ClinVar for Gene (Select 245972) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329485	NM_152565.1(ATP6V0D2):c.947C>A (p.Ala316Glu)	ATP6V0D2 (A316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329479	NM_152565.1(ATP6V0D2):c.792G>T (p.Met264Ile)	ATP6V0D2 (M264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329477	NM_152565.1(ATP6V0D2):c.14C>T (p.Ala5Val)	ATP6V0D2 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329476	NM_152565.1(ATP6V0D2):c.946G>A (p.Ala316Thr)	ATP6V0D2 (A316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131879	NM_152565.1(ATP6V0D2):c.851G>A (p.Ser284Asn)	ATP6V0D2 (S284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131878	NM_152565.1(ATP6V0D2):c.745C>T (p.Pro249Ser)	ATP6V0D2 (P249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131876	NM_152565.1(ATP6V0D2):c.725C>T (p.Pro242Leu)	ATP6V0D2 (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131875	NM_152565.1(ATP6V0D2):c.722A>G (p.Tyr241Cys)	ATP6V0D2 (Y241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131874	NM_152565.1(ATP6V0D2):c.697A>C (p.Ser233Arg)	ATP6V0D2 (S233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131873	NM_152565.1(ATP6V0D2):c.500G>A (p.Cys167Tyr)	ATP6V0D2 (C167Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131871	NM_152565.1(ATP6V0D2):c.125T>G (p.Leu42Arg)	ATP6V0D2 (L42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131870	NM_152565.1(ATP6V0D2):c.101T>C (p.Ile34Thr)	ATP6V0D2 (I34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063037	GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	ATP6V0D2, CA1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2603714	NM_152565.1(ATP6V0D2):c.743A>G (p.Tyr248Cys)	ATP6V0D2 (Y248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591221	NM_152565.1(ATP6V0D2):c.440C>T (p.Pro147Leu)	ATP6V0D2 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591077	NM_152565.1(ATP6V0D2):c.823A>G (p.Lys275Glu)	ATP6V0D2 (K275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562453	NM_152565.1(ATP6V0D2):c.499T>G (p.Cys167Gly)	ATP6V0D2 (C167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559756	NM_152565.1(ATP6V0D2):c.209T>C (p.Ile70Thr)	ATP6V0D2 (I70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518436	NM_152565.1(ATP6V0D2):c.329T>C (p.Ile110Thr)	ATP6V0D2 (I110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494243	NM_152565.1(ATP6V0D2):c.29A>G (p.Asn10Ser)	ATP6V0D2 (N10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486675	NM_152565.1(ATP6V0D2):c.962A>G (p.Lys321Arg)	ATP6V0D2 (K321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482595	NM_152565.1(ATP6V0D2):c.454A>G (p.Asn152Asp)	ATP6V0D2 (N152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429602	NM_152565.1(ATP6V0D2):c.-54C>T	ATP6V0D2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2426512	NC_000008.10:g.(?_86053597)_(87755855_?)dup	ATP6V0D2, CA1 +12 more	Duplication	not provided	GUncertain significance
Select item 2407948	NM_152565.1(ATP6V0D2):c.256C>T (p.Arg86Trp)	ATP6V0D2 (R86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380372	NM_152565.1(ATP6V0D2):c.733G>T (p.Gly245Cys)	ATP6V0D2 (G245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364807	NM_152565.1(ATP6V0D2):c.809A>G (p.His270Arg)	ATP6V0D2 (H270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364670	NM_152565.1(ATP6V0D2):c.934G>A (p.Gly312Ser)	ATP6V0D2 (G312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309452	NM_152565.1(ATP6V0D2):c.1022C>T (p.Thr341Ile)	ATP6V0D2 (T341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307800	NM_152565.1(ATP6V0D2):c.200T>C (p.Val67Ala)	ATP6V0D2 (V67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285275	NM_152565.1(ATP6V0D2):c.529A>C (p.Asn177His)	ATP6V0D2 (N177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274491	NM_152565.1(ATP6V0D2):c.874G>A (p.Val292Met)	ATP6V0D2 (V292M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214237	NM_152565.1(ATP6V0D2):c.758G>A (p.Arg253Gln)	ATP6V0D2 (R253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808479	GRCh37/hg19 8q21.2-21.3(chr8:86841155-88126932)x1	ATP6V0D2, CNBD1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808058	GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1	ATP6V0D2, CALB1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1318316	NM_152565.1(ATP6V0D2):c.891+215C>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290360	NM_152565.1(ATP6V0D2):c.561+146C>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289910	NM_152565.1(ATP6V0D2):c.302+69G>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285746	NM_152565.1(ATP6V0D2):c.891+284C>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281964	NM_152565.1(ATP6V0D2):c.303-80G>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276727	NM_152565.1(ATP6V0D2):c.302+42G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275202	NM_152565.1(ATP6V0D2):c.562-12T>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272772	NM_152565.1(ATP6V0D2):c.639+42C>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272376	NM_152565.1(ATP6V0D2):c.891+215_891+217del	ATP6V0D2	Deletion (intron variant)	not provided	GBenign
Select item 1261707	NM_152565.1(ATP6V0D2):c.639+100del	ATP6V0D2	Deletion (intron variant)	not provided	GBenign
Select item 1261695	NM_152565.1(ATP6V0D2):c.817-199C>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257365	NM_152565.1(ATP6V0D2):c.130+178A>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249205	NM_152565.1(ATP6V0D2):c.817-245dup	ATP6V0D2	Duplication (intron variant)	not provided	GBenign
Select item 1248637	NM_152565.1(ATP6V0D2):c.562-69G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248392	NM_152565.1(ATP6V0D2):c.892-34T>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241979	NM_152565.1(ATP6V0D2):c.130+44dup	ATP6V0D2	Duplication (intron variant)	not provided	GBenign
Select item 1241267	NM_152565.1(ATP6V0D2):c.891+233del	ATP6V0D2	Deletion (intron variant)	not provided	GBenign
Select item 1240691	NM_152565.1(ATP6V0D2):c.130+31G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239267	NM_152565.1(ATP6V0D2):c.207_208del	ATP6V0D2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1237956	NM_152565.1(ATP6V0D2):c.302+270del	ATP6V0D2	Deletion (intron variant)	not provided	GBenign
Select item 1237738	NM_152565.1(ATP6V0D2):c.816+273G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235201	NM_152565.1(ATP6V0D2):c.814G>A (p.Gly272Arg)	ATP6V0D2 (G272R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1231250	NM_152565.1(ATP6V0D2):c.640-243T>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225134	NM_152565.1(ATP6V0D2):c.817-240T>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224550	NM_152565.1(ATP6V0D2):c.891+215_891+218del	ATP6V0D2	Microsatellite (intron variant)	not provided	GBenign
Select item 1222534	NM_152565.1(ATP6V0D2):c.131-310G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183805	NM_152565.1(ATP6V0D2):c.816+277G>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177798	NM_152565.1(ATP6V0D2):c.892-159T>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720814	NM_152565.1(ATP6V0D2):c.891+1G>T	ATP6V0D2	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 715011	NM_152565.1(ATP6V0D2):c.918C>A (p.Asn306Lys)	ATP6V0D2 (N306K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715010	NM_152565.1(ATP6V0D2):c.864A>C (p.Thr288=)	ATP6V0D2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685054	GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1	ATP6V0D2, CA1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563483	GRCh37/hg19 8q21.2-21.3(chr8:86778228-87120651)x3	ATP6V0D2, PSKH2	Copy number gain	not provided	GLikely benign
Select item 547156	GRCh37/hg19 8q21.3(chr8:87153679-87300640)x3	ATP6V0D2, SLC7A13	Copy number gain	not provided	GLikely benign
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 155142	GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3	ATP6V0D2, LOC105375623 +10 more	Copy number gain	See cases	GUncertain significance
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic

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