ClinVar for Gene (Select 126661) - ClinVar

	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 684370	NM_015506.2(MMACHC):c.-302G>T	CCDC163, MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 57754	GRCh38/hg38 1p34.1(chr1:45402871-45603348)x3	AKR1A1, CCDC163 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance

ClinVar