ClinVar for Gene (Select 10159) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370766	NM_005765.3(ATP6AP2):c.300+4A>G	ATP6AP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3370202	NM_005765.3(ATP6AP2):c.734A>G (p.Gln245Arg)	ATP6AP2 (Q245R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366144	NM_005765.3(ATP6AP2):c.535-11dup	ATP6AP2	Duplication (intron variant)	not provided	GUncertain significance
Select item 3340729	NM_005765.3(ATP6AP2):c.38-8C>G	ATP6AP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3337001	NM_005765.3(ATP6AP2):c.1016T>C (p.Ile339Thr)	ATP6AP2 (I339T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3336070	NM_005765.3(ATP6AP2):c.295G>A (p.Glu99Lys)	ATP6AP2 (E99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252427	NM_005765.3(ATP6AP2):c.991A>G (p.Met331Val)	ATP6AP2 (M331V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251655	NM_005765.3(ATP6AP2):c.508C>A (p.Leu170Ile)	ATP6AP2 (L170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244828	NC_000023.10:g.(?_40440318)_(40465007_?)dup	ATP6AP2	Duplication	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3234620	NM_005765.3(ATP6AP2):c.739-5T>G	ATP6AP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
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 2660321	NM_005765.3(ATP6AP2):c.622T>C (p.Ser208Pro)	ATP6AP2 (S208P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660320	NM_005765.3(ATP6AP2):c.618T>A (p.Asp206Glu)	ATP6AP2 (D206E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660319	NM_005765.3(ATP6AP2):c.463C>G (p.Arg155Gly)	ATP6AP2 (R155G)	Single nucleotide variant (missense variant)	not provided	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 2526286	NM_005765.3(ATP6AP2):c.52G>A (p.Glu18Lys)	ATP6AP2 (E18K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2480948	NM_005765.3(ATP6AP2):c.565G>A (p.Val189Met)	ATP6AP2 (V189M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444741	NM_005765.3(ATP6AP2):c.841C>T (p.Leu281Phe)	ATP6AP2 (L281F)	Single nucleotide variant (missense variant)	not provided	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 2423949	NC_000023.10:g.(?_39911362)_(41782241_?)dup	ATP6AP2, BCOR +9 more	Duplication	not provided	GUncertain significance
Select item 2423545	NC_000023.10:g.(?_40440318)_(41782241_?)dup	ATP6AP2, CASK +8 more	Duplication	not provided	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 2413007	NM_005765.3(ATP6AP2):c.66A>C (p.Leu22Phe)	ATP6AP2 (L22F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395509	NM_005765.3(ATP6AP2):c.707C>G (p.Ala236Gly)	ATP6AP2 (A236G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1698994	NM_005765.3(ATP6AP2):c.1028C>G (p.Thr343Arg)	ATP6AP2 (T343R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIr	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 1698275	NM_005765.3(ATP6AP2):c.746A>G (p.Asp249Gly)	ATP6AP2 (D249G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690870	NM_005765.3(ATP6AP2):c.666T>G (p.Ile222Met)	ATP6AP2 (I222M)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1683316	NM_005765.3(ATP6AP2):c.-70C>T	ATP6AP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1678484	NM_005765.3(ATP6AP2):c.*640A>G	ATP6AP2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1676402	NM_005765.3(ATP6AP2):c.32T>C (p.Val11Ala)	ATP6AP2 (V11A)	Single nucleotide variant	not provided	GUncertain significance

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