18264[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 3131912	NM_001039362.2(ATP6V1C2):c.44A>G (p.Asn15Ser)	ATP6V1C2 (N15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372440	NM_001039362.2(ATP6V1C2):c.90C>A (p.Asn30Lys)	ATP6V1C2 (N30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487985	NM_001039362.2(ATP6V1C2):c.103A>G (p.Thr35Ala)	ATP6V1C2 (T35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409508	NM_001039362.2(ATP6V1C2):c.106A>C (p.Lys36Gln)	ATP6V1C2 (K36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767784	NM_001039362.2(ATP6V1C2):c.156C>T (p.Gly52=)	ATP6V1C2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2556052	NM_001039362.2(ATP6V1C2):c.321C>G (p.Asp107Glu)	ATP6V1C2 (D117E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349778	NM_001039362.2(ATP6V1C2):c.386C>T (p.Ala129Val)	ATP6V1C2 (A129V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2348655	NM_001039362.2(ATP6V1C2):c.395A>G (p.Glu132Gly)	ATP6V1C2 (E132G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344706	NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr)	ATP6V1C2 (I168T)	Single nucleotide variant (missense variant)	Distal renal tubular acidosis	GLikely pathogenic
Select item 3329561	NM_001039362.2(ATP6V1C2):c.523G>A (p.Val175Met)	ATP6V1C2 (V175M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525183	NM_001039362.2(ATP6V1C2):c.562G>A (p.Val188Ile)	ATP6V1C2 (V188I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785958	NM_001039362.2(ATP6V1C2):c.570-4G>A	ATP6V1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2308010	NM_001039362.2(ATP6V1C2):c.603A>C (p.Glu201Asp)	ATP6V1C2 (E211D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352201	NM_001039362.2(ATP6V1C2):c.773A>T (p.Glu258Val)	ATP6V1C2 (E258V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235674	NM_001039362.2(ATP6V1C2):c.792G>A (p.Met264Ile)	ATP6V1C2 (M264I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91925	NM_001039362.2(ATP6V1C2):c.847A>G (p.Lys283Glu)	ATP6V1C2 (K283E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3131913	NM_001039362.2(ATP6V1C2):c.878A>G (p.Lys293Arg)	ATP6V1C2 (K293R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618168	NM_001039362.2(ATP6V1C2):c.893C>T (p.Pro298Leu)	ATP6V1C2 (P308L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131914	NM_001039362.2(ATP6V1C2):c.944A>T (p.Glu315Val)	ATP6V1C2 (E315V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329551	NM_001039362.2(ATP6V1C2):c.948T>A (p.Ser316Arg)	ATP6V1C2 (S316R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248564	NM_001039362.2(ATP6V1C2):c.971T>G (p.Leu324Arg)	ATP6V1C2 (L334R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410345	NM_001039362.2(ATP6V1C2):c.1054G>A (p.Val352Met)	ATP6V1C2 (V306M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238085	NM_001039362.2(ATP6V1C2):c.1057C>T (p.Leu353Phe)	ATP6V1C2 (L307F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650679	NM_001039362.2(ATP6V1C2):c.1061+4C>T	ATP6V1C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2273668	NM_001039362.2(ATP6V1C2):c.1081T>C (p.Phe361Leu)	ATP6V1C2 (F361L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392414	NM_001039362.2(ATP6V1C2):c.1103C>T (p.Pro368Leu)	ATP6V1C2 (P368L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549769	NM_001039362.2(ATP6V1C2):c.1106A>G (p.His369Arg)	ATP6V1C2 (H369R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131911	NM_001039362.2(ATP6V1C2):c.1261A>C (p.Ile421Leu)	ATP6V1C2 (I421L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377973	NM_005742.4(PDIA6):c.1229A>C (p.Glu410Ala)	ATP6V1C2, PDIA6 (E415A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210930	NM_005742.4(PDIA6):c.1219G>A (p.Val407Ile)	ATP6V1C2, PDIA6 (V407I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559827	NM_005742.4(PDIA6):c.1219G>C (p.Val407Leu)	ATP6V1C2, PDIA6 (V404L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409877	NM_005742.4(PDIA6):c.1198G>C (p.Gly400Arg)	ATP6V1C2, PDIA6 (G452R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808002	GRCh37/hg19 2p25.1(chr2:10562411-10918922)x3	ATP6V1C2, HPCAL1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 974747	NC_000002.11:g.10664398_10914786dup	ATP6V1C2, NOL10	Duplication	Megacolon	GUncertain significance
Select item 814218	GRCh37/hg19 2p25.1(chr2:10668077-10958258)x3	ATP6V1C2, NOL10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689169	GRCh37/hg19 2p25.1(chr2:10479046-11113701)x3	ATP6V1C2, HPCAL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562578	GRCh37/hg19 2p25.1(chr2:10590176-10957034)x3	ATP6V1C2, NOL10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 57