ClinVar for Gene (Select 80149) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2619111	NM_025079.3(ZC3H12A):c.1027C>T (p.Leu343Phe)	ZC3H12A (L343F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592816	NM_025079.3(ZC3H12A):c.1033C>T (p.Pro345Ser)	ZC3H12A (P345S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569096	NM_025079.3(ZC3H12A):c.367C>T (p.Pro123Ser)	ZC3H12A (P123S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557354	NM_025079.3(ZC3H12A):c.265G>A (p.Gly89Arg)	ZC3H12A (G89R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556743	NM_025079.3(ZC3H12A):c.572T>G (p.Val191Gly)	LOC112577589, ZC3H12A (V191G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552326	NM_025079.3(ZC3H12A):c.853G>A (p.Gly285Arg)	ZC3H12A (G11R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521210	NM_025079.3(ZC3H12A):c.1699C>T (p.His567Tyr)	ZC3H12A (H293Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477808	NM_025079.3(ZC3H12A):c.1786C>G (p.His596Asp)	ZC3H12A (H596D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405996	NM_025079.3(ZC3H12A):c.400G>A (p.Asp134Asn)	ZC3H12A (D134N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379831	NM_025079.3(ZC3H12A):c.598C>T (p.Arg200Trp)	ZC3H12A (R200W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2348698	NM_025079.3(ZC3H12A):c.571G>A (p.Val191Met)	LOC112577589, ZC3H12A (V191M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316272	NM_025079.3(ZC3H12A):c.701A>G (p.Tyr234Cys)	ZC3H12A (Y234C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312130	NM_025079.3(ZC3H12A):c.1595C>T (p.Pro532Leu)	ZC3H12A (P258L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300347	NM_025079.3(ZC3H12A):c.788G>A (p.Arg263Gln)	ZC3H12A (R263Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266267	NM_025079.3(ZC3H12A):c.221T>C (p.Val74Ala)	ZC3H12A (V74A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255838	NM_025079.3(ZC3H12A):c.1784A>G (p.Gln595Arg)	ZC3H12A (Q321R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255357	NM_025079.3(ZC3H12A):c.473G>T (p.Arg158Leu)	LOC112577589, ZC3H12A (R158L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235559	NM_025079.3(ZC3H12A):c.1033C>G (p.Pro345Ala)	ZC3H12A (P71A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 784946	NM_025079.3(ZC3H12A):c.1524C>T (p.Ala508=)	ZC3H12A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784945	NM_025079.3(ZC3H12A):c.299C>T (p.Pro100Leu)	ZC3H12A (P100L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 709686	NM_025079.3(ZC3H12A):c.718G>A (p.Val240Met)	ZC3H12A (V240M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	C1orf109, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30