ClinVar for Gene (Select 129930508) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 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

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