NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000020683] |
Chr12:123744335 [GRCh38] Chr12:124228882 [GRCh37] Chr12:12q24.31 |
pathogenic|not provided |
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) |
deletion |
Cutis laxa with osteodystrophy [RCV000020684] |
Chr12:123748779 [GRCh38] Chr12:124233326 [GRCh37] Chr12:12q24.31 |
pathogenic|likely pathogenic |
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del |
deletion |
Cutis laxa with osteodystrophy [RCV000020685] |
Chr12:123754417..123754418 [GRCh38] Chr12:124238964..124238965 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000020686] |
Chr12:123756823 [GRCh38] Chr12:124241370 [GRCh37] Chr12:12q24.31 |
benign|not provided |
NM_012463.4(ATP6V0A2):c.*115C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000020687] |
Chr12:123758147 [GRCh38] Chr12:124242694 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.294+1G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000020688]|Wrinkly skin syndrome [RCV000000889] |
Chr12:123722449 [GRCh38] Chr12:124206996 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) |
deletion |
Cutis laxa with osteodystrophy [RCV000020689] |
Chr12:123724712..123724713 [GRCh38] Chr12:124209259..124209260 [GRCh37] Chr12:12q24.31 |
pathogenic|not provided |
NM_012463.4(ATP6V0A2):c.732-2A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502507]|Cutis laxa with osteodystrophy [RCV000020690]|not provided [RCV002281042] |
Chr12:123735529 [GRCh38] Chr12:124220076 [GRCh37] Chr12:12q24.31 |
pathogenic|not provided |
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) |
deletion |
Cutis laxa with osteodystrophy [RCV000020691] |
Chr12:123737072 [GRCh38] Chr12:124221619 [GRCh37] Chr12:12q24.31 |
pathogenic|not provided |
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) |
deletion |
Cutis laxa with osteodystrophy [RCV000032647] |
Chr12:123756876..123756882 [GRCh38] Chr12:124241423..124241429 [GRCh37] Chr12:12q24.31 |
pathogenic |
ATP6V0A2, 1-BP INS, 100A |
insertion |
Cutis laxa with osteodystrophy [RCV000032648] |
Chr12:12q24.3 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000000887] |
Chr12:123754537 [GRCh38] Chr12:124239084 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502506]|Cutis laxa [RCV004579513]|Cutis laxa with osteodystrophy [RCV000000888]|Cutis laxa with osteodystrophy [RCV005007801]|not provided [RCV000790836] |
Chr12:123718692 [GRCh38] Chr12:124203239 [GRCh37] Chr12:12q24.31 |
pathogenic |
ATP6V0A2, 10132G-A |
single nucleotide variant |
Wrinkly skin syndrome [RCV000000889] |
Chr12:12q24.3 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000640158]|Cutis laxa with osteodystrophy [RCV001111400] |
Chr12:123756860 [GRCh38] Chr12:124241407 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001078478]|not provided [RCV000728258] |
Chr12:123737073 [GRCh38] Chr12:124221620 [GRCh37] Chr12:12q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NC_000012.12:g.123712122T>C |
single nucleotide variant |
not provided [RCV001564696] |
Chr12:123712122 [GRCh38] Chr12:124196669 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001412196]|Cutis laxa with osteodystrophy [RCV001111307]|not provided [RCV000728672] |
Chr12:123737187 [GRCh38] Chr12:124221734 [GRCh37] Chr12:12q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002064054]|ATP6V0A2-related disorder [RCV003935681]|not specified [RCV000605764] |
Chr12:123735567 [GRCh38] Chr12:124220114 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp) |
single nucleotide variant |
not provided [RCV000519336] |
Chr12:123727849 [GRCh38] Chr12:124212396 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002527632]|Cutis laxa with osteodystrophy [RCV000763804]|Inborn genetic diseases [RCV004678730]|not provided [RCV000520087] |
Chr12:123737251 [GRCh38] Chr12:124221798 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1401C>G (p.Ile467Met) |
single nucleotide variant |
not specified [RCV000518196] |
Chr12:123744671 [GRCh38] Chr12:124229218 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 |
copy number gain |
See cases [RCV000050866] |
Chr12:118165459..133182322 [GRCh38] Chr12:118603264..133758908 [GRCh37] Chr12:117087647..132268981 [NCBI36] Chr12:12q24.23-24.33 |
pathogenic |
GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1 |
copy number loss |
See cases [RCV000051345] |
Chr12:122985202..130714574 [GRCh38] Chr12:123469749..131199119 [GRCh37] Chr12:122035702..129765072 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 |
copy number gain |
See cases [RCV000051151] |
Chr12:123444758..133191400 [GRCh38] Chr12:123929305..133767986 [GRCh37] Chr12:122495258..132278059 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 |
copy number gain |
See cases [RCV000053689] |
Chr12:115131583..133166920 [GRCh38] Chr12:115569388..133743506 [GRCh37] Chr12:114053771..132253579 [NCBI36] Chr12:12q24.21-24.33 |
pathogenic |
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] |
Chr12:119417382..133191400 [GRCh38] Chr12:119855187..133767986 [GRCh37] Chr12:118339570..132278059 [NCBI36] Chr12:12q24.23-24.33 |
pathogenic |
GRCh38/hg38 12q24.31-24.33(chr12:123365769-133191400)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|See cases [RCV000053693] |
Chr12:123365769..133191400 [GRCh38] Chr12:123850316..133767986 [GRCh37] Chr12:122416269..132278059 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002054920]|Cutis laxa with osteodystrophy [RCV001114577] |
Chr12:123727864 [GRCh38] Chr12:124212411 [GRCh37] Chr12:122778364 [NCBI36] Chr12:12q24.31 |
benign|uncertain significance|not provided |
NM_012463.4(ATP6V0A2):c.-14C>T |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000339426]|Cutis laxa with osteodystrophy [RCV001111206]|Familial aplasia of the vermis [RCV000305731]|Meckel-Gruber syndrome [RCV000407551]|not provided [RCV004703229]|not specified [RCV000081542] |
Chr12:123712552 [GRCh38] Chr12:124197099 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000536694]|Cutis laxa with osteodystrophy [RCV000362304]|not provided [RCV000224904]|not specified [RCV000081543] |
Chr12:123737249 [GRCh38] Chr12:124221796 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001079902]|Cutis laxa with osteodystrophy [RCV000283557]|not provided [RCV000224475]|not specified [RCV000081544] |
Chr12:123743867 [GRCh38] Chr12:124228414 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001079380]|ATP6V0A2-related disorder [RCV003915081]|Cutis laxa with osteodystrophy [RCV001113315]|not provided [RCV000864597]|not specified [RCV000081545] |
Chr12:123744269 [GRCh38] Chr12:124228816 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.1514+1G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502514]|Cutis laxa with osteodystrophy [RCV002498429]|not provided [RCV000174367] |
Chr12:123744785 [GRCh38] Chr12:124229332 [GRCh37] Chr12:12q24.31 |
pathogenic|likely pathogenic |
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001516703]|Cutis laxa with osteodystrophy [RCV000374481]|Wrinkly skin syndrome [RCV001554140]|not provided [RCV004706498]|not specified [RCV000081547] |
Chr12:123744882 [GRCh38] Chr12:124229429 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000538030]|Cutis laxa with osteodystrophy [RCV000358680]|not provided [RCV004706499]|not specified [RCV000081549] |
Chr12:123756959 [GRCh38] Chr12:124241506 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001514987]|Cutis laxa with osteodystrophy [RCV000371563]|not provided [RCV004706500]|not specified [RCV000081550] |
Chr12:123758010 [GRCh38] Chr12:123758010..123758011 [GRCh38] Chr12:124242557 [GRCh37] Chr12:124242557..124242558 [GRCh37] Chr12:12q24.31 |
benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001516700]|Cutis laxa with osteodystrophy [RCV000394212]|Wrinkly skin syndrome [RCV001553943]|not provided [RCV004707939]|not specified [RCV000081551] |
Chr12:123724785 [GRCh38] Chr12:124209332 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.432+14C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001516701]|Cutis laxa with osteodystrophy [RCV000298475]|Wrinkly skin syndrome [RCV001553944]|not provided [RCV004706501]|not specified [RCV000081552] |
Chr12:123724805 [GRCh38] Chr12:124209352 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001516702]|Cutis laxa with osteodystrophy [RCV000369580]|Wrinkly skin syndrome [RCV001553945]|not provided [RCV004706502]|not specified [RCV000081553] |
Chr12:123726235 [GRCh38] Chr12:124210782 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.825+2T>C |
single nucleotide variant |
not provided [RCV000180309] |
Chr12:123735626 [GRCh38] Chr12:124220173 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del |
deletion |
not specified [RCV000176091] |
Chr12:123757912..123757913 [GRCh38] Chr12:124242459..124242460 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter) |
single nucleotide variant |
not provided [RCV000178289] |
Chr12:123724663 [GRCh38] Chr12:124209210 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) |
deletion |
Cutis laxa with osteodystrophy [RCV001290336] |
Chr12:123727795 [GRCh38] Chr12:124212342 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002516628]|Cutis laxa with osteodystrophy [RCV001113318]|Inborn genetic diseases [RCV002517675]|not provided [RCV000174366] |
Chr12:123744700 [GRCh38] Chr12:124229247 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3 |
copy number gain |
See cases [RCV000134900] |
Chr12:123509825..123975309 [GRCh38] Chr12:123994372..124459856 [GRCh37] Chr12:122560325..123025809 [NCBI36] Chr12:12q24.31 |
uncertain significance |
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 |
copy number gain |
See cases [RCV000135535] |
Chr12:123509825..133191400 [GRCh38] Chr12:123994372..133767986 [GRCh37] Chr12:122560325..132278059 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 |
copy number gain |
See cases [RCV000137651] |
Chr12:120697672..133202490 [GRCh38] Chr12:121135475..133779076 [GRCh37] Chr12:119619858..132289149 [NCBI36] Chr12:12q24.31-24.33 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001087624]|ATP6V0A2-related disorder [RCV003907567]|Cutis Laxa, Recessive [RCV000364298]|not provided [RCV000724863] |
Chr12:123754473 [GRCh38] Chr12:124239020 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 |
copy number loss |
See cases [RCV000142454] |
Chr12:120718786..127500215 [GRCh38] Chr12:121156589..127984760 [GRCh37] Chr12:119640972..126550713 [NCBI36] Chr12:12q24.31-24.32 |
pathogenic |
GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1 |
copy number loss |
See cases [RCV000143250] |
Chr12:121917758..127802717 [GRCh38] Chr12:122355664..128287262 [GRCh37] Chr12:120840047..126853215 [NCBI36] Chr12:12q24.31-24.32 |
pathogenic |
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 |
copy number gain |
See cases [RCV000143656] |
Chr12:114268403..133201316 [GRCh38] Chr12:114706208..133777902 [GRCh37] Chr12:113190591..132287975 [NCBI36] Chr12:12q24.21-24.33 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001088927]|ATP6V0A2-related disorder [RCV003895048]|Cutis laxa with osteodystrophy [RCV000322153]|Inborn genetic diseases [RCV003338429]|not provided [RCV000723907]|not specified [RCV000194414] |
Chr12:123744756 [GRCh38] Chr12:124229303 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001088570]|ATP6V0A2-related disorder [RCV003917736]|Cutis laxa with osteodystrophy [RCV001109061]|not provided [RCV000871111]|not specified [RCV000195070] |
Chr12:123754482 [GRCh38] Chr12:124239029 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.522-9G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002059154]|ATP6V0A2-related disorder [RCV003920076]|Cutis laxa with osteodystrophy [RCV000399420]|not provided [RCV000277913] |
Chr12:123727774 [GRCh38] Chr12:124212321 [GRCh37] Chr12:12q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001089165]|ATP6V0A2-related disorder [RCV003919901]|Cutis laxa with osteodystrophy [RCV001109058]|not provided [RCV000224010]|not specified [RCV000419132] |
Chr12:123751228 [GRCh38] Chr12:124235775 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001057289]|Cutis laxa with osteodystrophy [RCV000352754]|not provided [RCV000725521]|not specified [RCV001820821] |
Chr12:123748616 [GRCh38] Chr12:124233163 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.482T>G (p.Leu161Trp) |
single nucleotide variant |
not provided [RCV000513755] |
Chr12:123726246 [GRCh38] Chr12:124210793 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.732-23T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001554138]|Wrinkly skin syndrome [RCV001554139]|not provided [RCV001689863]|not specified [RCV000248627] |
Chr12:123735508 [GRCh38] Chr12:124220055 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*1600G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000300917]|not provided [RCV004708242] |
Chr12:123759632 [GRCh38] Chr12:124244179 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002056276]|ATP6V0A2-related disorder [RCV003967885]|Cutis laxa with osteodystrophy [RCV000394202]|not provided [RCV000884990] |
Chr12:123722418 [GRCh38] Chr12:124206965 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*2646A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000394243] |
Chr12:123760678 [GRCh38] Chr12:124245225 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*1205C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000395958] |
Chr12:123759237 [GRCh38] Chr12:124243784 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*3665T>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000282625] |
Chr12:123761697 [GRCh38] Chr12:124246244 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1039-14T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002056278]|Cutis laxa with osteodystrophy [RCV000322890]|not provided [RCV004708240]|not specified [RCV000426196] |
Chr12:123743771 [GRCh38] Chr12:124228318 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*785T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000395960] |
Chr12:123758817 [GRCh38] Chr12:124243364 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*3235A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000266180]|not provided [RCV004706915] |
Chr12:123761267 [GRCh38] Chr12:124245814 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*3159G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000269552] |
Chr12:123761191 [GRCh38] Chr12:124245738 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*998T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000303399] |
Chr12:123759030 [GRCh38] Chr12:124243577 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.*1252A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000304256] |
Chr12:123759284 [GRCh38] Chr12:124243831 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3603G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000371515]|not provided [RCV004706917] |
Chr12:123761635 [GRCh38] Chr12:124246182 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000397985]|Inborn genetic diseases [RCV002520796] |
Chr12:123748639 [GRCh38] Chr12:124233186 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3505A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000285088] |
Chr12:123761537 [GRCh38] Chr12:124246084 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003765807]|Cutis laxa with osteodystrophy [RCV000270186] |
Chr12:123737271 [GRCh38] Chr12:124221818 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.-170C>A |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000325607]|Cutis laxa with osteodystrophy [RCV001111204] |
Chr12:123712396 [GRCh38] Chr12:124196943 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*709C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000347720] |
Chr12:123758741 [GRCh38] Chr12:124243288 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.-117C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000286699] |
Chr12:123712449 [GRCh38] Chr12:124196996 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*577C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000288240] |
Chr12:123758609 [GRCh38] Chr12:124243156 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002520795]|ATP6V0A2-related disorder [RCV003897705]|Cutis laxa with osteodystrophy [RCV000328554]|not provided [RCV001697658] |
Chr12:123737226 [GRCh38] Chr12:124221773 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001850627]|Cutis laxa with osteodystrophy [RCV000271126] |
Chr12:123735593 [GRCh38] Chr12:124220140 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3166C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000329366] |
Chr12:123761198 [GRCh38] Chr12:124245745 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*1693C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000330111]|not provided [RCV004708243] |
Chr12:123759725 [GRCh38] Chr12:124244272 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*191T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000331687]|not provided [RCV001582945] |
Chr12:123758223 [GRCh38] Chr12:124242770 [GRCh37] Chr12:12q24.31 |
benign|likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*1454A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000354384] |
Chr12:123759486 [GRCh38] Chr12:124244033 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3425G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000380607]|not provided [RCV004706916] |
Chr12:123761457 [GRCh38] Chr12:124246004 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001057370]|Cutis laxa with osteodystrophy [RCV000380335]|Inborn genetic diseases [RCV004965396]|not provided [RCV000522764] |
Chr12:123743842 [GRCh38] Chr12:124228389 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000865321]|Cutis laxa with osteodystrophy [RCV000401678]|not provided [RCV001718625] |
Chr12:123751188 [GRCh38] Chr12:124235735 [GRCh37] Chr12:12q24.31 |
benign|likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*1681G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000275077] |
Chr12:123759713 [GRCh38] Chr12:124244260 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3000G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000314254] |
Chr12:123761032 [GRCh38] Chr12:124245579 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*1599C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000259548] |
Chr12:123759631 [GRCh38] Chr12:124244178 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2485C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000338585] |
Chr12:123760517 [GRCh38] Chr12:124245064 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*3553G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000316824]|not provided [RCV004708244] |
Chr12:123761585 [GRCh38] Chr12:124246132 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV003940172]|Cutis laxa with osteodystrophy [RCV000261650] |
Chr12:123757966 [GRCh38] Chr12:124242513 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*2454T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000297711] |
Chr12:123760486 [GRCh38] Chr12:124245033 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002522225]|Cutis laxa with osteodystrophy [RCV000282196]|Cutis laxa with osteodystrophy [RCV002502211]|not provided [RCV002272210] |
Chr12:123744932 [GRCh38] Chr12:124229479 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000872370]|Cutis laxa with osteodystrophy [RCV000365310]|not specified [RCV000434512] |
Chr12:123748722 [GRCh38] Chr12:124233269 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*3227C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000365499]|not provided [RCV004706914] |
Chr12:123761259 [GRCh38] Chr12:124245806 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*2877T>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000367430]|not provided [RCV004706913] |
Chr12:123760909 [GRCh38] Chr12:124245456 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001348420]|Cutis laxa with osteodystrophy [RCV000280712]|Cutis laxa with osteodystrophy [RCV000763801]|Inborn genetic diseases [RCV004965395]|not provided [RCV000767074]|not specified [RCV000439999] |
Chr12:123724668 [GRCh38] Chr12:124209215 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000319194]|not provided [RCV001764276] |
Chr12:123758003 [GRCh38] Chr12:124242550 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002520797]|Cutis laxa with osteodystrophy [RCV000320280]|Cutis laxa with osteodystrophy [RCV002494961]|not provided [RCV001582944] |
Chr12:123756854 [GRCh38] Chr12:124241401 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3269A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000321388] |
Chr12:123761301 [GRCh38] Chr12:124245848 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000872369]|Cutis laxa with osteodystrophy [RCV000368021]|not provided [RCV004708239]|not specified [RCV000424244] |
Chr12:123735576 [GRCh38] Chr12:124220123 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) |
duplication |
ALG9 congenital disorder of glycosylation [RCV000689436]|Cutis laxa [RCV002265727]|Cutis laxa with osteodystrophy [RCV005008254]|not provided [RCV000599054] |
Chr12:123712642..123712643 [GRCh38] Chr12:124197189..124197190 [GRCh37] Chr12:12q24.31 |
pathogenic|likely pathogenic |
NM_012463.4(ATP6V0A2):c.*2353G>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000394260] |
Chr12:123760385 [GRCh38] Chr12:124244932 [GRCh37] Chr12:12q24.31 |
benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*2198C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000283059] |
Chr12:123760230 [GRCh38] Chr12:124244777 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000873262]|Cutis laxa with osteodystrophy [RCV000397995]|not provided [RCV001697741] |
Chr12:123747699 [GRCh38] Chr12:124232246 [GRCh37] Chr12:12q24.31 |
benign|likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*60dup |
duplication |
Cutis Laxa, Recessive [RCV000262548] |
Chr12:123758089..123758090 [GRCh38] Chr12:124242636..124242637 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001859843]|Cutis laxa with osteodystrophy [RCV000307371]|Cutis laxa with osteodystrophy [RCV002487367]|not provided [RCV001653512] |
Chr12:123752299 [GRCh38] Chr12:124236846 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002059192]|not provided [RCV000317767] |
Chr12:123744728 [GRCh38] Chr12:124229275 [GRCh37] Chr12:12q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001859640]|Inborn genetic diseases [RCV004021193]|not provided [RCV000353417] |
Chr12:123743794 [GRCh38] Chr12:124228341 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*1828C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000275733] |
Chr12:123759860 [GRCh38] Chr12:124244407 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000872211]|Cutis laxa with osteodystrophy [RCV000310903]|Cutis laxa with osteodystrophy [RCV000763803]|Inborn genetic diseases [RCV004021535]|not provided [RCV001705460]|not specified [RCV000493630] |
Chr12:123727875 [GRCh38] Chr12:124212422 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*2085C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000380794] |
Chr12:123760117 [GRCh38] Chr12:124244664 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002519224]|not provided [RCV000289008] |
Chr12:123733929 [GRCh38] Chr12:124218476 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2984_*2986del |
deletion |
Cutis Laxa, Recessive [RCV000277620] |
Chr12:123761014..123761016 [GRCh38] Chr12:124245561..124245563 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2833A>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000312715] |
Chr12:123760865 [GRCh38] Chr12:124245412 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000557036]|ATP6V0A2-related disorder [RCV004757203]|Cutis laxa with osteodystrophy [RCV000334860]|not provided [RCV001705461]|not specified [RCV000421499] |
Chr12:123744957 [GRCh38] Chr12:124229504 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.*574C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000382600]|not provided [RCV004708241] |
Chr12:123758606 [GRCh38] Chr12:124243153 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.3(ATP6V0A2):c.-227A>G |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000383636]|not provided [RCV000838619] |
Chr12:123712339 [GRCh38] Chr12:124196886 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001088720]|ATP6V0A2-related disorder [RCV003957452]|not provided [RCV000399908] |
Chr12:123744888 [GRCh38] Chr12:124229435 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002056277]|Cutis laxa with osteodystrophy [RCV000338336]|not provided [RCV000910841] |
Chr12:123724671 [GRCh38] Chr12:124209218 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000267400]|not provided [RCV001770245] |
Chr12:123754517 [GRCh38] Chr12:124239064 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*1128T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000339651]|not provided [RCV004706912] |
Chr12:123759160 [GRCh38] Chr12:124243707 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*1799A>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000388835] |
Chr12:123759831 [GRCh38] Chr12:124244378 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2120T>C (p.Ile707Thr) |
single nucleotide variant |
not provided [RCV003221740] |
Chr12:123752347 [GRCh38] Chr12:124236894 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys) |
single nucleotide variant |
not provided [RCV000523731] |
Chr12:123735578 [GRCh38] Chr12:124220125 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002525989]|Cutis laxa with osteodystrophy [RCV001111207]|Cutis laxa with osteodystrophy [RCV005010401]|Inborn genetic diseases [RCV002527000]|not provided [RCV000488263] |
Chr12:123712591 [GRCh38] Chr12:124197138 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2128_*2129del |
deletion |
Cutis Laxa, Recessive [RCV000291376] |
Chr12:123760159..123760160 [GRCh38] Chr12:124244706..124244707 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.3(ATP6V0A2):c.-243C>A |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000331533] |
Chr12:123712323 [GRCh38] Chr12:124196870 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2161C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000346281] |
Chr12:123760193 [GRCh38] Chr12:124244740 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3042T>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000364215] |
Chr12:123761074 [GRCh38] Chr12:124245621 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.-148C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000382496] |
Chr12:123712418 [GRCh38] Chr12:124196965 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*271A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000386176] |
Chr12:123758303 [GRCh38] Chr12:124242850 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_024809.5(TCTN2):c.*155G>A |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000380838]|Joubert syndrome 24 [RCV000348184]|Meckel syndrome, type 8 [RCV000395659]|not provided [RCV001660608] |
Chr12:123707868 [GRCh38] Chr12:124192415 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.1724+20del |
deletion |
ALG9 congenital disorder of glycosylation [RCV002056279]|Cutis Laxa, Recessive [RCV000295227]|not provided [RCV001653511] |
Chr12:123747737 [GRCh38] Chr12:124232284 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*564T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000351389] |
Chr12:123758596 [GRCh38] Chr12:124243143 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_024809.5(TCTN2):c.*468C>T |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000384445]|Joubert syndrome 24 [RCV000332774]|Meckel syndrome, type 8 [RCV000261262]|not provided [RCV004706911] |
Chr12:123708181 [GRCh38] Chr12:124192728 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*434T>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000296453] |
Chr12:123758466 [GRCh38] Chr12:124243013 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_024809.5(TCTN2):c.*330_*331insACTC |
insertion |
Cutis Laxa, Recessive [RCV000288832]|Familial aplasia of the vermis [RCV000261726]|Meckel-Gruber syndrome [RCV000358743]|not provided [RCV001527870] |
Chr12:123708040..123708041 [GRCh38] Chr12:124192587..124192588 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000698250]|not provided [RCV003151782]|not specified [RCV000518290] |
Chr12:123756905 [GRCh38] Chr12:124241452 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*1680C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000355737] |
Chr12:123759712 [GRCh38] Chr12:124244259 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_024809.5(TCTN2):c.*67C>T |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000275897]|Joubert syndrome 24 [RCV001110368]|Meckel syndrome, type 8 [RCV001110369]|not provided [RCV001561676] |
Chr12:123707780 [GRCh38] Chr12:124192327 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*2039C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000326148] |
Chr12:123760071 [GRCh38] Chr12:124244618 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.3(ATP6V0A2):c.-222C>G |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000291555]|Familial aplasia of the vermis [RCV000340470]|Meckel-Gruber syndrome [RCV000283085]|not provided [RCV001597065] |
Chr12:123712344 [GRCh38] Chr12:124196891 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.*2344_*2346dup |
duplication |
Cutis Laxa, Recessive [RCV000342083] |
Chr12:123760374..123760375 [GRCh38] Chr12:124244921..124244922 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000329652]|Familial aplasia of the vermis [RCV000205050]|Joubert syndrome 24 [RCV001114402]|Meckel syndrome, type 8 [RCV001114401]|not provided [RCV004703234]|not specified [RCV000114228] |
Chr12:123707660 [GRCh38] Chr12:124192207 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_024809.5(TCTN2):c.*87C>T |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000333334]|Joubert syndrome 24 [RCV000290937]|Meckel syndrome, type 8 [RCV000387583]|not provided [RCV001618538] |
Chr12:123707800 [GRCh38] Chr12:124192347 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV000313038] |
Chr12:123748670 [GRCh38] Chr12:124233217 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2186_*2189del |
deletion |
Cutis Laxa, Recessive [RCV000377536] |
Chr12:123760215..123760218 [GRCh38] Chr12:124244762..124244765 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_024809.5(TCTN2):c.*45G>A |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000386465]|Familial aplasia of the vermis [RCV000296694]|Joubert syndrome 24 [RCV001114403]|Meckel syndrome, type 8 [RCV001114404]|Meckel-Gruber syndrome [RCV000349350]|not provided [RCV001562790] |
Chr12:123707758 [GRCh38] Chr12:124192305 [GRCh37] Chr12:12q24.31 |
benign|likely benign|uncertain significance |
NM_024809.5(TCTN2):c.*412T>C |
single nucleotide variant |
Cutis Laxa, Recessive [RCV000346228]|Joubert syndrome 24 [RCV000353110]|Meckel syndrome, type 8 [RCV000300538]|not provided [RCV004705238] |
Chr12:123708125 [GRCh38] Chr12:124192672 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001332966]|not provided [RCV000591771] |
Chr12:123756859 [GRCh38] Chr12:124241406 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu) |
single nucleotide variant |
not provided [RCV000523013] |
Chr12:123751204 [GRCh38] Chr12:124235751 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.295-17C>A |
single nucleotide variant |
not specified [RCV000604433] |
Chr12:123724637 [GRCh38] Chr12:124209184 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1936-7C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001078731]|not provided [RCV000841760] |
Chr12:123751103 [GRCh38] Chr12:124235650 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.118-7_118-3del |
deletion |
ALG9 congenital disorder of glycosylation [RCV001868941]|not provided [RCV000729315] |
Chr12:123718616..123718620 [GRCh38] Chr12:124203163..124203167 [GRCh37] Chr12:12q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.1852A>G (p.Arg618Gly) |
single nucleotide variant |
not specified [RCV000413466] |
Chr12:123748702 [GRCh38] Chr12:124233249 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001850997]|not specified [RCV000413672] |
Chr12:123754490 [GRCh38] Chr12:124239037 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.31-24.32(chr12:122726807-127365912)x1 |
copy number loss |
See cases [RCV000449178] |
Chr12:122726807..127365912 [GRCh37] Chr12:12q24.31-24.32 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003105907]|not specified [RCV000434225] |
Chr12:123735594 [GRCh38] Chr12:124220141 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr) |
single nucleotide variant |
not provided [RCV000431133] |
Chr12:123737201 [GRCh38] Chr12:124221748 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.117+14G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002059001]|Cutis laxa with osteodystrophy [RCV001113216]|not provided [RCV001720235] |
Chr12:123712696 [GRCh38] Chr12:124197243 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.604G>A (p.Val202Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004965452]|not provided [RCV000434722] |
Chr12:123727865 [GRCh38] Chr12:124212412 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1724+20T>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003766422]|not specified [RCV000438251] |
Chr12:123747745 [GRCh38] Chr12:124232292 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001851065]|not provided [RCV000418070] |
Chr12:123744727 [GRCh38] Chr12:124229274 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1606-12G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001517104]|Cutis laxa with osteodystrophy [RCV001114687]|not provided [RCV004707249]|not specified [RCV000421277] |
Chr12:123747595 [GRCh38] Chr12:124232142 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002063336]|ATP6V0A2-related disorder [RCV003902573]|not provided [RCV003884527]|not specified [RCV000421320] |
Chr12:123744755 [GRCh38] Chr12:124229302 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001865370]|Inborn genetic diseases [RCV004022431]|not provided [RCV000425347] |
Chr12:123751144 [GRCh38] Chr12:124235691 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000797679]|not provided [RCV000422153] |
Chr12:123726279 [GRCh38] Chr12:124210826 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002521668]|not provided [RCV000440387] |
Chr12:123751179 [GRCh38] Chr12:124235726 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001861625]|Cutis laxa with osteodystrophy [RCV000763802]|Cutis laxa with osteodystrophy [RCV001113218]|not provided [RCV000729905]|not specified [RCV000423155] |
Chr12:123724781 [GRCh38] Chr12:124209328 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.1189+12G>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002063585]|Cutis laxa with osteodystrophy [RCV001113314]|not specified [RCV000433780] |
Chr12:123743947 [GRCh38] Chr12:124228494 [GRCh37] Chr12:12q24.31 |
benign|likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002525504]|not specified [RCV000420559] |
Chr12:123756829 [GRCh38] Chr12:124241376 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002521753]|not specified [RCV000423417] |
Chr12:123744722 [GRCh38] Chr12:124229269 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002526950]|ATP6V0A2-related disorder [RCV003915336]|not provided [RCV000483300] |
Chr12:123724747 [GRCh38] Chr12:124209294 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.522-13del |
deletion |
ALG9 congenital disorder of glycosylation [RCV002063757]|not provided [RCV001704622] |
Chr12:123727768 [GRCh38] Chr12:124212315 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003766724]|not provided [RCV000487324] |
Chr12:123735563 [GRCh38] Chr12:124220110 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_012463.4(ATP6V0A2):c.548G>A (p.Gly183Glu) |
single nucleotide variant |
not specified [RCV000504303] |
Chr12:123727809 [GRCh38] Chr12:124212356 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1147G>A (p.Val383Met) |
single nucleotide variant |
not specified [RCV000502507] |
Chr12:123743893 [GRCh38] Chr12:124228440 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002056828]|not provided [RCV000498620] |
Chr12:123743815 [GRCh38] Chr12:124228362 [GRCh37] Chr12:12q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001085019]|Cutis laxa with osteodystrophy [RCV001113217]|not provided [RCV000726817] |
Chr12:123722418 [GRCh38] Chr12:124206965 [GRCh37] Chr12:12q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.196+15T>G |
single nucleotide variant |
not specified [RCV000605649] |
Chr12:123718716 [GRCh38] Chr12:124203263 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.803C>G (p.Thr268Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003291090] |
Chr12:123735602 [GRCh38] Chr12:124220149 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.521+14C>G |
single nucleotide variant |
not specified [RCV000601696] |
Chr12:123726299 [GRCh38] Chr12:124210846 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1327-16G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002065290]|Cutis laxa with osteodystrophy [RCV002491267]|not specified [RCV000601741] |
Chr12:123744581 [GRCh38] Chr12:124229128 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002529481]|not specified [RCV000615259] |
Chr12:123744226 [GRCh38] Chr12:124228773 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002064269]|not provided [RCV001698098] |
Chr12:123756861 [GRCh38] Chr12:124241408 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002531635]|not provided [RCV001719039] |
Chr12:123737086 [GRCh38] Chr12:124221633 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2056-14C>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002063225]|not specified [RCV000615789] |
Chr12:123752269 [GRCh38] Chr12:124236816 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.521+17G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003767552]|not specified [RCV000616110] |
Chr12:123726302 [GRCh38] Chr12:124210849 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=) |
single nucleotide variant |
not specified [RCV000607822] |
Chr12:123737073 [GRCh38] Chr12:124221620 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002531503]|not specified [RCV000607960] |
Chr12:123757930 [GRCh38] Chr12:124242477 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003767631]|not provided [RCV000611514] |
Chr12:123756888 [GRCh38] Chr12:124241435 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1039-13G>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002064382]|not provided [RCV001704794] |
Chr12:123743772 [GRCh38] Chr12:124228319 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.979G>C (p.Glu327Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003266578] |
Chr12:123737212 [GRCh38] Chr12:124221759 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.117+17_117+20delinsTCT |
indel |
not specified [RCV000604354] |
Chr12:123712699..123712702 [GRCh38] Chr12:124197246..124197249 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004024861]|not provided [RCV000594358] |
Chr12:123744893 [GRCh38] Chr12:124229440 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.732-3C>T |
single nucleotide variant |
not provided [RCV001712632] |
Chr12:123735528 [GRCh38] Chr12:124220075 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002538811]|not provided [RCV001760599] |
Chr12:123733935 [GRCh38] Chr12:124218482 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.31(chr12:124097565-124462296)x3 |
copy number gain |
not provided [RCV000683425] |
Chr12:124097565..124462296 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609167]|not provided [RCV000710655] |
Chr12:123737247 [GRCh38] Chr12:124221794 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001078886]|ATP6V0A2-related disorder [RCV003965460]|not provided [RCV000710656] |
Chr12:123735572 [GRCh38] Chr12:124220119 [GRCh37] Chr12:12q24.31 |
likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 |
copy number gain |
not provided [RCV000738070] |
Chr12:120367241..133777645 [GRCh37] Chr12:12q24.23-24.33 |
pathogenic |
GRCh37/hg19 12q24.31(chr12:122706844-124294517)x3 |
copy number gain |
not provided [RCV000738079] |
Chr12:122706844..124294517 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2220C>T (p.Ile740=) |
single nucleotide variant |
not provided [RCV000938768] |
Chr12:123754464 [GRCh38] Chr12:124239011 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001866001]|not provided [RCV001566384] |
Chr12:123756815 [GRCh38] Chr12:124241362 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1039-94C>A |
single nucleotide variant |
not provided [RCV001548414] |
Chr12:123743691 [GRCh38] Chr12:124228238 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.432+230C>T |
single nucleotide variant |
not provided [RCV001725625] |
Chr12:123725021 [GRCh38] Chr12:124209568 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.892C>T (p.Arg298Cys) |
single nucleotide variant |
not provided [RCV000761847] |
Chr12:123737125 [GRCh38] Chr12:124221672 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001866019]|not provided [RCV001569974] |
Chr12:123743857 [GRCh38] Chr12:124228404 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001859371]|Cutis laxa with osteodystrophy [RCV002476854]|Inborn genetic diseases [RCV002570691]|not provided [RCV001551431] |
Chr12:123727800 [GRCh38] Chr12:124212347 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3654A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001115015] |
Chr12:123761686 [GRCh38] Chr12:124246233 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.432+251T>C |
single nucleotide variant |
not provided [RCV001566331] |
Chr12:123725042 [GRCh38] Chr12:124209589 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2175+267G>A |
single nucleotide variant |
not provided [RCV001552180] |
Chr12:123752669 [GRCh38] Chr12:124237216 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.294+217T>C |
single nucleotide variant |
not provided [RCV001612361] |
Chr12:123722665 [GRCh38] Chr12:124207212 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.237T>C (p.Leu79=) |
single nucleotide variant |
not provided [RCV000877131] |
Chr12:123722391 [GRCh38] Chr12:124206938 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2358C>T (p.Gly786=) |
single nucleotide variant |
not provided [RCV000921318] |
Chr12:123756879 [GRCh38] Chr12:124241426 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502564] |
Chr12:123743811 [GRCh38] Chr12:124228358 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup |
duplication |
ALG9 congenital disorder of glycosylation [RCV000983442] |
Chr12:123744342..123744343 [GRCh38] Chr12:124228889..124228890 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000983496] |
Chr12:123722418 [GRCh38] Chr12:124206965 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001070793] |
Chr12:123733929 [GRCh38] Chr12:124218476 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002068720]|not provided [RCV000995003] |
Chr12:123756841 [GRCh38] Chr12:124241388 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) |
duplication |
ALG9 congenital disorder of glycosylation [RCV001042830] |
Chr12:123743804..123743805 [GRCh38] Chr12:124228351..124228352 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001416611] |
Chr12:123747666 [GRCh38] Chr12:124232213 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1164C>T (p.Val388=) |
single nucleotide variant |
not provided [RCV000923749] |
Chr12:123743910 [GRCh38] Chr12:124228457 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2382C>T (p.Ile794=) |
single nucleotide variant |
not provided [RCV000925090] |
Chr12:123756903 [GRCh38] Chr12:124241450 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502572] |
Chr12:123758020 [GRCh38] Chr12:124242567 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.295-276del |
deletion |
not provided [RCV000843319] |
Chr12:123724370 [GRCh38] Chr12:124208917 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.3(ATP6V0A2):c.-378G>C |
single nucleotide variant |
not provided [RCV000835639] |
Chr12:123712188 [GRCh38] Chr12:124196735 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.3(ATP6V0A2):c.-399A>T |
single nucleotide variant |
not provided [RCV000835720] |
Chr12:123712167 [GRCh38] Chr12:124196714 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2465+58T>C |
single nucleotide variant |
not provided [RCV000835721] |
Chr12:123757044 [GRCh38] Chr12:124241591 [GRCh37] Chr12:12q24.31 |
benign |
NC_000012.12:g.123751103C>T |
single nucleotide variant |
not provided [RCV000841760] |
Chr12:124235650 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002068554]|Cutis laxa with osteodystrophy [RCV001114576]|not provided [RCV000836118] |
Chr12:123726211 [GRCh38] Chr12:124210758 [GRCh37] Chr12:12q24.31 |
benign|likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.2055+252C>T |
single nucleotide variant |
not provided [RCV000843321] |
Chr12:123751481 [GRCh38] Chr12:124236028 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2056-333C>T |
single nucleotide variant |
not provided [RCV000843322] |
Chr12:123751950 [GRCh38] Chr12:124236497 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.3(ATP6V0A2):c.-511T>A |
single nucleotide variant |
not provided [RCV000828978] |
Chr12:123712055 [GRCh38] Chr12:124196602 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.433-170A>G |
single nucleotide variant |
not provided [RCV000838536] |
Chr12:123726027 [GRCh38] Chr12:124210574 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1935+75T>C |
single nucleotide variant |
not provided [RCV000837979] |
Chr12:123748860 [GRCh38] Chr12:124233407 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1936-147C>T |
single nucleotide variant |
not provided [RCV000838620] |
Chr12:123750963 [GRCh38] Chr12:124235510 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002068616]|ATP6V0A2-related disorder [RCV004757292]|not provided [RCV000842332] |
Chr12:123744205 [GRCh38] Chr12:124228752 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2294-4G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001519146]|Cutis laxa with osteodystrophy [RCV001111399]|not provided [RCV000836123] |
Chr12:123756811 [GRCh38] Chr12:124241358 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.3(ATP6V0A2):c.-407A>T |
single nucleotide variant |
not provided [RCV000828752] |
Chr12:123712159 [GRCh38] Chr12:124196706 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000818950]|Inborn genetic diseases [RCV002535492] |
Chr12:123735544 [GRCh38] Chr12:124220091 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002555959]|Cutis laxa with osteodystrophy [RCV001109059]|Cutis laxa with osteodystrophy [RCV002482165]|not provided [RCV001092698] |
Chr12:123752343 [GRCh38] Chr12:124236890 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2357C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001114914]|not provided [RCV004707552] |
Chr12:123760389 [GRCh38] Chr12:123760389..123760390 [GRCh38] Chr12:124244936 [GRCh37] Chr12:124244936..124244937 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.3(ATP6V0A2):c.-400G>C |
single nucleotide variant |
not provided [RCV000828753] |
Chr12:123712166 [GRCh38] Chr12:124196713 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=) |
single nucleotide variant |
not provided [RCV000827053] |
Chr12:123752375 [GRCh38] Chr12:124236922 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.*643C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001114800] |
Chr12:123758675 [GRCh38] Chr12:124243222 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*706T>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001114801] |
Chr12:123758738 [GRCh38] Chr12:124243285 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*3707A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001115017] |
Chr12:123761739 [GRCh38] Chr12:124246286 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.732-287C>T |
single nucleotide variant |
not provided [RCV000843320] |
Chr12:123735244 [GRCh38] Chr12:124219791 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.118-73G>A |
single nucleotide variant |
not provided [RCV000837107] |
Chr12:123718550 [GRCh38] Chr12:124203097 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001088794]|ATP6V0A2-related disorder [RCV003948030]|not provided [RCV000840694] |
Chr12:123743874 [GRCh38] Chr12:124228421 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.649-36G>A |
single nucleotide variant |
not provided [RCV000834201] |
Chr12:123733890 [GRCh38] Chr12:124218437 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.432+12C>T |
single nucleotide variant |
not provided [RCV000841477] |
Chr12:123724803 [GRCh38] Chr12:124209350 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.521+14C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002067555]|not provided [RCV000842253] |
Chr12:123726299 [GRCh38] Chr12:124210846 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001856507]|Cutis laxa with osteodystrophy [RCV001114575]|Inborn genetic diseases [RCV002558139]|not provided [RCV001567082] |
Chr12:123726204 [GRCh38] Chr12:124210751 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*575G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001114799] |
Chr12:123758607 [GRCh38] Chr12:124243154 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1 |
copy number loss |
not provided [RCV000848395] |
Chr12:122169403..129084163 [GRCh37] Chr12:12q24.31-24.32 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001493530] |
Chr12:123748776 [GRCh38] Chr12:124233323 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.*1731C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001113493] |
Chr12:123759763 [GRCh38] Chr12:124244310 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*1837T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001113495] |
Chr12:123759869 [GRCh38] Chr12:124244416 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1605+1G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001242368] |
Chr12:123744973 [GRCh38] Chr12:124229520 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001111401] |
Chr12:123756933 [GRCh38] Chr12:124241480 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2876A>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001111596] |
Chr12:123760908 [GRCh38] Chr12:124245455 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2929C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001111597] |
Chr12:123760961 [GRCh38] Chr12:124245508 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001065442] |
Chr12:123758015 [GRCh38] Chr12:124242562 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2176-5C>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109060] |
Chr12:123754415 [GRCh38] Chr12:124238962 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2771A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109269] |
Chr12:123760803 [GRCh38] Chr12:124245350 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2782C>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109270] |
Chr12:123760814 [GRCh38] Chr12:124245361 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003105176] |
Chr12:123724692 [GRCh38] Chr12:124209239 [GRCh37] Chr12:12q24.31 |
likely benign |
NC_000012.12:g.123712077_123712083AC[3]ATACACACA[1] |
microsatellite |
not provided [RCV001576117] |
Chr12:123712076..123712077 [GRCh38] Chr12:124196623..124196624 [GRCh37] Chr12:12q24.31 |
likely benign |
NC_000012.12:g.123712077_123712084AC[5]ATACACACAC[1] |
microsatellite |
not provided [RCV001546401] |
Chr12:123712076..123712077 [GRCh38] Chr12:124196623..124196624 [GRCh37] Chr12:12q24.31 |
likely benign |
NC_000012.12:g.123712061AC[6] |
microsatellite |
not provided [RCV001552187] |
Chr12:123712059..123712060 [GRCh38] Chr12:124196606..124196607 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2466-10T>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003104263] |
Chr12:123757917 [GRCh38] Chr12:124242464 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.230T>G (p.Ile77Ser) |
single nucleotide variant |
not provided [RCV003318148] |
Chr12:123722384 [GRCh38] Chr12:124206931 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.732-168T>C |
single nucleotide variant |
not provided [RCV001667875] |
Chr12:123735363 [GRCh38] Chr12:124219910 [GRCh37] Chr12:12q24.31 |
benign |
NC_000012.12:g.123712057AC[9] |
microsatellite |
not provided [RCV001695421] |
Chr12:123712055..123712056 [GRCh38] Chr12:124196602..124196603 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.295-112del |
deletion |
not provided [RCV001555322] |
Chr12:123724529 [GRCh38] Chr12:124209076 [GRCh37] Chr12:12q24.31 |
likely benign |
NC_000012.12:g.123628460_123712468dup |
duplication |
not provided [RCV001542282] |
Chr12:123628460..123712468 [GRCh38] Chr12:12q24.31 |
uncertain significance |
NC_000012.12:g.123712055AC[6] |
microsatellite |
not provided [RCV001555757] |
Chr12:123712053..123712054 [GRCh38] Chr12:124196600..124196601 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1039-110A>C |
single nucleotide variant |
not provided [RCV001569224] |
Chr12:123743675 [GRCh38] Chr12:124228222 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2055+166C>G |
single nucleotide variant |
not provided [RCV001561484] |
Chr12:123751395 [GRCh38] Chr12:124235942 [GRCh37] Chr12:12q24.31 |
likely benign |
NC_000012.12:g.123712061AC[5] |
microsatellite |
not provided [RCV001557275] |
Chr12:123712059..123712060 [GRCh38] Chr12:124196606..124196607 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.433-117T>C |
single nucleotide variant |
not provided [RCV001714507] |
Chr12:123726080 [GRCh38] Chr12:124210627 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1039-123del |
deletion |
not provided [RCV001639836] |
Chr12:123743654 [GRCh38] Chr12:124228201 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.522-306G>T |
single nucleotide variant |
not provided [RCV001581635] |
Chr12:123727477 [GRCh38] Chr12:124212024 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.522-159T>C |
single nucleotide variant |
not provided [RCV001714655] |
Chr12:123727624 [GRCh38] Chr12:124212171 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.295-265G>A |
single nucleotide variant |
not provided [RCV001563299] |
Chr12:123724389 [GRCh38] Chr12:124208936 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.295-112dup |
duplication |
not provided [RCV001654648] |
Chr12:123724528..123724529 [GRCh38] Chr12:124209075..124209076 [GRCh37] Chr12:12q24.31 |
benign |
NC_000012.12:g.123712057T>A |
single nucleotide variant |
not provided [RCV001656848] |
Chr12:123712057 [GRCh38] Chr12:124196604 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002072115]|not provided [RCV001559066] |
Chr12:123752393 [GRCh38] Chr12:124236940 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+51A>C |
single nucleotide variant |
not provided [RCV001650167] |
Chr12:123712733 [GRCh38] Chr12:124197280 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.197-283A>G |
single nucleotide variant |
not provided [RCV001566367] |
Chr12:123722068 [GRCh38] Chr12:124206615 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.826-217T>C |
single nucleotide variant |
not provided [RCV001559536] |
Chr12:123736842 [GRCh38] Chr12:124221389 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2294-6T>C |
single nucleotide variant |
not provided [RCV000895612] |
Chr12:123756809 [GRCh38] Chr12:124241356 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502578] |
Chr12:123722388 [GRCh38] Chr12:124206935 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001482854]|not provided [RCV000941816] |
Chr12:123751217 [GRCh38] Chr12:124235764 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002537524] |
Chr12:123748698 [GRCh38] Chr12:124233245 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.*3357G>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001112077] |
Chr12:123761389 [GRCh38] Chr12:124245936 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*3368T>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001112078] |
Chr12:123761400 [GRCh38] Chr12:124245947 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2329G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001114913] |
Chr12:123760361 [GRCh38] Chr12:124244908 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*3684C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001115016] |
Chr12:123761716 [GRCh38] Chr12:124246263 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002065808] |
Chr12:123758017 [GRCh38] Chr12:124242564 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV000957146] |
Chr12:123712598 [GRCh38] Chr12:124197145 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002065825] |
Chr12:123754518 [GRCh38] Chr12:124239065 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.732-102G>A |
single nucleotide variant |
not provided [RCV001556597] |
Chr12:123735429 [GRCh38] Chr12:124219976 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.521+40C>T |
single nucleotide variant |
not provided [RCV001562581] |
Chr12:123726325 [GRCh38] Chr12:124210872 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.522-284G>C |
single nucleotide variant |
not provided [RCV001660875] |
Chr12:123727499 [GRCh38] Chr12:124212046 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.649-114T>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001553946]|Wrinkly skin syndrome [RCV001553947]|not provided [RCV001615308] |
Chr12:123733812 [GRCh38] Chr12:124218359 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.732-247C>T |
single nucleotide variant |
not provided [RCV001574875] |
Chr12:123735284 [GRCh38] Chr12:124219831 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001882687]|not provided [RCV001575645] |
Chr12:123743872 [GRCh38] Chr12:124228419 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NC_000012.12:g.123712057AC[11] |
microsatellite |
not provided [RCV001552020] |
Chr12:123712055..123712056 [GRCh38] Chr12:124196602..124196603 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1039-12T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002072111]|not provided [RCV001558717] |
Chr12:123743773 [GRCh38] Chr12:124228320 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.433-60C>T |
single nucleotide variant |
not provided [RCV001558839] |
Chr12:123726137 [GRCh38] Chr12:124210684 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.732-23T>G |
single nucleotide variant |
not provided [RCV001594091] |
Chr12:123735508 [GRCh38] Chr12:124220055 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2186G>A (p.Gly729Glu) |
single nucleotide variant |
not provided [RCV001565925] |
Chr12:123754430 [GRCh38] Chr12:124238977 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NC_000012.12:g.123712055AC[8] |
microsatellite |
not provided [RCV001560728] |
Chr12:123712053..123712054 [GRCh38] Chr12:124196600..124196601 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1039-32T>A |
single nucleotide variant |
not provided [RCV001561267] |
Chr12:123743753 [GRCh38] Chr12:124228300 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.197-263T>C |
single nucleotide variant |
not provided [RCV001556353] |
Chr12:123722088 [GRCh38] Chr12:124206635 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1495A>G (p.Lys499Glu) |
single nucleotide variant |
not provided [RCV000995002] |
Chr12:123744765 [GRCh38] Chr12:124229312 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.294+103T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001553941]|Wrinkly skin syndrome [RCV001553942]|not provided [RCV001541246] |
Chr12:123722551 [GRCh38] Chr12:124207098 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.433-195C>T |
single nucleotide variant |
not provided [RCV001651603] |
Chr12:123726002 [GRCh38] Chr12:124210549 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2466-73dup |
duplication |
not provided [RCV001656026] |
Chr12:123757843..123757844 [GRCh38] Chr12:124242390..124242391 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.194del (p.Leu65fs) |
deletion |
not provided [RCV001594035] |
Chr12:123718698 [GRCh38] Chr12:124203245 [GRCh37] Chr12:12q24.31 |
pathogenic |
NC_000012.12:g.123712271G>C |
single nucleotide variant |
not provided [RCV001581799] |
Chr12:123712271 [GRCh38] Chr12:124196818 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002592496]|not provided [RCV001594062]|not specified [RCV004526137] |
Chr12:123754488 [GRCh38] Chr12:124239035 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001882750]|Inborn genetic diseases [RCV002538535]|not provided [RCV001663299] |
Chr12:123737110 [GRCh38] Chr12:124221657 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.196+235G>A |
single nucleotide variant |
not provided [RCV001613553] |
Chr12:123718936 [GRCh38] Chr12:124203483 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001856480]|Cutis laxa with osteodystrophy [RCV001111306]|not provided [RCV001664691] |
Chr12:123737153 [GRCh38] Chr12:124221700 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609178]|Cutis laxa with osteodystrophy [RCV001111402] |
Chr12:123756960 [GRCh38] Chr12:124241507 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*1620T>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001111507] |
Chr12:123759652 [GRCh38] Chr12:124244199 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*1645G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001111508] |
Chr12:123759677 [GRCh38] Chr12:124244224 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001108951]|not provided [RCV001580565] |
Chr12:123735575 [GRCh38] Chr12:124220122 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.826-5C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001108955] |
Chr12:123737054 [GRCh38] Chr12:124221601 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*1064G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109167] |
Chr12:123759096 [GRCh38] Chr12:124243643 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*2875A>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109271]|not provided [RCV003405319] |
Chr12:123760907 [GRCh38] Chr12:124245454 [GRCh37] Chr12:12q24.31 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012463.4(ATP6V0A2):c.*3167G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001111598] |
Chr12:123761199 [GRCh38] Chr12:124245746 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001862889]|Cutis laxa with osteodystrophy [RCV001113317]|Inborn genetic diseases [RCV003259099]|not provided [RCV001760081] |
Chr12:123744700 [GRCh38] Chr12:124229247 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502588]|Cutis laxa with osteodystrophy [RCV001113316] |
Chr12:123744334 [GRCh38] Chr12:124228881 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.65C>T (p.Ala22Val) |
single nucleotide variant |
not provided [RCV001091865] |
Chr12:123712630 [GRCh38] Chr12:124197177 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001324109]|Cutis laxa with osteodystrophy [RCV001108953] |
Chr12:123735590 [GRCh38] Chr12:124220137 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002556129]|Cutis laxa with osteodystrophy [RCV001108954]|Inborn genetic diseases [RCV003339512]|not provided [RCV001537393] |
Chr12:123735592 [GRCh38] Chr12:124220139 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2618A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109266] |
Chr12:123760650 [GRCh38] Chr12:124245197 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2314G>C (p.Ala772Pro) |
single nucleotide variant |
not provided [RCV001092699] |
Chr12:123756835 [GRCh38] Chr12:124241382 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.-114G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001111205] |
Chr12:123712452 [GRCh38] Chr12:124196999 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001111208] |
Chr12:123712654 [GRCh38] Chr12:124197201 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2293+168_2293+171del |
deletion |
not provided [RCV001647784] |
Chr12:123754702..123754705 [GRCh38] Chr12:124239249..124239252 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.294+214C>T |
single nucleotide variant |
not provided [RCV001649974] |
Chr12:123722662 [GRCh38] Chr12:124207209 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.2176-10TC[2] |
microsatellite |
Cutis laxa with osteodystrophy [RCV001004863] |
Chr12:123754410..123754413 [GRCh38] Chr12:124238957..124238960 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002573276]|not provided [RCV001587596] |
Chr12:123737101 [GRCh38] Chr12:124221648 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1606-301G>A |
single nucleotide variant |
not provided [RCV001684500] |
Chr12:123747306 [GRCh38] Chr12:124231853 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.117+81G>T |
single nucleotide variant |
not provided [RCV001587900] |
Chr12:123712763 [GRCh38] Chr12:124197310 [GRCh37] Chr12:12q24.31 |
likely benign |
NC_000012.12:g.123712061AC[7] |
microsatellite |
not provided [RCV001584931] |
Chr12:123712059..123712060 [GRCh38] Chr12:124196606..124196607 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1039-303C>T |
single nucleotide variant |
not provided [RCV001583236] |
Chr12:123743482 [GRCh38] Chr12:124228029 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.*3262G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001112076] |
Chr12:123761294 [GRCh38] Chr12:124245841 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002071944]|not provided [RCV001539035] |
Chr12:123751145 [GRCh38] Chr12:124235692 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1190-115T>C |
single nucleotide variant |
not provided [RCV001587017] |
Chr12:123744086 [GRCh38] Chr12:124228633 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.*1803C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001113494] |
Chr12:123759835 [GRCh38] Chr12:124244382 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NC_000012.12:g.123712057AC[7] |
microsatellite |
not provided [RCV001574826] |
Chr12:123712055..123712056 [GRCh38] Chr12:124196602..124196603 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1515-12T>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502589]|Cutis laxa with osteodystrophy [RCV001113319] |
Chr12:123744870 [GRCh38] Chr12:124229417 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001113404]|Inborn genetic diseases [RCV002556212] |
Chr12:123758008 [GRCh38] Chr12:124242555 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV002497684]|not provided [RCV001200354] |
Chr12:123747667 [GRCh38] Chr12:124232214 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*742G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001114802] |
Chr12:123758774 [GRCh38] Chr12:124243321 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*2090C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001114912] |
Chr12:123760122 [GRCh38] Chr12:124244669 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001216411]|not provided [RCV001760196] |
Chr12:123743864 [GRCh38] Chr12:124228411 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.*63C>T |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001113405] |
Chr12:123758095 [GRCh38] Chr12:124242642 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*1950G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001113496] |
Chr12:123759982 [GRCh38] Chr12:124244529 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1165G>A (p.Gly389Arg) |
single nucleotide variant |
not provided [RCV001171666] |
Chr12:123743911 [GRCh38] Chr12:124228458 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002069848]|Cutis laxa with osteodystrophy [RCV001114686]|not provided [RCV001561688] |
Chr12:123744891 [GRCh38] Chr12:124229438 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001108952] |
Chr12:123735585 [GRCh38] Chr12:124220132 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.*1122A>G |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109168] |
Chr12:123759154 [GRCh38] Chr12:124243701 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*2710G>A |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109267] |
Chr12:123760742 [GRCh38] Chr12:124245289 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.*2759T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001109268] |
Chr12:123760791 [GRCh38] Chr12:124245338 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs) |
indel |
ALG9 congenital disorder of glycosylation [RCV001248468] |
Chr12:123748681..123748682 [GRCh38] Chr12:124233228..124233229 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) |
deletion |
Cutis laxa with osteodystrophy [RCV001290340] |
Chr12:123737235 [GRCh38] Chr12:124221782 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001889418] |
Chr12:123748693 [GRCh38] Chr12:124233240 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.31(chr12:123807132-124299781)x3 |
copy number gain |
not provided [RCV001260170] |
Chr12:123807132..124299781 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) |
single nucleotide variant |
Wrinkly skin syndrome [RCV001262499] |
Chr12:123754467 [GRCh38] Chr12:124239014 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001318315] |
Chr12:123744702 [GRCh38] Chr12:124229249 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NC_000012.12:g.123712067A>G |
single nucleotide variant |
not provided [RCV001537142] |
Chr12:123712067 [GRCh38] Chr12:124196614 [GRCh37] Chr12:12q24.31 |
benign |
GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341) |
copy number loss |
Severe short stature [RCV001352637] |
Chr12:123878845..126829341 [GRCh37] Chr12:12q24.31-24.32 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001865860]|ATP6V0A2-related disorder [RCV004757411]|Cutis laxa with osteodystrophy [RCV001337117]|not provided [RCV004720861] |
Chr12:123743858 [GRCh38] Chr12:124228405 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001322817]|not provided [RCV003883608] |
Chr12:123756897 [GRCh38] Chr12:124241444 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001313607] |
Chr12:123737271 [GRCh38] Chr12:124221818 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001299829] |
Chr12:123737230 [GRCh38] Chr12:124221777 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2466-3dup |
duplication |
ALG9 congenital disorder of glycosylation [RCV001521749]|not provided [RCV001587460] |
Chr12:123757911..123757912 [GRCh38] Chr12:124242458..124242459 [GRCh37] Chr12:12q24.31 |
benign|likely benign |
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001506653] |
Chr12:123754494 [GRCh38] Chr12:124239041 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001387990] |
Chr12:123754447 [GRCh38] Chr12:124238994 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001410274] |
Chr12:123712583 [GRCh38] Chr12:124197130 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2055+114A>G |
single nucleotide variant |
not provided [RCV001538255] |
Chr12:123751343 [GRCh38] Chr12:124235890 [GRCh37] Chr12:12q24.31 |
benign |
NC_000012.12:g.123712309del |
deletion |
not provided [RCV001725589] |
Chr12:123712302 [GRCh38] Chr12:124196849 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.825+183A>C |
single nucleotide variant |
not provided [RCV001717246] |
Chr12:123735807 [GRCh38] Chr12:124220354 [GRCh37] Chr12:12q24.31 |
benign |
NC_000012.12:g.123712077_123712084AC[7]ATACACACAC[1] |
microsatellite |
not provided [RCV001588360] |
Chr12:123712076..123712077 [GRCh38] Chr12:124196623..124196624 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.731+242A>G |
single nucleotide variant |
not provided [RCV001684112] |
Chr12:123734250 [GRCh38] Chr12:124218797 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.522-49A>G |
single nucleotide variant |
not provided [RCV001717036] |
Chr12:123727734 [GRCh38] Chr12:124212281 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.196+173dup |
duplication |
not provided [RCV001615535] |
Chr12:123718867..123718868 [GRCh38] Chr12:124203414..124203415 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.295-190G>A |
single nucleotide variant |
not provided [RCV001611617] |
Chr12:123724464 [GRCh38] Chr12:124209011 [GRCh37] Chr12:12q24.31 |
benign |
NC_000012.12:g.123712059T>A |
single nucleotide variant |
not provided [RCV001694606] |
Chr12:123712059 [GRCh38] Chr12:124196606 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1190-123C>T |
single nucleotide variant |
not provided [RCV001527866] |
Chr12:123744078 [GRCh38] Chr12:124228625 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1039-127A>C |
single nucleotide variant |
not provided [RCV001527909] |
Chr12:123743658 [GRCh38] Chr12:124228205 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV001420582] |
Chr12:123751206 [GRCh38] Chr12:124235753 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NC_000012.11:g.(?_123738222)_(124242579_?)dup |
duplication |
Combined oxidative phosphorylation defect type 7 [RCV002239168] |
Chr12:123738222..124242579 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2558A>G (p.Asp853Gly) |
single nucleotide variant |
not provided [RCV001756338] |
Chr12:123758019 [GRCh38] Chr12:124242566 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.576G>T (p.Leu192Phe) |
single nucleotide variant |
not provided [RCV001754878] |
Chr12:123727837 [GRCh38] Chr12:124212384 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1355A>C (p.Tyr452Ser) |
single nucleotide variant |
not provided [RCV001760939] |
Chr12:123744625 [GRCh38] Chr12:124229172 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV002272834] |
Chr12:123756962 [GRCh38] Chr12:124241509 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2374C>T (p.Pro792Ser) |
single nucleotide variant |
not provided [RCV001758603] |
Chr12:123756895 [GRCh38] Chr12:124241442 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1515-3_1515-2del |
deletion |
not provided [RCV001772847] |
Chr12:123744878..123744879 [GRCh38] Chr12:124229425..124229426 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002544047]|not provided [RCV001763224] |
Chr12:123726199 [GRCh38] Chr12:124210746 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1420A>G (p.Lys474Glu) |
single nucleotide variant |
not provided [RCV001772974] |
Chr12:123744690 [GRCh38] Chr12:124229237 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002544083]|not provided [RCV001767618] |
Chr12:123744627 [GRCh38] Chr12:124229174 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His) |
single nucleotide variant |
not provided [RCV001765345]|not specified [RCV001825022] |
Chr12:123735605 [GRCh38] Chr12:124220152 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2505C>T (p.Thr835=) |
single nucleotide variant |
not provided [RCV001757230] |
Chr12:123757966 [GRCh38] Chr12:124242513 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs) |
duplication |
Cutis laxa with osteodystrophy [RCV003485991] |
Chr12:123754472..123754473 [GRCh38] Chr12:124239019..124239020 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002540311]|Inborn genetic diseases [RCV002540310]|not provided [RCV001760692] |
Chr12:123748672 [GRCh38] Chr12:124233219 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002544318]|not provided [RCV001794583] |
Chr12:123735617 [GRCh38] Chr12:124220164 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 |
copy number gain |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] |
Chr12:117461902..133841395 [GRCh37] Chr12:12q24.22-24.33 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.987G>A (p.Trp329Ter) |
single nucleotide variant |
not provided [RCV001780626] |
Chr12:123737220 [GRCh38] Chr12:124221767 [GRCh37] Chr12:12q24.31 |
pathogenic|likely pathogenic |
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002034632]|Cutis laxa with osteodystrophy [RCV003147679]|Inborn genetic diseases [RCV004040837]|not provided [RCV001787482] |
Chr12:123737227 [GRCh38] Chr12:124221774 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2293+1G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609191]|not provided [RCV001780636] |
Chr12:123754538 [GRCh38] Chr12:124239085 [GRCh37] Chr12:12q24.31 |
pathogenic|likely pathogenic |
NM_012463.4(ATP6V0A2):c.1214del (p.Pro405fs) |
deletion |
not provided [RCV001780665] |
Chr12:123744223 [GRCh38] Chr12:124228770 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001868453]|Cutis laxa with osteodystrophy [RCV002477953]|Inborn genetic diseases [RCV002544073]|not provided [RCV001756836] |
Chr12:123737116 [GRCh38] Chr12:124221663 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001882830]|Cutis laxa with osteodystrophy [RCV002496074]|Inborn genetic diseases [RCV004968244]|not provided [RCV001757963] |
Chr12:123724781 [GRCh38] Chr12:124209328 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1577G>A (p.Arg526Gln) |
single nucleotide variant |
not specified [RCV001819190] |
Chr12:123744944 [GRCh38] Chr12:124229491 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2055+4A>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001874523]|Inborn genetic diseases [RCV004040451] |
Chr12:123751233 [GRCh38] Chr12:124235780 [GRCh37] Chr12:12q24.31 |
likely pathogenic|uncertain significance |
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001970929] |
Chr12:123744258 [GRCh38] Chr12:124228805 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001869869]|not provided [RCV003883709]|not specified [RCV001844656] |
Chr12:123743803 [GRCh38] Chr12:124228350 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.31(chr12:123807132-124300075)x3 |
copy number gain |
not provided [RCV001834350] |
Chr12:123807132..124300075 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001909964]|Inborn genetic diseases [RCV004042787] |
Chr12:123722445 [GRCh38] Chr12:124206992 [GRCh37] Chr12:12q24.31 |
uncertain significance |
GRCh37/hg19 12q24.31(chr12:124097565-124278641) |
copy number loss |
not specified [RCV002053032] |
Chr12:124097565..124278641 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002034704]|not provided [RCV001837632] |
Chr12:123737248 [GRCh38] Chr12:124221795 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile) |
inversion |
ALG9 congenital disorder of glycosylation [RCV001965840] |
Chr12:123724785..123724786 [GRCh38] Chr12:124209332..124209333 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001964458] |
Chr12:123737089 [GRCh38] Chr12:124221636 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002006104]|Inborn genetic diseases [RCV002592560] |
Chr12:123751207 [GRCh38] Chr12:124235754 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.118-1G>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001985792] |
Chr12:123718622 [GRCh38] Chr12:124203169 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001912534] |
Chr12:123743840 [GRCh38] Chr12:124228387 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001894718]|Cutis laxa with osteodystrophy [RCV002482562]|Inborn genetic diseases [RCV002551039]|not provided [RCV004591607] |
Chr12:123712593 [GRCh38] Chr12:124197140 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn) |
inversion |
ALG9 congenital disorder of glycosylation [RCV001983165] |
Chr12:123744882..123744883 [GRCh38] Chr12:124229429..124229430 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003163994]|not specified [RCV001844657] |
Chr12:123724769 [GRCh38] Chr12:124209316 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002021139] |
Chr12:123712582 [GRCh38] Chr12:124197129 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002040571] |
Chr12:123757963 [GRCh38] Chr12:124242510 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001965133] |
Chr12:123737120 [GRCh38] Chr12:124221667 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002038902] |
Chr12:123724768 [GRCh38] Chr12:124209315 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001905779] |
Chr12:123743825 [GRCh38] Chr12:124228372 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1605+13C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002035392] |
Chr12:123744985 [GRCh38] Chr12:124229532 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001904274] |
Chr12:123756856 [GRCh38] Chr12:124241403 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001867324] |
Chr12:123712599 [GRCh38] Chr12:124197146 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001975534] |
Chr12:123744621 [GRCh38] Chr12:124229168 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001864794] |
Chr12:123751218 [GRCh38] Chr12:124235765 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001977711]|Inborn genetic diseases [RCV004681372] |
Chr12:123752392 [GRCh38] Chr12:124236939 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001954397]|Cutis laxa with osteodystrophy [RCV002479600]|not provided [RCV003149012] |
Chr12:123756848 [GRCh38] Chr12:124241395 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001981867] |
Chr12:123722417 [GRCh38] Chr12:124206964 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001905926] |
Chr12:123747724 [GRCh38] Chr12:124232271 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1249C>T (p.His417Tyr) |
single nucleotide variant |
not provided [RCV002034820] |
Chr12:123744260 [GRCh38] Chr12:124228807 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NC_000012.11:g.(?_124191253)_(124207015_?)dup |
duplication |
ALG9 congenital disorder of glycosylation [RCV001883377] |
Chr12:124191253..124207015 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001938717] |
Chr12:123751202 [GRCh38] Chr12:124235749 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002036437]|Inborn genetic diseases [RCV002549029] |
Chr12:123743866 [GRCh38] Chr12:124228413 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001924394] |
Chr12:123737255 [GRCh38] Chr12:124221802 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001974013]|Inborn genetic diseases [RCV004970689]|not provided [RCV003225214] |
Chr12:123743875 [GRCh38] Chr12:124228422 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001974852] |
Chr12:123743845 [GRCh38] Chr12:124228392 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002016671] |
Chr12:123744669 [GRCh38] Chr12:124229216 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001935400] |
Chr12:123756875 [GRCh38] Chr12:124241422 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV001878873] |
Chr12:123744738 [GRCh38] Chr12:124229285 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1039-13G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002075698] |
Chr12:123743772 [GRCh38] Chr12:124228319 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+19A>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002186873] |
Chr12:123712701 [GRCh38] Chr12:124197248 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+18_117+19del |
microsatellite |
ALG9 congenital disorder of glycosylation [RCV002186872] |
Chr12:123712698..123712699 [GRCh38] Chr12:124197245..124197246 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.197-4A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002109560] |
Chr12:123722347 [GRCh38] Chr12:124206894 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1935+8A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002117132] |
Chr12:123748793 [GRCh38] Chr12:124233340 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002174911] |
Chr12:123747693 [GRCh38] Chr12:124232240 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002213004] |
Chr12:123748713 [GRCh38] Chr12:124233260 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002173595] |
Chr12:123743904 [GRCh38] Chr12:124228451 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002177092] |
Chr12:123737145 [GRCh38] Chr12:124221692 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002176998] |
Chr12:123735618 [GRCh38] Chr12:124220165 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002136018] |
Chr12:123727882 [GRCh38] Chr12:124212429 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.826-14T>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002183760] |
Chr12:123737045 [GRCh38] Chr12:124221592 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1038+19C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002176473] |
Chr12:123737290 [GRCh38] Chr12:124221837 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002099751] |
Chr12:123733982 [GRCh38] Chr12:124218529 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1605+16T>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002203391] |
Chr12:123744988 [GRCh38] Chr12:124229535 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV005008482]|not specified [RCV002223077] |
Chr12:123744225 [GRCh38] Chr12:124228772 [GRCh37] Chr12:12q24.31 |
likely pathogenic|uncertain significance |
NC_000012.11:g.(?_122277634)_(124242579_?)del |
deletion |
not provided [RCV003111519] |
Chr12:122277634..124242579 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003118181]|ATP6V0A2-related disorder [RCV003936702] |
Chr12:123752378 [GRCh38] Chr12:124236925 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003112807] |
Chr12:123724741 [GRCh38] Chr12:124209288 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003116238] |
Chr12:123751127 [GRCh38] Chr12:124235674 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs) |
deletion |
Cutis laxa [RCV003123476] |
Chr12:123756914 [GRCh38] Chr12:124241461 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003093949]|not provided [RCV002244474] |
Chr12:123743852 [GRCh38] Chr12:124228399 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003097691]|not provided [RCV002285733] |
Chr12:123743816 [GRCh38] Chr12:124228363 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser) |
single nucleotide variant |
not provided [RCV002293664] |
Chr12:123718633 [GRCh38] Chr12:124203180 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu) |
single nucleotide variant |
not specified [RCV002266449] |
Chr12:123724657 [GRCh38] Chr12:124209204 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002297610] |
Chr12:123754450 [GRCh38] Chr12:124238997 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.826-89GA[3] |
microsatellite |
not provided [RCV003129370] |
Chr12:123736969..123736970 [GRCh38] Chr12:124221516..124221517 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002299395] |
Chr12:123751189 [GRCh38] Chr12:124235736 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1493A>G (p.His498Arg) |
single nucleotide variant |
not provided [RCV002306314] |
Chr12:123744763 [GRCh38] Chr12:124229310 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002302058] |
Chr12:123744320 [GRCh38] Chr12:124228867 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002971466] |
Chr12:123744746 [GRCh38] Chr12:124229293 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002750650] |
Chr12:123747666 [GRCh38] Chr12:124232213 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002750361] |
Chr12:123712646 [GRCh38] Chr12:124197193 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002903087] |
Chr12:123743844 [GRCh38] Chr12:124228391 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del |
microsatellite |
ALG9 congenital disorder of glycosylation [RCV002880707] |
Chr12:123737288..123737290 [GRCh38] Chr12:124221835..124221837 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.72G>A (p.Glu24=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002819925] |
Chr12:123712637 [GRCh38] Chr12:124197184 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002975016] |
Chr12:123758002 [GRCh38] Chr12:124242549 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002996662] |
Chr12:123737195 [GRCh38] Chr12:124221742 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002776227] |
Chr12:123756909 [GRCh38] Chr12:124241456 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2056-20T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002686331] |
Chr12:123752263 [GRCh38] Chr12:124236810 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2055+8C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002613683] |
Chr12:123751237 [GRCh38] Chr12:124235784 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del) |
microsatellite |
ALG9 congenital disorder of glycosylation [RCV003080252] |
Chr12:123744765..123744767 [GRCh38] Chr12:124229312..124229314 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002889523] |
Chr12:123727789 [GRCh38] Chr12:124212336 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA |
insertion |
ALG9 congenital disorder of glycosylation [RCV003036605] |
Chr12:123757910..123757911 [GRCh38] Chr12:124242457..124242458 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002572086] |
Chr12:123754500 [GRCh38] Chr12:124239047 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003021197] |
Chr12:123744322 [GRCh38] Chr12:124228869 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup |
duplication |
ALG9 congenital disorder of glycosylation [RCV002781178] |
Chr12:123751246..123751247 [GRCh38] Chr12:124235793..124235794 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002795846] |
Chr12:123744754 [GRCh38] Chr12:124229301 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002659531] |
Chr12:123751162 [GRCh38] Chr12:124235709 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002619792] |
Chr12:123712643 [GRCh38] Chr12:124197190 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1725-10del |
deletion |
ALG9 congenital disorder of glycosylation [RCV002796939] |
Chr12:123748562 [GRCh38] Chr12:124233109 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.294+16C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002761283] |
Chr12:123722464 [GRCh38] Chr12:124207011 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.196+8T>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002706034] |
Chr12:123718709 [GRCh38] Chr12:124203256 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002998842] |
Chr12:123754437 [GRCh38] Chr12:124238984 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003052884] |
Chr12:123724765 [GRCh38] Chr12:124209312 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del |
microsatellite |
ALG9 congenital disorder of glycosylation [RCV002695711] |
Chr12:123752263..123752264 [GRCh38] Chr12:124236810..124236811 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002637335] |
Chr12:123743874 [GRCh38] Chr12:124228421 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002591980] |
Chr12:123744761 [GRCh38] Chr12:124229308 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002848362] |
Chr12:123748776 [GRCh38] Chr12:124233323 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.826-20C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003077365] |
Chr12:123737039 [GRCh38] Chr12:124221586 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003078121] |
Chr12:123747668 [GRCh38] Chr12:124232215 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.117+9C>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002638905] |
Chr12:123712691 [GRCh38] Chr12:124197238 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002636574]|Inborn genetic diseases [RCV002620333] |
Chr12:123735604 [GRCh38] Chr12:124220151 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003077499] |
Chr12:123757951 [GRCh38] Chr12:124242498 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003077504] |
Chr12:123744707 [GRCh38] Chr12:124229254 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003054052] |
Chr12:123751173 [GRCh38] Chr12:124235720 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2294-12A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003078279] |
Chr12:123756803 [GRCh38] Chr12:124241350 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002592248]|not provided [RCV005002960] |
Chr12:123712584 [GRCh38] Chr12:124197131 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002797313] |
Chr12:123724661 [GRCh38] Chr12:124209208 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002621855] |
Chr12:123733945 [GRCh38] Chr12:124218492 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002797130] |
Chr12:123748630 [GRCh38] Chr12:124233177 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002622721]|not provided [RCV004763443] |
Chr12:123734005 [GRCh38] Chr12:124218552 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.648+13C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002796693] |
Chr12:123727922 [GRCh38] Chr12:124212469 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.649-20T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002928398] |
Chr12:123733906 [GRCh38] Chr12:124218453 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1515-9T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002741786] |
Chr12:123744873 [GRCh38] Chr12:124229420 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.118-9T>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002876736] |
Chr12:123718614 [GRCh38] Chr12:124203161 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002745495] |
Chr12:123752294 [GRCh38] Chr12:124236841 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002894758] |
Chr12:123754467 [GRCh38] Chr12:124239014 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002642827] |
Chr12:123737082 [GRCh38] Chr12:124221629 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002958790]|Cutis laxa with osteodystrophy [RCV004725432]|Inborn genetic diseases [RCV002962036] |
Chr12:123737209 [GRCh38] Chr12:124221756 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.1558A>T (p.Ser520Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002709433] |
Chr12:123744925 [GRCh38] Chr12:124229472 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003058403] |
Chr12:123751189 [GRCh38] Chr12:124235736 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002828626] |
Chr12:123752284 [GRCh38] Chr12:124236831 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.472G>A (p.Asp158Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002698637]|not provided [RCV004765741] |
Chr12:123726236 [GRCh38] Chr12:124210783 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.118-13A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003084461] |
Chr12:123718610 [GRCh38] Chr12:124203157 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1039-1G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002851954] |
Chr12:123743784 [GRCh38] Chr12:124228331 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002624180] |
Chr12:123733998 [GRCh38] Chr12:124218545 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002982600] |
Chr12:123737097 [GRCh38] Chr12:124221644 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002711753] |
Chr12:123722359 [GRCh38] Chr12:124206906 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs) |
deletion |
Cutis laxa with osteodystrophy [RCV002789998] |
Chr12:123712581..123712584 [GRCh38] Chr12:124197128..124197131 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002765455] |
Chr12:123712667 [GRCh38] Chr12:124197214 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+20_117+21insT |
insertion |
ALG9 congenital disorder of glycosylation [RCV002623864] |
Chr12:123712702..123712703 [GRCh38] Chr12:124197249..124197250 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002666857] |
Chr12:123744751 [GRCh38] Chr12:124229298 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1661T>C (p.Met554Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002930793] |
Chr12:123747662 [GRCh38] Chr12:124232209 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1190-7dup |
duplication |
ALG9 congenital disorder of glycosylation [RCV003083770] |
Chr12:123744188..123744189 [GRCh38] Chr12:124228735..124228736 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002929173] |
Chr12:123751122 [GRCh38] Chr12:124235669 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002598684] |
Chr12:123747629 [GRCh38] Chr12:124232176 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002577324] |
Chr12:123757952 [GRCh38] Chr12:124242499 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002631391] |
Chr12:123747675 [GRCh38] Chr12:124232222 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003048540] |
Chr12:123737240 [GRCh38] Chr12:124221787 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1403A>G (p.Tyr468Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002673034] |
Chr12:123744673 [GRCh38] Chr12:124229220 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002632836] |
Chr12:123712628 [GRCh38] Chr12:124197175 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002857705] |
Chr12:123744623 [GRCh38] Chr12:124229170 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2056-14C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002877457] |
Chr12:123752269 [GRCh38] Chr12:124236816 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002649779] |
Chr12:123727825 [GRCh38] Chr12:124212372 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1326+7A>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002900529] |
Chr12:123744344 [GRCh38] Chr12:124228891 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003062114] |
Chr12:123733956 [GRCh38] Chr12:124218503 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.294+18A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002857426] |
Chr12:123722466 [GRCh38] Chr12:124207013 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003010191] |
Chr12:123724729 [GRCh38] Chr12:124209276 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003010198] |
Chr12:123737172 [GRCh38] Chr12:124221719 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer) |
duplication |
ALG9 congenital disorder of glycosylation [RCV003062556]|Cutis laxa with osteodystrophy [RCV005010898] |
Chr12:123724747..123724748 [GRCh38] Chr12:124209294..124209295 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs) |
deletion |
ALG9 congenital disorder of glycosylation [RCV003063983] |
Chr12:123751119..123751120 [GRCh38] Chr12:124235666..124235667 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002651034] |
Chr12:123754474 [GRCh38] Chr12:124239021 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002671002] |
Chr12:123724732 [GRCh38] Chr12:124209279 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.197-16A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003062611] |
Chr12:123722335 [GRCh38] Chr12:124206882 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003089695]|Inborn genetic diseases [RCV004676140] |
Chr12:123744234 [GRCh38] Chr12:124228781 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002631668] |
Chr12:123744640 [GRCh38] Chr12:124229187 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.731+6A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002857231] |
Chr12:123734014 [GRCh38] Chr12:124218561 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002600530]|not provided [RCV003443063] |
Chr12:123735568 [GRCh38] Chr12:124220115 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002856948] |
Chr12:123726283 [GRCh38] Chr12:124210830 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002770136] |
Chr12:123756849 [GRCh38] Chr12:124241396 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003045790] |
Chr12:123743827 [GRCh38] Chr12:124228374 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2501G>A (p.Gly834Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002812441] |
Chr12:123757962 [GRCh38] Chr12:124242509 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002721022] |
Chr12:123757992 [GRCh38] Chr12:124242539 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2466-16C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003063722] |
Chr12:123757911 [GRCh38] Chr12:124242458 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003088363]|not provided [RCV004820271] |
Chr12:123718693 [GRCh38] Chr12:124203240 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002634153] |
Chr12:123756850 [GRCh38] Chr12:124241397 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1765C>T (p.Pro589Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004966890] |
Chr12:123748615 [GRCh38] Chr12:124233162 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.946A>G (p.Ser316Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004966891] |
Chr12:123737179 [GRCh38] Chr12:124221726 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1503G>A (p.Met501Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004966892] |
Chr12:123744773 [GRCh38] Chr12:124229320 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1196T>C (p.Phe399Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004966893] |
Chr12:123744207 [GRCh38] Chr12:124228754 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2062T>C (p.Tyr688His) |
single nucleotide variant |
Inborn genetic diseases [RCV004966894] |
Chr12:123752289 [GRCh38] Chr12:124236836 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2530C>G (p.Leu844Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004966895] |
Chr12:123757991 [GRCh38] Chr12:124242538 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.826-15G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002603374] |
Chr12:123737044 [GRCh38] Chr12:124221591 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003051277]|Inborn genetic diseases [RCV003294427] |
Chr12:123756970 [GRCh38] Chr12:124241517 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002606550]|Inborn genetic diseases [RCV004676156] |
Chr12:123743903 [GRCh38] Chr12:124228450 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003071593] |
Chr12:123756904 [GRCh38] Chr12:124241451 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002654898]|not provided [RCV004775309] |
Chr12:123727818 [GRCh38] Chr12:124212365 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002611185] |
Chr12:123751115 [GRCh38] Chr12:124235662 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.744C>T (p.His248=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003068056] |
Chr12:123735543 [GRCh38] Chr12:124220090 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003068311] |
Chr12:123757970 [GRCh38] Chr12:124242517 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003070089] |
Chr12:123737232 [GRCh38] Chr12:124221779 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003070307] |
Chr12:123744242 [GRCh38] Chr12:124228789 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV002612635] |
Chr12:123748782 [GRCh38] Chr12:124233329 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2056-2dup |
duplication |
not specified [RCV003155843] |
Chr12:123752280..123752281 [GRCh38] Chr12:124236827..124236828 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1219T>C (p.Leu407=) |
single nucleotide variant |
not provided [RCV003222782] |
Chr12:123744230 [GRCh38] Chr12:124228777 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1084A>G (p.Thr362Ala) |
single nucleotide variant |
not provided [RCV003143654] |
Chr12:123743830 [GRCh38] Chr12:124228377 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.170G>C (p.Arg57Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003201447] |
Chr12:123718675 [GRCh38] Chr12:124203222 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1981C>G (p.Pro661Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003356546] |
Chr12:123751155 [GRCh38] Chr12:124235702 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1300C>A (p.His434Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003363766] |
Chr12:123744311 [GRCh38] Chr12:124228858 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2533C>T (p.Leu845Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003369571] |
Chr12:123757994 [GRCh38] Chr12:124242541 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.118-4T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003503229] |
Chr12:123718619 [GRCh38] Chr12:124203166 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003503238] |
Chr12:123744302 [GRCh38] Chr12:124228849 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.118-6del |
deletion |
ALG9 congenital disorder of glycosylation [RCV003503230] |
Chr12:123718614 [GRCh38] Chr12:124203161 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1724+20dup |
duplication |
ALG9 congenital disorder of glycosylation [RCV003504239] |
Chr12:123747736..123747737 [GRCh38] Chr12:124232283..124232284 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003503653] |
Chr12:123737126 [GRCh38] Chr12:124221673 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003503657] |
Chr12:123747678 [GRCh38] Chr12:124232225 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+1del |
deletion |
ALG9 congenital disorder of glycosylation [RCV003504570]|Cutis laxa with osteodystrophy [RCV005013034] |
Chr12:123712683 [GRCh38] Chr12:124197230 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.1605+10C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003504354] |
Chr12:123744982 [GRCh38] Chr12:124229529 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+13C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003503850] |
Chr12:123712695 [GRCh38] Chr12:124197242 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1515-9T>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003503999] |
Chr12:123744873 [GRCh38] Chr12:124229420 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003504459] |
Chr12:123744680 [GRCh38] Chr12:124229227 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003504022] |
Chr12:123748747 [GRCh38] Chr12:124233294 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609301]|not provided [RCV003482862] |
Chr12:123726280 [GRCh38] Chr12:124210827 [GRCh37] Chr12:12q24.31 |
likely benign|uncertain significance |
NM_012463.4(ATP6V0A2):c.117+7G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003504179] |
Chr12:123712689 [GRCh38] Chr12:124197236 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502815] |
Chr12:123724772 [GRCh38] Chr12:124209319 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2056-10T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003503773] |
Chr12:123752273 [GRCh38] Chr12:124236820 [GRCh37] Chr12:12q24.31 |
likely benign |
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3 |
copy number gain |
not provided [RCV003484881] |
Chr12:121551496..133777902 [GRCh37] Chr12:12q24.31-24.33 |
pathogenic |
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 |
copy number gain |
not provided [RCV003484880] |
Chr12:120880079..133777902 [GRCh37] Chr12:12q24.31-24.33 |
pathogenic |
GRCh37/hg19 12q24.31(chr12:124232946-124728014)x3 |
copy number gain |
not provided [RCV003484883] |
Chr12:124232946..124728014 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1152T>C (p.Asp384=) |
single nucleotide variant |
not provided [RCV003410942] |
Chr12:123743898 [GRCh38] Chr12:124228445 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609778] |
Chr12:123737252 [GRCh38] Chr12:124221799 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1039-15T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609467] |
Chr12:123743770 [GRCh38] Chr12:124228317 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del |
deletion |
ALG9 congenital disorder of glycosylation [RCV003609704] |
Chr12:123744873..123744875 [GRCh38] Chr12:124229420..124229422 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs) |
deletion |
ALG9 congenital disorder of glycosylation [RCV003608745] |
Chr12:123724735..123724736 [GRCh38] Chr12:124209282..124209283 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.433-5T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610097] |
Chr12:123726192 [GRCh38] Chr12:124210739 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609662] |
Chr12:123737109 [GRCh38] Chr12:124221656 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2055+9G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609828] |
Chr12:123751238 [GRCh38] Chr12:124235785 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609965] |
Chr12:123744256 [GRCh38] Chr12:124228803 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2466-3del |
deletion |
ALG9 congenital disorder of glycosylation [RCV003609993] |
Chr12:123757912 [GRCh38] Chr12:124242459 [GRCh37] Chr12:12q24.31 |
benign |
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003608898] |
Chr12:123747640 [GRCh38] Chr12:124232187 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609810] |
Chr12:123748617 [GRCh38] Chr12:124233164 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609738] |
Chr12:123744677 [GRCh38] Chr12:124229224 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609765] |
Chr12:123754499 [GRCh38] Chr12:124239046 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610013] |
Chr12:123748626 [GRCh38] Chr12:124233173 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609897] |
Chr12:123754533 [GRCh38] Chr12:124239080 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610157] |
Chr12:123747616 [GRCh38] Chr12:124232163 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1724+11A>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610174] |
Chr12:123747736 [GRCh38] Chr12:124232283 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.731+12A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609918] |
Chr12:123734020 [GRCh38] Chr12:124218567 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs) |
deletion |
ALG9 congenital disorder of glycosylation [RCV003610175] |
Chr12:123744970 [GRCh38] Chr12:124229517 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610065] |
Chr12:123724695 [GRCh38] Chr12:124209242 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+10G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003608809]|ATP6V0A2-related disorder [RCV003929280] |
Chr12:123712692 [GRCh38] Chr12:124197239 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003878756] |
Chr12:123726223 [GRCh38] Chr12:124210770 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609000] |
Chr12:123748680 [GRCh38] Chr12:124233227 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.294+16C>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003829759] |
Chr12:123722464 [GRCh38] Chr12:124207011 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609752] |
Chr12:123722388 [GRCh38] Chr12:124206935 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.649-15A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003608801] |
Chr12:123733911 [GRCh38] Chr12:124218458 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.294+17G>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609515] |
Chr12:123722465 [GRCh38] Chr12:124207012 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+19A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003830213] |
Chr12:123712701 [GRCh38] Chr12:124197248 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609476] |
Chr12:123733943 [GRCh38] Chr12:124218490 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003608776] |
Chr12:123751168 [GRCh38] Chr12:124235715 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609317] |
Chr12:123744725 [GRCh38] Chr12:124229272 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609016] |
Chr12:123744743 [GRCh38] Chr12:124229290 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609378] |
Chr12:123756969 [GRCh38] Chr12:124241516 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609394] |
Chr12:123748605 [GRCh38] Chr12:124233152 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609644]|ATP6V0A2-related disorder [RCV003929324] |
Chr12:123744632 [GRCh38] Chr12:124229179 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003609425] |
Chr12:123727906 [GRCh38] Chr12:124212453 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.731+16A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003878200] |
Chr12:123734024 [GRCh38] Chr12:124218571 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003877342] |
Chr12:123752324 [GRCh38] Chr12:124236871 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2056-2A>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610715] |
Chr12:123752281 [GRCh38] Chr12:124236828 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610370] |
Chr12:123744259 [GRCh38] Chr12:124228806 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610955] |
Chr12:123757933 [GRCh38] Chr12:124242480 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer) |
deletion |
ALG9 congenital disorder of glycosylation [RCV003610439] |
Chr12:123737082 [GRCh38] Chr12:124221629 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610639] |
Chr12:123735567 [GRCh38] Chr12:124220114 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502354] |
Chr12:123756891 [GRCh38] Chr12:124241438 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610579] |
Chr12:123744661 [GRCh38] Chr12:124229208 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs) |
deletion |
ALG9 congenital disorder of glycosylation [RCV003849744] |
Chr12:123756825 [GRCh38] Chr12:124241372 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610823] |
Chr12:123712655 [GRCh38] Chr12:124197202 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610912] |
Chr12:123758014 [GRCh38] Chr12:124242561 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502171]|Cutis laxa with osteodystrophy [RCV005013044] |
Chr12:123743935 [GRCh38] Chr12:124228482 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.826-18C>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610540] |
Chr12:123737041 [GRCh38] Chr12:124221588 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.197-14T>A |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003502224] |
Chr12:123722337 [GRCh38] Chr12:124206884 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2466-16C>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003610753] |
Chr12:123757911 [GRCh38] Chr12:124242458 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003861084] |
Chr12:123737110 [GRCh38] Chr12:124221657 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1725-9C>T |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003847897] |
Chr12:123748566 [GRCh38] Chr12:124233113 [GRCh37] Chr12:12q24.31 |
likely benign |
GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1 |
copy number loss |
not specified [RCV003986985] |
Chr12:123640263..124319101 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003846993] |
Chr12:123724692 [GRCh38] Chr12:124209239 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.117+20C>G |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003865080] |
Chr12:123712702 [GRCh38] Chr12:124197249 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2465+20T>C |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003846169] |
Chr12:123757006 [GRCh38] Chr12:124241553 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003858222] |
Chr12:123744925 [GRCh38] Chr12:124229472 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=) |
single nucleotide variant |
ALG9 congenital disorder of glycosylation [RCV003843507] |
Chr12:123751208 [GRCh38] Chr12:124235755 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1672T>G (p.Leu558Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004418710] |
Chr12:123747673 [GRCh38] Chr12:124232220 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1705C>G (p.Leu569Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004418711] |
Chr12:123747706 [GRCh38] Chr12:124232253 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.427G>A (p.Val143Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004418714] |
Chr12:123724786 [GRCh38] Chr12:124209333 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2359G>A (p.Val787Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004418712] |
Chr12:123756880 [GRCh38] Chr12:124241427 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1886A>C (p.Asn629Thr) |
single nucleotide variant |
not specified [RCV004526468] |
Chr12:123748736 [GRCh38] Chr12:124233283 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.2466-4_2466-3dup |
duplication |
ATP6V0A2-related disorder [RCV003896768] |
Chr12:123757911..123757912 [GRCh38] Chr12:124242458..124242459 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.177A>G (p.Glu59=) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV003964544] |
Chr12:123718682 [GRCh38] Chr12:124203229 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1431C>G (p.Asn477Lys) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV003937228] |
Chr12:123744701 [GRCh38] Chr12:124229248 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1281G>A (p.Leu427=) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV003983626] |
Chr12:123744292 [GRCh38] Chr12:124228839 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.2388C>T (p.Leu796=) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV003964148] |
Chr12:123756909 [GRCh38] Chr12:124241456 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1986C>G (p.Val662=) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV003899336] |
Chr12:123751160 [GRCh38] Chr12:124235707 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.1764C>T (p.Ile588=) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV003901456] |
Chr12:123748614 [GRCh38] Chr12:124233161 [GRCh37] Chr12:12q24.31 |
likely benign |
NM_012463.4(ATP6V0A2):c.598A>G (p.Thr200Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004418715] |
Chr12:123727859 [GRCh38] Chr12:124212406 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1A>T (p.Met1Leu) |
single nucleotide variant |
not provided [RCV004696696] |
Chr12:123712566 [GRCh38] Chr12:124197113 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NC_000012.11:g.(?_120270555)_(124242579_?)dup |
duplication |
Deficiency of butyryl-CoA dehydrogenase [RCV004578383] |
Chr12:120270555..124242579 [GRCh37] Chr12:12q24.23-24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.654A>C (p.Glu218Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004680293] |
Chr12:123733931 [GRCh38] Chr12:124218478 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.874G>A (p.Ala292Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004680294] |
Chr12:123737107 [GRCh38] Chr12:124221654 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.313G>A (p.Glu105Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004676345]|not specified [RCV004587684] |
Chr12:123724672 [GRCh38] Chr12:124209219 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs) |
deletion |
Cutis laxa with osteodystrophy [RCV004690466] |
Chr12:123743792 [GRCh38] Chr12:124228339 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.1650C>G (p.Phe550Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004680285] |
Chr12:123747651 [GRCh38] Chr12:124232198 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NC_000012.11:g.(?_124171363)_(124242579_?)del |
deletion |
Familial aplasia of the vermis [RCV004578391] |
Chr12:124171363..124242579 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1529G>T (p.Arg510Ile) |
single nucleotide variant |
not specified [RCV004699807] |
Chr12:123744896 [GRCh38] Chr12:124229443 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1562T>C (p.Ile521Thr) |
single nucleotide variant |
not provided [RCV004772600] |
Chr12:123744929 [GRCh38] Chr12:124229476 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1236del (p.Phe412fs) |
deletion |
not provided [RCV004781062] |
Chr12:123744245 [GRCh38] Chr12:124228792 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.1453G>A (p.Val485Met) |
single nucleotide variant |
not provided [RCV004781454] |
Chr12:123744723 [GRCh38] Chr12:124229270 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.82G>T (p.Ala28Ser) |
single nucleotide variant |
not provided [RCV004811315] |
Chr12:123712647 [GRCh38] Chr12:124197194 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1116C>G (p.Thr372=) |
single nucleotide variant |
not provided [RCV004766430] |
Chr12:123743862 [GRCh38] Chr12:124228409 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.466G>C (p.Glu156Gln) |
single nucleotide variant |
not provided [RCV004761568] |
|
uncertain significance |
NM_012463.4(ATP6V0A2):c.724T>G (p.Cys242Gly) |
single nucleotide variant |
not provided [RCV004773870] |
Chr12:123734001 [GRCh38] Chr12:124218548 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1609T>C (p.Trp537Arg) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV004767606] |
Chr12:123747610 [GRCh38] Chr12:124232157 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.2136C>G (p.His712Gln) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV004757650] |
Chr12:123752363 [GRCh38] Chr12:124236910 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1805T>C (p.Ile602Thr) |
single nucleotide variant |
ATP6V0A2-related disorder [RCV004757651] |
Chr12:123748655 [GRCh38] Chr12:124233202 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.1627C>T (p.Arg543Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004968626]|not provided [RCV004762398] |
|
uncertain significance |
NM_012463.4(ATP6V0A2):c.743A>G (p.His248Arg) |
single nucleotide variant |
not provided [RCV005052715] |
Chr12:123735542 [GRCh38] Chr12:124220089 [GRCh37] Chr12:12q24.31 |
uncertain significance |
NM_012463.4(ATP6V0A2):c.130del (p.Asn43_Val44insTer) |
deletion |
Cutis laxa with osteodystrophy [RCV005008884] |
Chr12:123718635 [GRCh38] Chr12:124203182 [GRCh37] Chr12:12q24.31 |
pathogenic |
NM_012463.4(ATP6V0A2):c.726T>A (p.Cys242Ter) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV005008886] |
Chr12:123734003 [GRCh38] Chr12:124218550 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.208C>T (p.Gln70Ter) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV005008885] |
Chr12:123722362 [GRCh38] Chr12:124206909 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.1724+2T>C |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV005008889] |
Chr12:123747727 [GRCh38] Chr12:124232274 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.124C>T (p.Gln42Ter) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV005008883] |
Chr12:123718629 [GRCh38] Chr12:124203176 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.1418C>G (p.Ser473Ter) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV005008888] |
Chr12:123744688 [GRCh38] Chr12:124229235 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.2137C>T (p.Gln713Ter) |
single nucleotide variant |
Cutis laxa with osteodystrophy [RCV005008890] |
Chr12:123752364 [GRCh38] Chr12:124236911 [GRCh37] Chr12:12q24.31 |
likely pathogenic |
NM_012463.4(ATP6V0A2):c.2442del (p.Leu815fs) |
deletion |
Cutis laxa with osteodystrophy [RCV005008891] |
Chr12:123756961 [GRCh38] Chr12:124241508 [GRCh37] Chr12:12q24.31 |
likely pathogenic |