ClinVar for Gene (Select 284546) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685804	GRCh37/hg19 1p32.3(chr1:51284375-51569360)x3	C1orf185, CDKN2C +1 more	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2250579	NM_001136508.2(C1orf185):c.112T>A (p.Cys38Ser)	C1orf185 (C38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236574	NM_001136508.2(C1orf185):c.311C>A (p.Ser104Tyr)	C1orf185 (S104Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234450	NM_001136508.2(C1orf185):c.514G>C (p.Glu172Gln)	C1orf185 (E172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 1808388	GRCh37/hg19 1p32.3(chr1:51583541-51724739)x1	C1orf185, RNF11	Copy number loss	not provided	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 814081	GRCh37/hg19 1p32.3(chr1:51148897-51573845)x3	C1orf185, CDKN2C +1 more	Copy number gain	not provided	GUncertain significance
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 153324	GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3	AGBL4, C1orf185 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57108	GRCh38/hg38 1p32.3(chr1:50462649-51149312)x3	C1orf185, CDKN2C +25 more	Copy number gain	See cases	GUncertain significance