ZC3H12C[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 2349852	NM_033390.2(ZC3H12C):c.13G>C (p.Gly5Arg)	LOC130006721, ZC3H12C (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192280	NM_033390.2(ZC3H12C):c.28G>A (p.Gly10Arg)	ZC3H12C (G10R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381241	NM_033390.2(ZC3H12C):c.82C>T (p.Arg28Cys)	ZC3H12C (R28C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205275	NM_033390.2(ZC3H12C):c.83G>A (p.Arg28His)	ZC3H12C (R29H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334029	NM_033390.2(ZC3H12C):c.89A>G (p.Asn30Ser)	ZC3H12C (N30S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594801	NM_033390.2(ZC3H12C):c.119A>G (p.His40Arg)	ZC3H12C (H41R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192270	NM_033390.2(ZC3H12C):c.127G>A (p.Gly43Ser)	ZC3H12C (G44S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312653	NM_033390.2(ZC3H12C):c.245A>G (p.Glu82Gly)	ZC3H12C (E82G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541932	NM_033390.2(ZC3H12C):c.274G>A (p.Glu92Lys)	ZC3H12C (E93K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192281	NM_033390.2(ZC3H12C):c.340A>G (p.Thr114Ala)	ZC3H12C (T114A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1199254	NM_033390.2(ZC3H12C):c.355C>G (p.Gln119Glu)	ZC3H12C (Q119E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3192282	NM_033390.2(ZC3H12C):c.377T>C (p.Leu126Ser)	ZC3H12C (L127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261843	NM_033390.2(ZC3H12C):c.380A>T (p.Glu127Val)	ZC3H12C (E127V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604093	NM_033390.2(ZC3H12C):c.382C>T (p.Pro128Ser)	ZC3H12C (P128S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611986	NM_033390.2(ZC3H12C):c.387C>G (p.His129Gln)	ZC3H12C (H129Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546106	NM_033390.2(ZC3H12C):c.398G>T (p.Arg133Leu)	ZC3H12C (R133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391153	NM_033390.2(ZC3H12C):c.445T>A (p.Ser149Thr)	ZC3H12C (S149T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379141	NM_033390.2(ZC3H12C):c.469G>A (p.Asp157Asn)	ZC3H12C (D157N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401993	NM_033390.2(ZC3H12C):c.479G>A (p.Arg160Gln)	ZC3H12C (R161Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546194	NM_033390.2(ZC3H12C):c.527A>G (p.Glu176Gly)	ZC3H12C (E176G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334031	NM_033390.2(ZC3H12C):c.535G>A (p.Val179Ile)	ZC3H12C (V179I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385915	NM_033390.2(ZC3H12C):c.712G>T (p.Val238Leu)	ZC3H12C (V238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382183	NM_033390.2(ZC3H12C):c.769A>G (p.Met257Val)	ZC3H12C (M257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320883	NM_033390.2(ZC3H12C):c.788A>C (p.Glu263Ala)	ZC3H12C (E263A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192283	NM_033390.2(ZC3H12C):c.929G>A (p.Arg310His)	ZC3H12C (R311H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320988	NM_033390.2(ZC3H12C):c.1006G>A (p.Asp336Asn)	ZC3H12C (D336N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406897	NM_033390.2(ZC3H12C):c.1146C>G (p.Asp382Glu)	ZC3H12C (D382E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192269	NM_033390.2(ZC3H12C):c.1253A>T (p.Tyr418Phe)	ZC3H12C (Y419F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192271	NM_033390.2(ZC3H12C):c.1361C>T (p.Thr454Met)	ZC3H12C (T454M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289886	NM_033390.2(ZC3H12C):c.1417A>G (p.Ser473Gly)	ZC3H12C (S474G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292317	NM_033390.2(ZC3H12C):c.1564G>A (p.Val522Ile)	ZC3H12C (V523I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306399	NM_033390.2(ZC3H12C):c.1622G>A (p.Gly541Asp)	ZC3H12C (G541D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192272	NM_033390.2(ZC3H12C):c.1684A>G (p.Met562Val)	ZC3H12C (M563V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330208	NM_033390.2(ZC3H12C):c.1756G>A (p.Asp586Asn)	ZC3H12C (D586N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601765	NM_033390.2(ZC3H12C):c.1766A>G (p.Tyr589Cys)	ZC3H12C (Y589C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313380	NM_033390.2(ZC3H12C):c.1937G>A (p.Arg646Gln)	ZC3H12C (R646Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192273	NM_033390.2(ZC3H12C):c.1960C>T (p.Pro654Ser)	ZC3H12C (P655S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192274	NM_033390.2(ZC3H12C):c.2024C>T (p.Pro675Leu)	ZC3H12C (P676L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192275	NM_033390.2(ZC3H12C):c.2076C>G (p.His692Gln)	ZC3H12C (H693Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346762	NM_033390.2(ZC3H12C):c.2197C>T (p.His733Tyr)	ZC3H12C (H733Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192276	NM_033390.2(ZC3H12C):c.2258A>C (p.Asp753Ala)	ZC3H12C (D754A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334030	NM_033390.2(ZC3H12C):c.2295A>C (p.Arg765Ser)	ZC3H12C (R765S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192277	NM_033390.2(ZC3H12C):c.2302T>A (p.Tyr768Asn)	ZC3H12C (Y769N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192278	NM_033390.2(ZC3H12C):c.2423C>T (p.Thr808Ile)	ZC3H12C (T808I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192279	NM_033390.2(ZC3H12C):c.2551C>A (p.Pro851Thr)	ZC3H12C (P852T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397416	NM_033390.2(ZC3H12C):c.2590A>G (p.Met864Val)	ZC3H12C (M864V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 442164	GRCh37/hg19 11q22.3(chr11:109558847-110079020)x3	RDX, ZC3H12C	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 61