHARGE association [RCV003079605] |
Chr8:60841770 [GRCh38]
Chr8:61754329 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1674G>C (p.Pro558=) |
single nucleotide variant |
CHARGE association [RCV003077333] |
Chr8:60781008 [GRCh38]
Chr8:61693567 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5666-13dup |
duplication |
CHARGE association [RCV002948615] |
Chr8:60852001..60852002 [GRCh38]
Chr8:61764560..61764561 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.926A>G (p.Gln309Arg) |
single nucleotide variant |
CHARGE association [RCV002760417] |
Chr8:60742358 [GRCh38]
Chr8:61654917 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2009C>G (p.Thr670Ser) |
single nucleotide variant |
CHARGE association [RCV002824881] |
Chr8:60781343 [GRCh38]
Chr8:61693902 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3778+19C>T |
single nucleotide variant |
CHARGE association [RCV002795497] |
Chr8:60830596 [GRCh38]
Chr8:61743155 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8391C>G (p.Pro2797=) |
single nucleotide variant |
CHARGE association [RCV002923689] |
Chr8:60865330 [GRCh38]
Chr8:61777889 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8871T>C (p.Asp2957=) |
single nucleotide variant |
CHARGE association [RCV002736803] |
Chr8:60865810 [GRCh38]
Chr8:61778369 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2330C>T (p.Ala777Val) |
single nucleotide variant |
CHARGE association [RCV002886484] |
Chr8:60800479 [GRCh38]
Chr8:61713038 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1376G>A (p.Arg459His) |
single nucleotide variant |
CHARGE association [RCV002948790] |
Chr8:60742808 [GRCh38]
Chr8:61655367 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.61_62delinsTC (p.Leu21Ser) |
indel |
not provided [RCV002509959] |
Chr8:60741493..60741494 [GRCh38]
Chr8:61654052..61654053 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2836-16A>G |
single nucleotide variant |
CHARGE association [RCV002885685] |
Chr8:60822008 [GRCh38]
Chr8:61734567 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys) |
single nucleotide variant |
CHARGE association [RCV002637778] |
Chr8:60781174 [GRCh38]
Chr8:61693733 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1349T>C (p.Met450Thr) |
single nucleotide variant |
CHARGE association [RCV002637472] |
Chr8:60742781 [GRCh38]
Chr8:61655340 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4375G>T (p.Glu1459Ter) |
single nucleotide variant |
CHARGE association [RCV003037295] |
Chr8:60838097 [GRCh38]
Chr8:61750656 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2499-19T>C |
single nucleotide variant |
CHARGE association [RCV002913610] |
Chr8:60816368 [GRCh38]
Chr8:61728927 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3850G>A (p.Ala1284Thr) |
single nucleotide variant |
CHARGE association [RCV003038802] |
Chr8:60836144 [GRCh38]
Chr8:61748703 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8138G>A (p.Gly2713Glu) |
single nucleotide variant |
CHARGE association [RCV002797395] |
Chr8:60865077 [GRCh38]
Chr8:61777636 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4354G>A (p.Val1452Ile) |
single nucleotide variant |
CHARGE association [RCV002795215] |
Chr8:60838076 [GRCh38]
Chr8:61750635 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7471C>T (p.Arg2491Cys) |
single nucleotide variant |
CHARGE association [RCV002952984] |
Chr8:60856751 [GRCh38]
Chr8:61769310 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1721G>A (p.Ser574Asn) |
single nucleotide variant |
CHARGE association [RCV002619015] |
Chr8:60781055 [GRCh38]
Chr8:61693614 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.472G>A (p.Ala158Thr) |
single nucleotide variant |
not provided [RCV003037091] |
Chr8:60741904 [GRCh38]
Chr8:61654463 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7083G>T (p.Arg2361Ser) |
single nucleotide variant |
CHARGE association [RCV002760559] |
Chr8:60856121 [GRCh38]
Chr8:61768680 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8791G>C (p.Val2931Leu) |
single nucleotide variant |
CHARGE association [RCV003021126] |
Chr8:60865730 [GRCh38]
Chr8:61778289 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6521A>G (p.Lys2174Arg) |
single nucleotide variant |
CHARGE association [RCV002846635] |
Chr8:60853246 [GRCh38]
Chr8:61765805 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6431A>C (p.Asn2144Thr) |
single nucleotide variant |
CHARGE association [RCV002711731]|not provided [RCV003325610] |
Chr8:60853156 [GRCh38]
Chr8:61765715 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3174G>T (p.Leu1058Phe) |
single nucleotide variant |
CHARGE association [RCV003085247] |
Chr8:60822719 [GRCh38]
Chr8:61735278 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3852A>T (p.Ala1284=) |
single nucleotide variant |
CHARGE association [RCV003025542] |
Chr8:60836146 [GRCh38]
Chr8:61748705 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2698-9C>T |
single nucleotide variant |
CHARGE association [RCV002959019] |
Chr8:60821781 [GRCh38]
Chr8:61734340 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3779-19T>C |
single nucleotide variant |
CHARGE association [RCV002933361] |
Chr8:60836054 [GRCh38]
Chr8:61748613 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6185G>A (p.Arg2062Gln) |
single nucleotide variant |
CHARGE association [RCV003084766] |
Chr8:60852910 [GRCh38]
Chr8:61765469 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.868C>G (p.Leu290Val) |
single nucleotide variant |
CHARGE association [RCV003085398] |
Chr8:60742300 [GRCh38]
Chr8:61654859 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1918_1919delinsTT (p.Glu640Leu) |
indel |
CHARGE association [RCV003056703] |
Chr8:60781252..60781253 [GRCh38]
Chr8:61693811..61693812 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3504T>C (p.Asp1168=) |
single nucleotide variant |
CHARGE association [RCV002667678] |
Chr8:60828788 [GRCh38]
Chr8:61741347 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2775T>A (p.Asp925Glu) |
single nucleotide variant |
CHARGE association [RCV002933246] |
Chr8:60821867 [GRCh38]
Chr8:61734426 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2097-14A>G |
single nucleotide variant |
CHARGE association [RCV002667172] |
Chr8:60794972 [GRCh38]
Chr8:61707531 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5803A>C (p.Met1935Leu) |
single nucleotide variant |
CHARGE association [RCV002791095] |
Chr8:60852156 [GRCh38]
Chr8:61764715 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8283C>T (p.Leu2761=) |
single nucleotide variant |
CHARGE association [RCV002918545] |
Chr8:60865222 [GRCh38]
Chr8:61777781 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7988C>T (p.Ala2663Val) |
single nucleotide variant |
CHARGE association [RCV002597325] |
Chr8:60862564 [GRCh38]
Chr8:61775123 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8202T>C (p.Ala2734=) |
single nucleotide variant |
CHARGE association [RCV002851691] |
Chr8:60865141 [GRCh38]
Chr8:61777700 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6103+19A>G |
single nucleotide variant |
CHARGE association [RCV002805791] |
Chr8:60852725 [GRCh38]
Chr8:61765284 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8739G>T (p.Leu2913=) |
single nucleotide variant |
CHARGE association [RCV002576323] |
Chr8:60865678 [GRCh38]
Chr8:61778237 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2613+19C>A |
single nucleotide variant |
CHARGE association [RCV003055967] |
Chr8:60816520 [GRCh38]
Chr8:61729079 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6744C>A (p.Asp2248Glu) |
single nucleotide variant |
CHARGE association [RCV002786336]|CHD7-related condition [RCV003403918] |
Chr8:60853469 [GRCh38]
Chr8:61766028 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.8454C>T (p.Asn2818=) |
single nucleotide variant |
CHARGE association [RCV003084210] |
Chr8:60865393 [GRCh38]
Chr8:61777952 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4353+12C>G |
single nucleotide variant |
CHARGE association [RCV002664056] |
Chr8:60837847 [GRCh38]
Chr8:61750406 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8609C>T (p.Ala2870Val) |
single nucleotide variant |
CHARGE association [RCV003082708] |
Chr8:60865548 [GRCh38]
Chr8:61778107 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.22A>T (p.Ser8Cys) |
single nucleotide variant |
not provided [RCV002508512] |
Chr8:60741454 [GRCh38]
Chr8:61654013 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6598G>T (p.Gly2200Trp) |
single nucleotide variant |
CHARGE association [RCV003041242] |
Chr8:60853323 [GRCh38]
Chr8:61765882 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2613+11C>T |
single nucleotide variant |
CHARGE association [RCV002872023] |
Chr8:60816512 [GRCh38]
Chr8:61729071 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2499-17T>C |
single nucleotide variant |
CHARGE association [RCV003083771] |
Chr8:60816370 [GRCh38]
Chr8:61728929 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3910G>A (p.Ala1304Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002803241] |
Chr8:60836204 [GRCh38]
Chr8:61748763 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5181C>T (p.Tyr1727=) |
single nucleotide variant |
CHARGE association [RCV002852197] |
Chr8:60845380 [GRCh38]
Chr8:61757939 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4533+10G>A |
single nucleotide variant |
CHARGE association [RCV003084268] |
Chr8:60838265 [GRCh38]
Chr8:61750824 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5330T>G (p.Phe1777Cys) |
single nucleotide variant |
CHARGE association [RCV003058068] |
Chr8:60849080 [GRCh38]
Chr8:61761639 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.351C>G (p.Gly117=) |
single nucleotide variant |
CHARGE association [RCV003056782] |
Chr8:60741783 [GRCh38]
Chr8:61654342 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.498_506del (p.167PQP[1]) |
deletion |
CHARGE association [RCV003084297] |
Chr8:60741930..60741938 [GRCh38]
Chr8:61654489..61654497 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7146G>T (p.Thr2382=) |
single nucleotide variant |
CHARGE association [RCV002572427] |
Chr8:60856184 [GRCh38]
Chr8:61768743 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.907A>G (p.Thr303Ala) |
single nucleotide variant |
CHARGE association [RCV002595318] |
Chr8:60742339 [GRCh38]
Chr8:61654898 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4573T>C (p.Leu1525=) |
single nucleotide variant |
CHARGE association [RCV002790136] |
Chr8:60841683 [GRCh38]
Chr8:61754242 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8571T>C (p.Ser2857=) |
single nucleotide variant |
CHARGE association [RCV002595501] |
Chr8:60865510 [GRCh38]
Chr8:61778069 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5051-17T>A |
single nucleotide variant |
CHARGE association [RCV003056356] |
Chr8:60845233 [GRCh38]
Chr8:61757792 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7972-8C>T |
single nucleotide variant |
CHARGE association [RCV003083387]|not provided [RCV003434560] |
Chr8:60862540 [GRCh38]
Chr8:61775099 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.442A>C (p.Arg148=) |
single nucleotide variant |
CHARGE association [RCV002982790] |
Chr8:60741874 [GRCh38]
Chr8:61654433 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4895G>A (p.Arg1632His) |
single nucleotide variant |
CHARGE association [RCV003083910] |
Chr8:60844908 [GRCh38]
Chr8:61757467 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6758A>T (p.Glu2253Val) |
single nucleotide variant |
CHARGE association [RCV003603141]|Inborn genetic diseases [RCV002891354] |
Chr8:60853483 [GRCh38]
Chr8:61766042 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6433C>T (p.Pro2145Ser) |
single nucleotide variant |
CHARGE association [RCV002851736] |
Chr8:60853158 [GRCh38]
Chr8:61765717 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2272C>T (p.Arg758Cys) |
single nucleotide variant |
CHARGE association [RCV002625691] |
Chr8:60800421 [GRCh38]
Chr8:61712980 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1214C>T (p.Pro405Leu) |
single nucleotide variant |
CHARGE association [RCV002624177] |
Chr8:60742646 [GRCh38]
Chr8:61655205 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3378G>C (p.Leu1126Phe) |
single nucleotide variant |
CHARGE association [RCV002851059] |
Chr8:60824016 [GRCh38]
Chr8:61736575 [GRCh37]
Chr8:8q12.2 |
pathogenic|uncertain significance |
| NM_017780.4(CHD7):c.2391A>G (p.Ala797=) |
single nucleotide variant |
CHARGE association [RCV003084002] |
Chr8:60801542 [GRCh38]
Chr8:61714101 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6392T>G (p.Phe2131Cys) |
single nucleotide variant |
CHARGE association [RCV002801047] |
Chr8:60853117 [GRCh38]
Chr8:61765676 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5337T>C (p.Ala1779=) |
single nucleotide variant |
CHARGE association [RCV003024069] |
Chr8:60849087 [GRCh38]
Chr8:61761646 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3073T>C (p.Leu1025=) |
single nucleotide variant |
CHARGE association [RCV002790262] |
Chr8:60822618 [GRCh38]
Chr8:61735177 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8270G>T (p.Ser2757Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002825973]|not provided [RCV003314755] |
Chr8:60865209 [GRCh38]
Chr8:61777768 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.70C>T (p.Leu24Phe) |
single nucleotide variant |
CHARGE association [RCV002575202] |
Chr8:60741502 [GRCh38]
Chr8:61654061 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8442G>A (p.Gly2814=) |
single nucleotide variant |
CHARGE association [RCV002786171] |
Chr8:60865381 [GRCh38]
Chr8:61777940 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5961T>C (p.Pro1987=) |
single nucleotide variant |
CHARGE association [RCV002985407] |
Chr8:60852564 [GRCh38]
Chr8:61765123 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1543C>G (p.Pro515Ala) |
single nucleotide variant |
CHARGE association [RCV003085029] |
Chr8:60742975 [GRCh38]
Chr8:61655534 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2820_2822dup (p.Glu941_Thr942insGlu) |
duplication |
CHARGE association [RCV002853424] |
Chr8:60821911..60821912 [GRCh38]
Chr8:61734470..61734471 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.789T>A (p.Ala263=) |
single nucleotide variant |
CHARGE association [RCV002872237] |
Chr8:60742221 [GRCh38]
Chr8:61654780 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1589_1597del (p.Pro530_Pro532del) |
deletion |
CHARGE association [RCV003023265] |
Chr8:60743017..60743025 [GRCh38]
Chr8:61655576..61655584 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6780A>G (p.Gly2260=) |
single nucleotide variant |
CHARGE association [RCV003083086] |
Chr8:60854367 [GRCh38]
Chr8:61766926 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5887C>T (p.Arg1963Trp) |
single nucleotide variant |
CHARGE association [RCV003497964]|Inborn genetic diseases [RCV002892659] |
Chr8:60852240 [GRCh38]
Chr8:61764799 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe) |
single nucleotide variant |
CHARGE association [RCV002642619]|Inborn genetic diseases [RCV002627456] |
Chr8:60865559 [GRCh38]
Chr8:61778118 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7776del (p.Glu2593fs) |
deletion |
CHARGE association [RCV002871809] |
Chr8:60861070 [GRCh38]
Chr8:61773629 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.520C>T (p.Pro174Ser) |
single nucleotide variant |
CHARGE association [RCV002894684] |
Chr8:60741952 [GRCh38]
Chr8:61654511 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4897C>G (p.Gln1633Glu) |
single nucleotide variant |
CHARGE association [RCV003005280] |
Chr8:60844910 [GRCh38]
Chr8:61757469 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1840G>C (p.Gly614Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002787999] |
Chr8:60781174 [GRCh38]
Chr8:61693733 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2834T>C (p.Val945Ala) |
single nucleotide variant |
CHARGE association [RCV003005775] |
Chr8:60821926 [GRCh38]
Chr8:61734485 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3698G>A (p.Gly1233Asp) |
single nucleotide variant |
CHARGE association [RCV003023569] |
Chr8:60830497 [GRCh38]
Chr8:61743056 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.352_360del (p.Ser118_Gly120del) |
deletion |
CHARGE association [RCV002872017] |
Chr8:60741777..60741785 [GRCh38]
Chr8:61654336..61654344 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7491C>G (p.Leu2497=) |
single nucleotide variant |
CHARGE association [RCV002828042] |
Chr8:60856771 [GRCh38]
Chr8:61769330 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6341A>G (p.Tyr2114Cys) |
single nucleotide variant |
CHARGE association [RCV002790797] |
Chr8:60853066 [GRCh38]
Chr8:61765625 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2075C>G (p.Pro692Arg) |
single nucleotide variant |
CHARGE association [RCV002701178] |
Chr8:60781409 [GRCh38]
Chr8:61693968 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2662A>G (p.Met888Val) |
single nucleotide variant |
CHARGE association [RCV003005150] |
Chr8:60820055 [GRCh38]
Chr8:61732614 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4119T>G (p.Ile1373Met) |
single nucleotide variant |
CHARGE association [RCV003049026] |
Chr8:60836946 [GRCh38]
Chr8:61749505 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8181A>G (p.Arg2727=) |
single nucleotide variant |
CHARGE association [RCV002721104] |
Chr8:60865120 [GRCh38]
Chr8:61777679 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5770T>C (p.Tyr1924His) |
single nucleotide variant |
CHARGE association [RCV002580142]|not provided [RCV003329448] |
Chr8:60852123 [GRCh38]
Chr8:61764682 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1390A>T (p.Met464Leu) |
single nucleotide variant |
CHARGE association [RCV003030603] |
Chr8:60742822 [GRCh38]
Chr8:61655381 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.515C>T (p.Pro172Leu) |
single nucleotide variant |
CHARGE association [RCV002966183]|Inborn genetic diseases [RCV003170711] |
Chr8:60741947 [GRCh38]
Chr8:61654506 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.239T>G (p.Met80Arg) |
single nucleotide variant |
CHARGE association [RCV003065905] |
Chr8:60741671 [GRCh38]
Chr8:61654230 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1079G>A (p.Gly360Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002939354] |
Chr8:60742511 [GRCh38]
Chr8:61655070 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6285G>T (p.Arg2095=) |
single nucleotide variant |
CHARGE association [RCV002650939] |
Chr8:60853010 [GRCh38]
Chr8:61765569 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2199A>G (p.Pro733=) |
single nucleotide variant |
CHARGE association [RCV002631236] |
Chr8:60795088 [GRCh38]
Chr8:61707647 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2613+23del |
deletion |
CHARGE association [RCV002900342] |
Chr8:60816521 [GRCh38]
Chr8:61729080 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5856A>T (p.Glu1952Asp) |
single nucleotide variant |
CHARGE association [RCV003090219] |
Chr8:60852209 [GRCh38]
Chr8:61764768 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7824T>A (p.Tyr2608Ter) |
single nucleotide variant |
CHARGE association [RCV003062166] |
Chr8:60861119 [GRCh38]
Chr8:61773678 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3395T>A (p.Leu1132Gln) |
single nucleotide variant |
CHARGE association [RCV002834624] |
Chr8:60828679 [GRCh38]
Chr8:61741238 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8550T>G (p.Asn2850Lys) |
single nucleotide variant |
CHARGE association [RCV002941999] |
Chr8:60865489 [GRCh38]
Chr8:61778048 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5123A>G (p.Gln1708Arg) |
single nucleotide variant |
CHARGE association [RCV002811931] |
Chr8:60845322 [GRCh38]
Chr8:61757881 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3858C>A (p.Ile1286=) |
single nucleotide variant |
CHARGE association [RCV003031755] |
Chr8:60836152 [GRCh38]
Chr8:61748711 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5665+7T>C |
single nucleotide variant |
CHARGE association [RCV002649274] |
Chr8:60851326 [GRCh38]
Chr8:61763885 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.723G>C (p.Gln241His) |
single nucleotide variant |
CHARGE association [RCV002966269] |
Chr8:60742155 [GRCh38]
Chr8:61654714 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.171T>C (p.Pro57=) |
single nucleotide variant |
CHARGE association [RCV002720175] |
Chr8:60741603 [GRCh38]
Chr8:61654162 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1195A>G (p.Met399Val) |
single nucleotide variant |
CHARGE association [RCV003603135]|Inborn genetic diseases [RCV002703097] |
Chr8:60742627 [GRCh38]
Chr8:61655186 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.5291C>T (p.Ala1764Val) |
single nucleotide variant |
CHARGE association [RCV002876872] |
Chr8:60848595 [GRCh38]
Chr8:61761154 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5608-13C>G |
single nucleotide variant |
CHARGE association [RCV002934009] |
Chr8:60851249 [GRCh38]
Chr8:61763808 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4857A>G (p.Gly1619=) |
single nucleotide variant |
CHARGE association [RCV003060498] |
Chr8:60844870 [GRCh38]
Chr8:61757429 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4968G>A (p.Gly1656=) |
single nucleotide variant |
CHARGE association [RCV002721009] |
Chr8:60844981 [GRCh38]
Chr8:61757540 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8307G>A (p.Leu2769=) |
single nucleotide variant |
CHARGE association [RCV002651363] |
Chr8:60865246 [GRCh38]
Chr8:61777805 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6865A>G (p.Met2289Val) |
single nucleotide variant |
CHARGE association [RCV002602532] |
Chr8:60854452 [GRCh38]
Chr8:61767011 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8228C>G (p.Pro2743Arg) |
single nucleotide variant |
CHARGE association [RCV002632517] |
Chr8:60865167 [GRCh38]
Chr8:61777726 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2614-14T>C |
single nucleotide variant |
CHARGE association [RCV002577055] |
Chr8:60819993 [GRCh38]
Chr8:61732552 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4185+17G>A |
single nucleotide variant |
CHARGE association [RCV002810504] |
Chr8:60837029 [GRCh38]
Chr8:61749588 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2448A>G (p.Glu816=) |
single nucleotide variant |
CHARGE association [RCV003089822] |
Chr8:60808222 [GRCh38]
Chr8:61720781 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3821A>G (p.Asn1274Ser) |
single nucleotide variant |
CHARGE association [RCV003060805] |
Chr8:60836115 [GRCh38]
Chr8:61748674 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7238_7239delinsTT (p.Arg2413Ile) |
indel |
CHARGE association [RCV003061055] |
Chr8:60856518..60856519 [GRCh38]
Chr8:61769077..61769078 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1808del (p.Asn603fs) |
deletion |
CHARGE association [RCV002856647] |
Chr8:60781138 [GRCh38]
Chr8:61693697 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3306A>G (p.Val1102=) |
single nucleotide variant |
CHARGE association [RCV002671508] |
Chr8:60823944 [GRCh38]
Chr8:61736503 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3779-13C>T |
single nucleotide variant |
CHARGE association [RCV002833315] |
Chr8:60836060 [GRCh38]
Chr8:61748619 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5778G>A (p.Arg1926=) |
single nucleotide variant |
CHARGE association [RCV002899668] |
Chr8:60852131 [GRCh38]
Chr8:61764690 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3778+8T>C |
single nucleotide variant |
CHARGE association [RCV003046962] |
Chr8:60830585 [GRCh38]
Chr8:61743144 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3041G>A (p.Gly1014Glu) |
single nucleotide variant |
CHARGE association [RCV003043870] |
Chr8:60822586 [GRCh38]
Chr8:61735145 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4644+11A>C |
single nucleotide variant |
CHARGE association [RCV002746291] |
Chr8:60841765 [GRCh38]
Chr8:61754324 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4354-12T>G |
single nucleotide variant |
CHARGE association [RCV002629451] |
Chr8:60838064 [GRCh38]
Chr8:61750623 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7993C>G (p.Pro2665Ala) |
single nucleotide variant |
CHARGE association [RCV003086441] |
Chr8:60862569 [GRCh38]
Chr8:61775128 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7193G>A (p.Arg2398His) |
single nucleotide variant |
CHARGE association [RCV002899158] |
Chr8:60856473 [GRCh38]
Chr8:61769032 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3990-8T>C |
single nucleotide variant |
CHARGE association [RCV002922152]|CHD7-related condition [RCV003961210] |
Chr8:60836809 [GRCh38]
Chr8:61749368 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5092G>A (p.Val1698Met) |
single nucleotide variant |
CHARGE association [RCV002628854]|Inborn genetic diseases [RCV002628853] |
Chr8:60845291 [GRCh38]
Chr8:61757850 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2614-11dup |
duplication |
CHARGE association [RCV002806193] |
Chr8:60819993..60819994 [GRCh38]
Chr8:61732552..61732553 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu) |
single nucleotide variant |
CHARGE association [RCV002628135]|CHD7-related condition [RCV003410123] |
Chr8:60865773 [GRCh38]
Chr8:61778332 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2503dup (p.Tyr835fs) |
duplication |
CHARGE association [RCV003044985] |
Chr8:60816389..60816390 [GRCh38]
Chr8:61728948..61728949 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3561G>A (p.Leu1187=) |
single nucleotide variant |
CHARGE association [RCV002833265] |
Chr8:60830360 [GRCh38]
Chr8:61742919 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.967G>A (p.Val323Ile) |
single nucleotide variant |
CHARGE association [RCV003087169] |
Chr8:60742399 [GRCh38]
Chr8:61654958 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn) |
single nucleotide variant |
CHARGE association [RCV002627912] |
Chr8:60781343 [GRCh38]
Chr8:61693902 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.312G>T (p.Gln104His) |
single nucleotide variant |
CHARGE association [RCV002899581] |
Chr8:60741744 [GRCh38]
Chr8:61654303 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7262T>C (p.Met2421Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002896554] |
Chr8:60856542 [GRCh38]
Chr8:61769101 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe) |
single nucleotide variant |
CHARGE association [RCV003087139]|CHD7-related condition [RCV003410090] |
Chr8:60742549 [GRCh38]
Chr8:61655108 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6704A>C (p.Lys2235Thr) |
single nucleotide variant |
CHARGE association [RCV003061651] |
Chr8:60853429 [GRCh38]
Chr8:61765988 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3695G>A (p.Gly1232Asp) |
single nucleotide variant |
CHARGE association [RCV002922675] |
Chr8:60830494 [GRCh38]
Chr8:61743053 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1678G>A (p.Glu560Lys) |
single nucleotide variant |
CHARGE association [RCV002746284] |
Chr8:60781012 [GRCh38]
Chr8:61693571 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7499G>T (p.Gly2500Val) |
single nucleotide variant |
CHARGE association [RCV003060860] |
Chr8:60856779 [GRCh38]
Chr8:61769338 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5952T>G (p.Ile1984Met) |
single nucleotide variant |
CHARGE association [RCV002832892] |
Chr8:60852555 [GRCh38]
Chr8:61765114 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2723G>A (p.Trp908Ter) |
single nucleotide variant |
CHARGE association [RCV003045720] |
Chr8:60821815 [GRCh38]
Chr8:61734374 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7101C>T (p.Ser2367=) |
single nucleotide variant |
CHARGE association [RCV002857729] |
Chr8:60856139 [GRCh38]
Chr8:61768698 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3840del (p.Gln1281fs) |
deletion |
CHARGE association [RCV002899218] |
Chr8:60836131 [GRCh38]
Chr8:61748690 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8093C>T (p.Ser2698Leu) |
single nucleotide variant |
CHARGE association [RCV003088966] |
Chr8:60865032 [GRCh38]
Chr8:61777591 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2872A>C (p.Ser958Arg) |
single nucleotide variant |
CHARGE association [RCV002598251] |
Chr8:60822060 [GRCh38]
Chr8:61734619 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.160C>G (p.Leu54Val) |
single nucleotide variant |
CHARGE association [RCV003027973] |
Chr8:60741592 [GRCh38]
Chr8:61654151 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2949G>A (p.Trp983Ter) |
single nucleotide variant |
CHARGE association [RCV003062165] |
Chr8:60822137 [GRCh38]
Chr8:61734696 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7250G>T (p.Arg2417Met) |
single nucleotide variant |
CHARGE association [RCV002601398] |
Chr8:60856530 [GRCh38]
Chr8:61769089 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1633C>T (p.Gln545Ter) |
single nucleotide variant |
CHARGE association [RCV003026443] |
Chr8:60743065 [GRCh38]
Chr8:61655624 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7262del (p.Met2421fs) |
deletion |
CHARGE association [RCV002810538] |
Chr8:60856542 [GRCh38]
Chr8:61769101 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5853_5855del (p.Glu1952del) |
deletion |
CHARGE association [RCV003090218] |
Chr8:60852206..60852208 [GRCh38]
Chr8:61764765..61764767 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6752C>T (p.Ser2251Leu) |
single nucleotide variant |
CHARGE association [RCV003090854] |
Chr8:60853477 [GRCh38]
Chr8:61766036 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2957+6T>A |
single nucleotide variant |
CHARGE association [RCV002877346] |
Chr8:60822151 [GRCh38]
Chr8:61734710 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6028A>G (p.Ser2010Gly) |
single nucleotide variant |
CHARGE association [RCV002806644] |
Chr8:60852631 [GRCh38]
Chr8:61765190 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6286C>T (p.His2096Tyr) |
single nucleotide variant |
CHARGE association [RCV003063686] |
Chr8:60853011 [GRCh38]
Chr8:61765570 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.925C>A (p.Gln309Lys) |
single nucleotide variant |
CHARGE association [RCV002628635] |
Chr8:60742357 [GRCh38]
Chr8:61654916 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2868G>A (p.Ser956=) |
single nucleotide variant |
CHARGE association [RCV002630822] |
Chr8:60822056 [GRCh38]
Chr8:61734615 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6565G>A (p.Gly2189Ser) |
single nucleotide variant |
CHARGE association [RCV003047686] |
Chr8:60853290 [GRCh38]
Chr8:61765849 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6450T>A (p.Phe2150Leu) |
single nucleotide variant |
CHARGE association [RCV002811424] |
Chr8:60853175 [GRCh38]
Chr8:61765734 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3579T>C (p.Asp1193=) |
single nucleotide variant |
CHARGE association [RCV002939160] |
Chr8:60830378 [GRCh38]
Chr8:61742937 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1365G>A (p.Met455Ile) |
single nucleotide variant |
CHARGE association [RCV002631983] |
Chr8:60742797 [GRCh38]
Chr8:61655356 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3602A>G (p.Lys1201Arg) |
single nucleotide variant |
CHARGE association [RCV003064852] |
Chr8:60830401 [GRCh38]
Chr8:61742960 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3779-18G>C |
single nucleotide variant |
CHARGE association [RCV002938469] |
Chr8:60836055 [GRCh38]
Chr8:61748614 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.440C>T (p.Pro147Leu) |
single nucleotide variant |
CHARGE association [RCV002650341] |
Chr8:60741872 [GRCh38]
Chr8:61654431 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4324A>G (p.Met1442Val) |
single nucleotide variant |
CHARGE association [RCV003063434] |
Chr8:60837806 [GRCh38]
Chr8:61750365 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7592G>A (p.Arg2531Gln) |
single nucleotide variant |
CHARGE association [RCV002933741] |
Chr8:60856872 [GRCh38]
Chr8:61769431 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3963A>C (p.Ile1321=) |
single nucleotide variant |
CHARGE association [RCV003061398] |
Chr8:60836257 [GRCh38]
Chr8:61748816 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1570C>T (p.His524Tyr) |
single nucleotide variant |
CHARGE association [RCV002629060] |
Chr8:60743002 [GRCh38]
Chr8:61655561 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6383A>G (p.His2128Arg) |
single nucleotide variant |
CHARGE association [RCV003045705] |
Chr8:60853108 [GRCh38]
Chr8:61765667 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3600C>T (p.Pro1200=) |
single nucleotide variant |
CHARGE association [RCV003046117] |
Chr8:60830399 [GRCh38]
Chr8:61742958 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5211-19C>G |
single nucleotide variant |
CHARGE association [RCV003088951] |
Chr8:60848496 [GRCh38]
Chr8:61761055 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8933G>T (p.Gly2978Val) |
single nucleotide variant |
CHARGE association [RCV003065714] |
Chr8:60865872 [GRCh38]
Chr8:61778431 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4886G>A (p.Arg1629His) |
single nucleotide variant |
CHARGE association [RCV002988860] |
Chr8:60844899 [GRCh38]
Chr8:61757458 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5888G>A (p.Arg1963Gln) |
single nucleotide variant |
CHARGE association [RCV003777956]|Inborn genetic diseases [RCV002921214] |
Chr8:60852241 [GRCh38]
Chr8:61764800 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.1947A>C (p.Ala649=) |
single nucleotide variant |
CHARGE association [RCV003062168] |
Chr8:60781281 [GRCh38]
Chr8:61693840 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6196G>C (p.Glu2066Gln) |
single nucleotide variant |
CHARGE association [RCV003065592]|not provided [RCV003457189] |
Chr8:60852921 [GRCh38]
Chr8:61765480 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.7062G>A (p.Val2354=) |
single nucleotide variant |
CHARGE association [RCV003086906] |
Chr8:60856100 [GRCh38]
Chr8:61768659 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2948G>A (p.Trp983Ter) |
single nucleotide variant |
CHARGE association [RCV002898883] |
Chr8:60822136 [GRCh38]
Chr8:61734695 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5895-18A>G |
single nucleotide variant |
CHARGE association [RCV002602507] |
Chr8:60852480 [GRCh38]
Chr8:61765039 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2252G>A (p.Ser751Asn) |
single nucleotide variant |
CHARGE association [RCV002598767] |
Chr8:60800401 [GRCh38]
Chr8:61712960 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys) |
single nucleotide variant |
CHARGE association [RCV002962084]|CHD7-related condition [RCV003403984]|not provided [RCV002962083] |
Chr8:60853497 [GRCh38]
Chr8:61766056 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7830+20G>A |
single nucleotide variant |
CHARGE association [RCV002833918] |
Chr8:60861145 [GRCh38]
Chr8:61773704 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7070C>T (p.Pro2357Leu) |
single nucleotide variant |
CHARGE association [RCV002631664]|not provided [RCV003313292] |
Chr8:60856108 [GRCh38]
Chr8:61768667 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1716G>C (p.Gln572His) |
single nucleotide variant |
CHARGE association [RCV002876881] |
Chr8:60781050 [GRCh38]
Chr8:61693609 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1812C>T (p.Asn604=) |
single nucleotide variant |
CHARGE association [RCV002628620] |
Chr8:60781146 [GRCh38]
Chr8:61693705 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2467A>G (p.Ile823Val) |
single nucleotide variant |
CHARGE association [RCV002647666] |
Chr8:60808241 [GRCh38]
Chr8:61720800 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3201+16T>G |
single nucleotide variant |
CHARGE association [RCV002584452] |
Chr8:60822762 [GRCh38]
Chr8:61735321 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6047G>A (p.Ser2016Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002722931] |
Chr8:60852650 [GRCh38]
Chr8:61765209 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2499-18A>G |
single nucleotide variant |
CHARGE association [RCV003051973] |
Chr8:60816369 [GRCh38]
Chr8:61728928 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4186-3C>G |
single nucleotide variant |
CHARGE association [RCV002942327] |
Chr8:60837665 [GRCh38]
Chr8:61750224 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7144A>G (p.Thr2382Ala) |
single nucleotide variant |
CHARGE association [RCV002676906] |
Chr8:60856182 [GRCh38]
Chr8:61768741 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3576G>A (p.Glu1192=) |
single nucleotide variant |
CHARGE association [RCV002604344] |
Chr8:60830375 [GRCh38]
Chr8:61742934 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3378+14T>C |
single nucleotide variant |
CHARGE association [RCV002584816] |
Chr8:60824030 [GRCh38]
Chr8:61736589 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4807A>C (p.Arg1603=) |
single nucleotide variant |
CHARGE association [RCV002653534] |
Chr8:60842009 [GRCh38]
Chr8:61754568 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6937-13C>T |
single nucleotide variant |
CHARGE association [RCV002605674] |
Chr8:60855962 [GRCh38]
Chr8:61768521 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2615T>C (p.Ile872Thr) |
single nucleotide variant |
CHARGE association [RCV002582891] |
Chr8:60820008 [GRCh38]
Chr8:61732567 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5512A>G (p.Met1838Val) |
single nucleotide variant |
CHARGE association [RCV003051410] |
Chr8:60850600 [GRCh38]
Chr8:61763159 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7703G>A (p.Arg2568Gln) |
single nucleotide variant |
CHARGE association [RCV003067221] |
Chr8:60860998 [GRCh38]
Chr8:61773557 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8320G>A (p.Gly2774Ser) |
single nucleotide variant |
CHARGE association [RCV002583261] |
Chr8:60865259 [GRCh38]
Chr8:61777818 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5387T>C (p.Ile1796Thr) |
single nucleotide variant |
CHARGE association [RCV003067290] |
Chr8:60849137 [GRCh38]
Chr8:61761696 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6775+19C>T |
single nucleotide variant |
CHARGE association [RCV003068865] |
Chr8:60853519 [GRCh38]
Chr8:61766078 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7470G>A (p.Ser2490=) |
single nucleotide variant |
CHARGE association [RCV002942738] |
Chr8:60856750 [GRCh38]
Chr8:61769309 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8474G>T (p.Gly2825Val) |
single nucleotide variant |
CHARGE association [RCV003067432] |
Chr8:60865413 [GRCh38]
Chr8:61777972 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr) |
single nucleotide variant |
CHARGE association [RCV002944032]|CHD7-related condition [RCV003906416]|Inborn genetic diseases [RCV003250664] |
Chr8:60865115 [GRCh38]
Chr8:61777674 [GRCh37]
Chr8:8q12.2 |
benign|likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7608+7dup |
duplication |
CHARGE association [RCV003052179] |
Chr8:60856893..60856894 [GRCh38]
Chr8:61769452..61769453 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter) |
single nucleotide variant |
CHARGE association [RCV003152920] |
Chr8:60845300 [GRCh38]
Chr8:61757859 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.-174-1G>A |
single nucleotide variant |
not provided [RCV003149226] |
Chr8:60741258 [GRCh38]
Chr8:61653817 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4605T>C (p.Ala1535=) |
single nucleotide variant |
CHARGE association [RCV002633402] |
Chr8:60841715 [GRCh38]
Chr8:61754274 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5705A>G (p.Tyr1902Cys) |
single nucleotide variant |
CHARGE association [RCV002654979] |
Chr8:60852058 [GRCh38]
Chr8:61764617 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.756G>T (p.Ser252=) |
single nucleotide variant |
CHARGE association [RCV002605959] |
Chr8:60742188 [GRCh38]
Chr8:61654747 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr) |
single nucleotide variant |
CHARGE association [RCV002634020] |
Chr8:60865130 [GRCh38]
Chr8:61777689 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3778+20G>A |
single nucleotide variant |
CHARGE association [RCV003093644] |
Chr8:60830597 [GRCh38]
Chr8:61743156 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1285A>G (p.Asn429Asp) |
single nucleotide variant |
CHARGE association [RCV003071353] |
Chr8:60742717 [GRCh38]
Chr8:61655276 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4317A>G (p.Leu1439=) |
single nucleotide variant |
CHARGE association [RCV002588782] |
Chr8:60837799 [GRCh38]
Chr8:61750358 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.91G>T (p.Glu31Ter) |
single nucleotide variant |
CHARGE association [RCV002942341] |
Chr8:60741523 [GRCh38]
Chr8:61654082 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5211-14G>A |
single nucleotide variant |
CHARGE association [RCV003092533] |
Chr8:60848501 [GRCh38]
Chr8:61761060 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.305A>G (p.His102Arg) |
single nucleotide variant |
CHARGE association [RCV003050395] |
Chr8:60741737 [GRCh38]
Chr8:61654296 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4533+7A>C |
single nucleotide variant |
CHARGE association [RCV002655060] |
Chr8:60838262 [GRCh38]
Chr8:61750821 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2096+8G>A |
single nucleotide variant |
CHARGE association [RCV003052034] |
Chr8:60781438 [GRCh38]
Chr8:61693997 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2017G>A (p.Ala673Thr) |
single nucleotide variant |
CHARGE association [RCV002658011] |
Chr8:60781351 [GRCh38]
Chr8:61693910 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1665+14G>C |
single nucleotide variant |
CHARGE association [RCV002587187] |
Chr8:60743111 [GRCh38]
Chr8:61655670 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.830C>T (p.Pro277Leu) |
single nucleotide variant |
CHARGE association [RCV002586454]|Inborn genetic diseases [RCV002586455] |
Chr8:60742262 [GRCh38]
Chr8:61654821 [GRCh37]
Chr8:8q12.2 |
benign|likely benign |
| NM_017780.4(CHD7):c.6514G>A (p.Glu2172Lys) |
single nucleotide variant |
CHARGE association [RCV002603103] |
Chr8:60853239 [GRCh38]
Chr8:61765798 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1717G>T (p.Val573Phe) |
single nucleotide variant |
CHARGE association [RCV002606269] |
Chr8:60781051 [GRCh38]
Chr8:61693610 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser) |
single nucleotide variant |
CHARGE association [RCV003071291]|not provided [RCV003434552] |
Chr8:60860967 [GRCh38]
Chr8:61773526 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.7743G>A (p.Val2581=) |
single nucleotide variant |
CHARGE association [RCV002607337] |
Chr8:60861038 [GRCh38]
Chr8:61773597 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6766C>G (p.Gln2256Glu) |
single nucleotide variant |
CHARGE association [RCV002633641] |
Chr8:60853491 [GRCh38]
Chr8:61766050 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3764C>T (p.Pro1255Leu) |
single nucleotide variant |
CHARGE association [RCV002586715] |
Chr8:60830563 [GRCh38]
Chr8:61743122 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2951A>G (p.Tyr984Cys) |
single nucleotide variant |
CHARGE association [RCV002588588] |
Chr8:60822139 [GRCh38]
Chr8:61734698 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5211-17T>A |
single nucleotide variant |
CHARGE association [RCV002634854] |
Chr8:60848498 [GRCh38]
Chr8:61761057 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8142G>A (p.Ala2714=) |
single nucleotide variant |
CHARGE association [RCV002607569] |
Chr8:60865081 [GRCh38]
Chr8:61777640 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1444G>A (p.Gly482Ser) |
single nucleotide variant |
CHARGE association [RCV002942661] |
Chr8:60742876 [GRCh38]
Chr8:61655435 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7855T>C (p.Ser2619Pro) |
single nucleotide variant |
CHARGE association [RCV002611310] |
Chr8:60862220 [GRCh38]
Chr8:61774779 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5136G>C (p.Trp1712Cys) |
single nucleotide variant |
CHARGE association [RCV003050148] |
Chr8:60845335 [GRCh38]
Chr8:61757894 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1861C>T (p.Pro621Ser) |
single nucleotide variant |
CHARGE association [RCV002585391] |
Chr8:60781195 [GRCh38]
Chr8:61693754 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1956C>A (p.Asp652Glu) |
single nucleotide variant |
CHARGE association [RCV002589120] |
Chr8:60781290 [GRCh38]
Chr8:61693849 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3719A>C (p.Asn1240Thr) |
single nucleotide variant |
CHARGE association [RCV002654599] |
Chr8:60830518 [GRCh38]
Chr8:61743077 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5215C>T (p.Leu1739=) |
single nucleotide variant |
CHARGE association [RCV002603833] |
Chr8:60848519 [GRCh38]
Chr8:61761078 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5420A>G (p.Asn1807Ser) |
single nucleotide variant |
CHARGE association [RCV003070052]|Inborn genetic diseases [RCV003070051] |
Chr8:60850508 [GRCh38]
Chr8:61763067 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6570A>G (p.Lys2190=) |
single nucleotide variant |
CHARGE association [RCV003072607] |
Chr8:60853295 [GRCh38]
Chr8:61765854 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.854T>C (p.Val285Ala) |
single nucleotide variant |
CHARGE association [RCV002612112] |
Chr8:60742286 [GRCh38]
Chr8:61654845 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6639T>C (p.Ser2213=) |
single nucleotide variant |
CHARGE association [RCV002586020] |
Chr8:60853364 [GRCh38]
Chr8:61765923 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5816G>C (p.Arg1939Pro) |
single nucleotide variant |
CHARGE association [RCV002587884] |
Chr8:60852169 [GRCh38]
Chr8:61764728 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2510A>G (p.His837Arg) |
single nucleotide variant |
CHARGE association [RCV002612470] |
Chr8:60816398 [GRCh38]
Chr8:61728957 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7831-14T>C |
single nucleotide variant |
CHARGE association [RCV003067459] |
Chr8:60862182 [GRCh38]
Chr8:61774741 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1449T>G (p.Val483=) |
single nucleotide variant |
CHARGE association [RCV003052177] |
Chr8:60742881 [GRCh38]
Chr8:61655440 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4092G>A (p.Leu1364=) |
single nucleotide variant |
CHARGE association [RCV003070985] |
Chr8:60836919 [GRCh38]
Chr8:61749478 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.557T>C (p.Met186Thr) |
single nucleotide variant |
CHARGE association [RCV002588184] |
Chr8:60741989 [GRCh38]
Chr8:61654548 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg) |
single nucleotide variant |
CHARGE association [RCV003603149]|CHD7-related condition [RCV003919018]|not provided [RCV003144895] |
Chr8:60845286 [GRCh38]
Chr8:61757845 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.4055T>C (p.Phe1352Ser) |
single nucleotide variant |
not provided [RCV003144896] |
Chr8:60836882 [GRCh38]
Chr8:61749441 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.814A>C (p.Ser272Arg) |
single nucleotide variant |
not provided [RCV003144898] |
Chr8:60742246 [GRCh38]
Chr8:61654805 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.507_515dup (p.Pro172_Ala173insProGlnPro) |
duplication |
not provided [RCV003144901] |
Chr8:60741930..60741931 [GRCh38]
Chr8:61654489..61654490 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8318T>C (p.Met2773Thr) |
single nucleotide variant |
not provided [RCV003144893] |
Chr8:60865257 [GRCh38]
Chr8:61777816 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7184C>T (p.Ser2395Phe) |
single nucleotide variant |
not provided [RCV003144899] |
Chr8:60856464 [GRCh38]
Chr8:61769023 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1309C>T (p.His437Tyr) |
single nucleotide variant |
not provided [RCV003144894] |
Chr8:60742741 [GRCh38]
Chr8:61655300 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7415C>T (p.Thr2472Ile) |
single nucleotide variant |
not provided [RCV003144897] |
Chr8:60856695 [GRCh38]
Chr8:61769254 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6492T>A (p.Asp2164Glu) |
single nucleotide variant |
not provided [RCV003144900] |
Chr8:60853217 [GRCh38]
Chr8:61765776 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7526T>A (p.Met2509Lys) |
single nucleotide variant |
not provided [RCV003154493] |
Chr8:60856806 [GRCh38]
Chr8:61769365 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3077C>A (p.Ser1026Tyr) |
single nucleotide variant |
not provided [RCV003154467] |
Chr8:60822622 [GRCh38]
Chr8:61735181 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5308G>T (p.Asp1770Tyr) |
single nucleotide variant |
not provided [RCV003144890] |
Chr8:60849058 [GRCh38]
Chr8:61761617 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7654C>A (p.Pro2552Thr) |
single nucleotide variant |
not provided [RCV003144891] |
Chr8:60860949 [GRCh38]
Chr8:61773508 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1122C>T (p.Asn374=) |
single nucleotide variant |
not provided [RCV003224033] |
Chr8:60742554 [GRCh38]
Chr8:61655113 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1503T>A (p.His501Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003209739] |
Chr8:60742935 [GRCh38]
Chr8:61655494 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5250A>C (p.Gln1750His) |
single nucleotide variant |
not provided [RCV003229440] |
Chr8:60848554 [GRCh38]
Chr8:61761113 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8140G>A (p.Ala2714Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003216242] |
Chr8:60865079 [GRCh38]
Chr8:61777638 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4868A>G (p.Asp1623Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003177153] |
Chr8:60844881 [GRCh38]
Chr8:61757440 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1864G>A (p.Gly622Ser) |
single nucleotide variant |
not provided [RCV003221496] |
Chr8:60781198 [GRCh38]
Chr8:61693757 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3820A>C (p.Asn1274His) |
single nucleotide variant |
Inborn genetic diseases [RCV003193603] |
Chr8:60836114 [GRCh38]
Chr8:61748673 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3314A>G (p.Asp1105Gly) |
single nucleotide variant |
not provided [RCV003227147] |
Chr8:60823952 [GRCh38]
Chr8:61736511 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6202G>A (p.Val2068Ile) |
single nucleotide variant |
not provided [RCV003227411] |
Chr8:60852927 [GRCh38]
Chr8:61765486 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2783A>G (p.Lys928Arg) |
single nucleotide variant |
not provided [RCV003227414] |
Chr8:60821875 [GRCh38]
Chr8:61734434 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4215G>C (p.Gln1405His) |
single nucleotide variant |
not provided [RCV003219019] |
Chr8:60837697 [GRCh38]
Chr8:61750256 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs) |
microsatellite |
CHARGE association [RCV003225717] |
Chr8:60865543..60865544 [GRCh38]
Chr8:61778102..61778103 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6273G>A (p.Trp2091Ter) |
single nucleotide variant |
not provided [RCV003229221] |
Chr8:60852998 [GRCh38]
Chr8:61765557 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser) |
single nucleotide variant |
CHARGE association [RCV003225642] |
Chr8:60853096 [GRCh38]
Chr8:61765655 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3378+5G>A |
single nucleotide variant |
not provided [RCV003223990] |
Chr8:60824021 [GRCh38]
Chr8:61736580 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.122T>C (p.Met41Thr) |
single nucleotide variant |
See cases [RCV003224080] |
Chr8:60741554 [GRCh38]
Chr8:61654113 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5875A>T (p.Ile1959Leu) |
single nucleotide variant |
not provided [RCV003159370] |
Chr8:60852228 [GRCh38]
Chr8:61764787 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2107C>A (p.Pro703Thr) |
single nucleotide variant |
not provided [RCV003214138] |
Chr8:60794996 [GRCh38]
Chr8:61707555 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3757_3778+7del |
deletion |
CHARGE association [RCV003221329] |
Chr8:60830554..60830582 [GRCh38]
Chr8:61743113..61743141 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1724G>C (p.Gly575Ala) |
single nucleotide variant |
CHD7-related condition [RCV003420601]|Inborn genetic diseases [RCV003184695] |
Chr8:60781058 [GRCh38]
Chr8:61693617 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.6259C>A (p.Leu2087Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003210578] |
Chr8:60852984 [GRCh38]
Chr8:61765543 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5480del (p.Lys1827fs) |
deletion |
CHARGE association [RCV003158016] |
Chr8:60850567 [GRCh38]
Chr8:61763126 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.720G>A (p.Gln240=) |
single nucleotide variant |
Inborn genetic diseases [RCV003171488] |
Chr8:60742152 [GRCh38]
Chr8:61654711 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8329C>A (p.Pro2777Thr) |
single nucleotide variant |
CHARGE association [RCV003140442] |
Chr8:60865268 [GRCh38]
Chr8:61777827 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4336G>T (p.Glu1446Ter) |
single nucleotide variant |
not provided [RCV003229361] |
Chr8:60837818 [GRCh38]
Chr8:61750377 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4319A>G (p.Gln1440Arg) |
single nucleotide variant |
not provided [RCV003225314] |
Chr8:60837801 [GRCh38]
Chr8:61750360 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6134C>T (p.Pro2045Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003196978] |
Chr8:60852859 [GRCh38]
Chr8:61765418 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5521G>C (p.Asp1841His) |
single nucleotide variant |
not provided [RCV003229173] |
Chr8:60850609 [GRCh38]
Chr8:61763168 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3431del (p.Leu1144fs) |
deletion |
CHARGE association [RCV003226107] |
Chr8:60828715 [GRCh38]
Chr8:61741274 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2010C>G (p.Thr670=) |
single nucleotide variant |
Inborn genetic diseases [RCV003177154] |
Chr8:60781344 [GRCh38]
Chr8:61693903 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1384A>G (p.Ile462Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003177155] |
Chr8:60742816 [GRCh38]
Chr8:61655375 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs) |
deletion |
CHARGE association [RCV003225674] |
Chr8:60861006..60861013 [GRCh38]
Chr8:61773565..61773572 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2333C>G (p.Ala778Gly) |
single nucleotide variant |
CHARGE association [RCV003228723] |
Chr8:60800482 [GRCh38]
Chr8:61713041 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7459G>T (p.Ala2487Ser) |
single nucleotide variant |
not provided [RCV003322106] |
Chr8:60856739 [GRCh38]
Chr8:61769298 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3379-2A>G |
single nucleotide variant |
not provided [RCV003323090] |
Chr8:60828661 [GRCh38]
Chr8:61741220 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.451C>T (p.Gln151Ter) |
single nucleotide variant |
not provided [RCV003322127] |
Chr8:60741883 [GRCh38]
Chr8:61654442 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4644+5G>C |
single nucleotide variant |
CHARGE association [RCV003324720] |
Chr8:60841759 [GRCh38]
Chr8:61754318 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3166A>T (p.Ile1056Phe) |
single nucleotide variant |
not provided [RCV003318984] |
Chr8:60822711 [GRCh38]
Chr8:61735270 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4850+4A>G |
single nucleotide variant |
not provided [RCV003319678] |
Chr8:60842056 [GRCh38]
Chr8:61754615 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4072G>A (p.Asp1358Asn) |
single nucleotide variant |
not provided [RCV003323025] |
Chr8:60836899 [GRCh38]
Chr8:61749458 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4577A>G (p.Asp1526Gly) |
single nucleotide variant |
not provided [RCV003321424] |
Chr8:60841687 [GRCh38]
Chr8:61754246 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1697del (p.Pro566fs) |
deletion |
CHARGE association [RCV003326303] |
Chr8:60781030 [GRCh38]
Chr8:61693589 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1996A>G (p.Lys666Glu) |
single nucleotide variant |
CHARGE association [RCV003777445]|Inborn genetic diseases [RCV003339020] |
Chr8:60781330 [GRCh38]
Chr8:61693889 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.695del (p.Pro232fs) |
deletion |
not provided [RCV003327202] |
Chr8:60742126 [GRCh38]
Chr8:61654685 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.641C>T (p.Ser214Phe) |
single nucleotide variant |
not provided [RCV003328783] |
Chr8:60742073 [GRCh38]
Chr8:61654632 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7602G>T (p.Leu2534Phe) |
single nucleotide variant |
not provided [RCV003325677] |
Chr8:60856882 [GRCh38]
Chr8:61769441 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2544del (p.Asp849fs) |
deletion |
CHARGE association [RCV003327329] |
Chr8:60816428 [GRCh38]
Chr8:61728987 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.311A>G (p.Gln104Arg) |
single nucleotide variant |
CHARGE association [RCV003603157]|not provided [RCV003329941] |
Chr8:60741743 [GRCh38]
Chr8:61654302 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1 |
copy number loss |
CHARGE association [RCV003329548] |
Chr8:61121294..63502403 [GRCh37]
Chr8:8q12.1-12.3 |
pathogenic |
| NM_017780.4(CHD7):c.878G>T (p.Ser293Ile) |
single nucleotide variant |
not provided [RCV003423927] |
Chr8:60742310 [GRCh38]
Chr8:61654869 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs) |
duplication |
CHARGE association [RCV003335814] |
Chr8:60861094..60861095 [GRCh38]
Chr8:61773653..61773654 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.7700C>T (p.Thr2567Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003358726] |
Chr8:60860995 [GRCh38]
Chr8:61773554 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2134A>G (p.Lys712Glu) |
single nucleotide variant |
not provided [RCV003332555] |
Chr8:60795023 [GRCh38]
Chr8:61707582 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4644+1G>A |
single nucleotide variant |
not provided [RCV003332587] |
Chr8:60841755 [GRCh38]
Chr8:61754314 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3541A>G (p.Ile1181Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003379533] |
Chr8:60830340 [GRCh38]
Chr8:61742899 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6936+2T>C |
single nucleotide variant |
CHARGE association [RCV003333635] |
Chr8:60854525 [GRCh38]
Chr8:61767084 [GRCh37]
Chr8:8q12.2 |
pathogenic|likely pathogenic |
| NM_017780.4(CHD7):c.2942del (p.Phe981fs) |
deletion |
Inborn genetic diseases [RCV003364363] |
Chr8:60822127 [GRCh38]
Chr8:61734686 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3166del (p.Ile1056fs) |
deletion |
CHARGE association [RCV003335848] |
Chr8:60822711 [GRCh38]
Chr8:61735270 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8257A>G (p.Met2753Val) |
single nucleotide variant |
CHD7-related condition [RCV003421161] |
Chr8:60865196 [GRCh38]
Chr8:61777755 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1318C>T (p.Pro440Ser) |
single nucleotide variant |
CHD7-related condition [RCV003418909] |
Chr8:60742750 [GRCh38]
Chr8:61655309 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs) |
deletion |
CHARGE association [RCV003333445] |
Chr8:60824002..60824003 [GRCh38]
Chr8:61736561..61736562 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7241C>T (p.Ala2414Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003349958] |
Chr8:60856521 [GRCh38]
Chr8:61769080 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7240G>T (p.Ala2414Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003349959] |
Chr8:60856520 [GRCh38]
Chr8:61769079 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6401A>G (p.Asn2134Ser) |
single nucleotide variant |
CHD7-related condition [RCV003420661]|not provided [RCV003332778] |
Chr8:60853126 [GRCh38]
Chr8:61765685 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs) |
indel |
CHARGE association [RCV003333364] |
Chr8:60844953..60844957 [GRCh38]
Chr8:61757512..61757516 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4133C>T (p.Ala1378Val) |
single nucleotide variant |
not provided [RCV003457161] |
Chr8:60836960 [GRCh38]
Chr8:61749519 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg) |
single nucleotide variant |
CHARGE association [RCV003498009]|not provided [RCV003457536] |
Chr8:60816488 [GRCh38]
Chr8:61729047 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val) |
single nucleotide variant |
CHARGE association [RCV003333414] |
Chr8:60856000 [GRCh38]
Chr8:61768559 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6186dup (p.Lys2063fs) |
duplication |
CHARGE association [RCV003333536] |
Chr8:60852909..60852910 [GRCh38]
Chr8:61765468..61765469 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer) |
deletion |
CHARGE association [RCV003335874] |
Chr8:60848545 [GRCh38]
Chr8:61761104 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr) |
single nucleotide variant |
CHARGE association [RCV003333667] |
Chr8:60844941 [GRCh38]
Chr8:61757500 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val) |
single nucleotide variant |
CHARGE association [RCV003873192] |
Chr8:60861009 [GRCh38]
Chr8:61773568 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4395A>G (p.Arg1465=) |
single nucleotide variant |
CHARGE association [RCV003604234] |
Chr8:60838117 [GRCh38]
Chr8:61750676 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer) |
microsatellite |
CHARGE association [RCV003873609] |
Chr8:60865507..60865508 [GRCh38]
Chr8:61778066..61778067 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5831C>G (p.Pro1944Arg) |
single nucleotide variant |
CHARGE association [RCV003604106] |
Chr8:60852184 [GRCh38]
Chr8:61764743 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8416del (p.Leu2806fs) |
deletion |
CHARGE association [RCV003604174] |
Chr8:60865354 [GRCh38]
Chr8:61777913 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu) |
single nucleotide variant |
CHARGE association [RCV003875668] |
Chr8:60742736 [GRCh38]
Chr8:61655295 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7971+15A>G |
single nucleotide variant |
CHARGE association [RCV003875089] |
Chr8:60862351 [GRCh38]
Chr8:61774910 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6456G>T (p.Gln2152His) |
single nucleotide variant |
CHARGE association [RCV003874845] |
Chr8:60853181 [GRCh38]
Chr8:61765740 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8236G>A (p.Val2746Met) |
single nucleotide variant |
CHARGE association [RCV003874779] |
Chr8:60865175 [GRCh38]
Chr8:61777734 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2377-9T>C |
single nucleotide variant |
CHARGE association [RCV003603605] |
Chr8:60801519 [GRCh38]
Chr8:61714078 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3867T>A (p.Ala1289=) |
single nucleotide variant |
CHARGE association [RCV003603700] |
Chr8:60836161 [GRCh38]
Chr8:61748720 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile) |
single nucleotide variant |
CHARGE association [RCV003448567] |
Chr8:60856745 [GRCh38]
Chr8:61769304 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8177C>T (p.Ala2726Val) |
single nucleotide variant |
CHARGE association [RCV003603814] |
Chr8:60865116 [GRCh38]
Chr8:61777675 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.940C>A (p.Pro314Thr) |
single nucleotide variant |
CHARGE association [RCV003603889] |
Chr8:60742372 [GRCh38]
Chr8:61654931 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5574A>G (p.Lys1858=) |
single nucleotide variant |
CHARGE association [RCV003603892] |
Chr8:60851071 [GRCh38]
Chr8:61763630 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4199_4201del (p.Cys1400_His1401delinsTyr) |
deletion |
not provided [RCV003443592] |
Chr8:60837681..60837683 [GRCh38]
Chr8:61750240..61750242 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3688del (p.Ser1230fs) |
deletion |
CHARGE association [RCV003485010] |
Chr8:60830485 [GRCh38]
Chr8:61743044 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3205C>G (p.Arg1069Gly) |
single nucleotide variant |
CHD7-related condition [RCV003397526] |
Chr8:60823843 [GRCh38]
Chr8:61736402 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3819_3820del (p.His1273fs) |
microsatellite |
CHD7-related condition [RCV003403033] |
Chr8:60836108..60836109 [GRCh38]
Chr8:61748667..61748668 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8187C>G (p.Ala2729=) |
single nucleotide variant |
not provided [RCV003423930] |
Chr8:60865126 [GRCh38]
Chr8:61777685 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6809A>G (p.Glu2270Gly) |
single nucleotide variant |
CHD7-related condition [RCV003404247] |
Chr8:60854396 [GRCh38]
Chr8:61766955 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5894+1G>T |
single nucleotide variant |
CHARGE association [RCV003405209] |
Chr8:60852248 [GRCh38]
Chr8:61764807 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3299G>C (p.Arg1100Pro) |
single nucleotide variant |
not provided [RCV003481888] |
Chr8:60823937 [GRCh38]
Chr8:61736496 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7240G>A (p.Ala2414Thr) |
single nucleotide variant |
CHARGE association [RCV003455863] |
Chr8:60856520 [GRCh38]
Chr8:61769079 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6103+2T>C |
single nucleotide variant |
CHD7-related condition [RCV003400448] |
Chr8:60852708 [GRCh38]
Chr8:61765267 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.2678G>T (p.Ser893Ile) |
single nucleotide variant |
not provided [RCV003481887] |
Chr8:60820071 [GRCh38]
Chr8:61732630 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.487C>T (p.Gln163Ter) |
single nucleotide variant |
CHARGE association [RCV003447717] |
Chr8:60741919 [GRCh38]
Chr8:61654478 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys) |
single nucleotide variant |
CHARGE association [RCV003603163]|not specified [RCV003404768] |
Chr8:60742500 [GRCh38]
Chr8:61655059 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2048A>G (p.Lys683Arg) |
single nucleotide variant |
CHARGE association [RCV003880246] |
Chr8:60781382 [GRCh38]
Chr8:61693941 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6042C>T (p.Tyr2014=) |
single nucleotide variant |
CHARGE association [RCV003603623] |
Chr8:60852645 [GRCh38]
Chr8:61765204 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8304G>C (p.Gln2768His) |
single nucleotide variant |
CHARGE association [RCV003603638] |
Chr8:60865243 [GRCh38]
Chr8:61777802 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1687C>G (p.Leu563Val) |
single nucleotide variant |
not provided [RCV003435506] |
Chr8:60781021 [GRCh38]
Chr8:61693580 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3149_3156delinsGTC (p.Gln1050fs) |
indel |
CHD7-related condition [RCV003400427] |
Chr8:60822694..60822701 [GRCh38]
Chr8:61735253..61735260 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5563C>T (p.Pro1855Ser) |
single nucleotide variant |
CHD7-related condition [RCV003406256] |
Chr8:60851060 [GRCh38]
Chr8:61763619 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1417G>A (p.Gly473Arg) |
single nucleotide variant |
not provided [RCV003481885] |
Chr8:60742849 [GRCh38]
Chr8:61655408 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7687C>G (p.Leu2563Val) |
single nucleotide variant |
CHARGE association [RCV003880418] |
Chr8:60860982 [GRCh38]
Chr8:61773541 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5287G>A (p.Gly1763Ser) |
single nucleotide variant |
CHD7-related condition [RCV003420976] |
Chr8:60848591 [GRCh38]
Chr8:61761150 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.877A>G (p.Ser293Gly) |
single nucleotide variant |
not provided [RCV003443770] |
Chr8:60742309 [GRCh38]
Chr8:61654868 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.518C>T (p.Ala173Val) |
single nucleotide variant |
CHARGE association [RCV003825107] |
Chr8:60741950 [GRCh38]
Chr8:61654509 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3523-19A>T |
single nucleotide variant |
CHARGE association [RCV003388816] |
Chr8:60830303 [GRCh38]
Chr8:61742862 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3482_3483del (p.Thr1161fs) |
microsatellite |
CHD7-related condition [RCV003404287] |
Chr8:60828764..60828765 [GRCh38]
Chr8:61741323..61741324 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.342C>A (p.Pro114=) |
single nucleotide variant |
not provided [RCV003435504] |
Chr8:60741774 [GRCh38]
Chr8:61654333 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.972C>A (p.Asn324Lys) |
single nucleotide variant |
not provided [RCV003435505] |
Chr8:60742404 [GRCh38]
Chr8:61654963 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8601T>C (p.Ala2867=) |
single nucleotide variant |
not provided [RCV003435510] |
Chr8:60865540 [GRCh38]
Chr8:61778099 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2352C>G (p.Ser784=) |
single nucleotide variant |
not provided [RCV003435508] |
Chr8:60800501 [GRCh38]
Chr8:61713060 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1742T>A (p.Val581Glu) |
single nucleotide variant |
not provided [RCV003435507] |
Chr8:60781076 [GRCh38]
Chr8:61693635 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3990-2A>C |
single nucleotide variant |
CHD7-related condition [RCV003394373] |
Chr8:60836815 [GRCh38]
Chr8:61749374 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6629del (p.Glu2210fs) |
deletion |
CHD7-related condition [RCV003397748] |
Chr8:60853354 [GRCh38]
Chr8:61765913 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.609T>A (p.His203Gln) |
single nucleotide variant |
not provided [RCV003423926] |
Chr8:60742041 [GRCh38]
Chr8:61654600 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3202-1G>A |
single nucleotide variant |
not provided [RCV003442543] |
Chr8:60823839 [GRCh38]
Chr8:61736398 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1598A>G (p.His533Arg) |
single nucleotide variant |
CHD7-related condition [RCV003421168] |
Chr8:60743030 [GRCh38]
Chr8:61655589 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8741G>A (p.Gly2914Glu) |
single nucleotide variant |
not provided [RCV003435511] |
Chr8:60865680 [GRCh38]
Chr8:61778239 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4844T>A (p.Val1615Asp) |
single nucleotide variant |
not provided [RCV003435509] |
Chr8:60842046 [GRCh38]
Chr8:61754605 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7529A>G (p.Lys2510Arg) |
single nucleotide variant |
CHD7-related condition [RCV003412338] |
Chr8:60856809 [GRCh38]
Chr8:61769368 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4515dup (p.Gly1506fs) |
duplication |
CHARGE association [RCV003447810] |
Chr8:60838234..60838235 [GRCh38]
Chr8:61750793..61750794 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.586G>A (p.Gly196Arg) |
single nucleotide variant |
CHD7-related condition [RCV003391639] |
Chr8:60742018 [GRCh38]
Chr8:61654577 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8027del (p.Asn2676fs) |
deletion |
CHD7-related condition [RCV003408618] |
Chr8:60862600 [GRCh38]
Chr8:61775159 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val) |
single nucleotide variant |
CHARGE association [RCV003497998]|CHD7-related condition [RCV003414195] |
Chr8:60836273 [GRCh38]
Chr8:61748832 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.8977A>C (p.Asn2993His) |
single nucleotide variant |
CHD7-related condition [RCV003400308] |
Chr8:60865916 [GRCh38]
Chr8:61778475 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1748G>C (p.Ser583Thr) |
single nucleotide variant |
Hypogonadotropic hypogonadism 5 with or without anosmia [RCV003388270] |
Chr8:60781082 [GRCh38]
Chr8:61693641 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2708A>G (p.His903Arg) |
single nucleotide variant |
not provided [RCV003423928] |
Chr8:60821800 [GRCh38]
Chr8:61734359 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8196C>G (p.Ala2732=) |
single nucleotide variant |
not provided [RCV003423931] |
Chr8:60865135 [GRCh38]
Chr8:61777694 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3565C>T (p.Arg1189Cys) |
single nucleotide variant |
not provided [RCV003423929] |
Chr8:60830364 [GRCh38]
Chr8:61742923 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8910C>G (p.Leu2970=) |
single nucleotide variant |
CHARGE association [RCV003603166]|not provided [RCV003423932] |
Chr8:60865849 [GRCh38]
Chr8:61778408 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3285del (p.Asn1096fs) |
deletion |
CHD7-related condition [RCV003402231] |
Chr8:60823922 [GRCh38]
Chr8:61736481 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1204A>G (p.Met402Val) |
single nucleotide variant |
CHARGE association [RCV003498000]|CHD7-related condition [RCV003414586] |
Chr8:60742636 [GRCh38]
Chr8:61655195 [GRCh37]
Chr8:8q12.2 |
benign|uncertain significance |
| NM_017780.4(CHD7):c.6045del (p.Phe2015fs) |
deletion |
CHARGE association [RCV003447742] |
Chr8:60852648 [GRCh38]
Chr8:61765207 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6923C>A (p.Ser2308Ter) |
single nucleotide variant |
CHD7-related condition [RCV003402485] |
Chr8:60854510 [GRCh38]
Chr8:61767069 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8180G>A (p.Arg2727Lys) |
single nucleotide variant |
CHD7-related condition [RCV003410823] |
Chr8:60865119 [GRCh38]
Chr8:61777678 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.748C>A (p.Arg250Ser) |
single nucleotide variant |
CHD7-related condition [RCV003400061] |
Chr8:60742180 [GRCh38]
Chr8:61654739 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8991A>C (p.Glu2997Asp) |
single nucleotide variant |
CHD7-related condition [RCV003400132] |
Chr8:60865930 [GRCh38]
Chr8:61778489 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.110T>C (p.Met37Thr) |
single nucleotide variant |
CHARGE association [RCV003603165]|not provided [RCV003435503] |
Chr8:60741542 [GRCh38]
Chr8:61654101 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3202-6T>C |
single nucleotide variant |
CHARGE association [RCV003602823] |
Chr8:60823834 [GRCh38]
Chr8:61736393 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4636A>C (p.Asn1546His) |
single nucleotide variant |
CHARGE association [RCV003602966] |
Chr8:60841746 [GRCh38]
Chr8:61754305 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2836-10T>A |
single nucleotide variant |
CHARGE association [RCV003602967] |
Chr8:60822014 [GRCh38]
Chr8:61734573 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1489C>A (p.Pro497Thr) |
single nucleotide variant |
CHARGE association [RCV003602910] |
Chr8:60742921 [GRCh38]
Chr8:61655480 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1740A>G (p.Leu580=) |
single nucleotide variant |
CHARGE association [RCV003602718] |
Chr8:60781074 [GRCh38]
Chr8:61693633 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4476A>C (p.Leu1492=) |
single nucleotide variant |
CHARGE association [RCV003602982] |
Chr8:60838198 [GRCh38]
Chr8:61750757 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5300+12C>T |
single nucleotide variant |
CHARGE association [RCV003602983] |
Chr8:60848616 [GRCh38]
Chr8:61761175 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.927_928del (p.Tyr310fs) |
deletion |
CHARGE association [RCV003604056] |
Chr8:60742359..60742360 [GRCh38]
Chr8:61654918..61654919 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8047C>G (p.Pro2683Ala) |
single nucleotide variant |
CHARGE association [RCV003602676] |
Chr8:60862623 [GRCh38]
Chr8:61775182 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3778+20G>C |
single nucleotide variant |
CHARGE association [RCV003602757] |
Chr8:60830597 [GRCh38]
Chr8:61743156 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2162G>A (p.Gly721Asp) |
single nucleotide variant |
CHARGE association [RCV003604115] |
Chr8:60795051 [GRCh38]
Chr8:61707610 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4851-18T>C |
single nucleotide variant |
CHARGE association [RCV003602555] |
Chr8:60844846 [GRCh38]
Chr8:61757405 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1759C>T (p.Leu587=) |
single nucleotide variant |
CHARGE association [RCV003602685] |
Chr8:60781093 [GRCh38]
Chr8:61693652 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2697+12T>C |
single nucleotide variant |
CHARGE association [RCV003602996] |
Chr8:60820102 [GRCh38]
Chr8:61732661 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3779-7T>G |
single nucleotide variant |
CHARGE association [RCV003602999] |
Chr8:60836066 [GRCh38]
Chr8:61748625 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5050+9C>G |
single nucleotide variant |
CHARGE association [RCV003604220] |
Chr8:60845072 [GRCh38]
Chr8:61757631 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5022C>T (p.Gly1674=) |
single nucleotide variant |
CHARGE association [RCV003604232] |
Chr8:60845035 [GRCh38]
Chr8:61757594 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1762C>T (p.Pro588Ser) |
single nucleotide variant |
CHARGE association [RCV003604252] |
Chr8:60781096 [GRCh38]
Chr8:61693655 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5625T>G (p.Pro1875=) |
single nucleotide variant |
CHARGE association [RCV003604272] |
Chr8:60851279 [GRCh38]
Chr8:61763838 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.813C>G (p.His271Gln) |
single nucleotide variant |
CHARGE association [RCV003604276] |
Chr8:60742245 [GRCh38]
Chr8:61654804 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1348A>G (p.Met450Val) |
single nucleotide variant |
CHARGE association [RCV003604287] |
Chr8:60742780 [GRCh38]
Chr8:61655339 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1948A>G (p.Lys650Glu) |
single nucleotide variant |
CHARGE association [RCV003604303] |
Chr8:60781282 [GRCh38]
Chr8:61693841 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7165-16T>C |
single nucleotide variant |
CHARGE association [RCV003604351] |
Chr8:60856429 [GRCh38]
Chr8:61768988 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1035A>C (p.Pro345=) |
single nucleotide variant |
CHARGE association [RCV003602836] |
Chr8:60742467 [GRCh38]
Chr8:61655026 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5250A>G (p.Gln1750=) |
single nucleotide variant |
CHARGE association [RCV003829396] |
Chr8:60848554 [GRCh38]
Chr8:61761113 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8317A>G (p.Met2773Val) |
single nucleotide variant |
CHARGE association [RCV003602849] |
Chr8:60865256 [GRCh38]
Chr8:61777815 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7394T>G (p.Phe2465Cys) |
single nucleotide variant |
CHARGE association [RCV003602813] |
Chr8:60856674 [GRCh38]
Chr8:61769233 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6615G>C (p.Gln2205His) |
single nucleotide variant |
CHARGE association [RCV003603190] |
Chr8:60853340 [GRCh38]
Chr8:61765899 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4683G>A (p.Gln1561=) |
single nucleotide variant |
CHARGE association [RCV003604386] |
Chr8:60841885 [GRCh38]
Chr8:61754444 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle) |
duplication |
CHARGE association [RCV003883295] |
Chr8:60844940..60844941 [GRCh38]
Chr8:61757499..61757500 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=) |
single nucleotide variant |
CHARGE association [RCV003603199]|not provided [RCV003885359] |
Chr8:60822578 [GRCh38]
Chr8:61735137 [GRCh37]
Chr8:8q12.2 |
likely benign|uncertain significance |
| NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn) |
single nucleotide variant |
CHARGE association [RCV003604532] |
Chr8:60781185 [GRCh38]
Chr8:61693744 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6693T>C (p.Ser2231=) |
single nucleotide variant |
CHARGE association [RCV003604562] |
Chr8:60853418 [GRCh38]
Chr8:61765977 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8314C>T (p.Leu2772Phe) |
single nucleotide variant |
CHARGE association [RCV003604574] |
Chr8:60865253 [GRCh38]
Chr8:61777812 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3288T>C (p.Asn1096=) |
single nucleotide variant |
CHARGE association [RCV003604623] |
Chr8:60823926 [GRCh38]
Chr8:61736485 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5939C>A (p.Thr1980Asn) |
single nucleotide variant |
CHARGE association [RCV003604629] |
Chr8:60852542 [GRCh38]
Chr8:61765101 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2670T>C (p.Phe890=) |
single nucleotide variant |
CHARGE association [RCV003602869] |
Chr8:60820063 [GRCh38]
Chr8:61732622 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7830+8T>C |
single nucleotide variant |
CHARGE association [RCV003603011] |
Chr8:60861133 [GRCh38]
Chr8:61773692 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.897C>T (p.Val299=) |
single nucleotide variant |
CHARGE association [RCV003603014] |
Chr8:60742329 [GRCh38]
Chr8:61654888 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2957+11C>G |
single nucleotide variant |
CHARGE association [RCV003603201] |
Chr8:60822156 [GRCh38]
Chr8:61734715 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8076+6T>C |
single nucleotide variant |
CHARGE association [RCV003603202] |
Chr8:60862658 [GRCh38]
Chr8:61775217 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7810G>C (p.Asp2604His) |
single nucleotide variant |
CHARGE association [RCV003604633] |
Chr8:60861105 [GRCh38]
Chr8:61773664 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8836C>A (p.Pro2946Thr) |
single nucleotide variant |
CHARGE association [RCV003602723] |
Chr8:60865775 [GRCh38]
Chr8:61778334 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1665+20A>C |
single nucleotide variant |
CHARGE association [RCV003602877] |
Chr8:60743117 [GRCh38]
Chr8:61655676 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6001G>A (p.Ala2001Thr) |
single nucleotide variant |
CHARGE association [RCV003603019] |
Chr8:60852604 [GRCh38]
Chr8:61765163 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1962G>C (p.Lys654Asn) |
single nucleotide variant |
CHARGE association [RCV003604686] |
Chr8:60781296 [GRCh38]
Chr8:61693855 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5300+8C>A |
single nucleotide variant |
CHARGE association [RCV003604695] |
Chr8:60848612 [GRCh38]
Chr8:61761171 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3369dup (p.Met1124fs) |
duplication |
CHARGE association [RCV003604724] |
Chr8:60824006..60824007 [GRCh38]
Chr8:61736565..61736566 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5301-3C>T |
single nucleotide variant |
CHARGE association [RCV003604784] |
Chr8:60849048 [GRCh38]
Chr8:61761607 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.322C>T (p.Pro108Ser) |
single nucleotide variant |
CHARGE association [RCV003604833] |
Chr8:60741754 [GRCh38]
Chr8:61654313 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.18G>T (p.Met6Ile) |
single nucleotide variant |
CHARGE association [RCV003603027] |
Chr8:60741450 [GRCh38]
Chr8:61654009 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8467G>T (p.Ala2823Ser) |
single nucleotide variant |
CHARGE association [RCV003603614] |
Chr8:60865406 [GRCh38]
Chr8:61777965 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.560A>G (p.Gln187Arg) |
single nucleotide variant |
CHARGE association [RCV003604813] |
Chr8:60741992 [GRCh38]
Chr8:61654551 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8883C>T (p.Ser2961=) |
single nucleotide variant |
CHARGE association [RCV003604825] |
Chr8:60865822 [GRCh38]
Chr8:61778381 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6026A>G (p.Glu2009Gly) |
single nucleotide variant |
CHARGE association [RCV003604897] |
Chr8:60852629 [GRCh38]
Chr8:61765188 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2643T>A (p.Tyr881Ter) |
single nucleotide variant |
CHARGE association [RCV003603228] |
Chr8:60820036 [GRCh38]
Chr8:61732595 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4101G>A (p.Arg1367=) |
single nucleotide variant |
CHARGE association [RCV003603502] |
Chr8:60836928 [GRCh38]
Chr8:61749487 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2260G>C (p.Val754Leu) |
single nucleotide variant |
CHARGE association [RCV003603680] |
Chr8:60800409 [GRCh38]
Chr8:61712968 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6468C>G (p.Val2156=) |
single nucleotide variant |
CHARGE association [RCV003604907] |
Chr8:60853193 [GRCh38]
Chr8:61765752 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7569T>C (p.Asp2523=) |
single nucleotide variant |
CHARGE association [RCV003602759] |
Chr8:60856849 [GRCh38]
Chr8:61769408 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.555C>A (p.His185Gln) |
single nucleotide variant |
CHARGE association [RCV003602927] |
Chr8:60741987 [GRCh38]
Chr8:61654546 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3522+20T>C |
single nucleotide variant |
CHARGE association [RCV003603241] |
Chr8:60828826 [GRCh38]
Chr8:61741385 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8077-17C>T |
single nucleotide variant |
CHARGE association [RCV003604978] |
Chr8:60864999 [GRCh38]
Chr8:61777558 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4645-1G>A |
single nucleotide variant |
CHARGE association [RCV003602551] |
Chr8:60841846 [GRCh38]
Chr8:61754405 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.406C>T (p.Gln136Ter) |
single nucleotide variant |
CHARGE association [RCV003498013] |
Chr8:60741838 [GRCh38]
Chr8:61654397 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3778+11C>T |
single nucleotide variant |
CHARGE association [RCV003605104] |
Chr8:60830588 [GRCh38]
Chr8:61743147 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6251G>A (p.Ser2084Asn) |
single nucleotide variant |
CHARGE association [RCV003602566] |
Chr8:60852976 [GRCh38]
Chr8:61765535 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8176G>T (p.Ala2726Ser) |
single nucleotide variant |
CHARGE association [RCV003602790] |
Chr8:60865115 [GRCh38]
Chr8:61777674 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1957C>G (p.Pro653Ala) |
single nucleotide variant |
CHARGE association [RCV003602937] |
Chr8:60781291 [GRCh38]
Chr8:61693850 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2835+18G>A |
single nucleotide variant |
CHARGE association [RCV003602940] |
Chr8:60821945 [GRCh38]
Chr8:61734504 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.902C>T (p.Ser301Phe) |
single nucleotide variant |
CHARGE association [RCV003602622] |
Chr8:60742334 [GRCh38]
Chr8:61654893 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1653G>A (p.Val551=) |
single nucleotide variant |
CHARGE association [RCV003603022] |
Chr8:60743085 [GRCh38]
Chr8:61655644 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6261G>A (p.Leu2087=) |
single nucleotide variant |
CHARGE association [RCV003602820] |
Chr8:60852986 [GRCh38]
Chr8:61765545 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5114C>T (p.Pro1705Leu) |
single nucleotide variant |
CHARGE association [RCV003602960] |
Chr8:60845313 [GRCh38]
Chr8:61757872 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2849C>T (p.Ala950Val) |
single nucleotide variant |
CHARGE association [RCV003603727] |
Chr8:60822037 [GRCh38]
Chr8:61734596 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7971+17G>T |
single nucleotide variant |
CHARGE association [RCV003603803] |
Chr8:60862353 [GRCh38]
Chr8:61774912 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6776-12C>T |
single nucleotide variant |
CHARGE association [RCV003603850] |
Chr8:60854351 [GRCh38]
Chr8:61766910 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5124G>C (p.Gln1708His) |
single nucleotide variant |
CHARGE association [RCV003604650] |
Chr8:60845323 [GRCh38]
Chr8:61757882 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8077-10T>C |
single nucleotide variant |
CHARGE association [RCV003604652] |
Chr8:60865006 [GRCh38]
Chr8:61777565 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr) |
single nucleotide variant |
CHARGE association [RCV003879000] |
Chr8:60828666 [GRCh38]
Chr8:61741225 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1556C>T (p.Pro519Leu) |
single nucleotide variant |
CHARGE association [RCV003603908] |
Chr8:60742988 [GRCh38]
Chr8:61655547 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3001A>C (p.Ile1001Leu) |
single nucleotide variant |
CHARGE association [RCV003604728] |
Chr8:60822546 [GRCh38]
Chr8:61735105 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6180G>T (p.Leu2060=) |
single nucleotide variant |
CHARGE association [RCV003876151] |
Chr8:60852905 [GRCh38]
Chr8:61765464 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1944G>C (p.Lys648Asn) |
single nucleotide variant |
CHARGE association [RCV003603961] |
Chr8:60781278 [GRCh38]
Chr8:61693837 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1549_1553del (p.Leu517fs) |
deletion |
CHARGE association [RCV003604761] |
Chr8:60742979..60742983 [GRCh38]
Chr8:61655538..61655542 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1004C>T (p.Thr335Ile) |
single nucleotide variant |
CHARGE association [RCV003604794] |
Chr8:60742436 [GRCh38]
Chr8:61654995 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5030G>A (p.Arg1677Gln) |
single nucleotide variant |
CHARGE association [RCV003604815] |
Chr8:60845043 [GRCh38]
Chr8:61757602 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7164+14G>C |
single nucleotide variant |
CHARGE association [RCV003604920] |
Chr8:60856216 [GRCh38]
Chr8:61768775 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5062C>T (p.Pro1688Ser) |
single nucleotide variant |
CHARGE association [RCV003604093] |
Chr8:60845261 [GRCh38]
Chr8:61757820 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8664A>G (p.Leu2888=) |
single nucleotide variant |
CHARGE association [RCV003881260] |
Chr8:60865603 [GRCh38]
Chr8:61778162 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3804G>C (p.Glu1268Asp) |
single nucleotide variant |
CHARGE association [RCV003604944] |
Chr8:60836098 [GRCh38]
Chr8:61748657 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7338G>T (p.Lys2446Asn) |
single nucleotide variant |
CHARGE association [RCV003605018] |
Chr8:60856618 [GRCh38]
Chr8:61769177 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2672C>A (p.Ala891Glu) |
single nucleotide variant |
CHARGE association [RCV003604178] |
Chr8:60820065 [GRCh38]
Chr8:61732624 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2004C>T (p.Pro668=) |
single nucleotide variant |
CHARGE association [RCV003604196] |
Chr8:60781338 [GRCh38]
Chr8:61693897 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1903G>C (p.Asp635His) |
single nucleotide variant |
CHARGE association [RCV003604987] |
Chr8:60781237 [GRCh38]
Chr8:61693796 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4080T>G (p.Phe1360Leu) |
single nucleotide variant |
CHARGE association [RCV003879821] |
Chr8:60836907 [GRCh38]
Chr8:61749466 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6913T>C (p.Phe2305Leu) |
single nucleotide variant |
CHARGE association [RCV003604250] |
Chr8:60854500 [GRCh38]
Chr8:61767059 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6981G>A (p.Val2327=) |
single nucleotide variant |
CHARGE association [RCV003881396] |
Chr8:60856019 [GRCh38]
Chr8:61768578 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1311C>G (p.His437Gln) |
single nucleotide variant |
not provided [RCV003490558] |
Chr8:60742743 [GRCh38]
Chr8:61655302 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7310G>A (p.Gly2437Glu) |
single nucleotide variant |
CHARGE association [RCV003604366] |
Chr8:60856590 [GRCh38]
Chr8:61769149 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.27T>G (p.Leu9=) |
single nucleotide variant |
CHARGE association [RCV003830340] |
Chr8:60741459 [GRCh38]
Chr8:61654018 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.867C>A (p.Thr289=) |
single nucleotide variant |
CHARGE association [RCV003878014] |
Chr8:60742299 [GRCh38]
Chr8:61654858 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.591T>C (p.Asp197=) |
single nucleotide variant |
CHARGE association [RCV003603575] |
Chr8:60742023 [GRCh38]
Chr8:61654582 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.944A>G (p.Tyr315Cys) |
single nucleotide variant |
CHARGE association [RCV003603587] |
Chr8:60742376 [GRCh38]
Chr8:61654935 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8615G>C (p.Gly2872Ala) |
single nucleotide variant |
CHARGE association [RCV003604492] |
Chr8:60865554 [GRCh38]
Chr8:61778113 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8775A>C (p.Ala2925=) |
single nucleotide variant |
CHARGE association [RCV003827748] |
Chr8:60865714 [GRCh38]
Chr8:61778273 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys) |
single nucleotide variant |
CHARGE association [RCV003603629] |
Chr8:60848531 [GRCh38]
Chr8:61761090 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6349C>G (p.Leu2117Val) |
single nucleotide variant |
CHARGE association [RCV003604540] |
Chr8:60853074 [GRCh38]
Chr8:61765633 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8879_8881dup (p.Glu2960_Ser2961insLys) |
duplication |
CHARGE association [RCV003825054] |
Chr8:60865817..60865818 [GRCh38]
Chr8:61778376..61778377 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6485T>G (p.Ile2162Ser) |
single nucleotide variant |
CHARGE association [RCV003603527] |
Chr8:60853210 [GRCh38]
Chr8:61765769 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8818G>A (p.Asp2940Asn) |
single nucleotide variant |
CHARGE association [RCV003604566] |
Chr8:60865757 [GRCh38]
Chr8:61778316 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6894G>C (p.Gln2298His) |
single nucleotide variant |
CHARGE association [RCV003604573] |
Chr8:60854481 [GRCh38]
Chr8:61767040 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6446G>A (p.Gly2149Glu) |
single nucleotide variant |
CHARGE association [RCV003603736] |
Chr8:60853171 [GRCh38]
Chr8:61765730 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7278G>C (p.Gln2426His) |
single nucleotide variant |
CHARGE association [RCV003603749] |
Chr8:60856558 [GRCh38]
Chr8:61769117 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1957C>T (p.Pro653Ser) |
single nucleotide variant |
CHARGE association [RCV003603758] |
Chr8:60781291 [GRCh38]
Chr8:61693850 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1785A>G (p.Gln595=) |
single nucleotide variant |
CHARGE association [RCV003603760] |
Chr8:60781119 [GRCh38]
Chr8:61693678 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1451G>T (p.Gly484Val) |
single nucleotide variant |
CHARGE association [RCV003603761] |
Chr8:60742883 [GRCh38]
Chr8:61655442 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1186A>G (p.Met396Val) |
single nucleotide variant |
CHARGE association [RCV003603782] |
Chr8:60742618 [GRCh38]
Chr8:61655177 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5637G>A (p.Lys1879=) |
single nucleotide variant |
CHARGE association [RCV003602598] |
Chr8:60851291 [GRCh38]
Chr8:61763850 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2880G>A (p.Arg960=) |
single nucleotide variant |
CHARGE association [RCV003602609] |
Chr8:60822068 [GRCh38]
Chr8:61734627 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5518G>C (p.Ala1840Pro) |
single nucleotide variant |
CHARGE association [RCV003604318] |
Chr8:60850606 [GRCh38]
Chr8:61763165 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6918C>G (p.Ala2306=) |
single nucleotide variant |
CHARGE association [RCV003604631] |
Chr8:60854505 [GRCh38]
Chr8:61767064 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7834A>C (p.Asn2612His) |
single nucleotide variant |
CHARGE association [RCV003604666] |
Chr8:60862199 [GRCh38]
Chr8:61774758 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile) |
single nucleotide variant |
CHARGE association [RCV003876448] |
Chr8:60865061 [GRCh38]
Chr8:61777620 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5436C>G (p.Asp1812Glu) |
single nucleotide variant |
CHARGE association [RCV003486496] |
Chr8:60850524 [GRCh38]
Chr8:61763083 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4644+15C>A |
single nucleotide variant |
CHARGE association [RCV003604841] |
Chr8:60841769 [GRCh38]
Chr8:61754328 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7657C>T (p.Pro2553Ser) |
single nucleotide variant |
CHARGE association [RCV003604946] |
Chr8:60860952 [GRCh38]
Chr8:61773511 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7706T>C (p.Ile2569Thr) |
single nucleotide variant |
CHARGE association [RCV003604955] |
Chr8:60861001 [GRCh38]
Chr8:61773560 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5050+17C>T |
single nucleotide variant |
CHARGE association [RCV003605039] |
Chr8:60845080 [GRCh38]
Chr8:61757639 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.677T>A (p.Phe226Tyr) |
single nucleotide variant |
CHARGE association [RCV003605083] |
Chr8:60742109 [GRCh38]
Chr8:61654668 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.36G>A (p.Glu12=) |
single nucleotide variant |
CHARGE association [RCV003830341] |
Chr8:60741468 [GRCh38]
Chr8:61654027 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1136A>G (p.Gln379Arg) |
single nucleotide variant |
CHARGE association [RCV003831262] |
Chr8:60742568 [GRCh38]
Chr8:61655127 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1356C>T (p.Pro452=) |
single nucleotide variant |
CHARGE association [RCV003603832] |
Chr8:60742788 [GRCh38]
Chr8:61655347 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8482A>G (p.Thr2828Ala) |
single nucleotide variant |
CHARGE association [RCV003603860] |
Chr8:60865421 [GRCh38]
Chr8:61777980 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5665+18C>G |
single nucleotide variant |
CHARGE association [RCV003603893] |
Chr8:60851337 [GRCh38]
Chr8:61763896 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2442+11T>C |
single nucleotide variant |
CHARGE association [RCV003603983] |
Chr8:60801604 [GRCh38]
Chr8:61714163 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5708G>A (p.Trp1903Ter) |
single nucleotide variant |
CHARGE association [RCV003602550] |
Chr8:60852061 [GRCh38]
Chr8:61764620 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.3989+2T>G |
single nucleotide variant |
CHARGE association [RCV003604157] |
Chr8:60836285 [GRCh38]
Chr8:61748844 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.5400A>T (p.Lys1800Asn) |
single nucleotide variant |
CHARGE association [RCV003604264] |
Chr8:60849150 [GRCh38]
Chr8:61761709 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3325A>G (p.Arg1109Gly) |
single nucleotide variant |
CHARGE association [RCV003604267] |
Chr8:60823963 [GRCh38]
Chr8:61736522 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5647A>G (p.Met1883Val) |
single nucleotide variant |
CHARGE association [RCV003602592] |
Chr8:60851301 [GRCh38]
Chr8:61763860 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2443-8T>G |
single nucleotide variant |
CHARGE association [RCV003604942] |
Chr8:60808209 [GRCh38]
Chr8:61720768 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8823G>A (p.Lys2941=) |
single nucleotide variant |
CHARGE association [RCV003825514] |
Chr8:60865762 [GRCh38]
Chr8:61778321 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1497A>G (p.Gln499=) |
single nucleotide variant |
CHARGE association [RCV003603675] |
Chr8:60742929 [GRCh38]
Chr8:61655488 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4230A>G (p.Lys1410=) |
single nucleotide variant |
CHARGE association [RCV003604454] |
Chr8:60837712 [GRCh38]
Chr8:61750271 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6321C>A (p.His2107Gln) |
single nucleotide variant |
CHARGE association [RCV003604456] |
Chr8:60853046 [GRCh38]
Chr8:61765605 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8244C>G (p.Ser2748Arg) |
single nucleotide variant |
CHARGE association [RCV003604965] |
Chr8:60865183 [GRCh38]
Chr8:61777742 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1665+10C>G |
single nucleotide variant |
CHARGE association [RCV003882047] |
Chr8:60743107 [GRCh38]
Chr8:61655666 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4851-4G>T |
single nucleotide variant |
CHARGE association [RCV003603796] |
Chr8:60844860 [GRCh38]
Chr8:61757419 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1096C>T (p.Pro366Ser) |
single nucleotide variant |
CHARGE association [RCV003603798] |
Chr8:60742528 [GRCh38]
Chr8:61655087 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2558A>T (p.Gln853Leu) |
single nucleotide variant |
CHARGE association [RCV003603689] |
Chr8:60816446 [GRCh38]
Chr8:61729005 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3155G>C (p.Ser1052Thr) |
single nucleotide variant |
CHARGE association [RCV003603816] |
Chr8:60822700 [GRCh38]
Chr8:61735259 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1070G>A (p.Ser357Asn) |
single nucleotide variant |
CHARGE association [RCV003604493] |
Chr8:60742502 [GRCh38]
Chr8:61655061 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3202-18T>C |
single nucleotide variant |
CHARGE association [RCV003828587] |
Chr8:60823822 [GRCh38]
Chr8:61736381 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6672C>T (p.Gly2224=) |
single nucleotide variant |
CHARGE association [RCV003603848] |
Chr8:60853397 [GRCh38]
Chr8:61765956 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7914A>C (p.Ile2638=) |
single nucleotide variant |
CHARGE association [RCV003603865] |
Chr8:60862279 [GRCh38]
Chr8:61774838 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2766G>A (p.Gln922=) |
single nucleotide variant |
CHARGE association [RCV003878060] |
Chr8:60821858 [GRCh38]
Chr8:61734417 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8362G>A (p.Asp2788Asn) |
single nucleotide variant |
CHARGE association [RCV003604513] |
Chr8:60865301 [GRCh38]
Chr8:61777860 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.1561C>G (p.Pro521Ala) |
single nucleotide variant |
CHARGE association [RCV003604887] |
Chr8:60742993 [GRCh38]
Chr8:61655552 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4644+14C>A |
single nucleotide variant |
CHARGE association [RCV003604932] |
Chr8:60841768 [GRCh38]
Chr8:61754327 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2270A>G (p.Lys757Arg) |
single nucleotide variant |
CHARGE association [RCV003603877] |
Chr8:60800419 [GRCh38]
Chr8:61712978 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8610G>C (p.Ala2870=) |
single nucleotide variant |
CHARGE association [RCV003603878] |
Chr8:60865549 [GRCh38]
Chr8:61778108 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3990-10T>A |
single nucleotide variant |
CHARGE association [RCV003603884] |
Chr8:60836807 [GRCh38]
Chr8:61749366 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5272G>A (p.Asp1758Asn) |
single nucleotide variant |
CHARGE association [RCV003603905] |
Chr8:60848576 [GRCh38]
Chr8:61761135 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5894+15G>T |
single nucleotide variant |
CHARGE association [RCV003605033] |
Chr8:60852262 [GRCh38]
Chr8:61764821 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8933G>C (p.Gly2978Ala) |
single nucleotide variant |
CHARGE association [RCV003603941] |
Chr8:60865872 [GRCh38]
Chr8:61778431 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5607+6A>G |
single nucleotide variant |
CHARGE association [RCV003603949] |
Chr8:60851110 [GRCh38]
Chr8:61763669 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4736T>C (p.Leu1579Ser) |
single nucleotide variant |
CHARGE association [RCV003876445] |
Chr8:60841938 [GRCh38]
Chr8:61754497 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2916G>A (p.Gln972=) |
single nucleotide variant |
CHARGE association [RCV003604522] |
Chr8:60822104 [GRCh38]
Chr8:61734663 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4721T>C (p.Met1574Thr) |
single nucleotide variant |
CHARGE association [RCV003604572] |
Chr8:60841923 [GRCh38]
Chr8:61754482 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5655del (p.His1886fs) |
deletion |
CHARGE association [RCV003605081] |
Chr8:60851309 [GRCh38]
Chr8:61763868 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5209A>T (p.Lys1737Ter) |
single nucleotide variant |
CHARGE association [RCV003605064] |
Chr8:60845408 [GRCh38]
Chr8:61757967 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7097_7098delinsAT (p.Leu2366His) |
indel |
CHARGE association [RCV003605097] |
Chr8:60856135..60856136 [GRCh38]
Chr8:61768694..61768695 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7586A>G (p.His2529Arg) |
single nucleotide variant |
CHARGE association [RCV003603980] |
Chr8:60856866 [GRCh38]
Chr8:61769425 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.800A>G (p.Glu267Gly) |
single nucleotide variant |
CHARGE association [RCV003604137] |
Chr8:60742232 [GRCh38]
Chr8:61654791 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1428G>A (p.Arg476=) |
single nucleotide variant |
CHARGE association [RCV003604589] |
Chr8:60742860 [GRCh38]
Chr8:61655419 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5366A>G (p.Glu1789Gly) |
single nucleotide variant |
CHARGE association [RCV003604591] |
Chr8:60849116 [GRCh38]
Chr8:61761675 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.988C>A (p.Gln330Lys) |
single nucleotide variant |
CHARGE association [RCV003604595] |
Chr8:60742420 [GRCh38]
Chr8:61654979 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2836-16A>C |
single nucleotide variant |
CHARGE association [RCV003603914] |
Chr8:60822008 [GRCh38]
Chr8:61734567 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6104-12del |
deletion |
CHARGE association [RCV003604167] |
Chr8:60852816 [GRCh38]
Chr8:61765375 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3198C>G (p.Pro1066=) |
single nucleotide variant |
CHARGE association [RCV003604640] |
Chr8:60822743 [GRCh38]
Chr8:61735302 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4257C>T (p.Ser1419=) |
single nucleotide variant |
CHARGE association [RCV003880413] |
Chr8:60837739 [GRCh38]
Chr8:61750298 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.34G>A (p.Glu12Lys) |
single nucleotide variant |
CHARGE association [RCV003881154] |
Chr8:60741466 [GRCh38]
Chr8:61654025 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8105G>T (p.Arg2702Leu) |
single nucleotide variant |
CHARGE association [RCV003604200] |
Chr8:60865044 [GRCh38]
Chr8:61777603 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8146A>G (p.Arg2716Gly) |
single nucleotide variant |
CHARGE association [RCV003604205] |
Chr8:60865085 [GRCh38]
Chr8:61777644 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8953G>T (p.Asp2985Tyr) |
single nucleotide variant |
CHARGE association [RCV003604677] |
Chr8:60865892 [GRCh38]
Chr8:61778451 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2898C>T (p.Asn966=) |
single nucleotide variant |
CHARGE association [RCV003604228] |
Chr8:60822086 [GRCh38]
Chr8:61734645 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4524A>G (p.Thr1508=) |
single nucleotide variant |
CHARGE association [RCV003604246] |
Chr8:60838246 [GRCh38]
Chr8:61750805 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7830+5G>A |
single nucleotide variant |
CHARGE association [RCV003604711] |
Chr8:60861130 [GRCh38]
Chr8:61773689 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.81T>C (p.Cys27=) |
single nucleotide variant |
CHARGE association [RCV003604712] |
Chr8:60741513 [GRCh38]
Chr8:61654072 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3522+19T>C |
single nucleotide variant |
CHARGE association [RCV003604112] |
Chr8:60828825 [GRCh38]
Chr8:61741384 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala) |
single nucleotide variant |
CHARGE association [RCV003604117] |
Chr8:60849143 [GRCh38]
Chr8:61761702 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7377A>G (p.Ser2459=) |
single nucleotide variant |
CHARGE association [RCV003604256] |
Chr8:60856657 [GRCh38]
Chr8:61769216 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.467T>A (p.Ile156Lys) |
single nucleotide variant |
CHARGE association [RCV003881383] |
Chr8:60741899 [GRCh38]
Chr8:61654458 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6594C>T (p.Gly2198=) |
single nucleotide variant |
CHARGE association [RCV003604273] |
Chr8:60853319 [GRCh38]
Chr8:61765878 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4757del (p.Lys1586fs) |
deletion |
CHARGE association [RCV003604282] |
Chr8:60841956 [GRCh38]
Chr8:61754515 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5607+13G>A |
single nucleotide variant |
CHARGE association [RCV003604766] |
Chr8:60851117 [GRCh38]
Chr8:61763676 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4746T>G (p.Asp1582Glu) |
single nucleotide variant |
CHARGE association [RCV003875867] |
Chr8:60841948 [GRCh38]
Chr8:61754507 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6240C>G (p.Leu2080=) |
single nucleotide variant |
CHARGE association [RCV003877178] |
Chr8:60852965 [GRCh38]
Chr8:61765524 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5050+5G>T |
single nucleotide variant |
CHARGE association [RCV003604302] |
Chr8:60845068 [GRCh38]
Chr8:61757627 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT |
indel |
CHARGE association [RCV003604803] |
Chr8:60848820..60849136 [GRCh38]
Chr8:61761379..61761695 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.1666-5C>A |
single nucleotide variant |
CHARGE association [RCV003604850] |
Chr8:60780995 [GRCh38]
Chr8:61693554 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5707T>C (p.Trp1903Arg) |
single nucleotide variant |
CHARGE association [RCV003604367] |
Chr8:60852060 [GRCh38]
Chr8:61764619 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6936+9G>A |
single nucleotide variant |
CHARGE association [RCV003604873] |
Chr8:60854532 [GRCh38]
Chr8:61767091 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3061G>T (p.Val1021Leu) |
single nucleotide variant |
CHARGE association [RCV003604878] |
Chr8:60822606 [GRCh38]
Chr8:61735165 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.712G>C (p.Val238Leu) |
single nucleotide variant |
CHARGE association [RCV003604879] |
Chr8:60742144 [GRCh38]
Chr8:61654703 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3379-12G>C |
single nucleotide variant |
CHARGE association [RCV003603625] |
Chr8:60828651 [GRCh38]
Chr8:61741210 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4613C>G (p.Ala1538Gly) |
single nucleotide variant |
CHARGE association [RCV003604411] |
Chr8:60841723 [GRCh38]
Chr8:61754282 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8105dup (p.Leu2703fs) |
duplication |
CHARGE association [RCV003604917] |
Chr8:60865043..60865044 [GRCh38]
Chr8:61777602..61777603 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7313A>G (p.Gln2438Arg) |
single nucleotide variant |
CHARGE association [RCV003604926] |
Chr8:60856593 [GRCh38]
Chr8:61769152 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7490T>C (p.Leu2497Pro) |
single nucleotide variant |
CHARGE association [RCV003603513] |
Chr8:60856770 [GRCh38]
Chr8:61769329 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.257C>T (p.Pro86Leu) |
single nucleotide variant |
CHARGE association [RCV003878209] |
Chr8:60741689 [GRCh38]
Chr8:61654248 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.155C>G (p.Pro52Arg) |
single nucleotide variant |
CHARGE association [RCV003603696] |
Chr8:60741587 [GRCh38]
Chr8:61654146 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.355G>C (p.Gly119Arg) |
single nucleotide variant |
CHARGE association [RCV003498909] |
Chr8:60741787 [GRCh38]
Chr8:61654346 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3885T>A (p.Ile1295=) |
single nucleotide variant |
CHARGE association [RCV003498916] |
Chr8:60836179 [GRCh38]
Chr8:61748738 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.692G>C (p.Gly231Ala) |
single nucleotide variant |
CHARGE association [RCV003498929] |
Chr8:60742124 [GRCh38]
Chr8:61654683 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2822A>C (p.Glu941Ala) |
single nucleotide variant |
CHARGE association [RCV003498186] |
Chr8:60821914 [GRCh38]
Chr8:61734473 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5547T>G (p.Asp1849Glu) |
single nucleotide variant |
CHARGE association [RCV003499137] |
Chr8:60851044 [GRCh38]
Chr8:61763603 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2198C>T (p.Pro733Leu) |
single nucleotide variant |
CHARGE association [RCV003499193] |
Chr8:60795087 [GRCh38]
Chr8:61707646 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6784G>C (p.Val2262Leu) |
single nucleotide variant |
CHARGE association [RCV003497524] |
Chr8:60854371 [GRCh38]
Chr8:61766930 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2697+7G>A |
single nucleotide variant |
CHARGE association [RCV003497600] |
Chr8:60820097 [GRCh38]
Chr8:61732656 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.749G>A (p.Arg250His) |
single nucleotide variant |
CHARGE association [RCV003497676] |
Chr8:60742181 [GRCh38]
Chr8:61654740 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5534+19A>C |
single nucleotide variant |
CHARGE association [RCV003497489] |
Chr8:60850641 [GRCh38]
Chr8:61763200 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4698T>G (p.Ser1566Arg) |
single nucleotide variant |
CHARGE association [RCV003497536] |
Chr8:60841900 [GRCh38]
Chr8:61754459 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8045C>A (p.Ala2682Asp) |
single nucleotide variant |
CHARGE association [RCV003498261] |
Chr8:60862621 [GRCh38]
Chr8:61775180 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8077-12C>T |
single nucleotide variant |
CHARGE association [RCV003498278] |
Chr8:60865004 [GRCh38]
Chr8:61777563 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.935G>C (p.Arg312Pro) |
single nucleotide variant |
CHARGE association [RCV003498320] |
Chr8:60742367 [GRCh38]
Chr8:61654926 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.292C>T (p.Leu98Phe) |
single nucleotide variant |
CHARGE association [RCV003497749] |
Chr8:60741724 [GRCh38]
Chr8:61654283 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1201G>A (p.Ala401Thr) |
single nucleotide variant |
CHARGE association [RCV003497713] |
Chr8:60742633 [GRCh38]
Chr8:61655192 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6710C>A (p.Ser2237Tyr) |
single nucleotide variant |
CHARGE association [RCV003603304] |
Chr8:60853435 [GRCh38]
Chr8:61765994 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp) |
single nucleotide variant |
CHARGE association [RCV003603270] |
Chr8:60781201 [GRCh38]
Chr8:61693760 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3990-11A>T |
single nucleotide variant |
CHARGE association [RCV003603336] |
Chr8:60836806 [GRCh38]
Chr8:61749365 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8184A>C (p.Ala2728=) |
single nucleotide variant |
CHARGE association [RCV003603351] |
Chr8:60865123 [GRCh38]
Chr8:61777682 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2327A>G (p.Asp776Gly) |
single nucleotide variant |
CHARGE association [RCV003850444] |
Chr8:60800476 [GRCh38]
Chr8:61713035 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8510A>G (p.Glu2837Gly) |
single nucleotide variant |
CHARGE association [RCV003603379] |
Chr8:60865449 [GRCh38]
Chr8:61778008 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3423G>A (p.Val1141=) |
single nucleotide variant |
CHARGE association [RCV003603381] |
Chr8:60828707 [GRCh38]
Chr8:61741266 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3565C>G (p.Arg1189Gly) |
single nucleotide variant |
CHARGE association [RCV003603422] |
Chr8:60830364 [GRCh38]
Chr8:61742923 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.778C>A (p.Pro260Thr) |
single nucleotide variant |
CHARGE association [RCV003603280] |
Chr8:60742210 [GRCh38]
Chr8:61654769 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3990-9G>A |
single nucleotide variant |
CHARGE association [RCV003603547] |
Chr8:60836808 [GRCh38]
Chr8:61749367 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7446G>A (p.Met2482Ile) |
single nucleotide variant |
CHARGE association [RCV003603507] |
Chr8:60856726 [GRCh38]
Chr8:61769285 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.747G>A (p.Leu249=) |
single nucleotide variant |
CHARGE association [RCV003603517] |
Chr8:60742179 [GRCh38]
Chr8:61654738 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.531C>T (p.Pro177=) |
single nucleotide variant |
CHARGE association [RCV003603532] |
Chr8:60741963 [GRCh38]
Chr8:61654522 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4534-12T>C |
single nucleotide variant |
CHARGE association [RCV003603394] |
Chr8:60841632 [GRCh38]
Chr8:61754191 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1120A>G (p.Asn374Asp) |
single nucleotide variant |
CHARGE association [RCV003498359] |
Chr8:60742552 [GRCh38]
Chr8:61655111 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1037_1046del (p.Arg346fs) |
deletion |
CHARGE association [RCV003499020] |
Chr8:60742465..60742474 [GRCh38]
Chr8:61655024..61655033 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5384T>C (p.Leu1795Ser) |
single nucleotide variant |
CHARGE association [RCV003498268] |
Chr8:60849134 [GRCh38]
Chr8:61761693 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6282A>T (p.Gly2094=) |
single nucleotide variant |
CHARGE association [RCV003499249] |
Chr8:60853007 [GRCh38]
Chr8:61765566 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4748C>T (p.Ser1583Phe) |
single nucleotide variant |
CHARGE association [RCV003499305] |
Chr8:60841950 [GRCh38]
Chr8:61754509 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4162T>C (p.Trp1388Arg) |
single nucleotide variant |
CHARGE association [RCV003499313] |
Chr8:60836989 [GRCh38]
Chr8:61749548 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.709C>T (p.His237Tyr) |
single nucleotide variant |
CHARGE association [RCV003498458] |
Chr8:60742141 [GRCh38]
Chr8:61654700 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3705A>T (p.Gln1235His) |
single nucleotide variant |
CHARGE association [RCV003832387] |
Chr8:60830504 [GRCh38]
Chr8:61743063 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2117A>T (p.Glu706Val) |
single nucleotide variant |
CHARGE association [RCV003499295] |
Chr8:60795006 [GRCh38]
Chr8:61707565 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1525C>T (p.Gln509Ter) |
single nucleotide variant |
CHARGE association [RCV003498992] |
Chr8:60742957 [GRCh38]
Chr8:61655516 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4779T>G (p.Arg1593=) |
single nucleotide variant |
CHARGE association [RCV003497491] |
Chr8:60841981 [GRCh38]
Chr8:61754540 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3688T>G (p.Ser1230Ala) |
single nucleotide variant |
CHARGE association [RCV003497543] |
Chr8:60830487 [GRCh38]
Chr8:61743046 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4385A>G (p.Asp1462Gly) |
single nucleotide variant |
CHARGE association [RCV003497625] |
Chr8:60838107 [GRCh38]
Chr8:61750666 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7925C>T (p.Thr2642Ile) |
single nucleotide variant |
CHARGE association [RCV003498607] |
Chr8:60862290 [GRCh38]
Chr8:61774849 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5689G>T (p.Glu1897Ter) |
single nucleotide variant |
CHARGE association [RCV003499134] |
Chr8:60852042 [GRCh38]
Chr8:61764601 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1250_1259del (p.Ser417fs) |
deletion |
CHARGE association [RCV003497750] |
Chr8:60742682..60742691 [GRCh38]
Chr8:61655241..61655250 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.1180C>T (p.Pro394Ser) |
single nucleotide variant |
CHARGE association [RCV003497779] |
Chr8:60742612 [GRCh38]
Chr8:61655171 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6381A>G (p.Ala2127=) |
single nucleotide variant |
CHARGE association [RCV003497789] |
Chr8:60853106 [GRCh38]
Chr8:61765665 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3483A>C (p.Thr1161=) |
single nucleotide variant |
CHARGE association [RCV003498711] |
Chr8:60828767 [GRCh38]
Chr8:61741326 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7930_7934del (p.Glu2644fs) |
deletion |
CHARGE association [RCV003498731] |
Chr8:60862293..60862297 [GRCh38]
Chr8:61774852..61774856 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.746T>C (p.Leu249Ser) |
single nucleotide variant |
CHARGE association [RCV003499462] |
Chr8:60742178 [GRCh38]
Chr8:61654737 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5005A>C (p.Thr1669Pro) |
single nucleotide variant |
CHARGE association [RCV003498070] |
Chr8:60845018 [GRCh38]
Chr8:61757577 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8076+14G>T |
single nucleotide variant |
CHARGE association [RCV003498804] |
Chr8:60862666 [GRCh38]
Chr8:61775225 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.924G>T (p.Gly308=) |
single nucleotide variant |
CHARGE association [RCV003499203] |
Chr8:60742356 [GRCh38]
Chr8:61654915 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3078C>T (p.Ser1026=) |
single nucleotide variant |
CHARGE association [RCV003499342] |
Chr8:60822623 [GRCh38]
Chr8:61735182 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2175A>C (p.Ser725=) |
single nucleotide variant |
CHARGE association [RCV003498096] |
Chr8:60795064 [GRCh38]
Chr8:61707623 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7609-12A>C |
single nucleotide variant |
CHARGE association [RCV003498131] |
Chr8:60860892 [GRCh38]
Chr8:61773451 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8875G>A (p.Glu2959Lys) |
single nucleotide variant |
CHARGE association [RCV003498809] |
Chr8:60865814 [GRCh38]
Chr8:61778373 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5301-10T>G |
single nucleotide variant |
CHARGE association [RCV003499233] |
Chr8:60849041 [GRCh38]
Chr8:61761600 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7840_7841dup (p.Asp2614fs) |
duplication |
CHARGE association [RCV003499286] |
Chr8:60862203..60862204 [GRCh38]
Chr8:61774762..61774763 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.8837C>A (p.Pro2946His) |
single nucleotide variant |
CHARGE association [RCV003499645] |
Chr8:60865776 [GRCh38]
Chr8:61778335 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2677A>G (p.Ser893Gly) |
single nucleotide variant |
CHARGE association [RCV003499860] |
Chr8:60820070 [GRCh38]
Chr8:61732629 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3924G>A (p.Arg1308=) |
single nucleotide variant |
CHARGE association [RCV003603302] |
Chr8:60836218 [GRCh38]
Chr8:61748777 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2239-4T>G |
single nucleotide variant |
CHARGE association [RCV003603326] |
Chr8:60800384 [GRCh38]
Chr8:61712943 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3595G>T (p.Ala1199Ser) |
single nucleotide variant |
CHARGE association [RCV003603359] |
Chr8:60830394 [GRCh38]
Chr8:61742953 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8984A>G (p.Asn2995Ser) |
single nucleotide variant |
CHARGE association [RCV003603363] |
Chr8:60865923 [GRCh38]
Chr8:61778482 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5585C>T (p.Thr1862Ile) |
single nucleotide variant |
CHARGE association [RCV003603389] |
Chr8:60851082 [GRCh38]
Chr8:61763641 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7938G>C (p.Arg2646Ser) |
single nucleotide variant |
CHARGE association [RCV003603399] |
Chr8:60862303 [GRCh38]
Chr8:61774862 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5926C>T (p.Arg1976Cys) |
single nucleotide variant |
CHARGE association [RCV003834477] |
Chr8:60852529 [GRCh38]
Chr8:61765088 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.881C>G (p.Ser294Cys) |
single nucleotide variant |
CHARGE association [RCV003603279] |
Chr8:60742313 [GRCh38]
Chr8:61654872 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.770A>G (p.His257Arg) |
single nucleotide variant |
CHARGE association [RCV003497498] |
Chr8:60742202 [GRCh38]
Chr8:61654761 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3591C>T (p.Asn1197=) |
single nucleotide variant |
CHARGE association [RCV003497614] |
Chr8:60830390 [GRCh38]
Chr8:61742949 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6776-15T>G |
single nucleotide variant |
CHARGE association [RCV003497690] |
Chr8:60854348 [GRCh38]
Chr8:61766907 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.499_516del (p.Pro167_Pro172del) |
deletion |
CHARGE association [RCV003497775] |
Chr8:60741930..60741947 [GRCh38]
Chr8:61654489..61654506 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2076C>T (p.Pro692=) |
single nucleotide variant |
CHARGE association [RCV003497813] |
Chr8:60781410 [GRCh38]
Chr8:61693969 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1581T>C (p.Ser527=) |
single nucleotide variant |
CHARGE association [RCV003603485] |
Chr8:60743013 [GRCh38]
Chr8:61655572 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1277G>A (p.Ser426Asn) |
single nucleotide variant |
CHARGE association [RCV003837120] |
Chr8:60742709 [GRCh38]
Chr8:61655268 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7000G>C (p.Val2334Leu) |
single nucleotide variant |
CHARGE association [RCV003603521] |
Chr8:60856038 [GRCh38]
Chr8:61768597 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4886G>C (p.Arg1629Pro) |
single nucleotide variant |
CHARGE association [RCV003498260] |
Chr8:60844899 [GRCh38]
Chr8:61757458 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7940T>C (p.Val2647Ala) |
single nucleotide variant |
CHARGE association [RCV003498100] |
Chr8:60862305 [GRCh38]
Chr8:61774864 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3606A>G (p.Glu1202=) |
single nucleotide variant |
CHARGE association [RCV003850139] |
Chr8:60830405 [GRCh38]
Chr8:61742964 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3320_3333dup (p.Asn1112delinsProThrGlyTer) |
duplication |
CHARGE association [RCV003498440] |
Chr8:60823952..60823953 [GRCh38]
Chr8:61736511..61736512 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7831-20A>G |
single nucleotide variant |
CHARGE association [RCV003833209] |
Chr8:60862176 [GRCh38]
Chr8:61774735 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4216_4217del (p.Ser1406fs) |
microsatellite |
CHARGE association [RCV003498558] |
Chr8:60837696..60837697 [GRCh38]
Chr8:61750255..61750256 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6117C>A (p.Leu2039=) |
single nucleotide variant |
CHARGE association [RCV003498729] |
Chr8:60852842 [GRCh38]
Chr8:61765401 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6399A>G (p.Gln2133=) |
single nucleotide variant |
CHARGE association [RCV003498730] |
Chr8:60853124 [GRCh38]
Chr8:61765683 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6242del (p.Cys2081fs) |
deletion |
CHARGE association [RCV003498753] |
Chr8:60852967 [GRCh38]
Chr8:61765526 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.636G>T (p.Gln212His) |
single nucleotide variant |
CHARGE association [RCV003498824] |
Chr8:60742068 [GRCh38]
Chr8:61654627 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3201+10C>T |
single nucleotide variant |
CHARGE association [RCV003499076] |
Chr8:60822756 [GRCh38]
Chr8:61735315 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6653T>C (p.Leu2218Pro) |
single nucleotide variant |
CHARGE association [RCV003499671] |
Chr8:60853378 [GRCh38]
Chr8:61765937 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.2698-19T>G |
single nucleotide variant |
CHARGE association [RCV003499680] |
Chr8:60821771 [GRCh38]
Chr8:61734330 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5210+12G>C |
single nucleotide variant |
CHARGE association [RCV003498709] |
Chr8:60845421 [GRCh38]
Chr8:61757980 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.478T>A (p.Tyr160Asn) |
single nucleotide variant |
CHARGE association [RCV003498806] |
Chr8:60741910 [GRCh38]
Chr8:61654469 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7308T>A (p.Asn2436Lys) |
single nucleotide variant |
CHARGE association [RCV003603497] |
Chr8:60856588 [GRCh38]
Chr8:61769147 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4217G>A (p.Ser1406Asn) |
single nucleotide variant |
CHARGE association [RCV003498967] |
Chr8:60837699 [GRCh38]
Chr8:61750258 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6791G>C (p.Arg2264Thr) |
single nucleotide variant |
CHARGE association [RCV003498991] |
Chr8:60854378 [GRCh38]
Chr8:61766937 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7165-3T>C |
single nucleotide variant |
CHARGE association [RCV003814770] |
Chr8:60856442 [GRCh38]
Chr8:61769001 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5815C>T (p.Arg1939Trp) |
single nucleotide variant |
CHARGE association [RCV003499237] |
Chr8:60852168 [GRCh38]
Chr8:61764727 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1666-16T>C |
single nucleotide variant |
CHARGE association [RCV003499507] |
Chr8:60780984 [GRCh38]
Chr8:61693543 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5211-18C>A |
single nucleotide variant |
CHARGE association [RCV003499719] |
Chr8:60848497 [GRCh38]
Chr8:61761056 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.829C>G (p.Pro277Ala) |
single nucleotide variant |
CHARGE association [RCV003499748] |
Chr8:60742261 [GRCh38]
Chr8:61654820 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.546C>T (p.His182=) |
single nucleotide variant |
CHARGE association [RCV003839460] |
Chr8:60741978 [GRCh38]
Chr8:61654537 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8308G>A (p.Ala2770Thr) |
single nucleotide variant |
CHARGE association [RCV003816896] |
Chr8:60865247 [GRCh38]
Chr8:61777806 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.789T>C (p.Ala263=) |
single nucleotide variant |
CHARGE association [RCV003499635] |
Chr8:60742221 [GRCh38]
Chr8:61654780 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1666-20T>C |
single nucleotide variant |
CHARGE association [RCV003850883] |
Chr8:60780980 [GRCh38]
Chr8:61693539 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6369CTT[1] (p.Phe2124del) |
microsatellite |
CHARGE association [RCV003499909] |
Chr8:60853094..60853096 [GRCh38]
Chr8:61765653..61765655 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8004T>G (p.Asp2668Glu) |
single nucleotide variant |
CHARGE association [RCV003499891] |
Chr8:60862580 [GRCh38]
Chr8:61775139 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5633A>T (p.Asp1878Val) |
single nucleotide variant |
CHARGE association [RCV003499945] |
Chr8:60851287 [GRCh38]
Chr8:61763846 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2442+12del |
deletion |
CHARGE association [RCV003498216] |
Chr8:60801604 [GRCh38]
Chr8:61714163 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4859G>T (p.Arg1620Leu) |
single nucleotide variant |
CHARGE association [RCV003498468] |
Chr8:60844872 [GRCh38]
Chr8:61757431 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7913_7914del (p.Ile2638fs) |
microsatellite |
CHARGE association [RCV003498524] |
Chr8:60862275..60862276 [GRCh38]
Chr8:61774834..61774835 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6690A>G (p.Lys2230=) |
single nucleotide variant |
CHARGE association [RCV003498786] |
Chr8:60853415 [GRCh38]
Chr8:61765974 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2232T>G (p.Gly744=) |
single nucleotide variant |
CHARGE association [RCV003838656] |
Chr8:60795121 [GRCh38]
Chr8:61707680 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7804A>G (p.Thr2602Ala) |
single nucleotide variant |
CHARGE association [RCV003811781] |
Chr8:60861099 [GRCh38]
Chr8:61773658 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8131G>A (p.Gly2711Arg) |
single nucleotide variant |
CHARGE association [RCV003497373] |
Chr8:60865070 [GRCh38]
Chr8:61777629 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.901T>C (p.Ser301Pro) |
single nucleotide variant |
CHARGE association [RCV003497374] |
Chr8:60742333 [GRCh38]
Chr8:61654892 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.421A>T (p.Ser141Cys) |
single nucleotide variant |
CHARGE association [RCV003499160] |
Chr8:60741853 [GRCh38]
Chr8:61654412 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1928A>C (p.Lys643Thr) |
single nucleotide variant |
CHARGE association [RCV003497666] |
Chr8:60781262 [GRCh38]
Chr8:61693821 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8262C>T (p.Asp2754=) |
single nucleotide variant |
CHARGE association [RCV003497587] |
Chr8:60865201 [GRCh38]
Chr8:61777760 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2224G>A (p.Asp742Asn) |
single nucleotide variant |
CHARGE association [RCV003814615] |
Chr8:60795113 [GRCh38]
Chr8:61707672 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7258del (p.Leu2420fs) |
deletion |
CHARGE association [RCV003499292] |
Chr8:60856538 [GRCh38]
Chr8:61769097 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7357A>G (p.Ser2453Gly) |
single nucleotide variant |
CHARGE association [RCV003497714] |
Chr8:60856637 [GRCh38]
Chr8:61769196 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5050+13C>T |
single nucleotide variant |
CHARGE association [RCV003499465] |
Chr8:60845076 [GRCh38]
Chr8:61757635 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8957G>A (p.Gly2986Glu) |
single nucleotide variant |
CHARGE association [RCV003499469] |
Chr8:60865896 [GRCh38]
Chr8:61778455 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7301C>G (p.Ser2434Ter) |
single nucleotide variant |
CHARGE association [RCV003498263] |
Chr8:60856581 [GRCh38]
Chr8:61769140 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.6744C>T (p.Asp2248=) |
single nucleotide variant |
CHARGE association [RCV003499519] |
Chr8:60853469 [GRCh38]
Chr8:61766028 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8713C>T (p.Pro2905Ser) |
single nucleotide variant |
CHARGE association [RCV003499543] |
Chr8:60865652 [GRCh38]
Chr8:61778211 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7798A>G (p.Thr2600Ala) |
single nucleotide variant |
CHARGE association [RCV003499564] |
Chr8:60861093 [GRCh38]
Chr8:61773652 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3421G>A (p.Val1141Met) |
single nucleotide variant |
CHARGE association [RCV003499418] |
Chr8:60828705 [GRCh38]
Chr8:61741264 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1365dup (p.Gln456fs) |
duplication |
CHARGE association [RCV003498170] |
Chr8:60742796..60742797 [GRCh38]
Chr8:61655355..61655356 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2755_2756delinsCG (p.Glu919Arg) |
indel |
CHARGE association [RCV003498291] |
Chr8:60821847..60821848 [GRCh38]
Chr8:61734406..61734407 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8590G>C (p.Val2864Leu) |
single nucleotide variant |
CHARGE association [RCV003498519] |
Chr8:60865529 [GRCh38]
Chr8:61778088 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7164+16T>C |
single nucleotide variant |
CHARGE association [RCV003499870] |
Chr8:60856218 [GRCh38]
Chr8:61768777 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1886T>C (p.Leu629Pro) |
single nucleotide variant |
CHARGE association [RCV003499936] |
Chr8:60781220 [GRCh38]
Chr8:61693779 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3847C>T (p.Gln1283Ter) |
single nucleotide variant |
CHARGE association [RCV003499947] |
Chr8:60836141 [GRCh38]
Chr8:61748700 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu) |
single nucleotide variant |
CHARGE association [RCV003499949] |
Chr8:60850622 [GRCh38]
Chr8:61763181 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4641G>C (p.Gly1547=) |
single nucleotide variant |
CHARGE association [RCV003603353] |
Chr8:60841751 [GRCh38]
Chr8:61754310 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7849T>C (p.Phe2617Leu) |
single nucleotide variant |
CHARGE association [RCV003497527] |
Chr8:60862214 [GRCh38]
Chr8:61774773 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8391C>T (p.Pro2797=) |
single nucleotide variant |
CHARGE association [RCV003497395] |
Chr8:60865330 [GRCh38]
Chr8:61777889 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7717A>G (p.Asn2573Asp) |
single nucleotide variant |
CHARGE association [RCV003603451] |
Chr8:60861012 [GRCh38]
Chr8:61773571 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2022T>C (p.Pro674=) |
single nucleotide variant |
CHARGE association [RCV003603476] |
Chr8:60781356 [GRCh38]
Chr8:61693915 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6826A>G (p.Met2276Val) |
single nucleotide variant |
CHARGE association [RCV003497756] |
Chr8:60854413 [GRCh38]
Chr8:61766972 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6933T>C (p.Pro2311=) |
single nucleotide variant |
CHARGE association [RCV003812170] |
Chr8:60854520 [GRCh38]
Chr8:61767079 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5931G>A (p.Val1977=) |
single nucleotide variant |
CHARGE association [RCV003498160] |
Chr8:60852534 [GRCh38]
Chr8:61765093 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1439G>T (p.Cys480Phe) |
single nucleotide variant |
CHARGE association [RCV003499550] |
Chr8:60742871 [GRCh38]
Chr8:61655430 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6734T>C (p.Leu2245Pro) |
single nucleotide variant |
CHARGE association [RCV003499588] |
Chr8:60853459 [GRCh38]
Chr8:61766018 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7831-12T>C |
single nucleotide variant |
CHARGE association [RCV003499598] |
Chr8:60862184 [GRCh38]
Chr8:61774743 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5300+11G>A |
single nucleotide variant |
CHARGE association [RCV003499622] |
Chr8:60848615 [GRCh38]
Chr8:61761174 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4139C>A (p.Thr1380Asn) |
single nucleotide variant |
CHARGE association [RCV003498176] |
Chr8:60836966 [GRCh38]
Chr8:61749525 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1510C>G (p.Gln504Glu) |
single nucleotide variant |
CHARGE association [RCV003498215] |
Chr8:60742942 [GRCh38]
Chr8:61655501 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5888G>T (p.Arg1963Leu) |
single nucleotide variant |
CHARGE association [RCV003498503] |
Chr8:60852241 [GRCh38]
Chr8:61764800 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5553A>G (p.Glu1851=) |
single nucleotide variant |
CHARGE association [RCV003498544] |
Chr8:60851050 [GRCh38]
Chr8:61763609 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4394G>A (p.Arg1465Gln) |
single nucleotide variant |
CHARGE association [RCV003498574] |
Chr8:60838116 [GRCh38]
Chr8:61750675 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7391A>G (p.Lys2464Arg) |
single nucleotide variant |
CHARGE association [RCV003498617] |
Chr8:60856671 [GRCh38]
Chr8:61769230 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4236C>G (p.Tyr1412Ter) |
single nucleotide variant |
CHARGE association [RCV003498439] |
Chr8:60837718 [GRCh38]
Chr8:61750277 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.4664C>A (p.Thr1555Asn) |
single nucleotide variant |
CHARGE association [RCV003498507] |
Chr8:60841866 [GRCh38]
Chr8:61754425 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.530C>T (p.Pro177Leu) |
single nucleotide variant |
CHARGE association [RCV003498832] |
Chr8:60741962 [GRCh38]
Chr8:61654521 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5535-19T>C |
single nucleotide variant |
CHARGE association [RCV003498833] |
Chr8:60851013 [GRCh38]
Chr8:61763572 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.327C>T (p.Pro109=) |
single nucleotide variant |
CHARGE association [RCV003499900] |
Chr8:60741759 [GRCh38]
Chr8:61654318 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7455C>T (p.Leu2485=) |
single nucleotide variant |
CHARGE association [RCV003498695] |
Chr8:60856735 [GRCh38]
Chr8:61769294 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5608-10T>A |
single nucleotide variant |
CHARGE association [RCV003498886] |
Chr8:60851252 [GRCh38]
Chr8:61763811 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.473C>A (p.Ala158Asp) |
single nucleotide variant |
CHARGE association [RCV003498941] |
Chr8:60741905 [GRCh38]
Chr8:61654464 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7612G>A (p.Asp2538Asn) |
single nucleotide variant |
CHARGE association [RCV003499170] |
Chr8:60860907 [GRCh38]
Chr8:61773466 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8255G>T (p.Gly2752Val) |
single nucleotide variant |
CHARGE association [RCV003499364] |
Chr8:60865194 [GRCh38]
Chr8:61777753 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6776-1G>A |
single nucleotide variant |
CHARGE association [RCV003499369] |
Chr8:60854362 [GRCh38]
Chr8:61766921 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.6348C>G (p.Ile2116Met) |
single nucleotide variant |
CHARGE association [RCV003499510] |
Chr8:60853073 [GRCh38]
Chr8:61765632 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7821T>C (p.Ser2607=) |
single nucleotide variant |
CHARGE association [RCV003499471] |
Chr8:60861116 [GRCh38]
Chr8:61773675 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5499A>G (p.Gln1833=) |
single nucleotide variant |
CHARGE association [RCV003499489] |
Chr8:60850587 [GRCh38]
Chr8:61763146 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6908G>C (p.Arg2303Thr) |
single nucleotide variant |
CHARGE association [RCV003499534] |
Chr8:60854495 [GRCh38]
Chr8:61767054 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6531G>A (p.Glu2177=) |
single nucleotide variant |
CHARGE association [RCV003499630] |
Chr8:60853256 [GRCh38]
Chr8:61765815 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6439G>A (p.Ala2147Thr) |
single nucleotide variant |
CHARGE association [RCV003499587] |
Chr8:60853164 [GRCh38]
Chr8:61765723 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.7959A>C (p.Arg2653=) |
single nucleotide variant |
CHARGE association [RCV003499546] |
Chr8:60862324 [GRCh38]
Chr8:61774883 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.3351G>C (p.Leu1117=) |
single nucleotide variant |
CHARGE association [RCV003499566] |
Chr8:60823989 [GRCh38]
Chr8:61736548 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2037G>A (p.Glu679=) |
single nucleotide variant |
CHARGE association [RCV003499612] |
Chr8:60781371 [GRCh38]
Chr8:61693930 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5608-7T>G |
single nucleotide variant |
CHARGE association [RCV003499559]|CHD7-related condition [RCV003984384] |
Chr8:60851255 [GRCh38]
Chr8:61763814 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7171G>T (p.Ala2391Ser) |
single nucleotide variant |
CHARGE association [RCV003499621] |
Chr8:60856451 [GRCh38]
Chr8:61769010 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8439C>G (p.Gly2813=) |
single nucleotide variant |
CHARGE association [RCV003499595] |
Chr8:60865378 [GRCh38]
Chr8:61777937 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.539A>G (p.Gln180Arg) |
single nucleotide variant |
CHARGE association [RCV003499777] |
Chr8:60741971 [GRCh38]
Chr8:61654530 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8056A>G (p.Thr2686Ala) |
single nucleotide variant |
CHARGE association [RCV003499611] |
Chr8:60862632 [GRCh38]
Chr8:61775191 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2626C>A (p.Leu876Ile) |
single nucleotide variant |
CHARGE association [RCV003499753] |
Chr8:60820019 [GRCh38]
Chr8:61732578 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6369C>T (p.Ser2123=) |
single nucleotide variant |
CHARGE association [RCV003499788] |
Chr8:60853094 [GRCh38]
Chr8:61765653 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.327C>G (p.Pro109=) |
single nucleotide variant |
CHARGE association [RCV003822909] |
Chr8:60741759 [GRCh38]
Chr8:61654318 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6412G>A (p.Gly2138Ser) |
single nucleotide variant |
CHARGE association [RCV003864719] |
Chr8:60853137 [GRCh38]
Chr8:61765696 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6873C>T (p.Asp2291=) |
single nucleotide variant |
CHARGE association [RCV003841638]|CHD7-related condition [RCV003956607] |
Chr8:60854460 [GRCh38]
Chr8:61767019 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6103+3A>G |
single nucleotide variant |
CHARGE association [RCV003824191] |
Chr8:60852709 [GRCh38]
Chr8:61765268 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6305T>G (p.Val2102Gly) |
single nucleotide variant |
CHARGE association [RCV003818617] |
Chr8:60853030 [GRCh38]
Chr8:61765589 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.669A>G (p.Gly223=) |
single nucleotide variant |
CHARGE association [RCV003822414] |
Chr8:60742101 [GRCh38]
Chr8:61654660 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2377-16A>G |
single nucleotide variant |
CHARGE association [RCV003823887] |
Chr8:60801512 [GRCh38]
Chr8:61714071 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1761G>T (p.Leu587=) |
single nucleotide variant |
CHARGE association [RCV003863486] |
Chr8:60781095 [GRCh38]
Chr8:61693654 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6033G>A (p.Leu2011=) |
single nucleotide variant |
CHARGE association [RCV003840498] |
Chr8:60852636 [GRCh38]
Chr8:61765195 [GRCh37]
Chr8:8q12.2 |
likely benign |
| GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 |
copy number gain |
not specified [RCV003986754] |
Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3 |
pathogenic |
| NM_017780.4(CHD7):c.2498+15del |
deletion |
CHARGE association [RCV003868849] |
Chr8:60808287 [GRCh38]
Chr8:61720846 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3522+4T>G |
single nucleotide variant |
CHARGE association [RCV003859764] |
Chr8:60828810 [GRCh38]
Chr8:61741369 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6681T>G (p.Thr2227=) |
single nucleotide variant |
CHARGE association [RCV003853595] |
Chr8:60853406 [GRCh38]
Chr8:61765965 [GRCh37]
Chr8:8q12.2 |
benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not specified [RCV003986742] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017780.4(CHD7):c.6992A>G (p.Lys2331Arg) |
single nucleotide variant |
CHARGE association [RCV003871469] |
Chr8:60856030 [GRCh38]
Chr8:61768589 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1181C>T (p.Pro394Leu) |
single nucleotide variant |
CHARGE association [RCV003871478] |
Chr8:60742613 [GRCh38]
Chr8:61655172 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6118T>C (p.Ser2040Pro) |
single nucleotide variant |
CHARGE association [RCV003871519] |
Chr8:60852843 [GRCh38]
Chr8:61765402 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4917A>G (p.Val1639=) |
single nucleotide variant |
CHARGE association [RCV003871881] |
Chr8:60844930 [GRCh38]
Chr8:61757489 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter) |
single nucleotide variant |
CHARGE association [RCV003985957] |
Chr8:60865448 [GRCh38]
Chr8:61778007 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.4824G>A (p.Arg1608=) |
single nucleotide variant |
CHARGE association [RCV003872124] |
Chr8:60842026 [GRCh38]
Chr8:61754585 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7504dup (p.Leu2502fs) |
duplication |
CHARGE association [RCV003985974] |
Chr8:60856781..60856782 [GRCh38]
Chr8:61769340..61769341 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.8175C>T (p.Ile2725=) |
single nucleotide variant |
CHARGE association [RCV003864898] |
Chr8:60865114 [GRCh38]
Chr8:61777673 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.5379C>T (p.Ser1793=) |
single nucleotide variant |
CHARGE association [RCV003866754] |
Chr8:60849129 [GRCh38]
Chr8:61761688 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5608-20T>A |
single nucleotide variant |
CHARGE association [RCV003869140] |
Chr8:60851242 [GRCh38]
Chr8:61763801 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7192C>T (p.Arg2398Cys) |
single nucleotide variant |
CHD7-related condition [RCV003893584]|not provided [RCV003885301] |
Chr8:60856472 [GRCh38]
Chr8:61769031 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5666-18G>A |
single nucleotide variant |
CHARGE association [RCV003857671] |
Chr8:60852001 [GRCh38]
Chr8:61764560 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6373T>C (p.Leu2125=) |
single nucleotide variant |
CHARGE association [RCV003867946] |
Chr8:60853098 [GRCh38]
Chr8:61765657 [GRCh37]
Chr8:8q12.2 |
benign |
| GRCh37/hg19 8q12.1-12.2(chr8:61007747-61901412)x1 |
copy number loss |
not specified [RCV003986769] |
Chr8:61007747..61901412 [GRCh37]
Chr8:8q12.1-12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter) |
single nucleotide variant |
CHARGE association [RCV003842924] |
Chr8:60822096 [GRCh38]
Chr8:61734655 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.5985C>T (p.Asn1995=) |
single nucleotide variant |
CHARGE association [RCV003871250] |
Chr8:60852588 [GRCh38]
Chr8:61765147 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4899A>T (p.Gln1633His) |
single nucleotide variant |
CHARGE association [RCV003870033] |
Chr8:60844912 [GRCh38]
Chr8:61757471 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5277G>A (p.Lys1759=) |
single nucleotide variant |
CHARGE association [RCV003857464] |
Chr8:60848581 [GRCh38]
Chr8:61761140 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr) |
single nucleotide variant |
CHARGE association [RCV003843949] |
Chr8:60816409 [GRCh38]
Chr8:61728968 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.2730A>G (p.Ser910=) |
single nucleotide variant |
CHARGE association [RCV003867772] |
Chr8:60821822 [GRCh38]
Chr8:61734381 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.6993A>G (p.Lys2331=) |
single nucleotide variant |
CHARGE association [RCV003867773] |
Chr8:60856031 [GRCh38]
Chr8:61768590 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.466A>G (p.Ile156Val) |
single nucleotide variant |
CHARGE association [RCV003865491] |
Chr8:60741898 [GRCh38]
Chr8:61654457 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2442+10A>G |
single nucleotide variant |
CHARGE association [RCV003823577] |
Chr8:60801603 [GRCh38]
Chr8:61714162 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1870G>A (p.Val624Ile) |
single nucleotide variant |
CHARGE association [RCV003860654] |
Chr8:60781204 [GRCh38]
Chr8:61693763 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7363A>G (p.Thr2455Ala) |
single nucleotide variant |
CHARGE association [RCV003859723] |
Chr8:60856643 [GRCh38]
Chr8:61769202 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.8933G>A (p.Gly2978Asp) |
single nucleotide variant |
CHARGE association [RCV003824132] |
Chr8:60865872 [GRCh38]
Chr8:61778431 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg) |
single nucleotide variant |
CHARGE association [RCV003864481] |
Chr8:60742907 [GRCh38]
Chr8:61655466 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5666-16T>G |
single nucleotide variant |
CHARGE association [RCV003822518] |
Chr8:60852003 [GRCh38]
Chr8:61764562 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8920G>A (p.Glu2974Lys) |
single nucleotide variant |
CHARGE association [RCV003848362] |
Chr8:60865859 [GRCh38]
Chr8:61778418 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.6921C>T (p.Phe2307=) |
single nucleotide variant |
CHARGE association [RCV003820370] |
Chr8:60854508 [GRCh38]
Chr8:61767067 [GRCh37]
Chr8:8q12.2 |
benign |
| NM_017780.4(CHD7):c.4420G>A (p.Asp1474Asn) |
single nucleotide variant |
not provided [RCV003887489] |
Chr8:60838142 [GRCh38]
Chr8:61750701 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.7972-7T>C |
single nucleotide variant |
CHD7-related condition [RCV003899598] |
Chr8:60862541 [GRCh38]
Chr8:61775100 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.*6_*17del |
deletion |
CHD7-related condition [RCV003901592] |
Chr8:60865934..60865945 [GRCh38]
Chr8:61778493..61778504 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5665+1G>A |
single nucleotide variant |
CHD7-related condition [RCV003926816] |
Chr8:60851320 [GRCh38]
Chr8:61763879 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.7402C>T (p.Pro2468Ser) |
single nucleotide variant |
CHARGE association [RCV003985187] |
Chr8:60856682 [GRCh38]
Chr8:61769241 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.2053del (p.Ala685fs) |
deletion |
CHD7-related condition [RCV003976563] |
Chr8:60781387 [GRCh38]
Chr8:61693946 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.957T>C (p.Asn319=) |
single nucleotide variant |
CHD7-related condition [RCV003911680] |
Chr8:60742389 [GRCh38]
Chr8:61654948 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4132G>C (p.Ala1378Pro) |
single nucleotide variant |
See cases [RCV003985701] |
Chr8:60836959 [GRCh38]
Chr8:61749518 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2922G>A (p.Glu974=) |
single nucleotide variant |
CHD7-related condition [RCV003967049] |
Chr8:60822110 [GRCh38]
Chr8:61734669 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.7518G>A (p.Glu2506=) |
single nucleotide variant |
CHD7-related condition [RCV003934740] |
Chr8:60856798 [GRCh38]
Chr8:61769357 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5501G>C (p.Arg1834Thr) |
single nucleotide variant |
CHD7-related condition [RCV003966847] |
Chr8:60850589 [GRCh38]
Chr8:61763148 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.6378T>C (p.Asp2126=) |
single nucleotide variant |
not provided [RCV003887438] |
Chr8:60853103 [GRCh38]
Chr8:61765662 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5313G>A (p.Val1771=) |
single nucleotide variant |
CHD7-related condition [RCV003941996] |
Chr8:60849063 [GRCh38]
Chr8:61761622 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3597C>T (p.Ala1199=) |
single nucleotide variant |
CHD7-related condition [RCV003893711] |
Chr8:60830396 [GRCh38]
Chr8:61742955 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4527T>G (p.Phe1509Leu) |
single nucleotide variant |
CHARGE association [RCV003988959] |
Chr8:60838249 [GRCh38]
Chr8:61750808 [GRCh37] |
uncertain significance |
| NM_017780.4(CHD7):c.1363A>G (p.Met455Val) |
single nucleotide variant |
CHD7-related condition [RCV003971754] |
Chr8:60742795 [GRCh38]
Chr8:61655354 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8004T>C (p.Asp2668=) |
single nucleotide variant |
CHD7-related condition [RCV003894565] |
Chr8:60862580 [GRCh38]
Chr8:61775139 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4213C>T (p.Gln1405Ter) |
single nucleotide variant |
CHD7-related condition [RCV003932236] |
Chr8:60837695 [GRCh38]
Chr8:61750254 [GRCh37]
Chr8:8q12.2 |
pathogenic |
| NM_017780.4(CHD7):c.2682A>T (p.Thr894=) |
single nucleotide variant |
CHD7-related condition [RCV003944602] |
Chr8:60820075 [GRCh38]
Chr8:61732634 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4001A>G (p.Glu1334Gly) |
single nucleotide variant |
CHARGE association [RCV003985147] |
Chr8:60836828 [GRCh38]
Chr8:61749387 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.5190C>T (p.His1730=) |
single nucleotide variant |
CHD7-related condition [RCV003951913] |
Chr8:60845389 [GRCh38]
Chr8:61757948 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3535C>A (p.Gln1179Lys) |
single nucleotide variant |
not provided [RCV003887073] |
Chr8:60830334 [GRCh38]
Chr8:61742893 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.3779-10A>T |
single nucleotide variant |
CHD7-related condition [RCV003896883] |
Chr8:60836063 [GRCh38]
Chr8:61748622 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.3818del (p.His1273fs) |
deletion |
CHARGE association [RCV003886330] |
Chr8:60836112 [GRCh38]
Chr8:61748671 [GRCh37]
Chr8:8q12.2 |
likely pathogenic |
| NM_017780.4(CHD7):c.3249A>G (p.Thr1083=) |
single nucleotide variant |
CHD7-related condition [RCV003934638] |
Chr8:60823887 [GRCh38]
Chr8:61736446 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5446T>C (p.Cys1816Arg) |
single nucleotide variant |
CHD7-related condition [RCV003911479] |
Chr8:60850534 [GRCh38]
Chr8:61763093 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.470G>A (p.Arg157Gln) |
single nucleotide variant |
not provided [RCV003884921] |
Chr8:60741902 [GRCh38]
Chr8:61654461 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.701A>G (p.His234Arg) |
single nucleotide variant |
CHD7-related condition [RCV003972297] |
Chr8:60742133 [GRCh38]
Chr8:61654692 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.828C>A (p.Ser276=) |
single nucleotide variant |
not provided [RCV003886954] |
Chr8:60742260 [GRCh38]
Chr8:61654819 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.8037T>G (p.Phe2679Leu) |
single nucleotide variant |
not provided [RCV003887221] |
Chr8:60862613 [GRCh38]
Chr8:61775172 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.4455A>G (p.Glu1485=) |
single nucleotide variant |
CHD7-related condition [RCV003942114] |
Chr8:60838177 [GRCh38]
Chr8:61750736 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.5076A>G (p.Gly1692=) |
single nucleotide variant |
CHD7-related condition [RCV003893944] |
Chr8:60845275 [GRCh38]
Chr8:61757834 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.1697C>G (p.Pro566Arg) |
single nucleotide variant |
not provided [RCV003884330] |
Chr8:60781031 [GRCh38]
Chr8:61693590 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.8428T>A (p.Phe2810Ile) |
single nucleotide variant |
CHD7-related condition [RCV003896312] |
Chr8:60865367 [GRCh38]
Chr8:61777926 [GRCh37]
Chr8:8q12.2 |
likely benign |
| NM_017780.4(CHD7):c.4192G>A (p.Ala1398Thr) |
single nucleotide variant |
CHARGE association [RCV003885424] |
Chr8:60837674 [GRCh38]
Chr8:61750233 [GRCh37]
Chr8:8q12.2 |
uncertain significance |
| NM_017780.4(CHD7):c.165T>C (p.His55=) |
single nucleotide variant |
CHD7-related condition [RCV003974385] |
Chr8:60741597 [GRCh38]
Chr8:61654156 [GRCh37]
Chr8:8q12.2 |
likely benign |
