ClinVar for MedGen (Select 337257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336071	NM_005765.3(ATP6AP2):c.284C>A (p.Ser95Ter)	ATP6AP2 (S95*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Hedera type	GPathogenic
Select item 3244828	NC_000023.10:g.(?_40440318)_(40465007_?)dup	ATP6AP2	Duplication	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 3148959	NM_005765.3(ATP6AP2):c.452T>C (p.Leu151Ser)	ATP6AP2 (L151S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 3002860	NM_005765.3(ATP6AP2):c.891T>C (p.Tyr297=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2988139	NM_005765.3(ATP6AP2):c.328G>A (p.Ala110Thr)	ATP6AP2 (A110T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2964240	NM_005765.3(ATP6AP2):c.930A>G (p.Val310=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2959090	NM_005765.3(ATP6AP2):c.323G>A (p.Ser108Asn)	ATP6AP2 (S108N)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2959088	NM_005765.3(ATP6AP2):c.192A>T (p.Ala64=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2916176	NM_005765.3(ATP6AP2):c.859-5T>C	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2911226	NM_005765.3(ATP6AP2):c.98G>A (p.Gly33Glu)	ATP6AP2 (G33E)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type +1 more	GUncertain significance
Select item 2894471	NM_005765.3(ATP6AP2):c.735A>G (p.Gln245=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2876792	NM_005765.3(ATP6AP2):c.589-6C>T	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2872270	NM_005765.3(ATP6AP2):c.252C>T (p.Asn84=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2860889	NM_005765.3(ATP6AP2):c.127C>T (p.Pro43Ser)	ATP6AP2 (P43S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2854271	NM_005765.3(ATP6AP2):c.397-16T>G	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2853348	NM_005765.3(ATP6AP2):c.777A>G (p.Ala259=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2844074	NM_005765.3(ATP6AP2):c.365C>T (p.Pro122Leu)	ATP6AP2 (P122L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type +1 more	GUncertain significance
Select item 2837212	NM_005765.3(ATP6AP2):c.1008T>C (p.Asp336=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2810452	NM_005765.3(ATP6AP2):c.858+4A>G	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2799225	NM_005765.3(ATP6AP2):c.766G>T (p.Gly256Cys)	ATP6AP2 (G256C)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2756836	NM_005765.3(ATP6AP2):c.37+5G>A	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2752867	NM_005765.3(ATP6AP2):c.739-5_739-4del	ATP6AP2	Deletion (intron variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2752206	NM_005765.3(ATP6AP2):c.169G>A (p.Asp57Asn)	ATP6AP2 (D57N)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2742289	NM_005765.3(ATP6AP2):c.913G>A (p.Val305Met)	ATP6AP2 (V305M)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2739477	NM_005765.3(ATP6AP2):c.37+18G>A	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2729746	NM_005765.3(ATP6AP2):c.35C>T (p.Ala12Val)	ATP6AP2, LOC130068149 (A12V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2718755	NM_005765.3(ATP6AP2):c.60T>C (p.Ser20=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2711281	NM_005765.3(ATP6AP2):c.168+3A>G	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2703046	NM_005765.3(ATP6AP2):c.375G>T (p.Leu125Phe)	ATP6AP2 (L125F)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2697266	NM_005765.3(ATP6AP2):c.397-9T>A	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2696200	NM_005765.3(ATP6AP2):c.857C>T (p.Ala286Val)	ATP6AP2 (A286V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2664193	NM_005765.3(ATP6AP2):c.365C>A (p.Pro122His)	ATP6AP2 (P122H)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2550432	NM_005765.3(ATP6AP2):c.775G>A (p.Ala259Thr)	ATP6AP2 (A259T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type +1 more	GUncertain significance
Select item 2532086	NM_005765.3(ATP6AP2):c.500C>T (p.Ser167Leu)	ATP6AP2 (S167L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type +1 more	GUncertain significance
Select item 2425418	NC_000023.10:g.(?_40464793)_(40465007_?)dup	ATP6AP2	Duplication	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2423950	NC_000023.10:g.(?_39911362)_(41782241_?)del	ATP6AP2, BCOR +9 more	Deletion	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2417448	NM_005765.3(ATP6AP2):c.176C>G (p.Ser59Cys)	ATP6AP2 (S59C)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2417287	NM_005765.3(ATP6AP2):c.979A>G (p.Asn327Asp)	ATP6AP2 (N327D)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2151425	NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GBenign
Select item 2148196	NM_005765.3(ATP6AP2):c.727G>A (p.Ala243Thr)	ATP6AP2 (A243T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2140001	NM_005765.3(ATP6AP2):c.878A>C (p.Tyr293Ser)	ATP6AP2 (Y293S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2106655	NM_005765.3(ATP6AP2):c.37+15G>A	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2103174	NM_005765.3(ATP6AP2):c.945C>T (p.Ile315=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2100311	NM_005765.3(ATP6AP2):c.954C>G (p.Ala318=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2097781	NM_005765.3(ATP6AP2):c.351T>G (p.Phe117Leu)	ATP6AP2 (F117L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2097628	NM_005765.3(ATP6AP2):c.340C>T (p.His114Tyr)	ATP6AP2 (H114Y)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2096530	NM_005765.3(ATP6AP2):c.534+10G>A	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2087281	NM_005765.3(ATP6AP2):c.529A>G (p.Asn177Asp)	ATP6AP2 (N177D)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2075421	NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GConflicting classifications of pathogenicity
Select item 2073360	NM_005765.3(ATP6AP2):c.811A>T (p.Thr271Ser)	ATP6AP2 (T271S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2041244	NM_005765.3(ATP6AP2):c.594T>G (p.Ser198=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2029035	NM_005765.3(ATP6AP2):c.946G>A (p.Ala316Thr)	ATP6AP2 (A316T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2027922	NM_005765.3(ATP6AP2):c.6T>A (p.Ala2=)	ATP6AP2, LOC130068149	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2003915	NM_005765.3(ATP6AP2):c.589-19G>A	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2001095	NM_005765.3(ATP6AP2):c.738+10A>T	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1999469	NM_005765.3(ATP6AP2):c.168+15T>G	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1998069	NM_005765.3(ATP6AP2):c.37+17C>G	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1994919	NM_005765.3(ATP6AP2):c.546C>T (p.Leu182=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1910865	NM_005765.3(ATP6AP2):c.315T>A (p.Ser105Arg)	ATP6AP2 (S105R)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1698925	NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr)	ATP6AP2 (D210Y)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GLikely pathogenic
Select item 1668725	NM_005765.3(ATP6AP2):c.888A>G (p.Ala296=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1666692	NM_005765.3(ATP6AP2):c.372T>G (p.Val124=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1662853	NM_005765.3(ATP6AP2):c.589-12T>C	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1659667	NM_005765.3(ATP6AP2):c.411A>G (p.Val137=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1653981	NM_005765.3(ATP6AP2):c.51C>T (p.Asn17=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type +1 more	GLikely benign
Select item 1650504	NM_005765.3(ATP6AP2):c.834G>A (p.Arg278=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1639741	NM_005765.3(ATP6AP2):c.38-13G>A	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1635112	NM_005765.3(ATP6AP2):c.285G>C (p.Ser95=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1628863	NM_005765.3(ATP6AP2):c.168+7A>G	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1608741	NM_005765.3(ATP6AP2):c.678T>C (p.Tyr226=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1608405	NM_005765.3(ATP6AP2):c.324T>C (p.Ser108=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1603981	NM_005765.3(ATP6AP2):c.37+12G>A	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1597914	NM_005765.3(ATP6AP2):c.534+14T>A	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1589873	NM_005765.3(ATP6AP2):c.534+8C>T	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1563741	NM_005765.3(ATP6AP2):c.859-11C>G	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1552210	NM_005765.3(ATP6AP2):c.534+16C>T	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1533873	NM_005765.3(ATP6AP2):c.535-14T>G	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1530508	NM_005765.3(ATP6AP2):c.738+15G>A	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1519106	NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu)	ATP6AP2 (G16E)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1513839	NM_005765.3(ATP6AP2):c.454C>T (p.Arg152Cys)	ATP6AP2 (R152C)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1513046	NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)	ATP6AP2 (S92N)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type +1 more	GUncertain significance
Select item 1511062	NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met)	ATP6AP2 (V321M)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1499451	NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val)	ATP6AP2 (L88V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1493867	NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln)	ATP6AP2 (R41Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIr +1 more	GUncertain significance
Select item 1487814	NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr)	ATP6AP2 (M251T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1473519	NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn)	ATP6AP2 (K205N)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1471519	NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser)	ATP6AP2 (T150S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1462415	NM_005765.3(ATP6AP2):c.106C>T (p.Pro36Ser)	ATP6AP2 (P36S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1461326	NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile)	ATP6AP2 (M314I)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1435119	NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro)	ATP6AP2 (A87P)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1424480	NM_005765.3(ATP6AP2):c.589-3A>G	ATP6AP2	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1422943	NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val)	ATP6AP2 (E231V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1416589	NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn)	ATP6AP2 (D242N)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1401326	NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile)	ATP6AP2 (V76I)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1381753	NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys)	ATP6AP2 (R225C)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1359640	NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala)	ATP6AP2 (V179A)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 1346475	NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly)	ATP6AP2 (D180G)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type +1 more	GConflicting classifications of pathogenicity
Select item 1192374	NM_005765.3(ATP6AP2):c.534+45G>C	ATP6AP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1150298	NM_005765.3(ATP6AP2):c.444A>G (p.Ser148=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1139874	NM_005765.3(ATP6AP2):c.303A>G (p.Ala101=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign

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