ClinVar for Gene (Select 85318) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 625662	GRCh37/hg19 21p11.1-q21.2(chr21:10944001-25730963)	HSPA13, SAMSN1 +17 more	Copy number gain	not provided	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 147652	GRCh38/hg38 21p11.2(chr21:10416371-10521065)x3	BAGE2, BAGE3 +1 more	Copy number gain	See cases	GBenign
Select item 147215	GRCh38/hg38 21p11.2(chr21:10465006-10613466)x1	BAGE2, BAGE3 +1 more	Copy number loss	See cases	GBenign
Select item 147178	GRCh38/hg38 21p11.2(chr21:10478754-10648241)x1	BAGE2, BAGE3 +1 more	Copy number loss	See cases	GBenign
Select item 147121	GRCh38/hg38 21p11.2(chr21:10336174-10597374)x1	BAGE2, BAGE3 +3 more	Copy number loss	See cases	GBenign
Select item 146900	GRCh37/hg19 21p11.1-q11.2(chr21:10991392-14417582)x3	BAGE2, BAGE3	Copy number gain	See cases	GBenign
Select item 58981	GRCh37/hg19 21p11.1-q11.2(chr21:10953431-15707444)x1	BAGE2, BAGE3 +4 more	Copy number loss	See cases	GPathogenic