"ISCA Site 6"[submitter] AND "SKA1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 393867	GRCh37/hg19 18q21.1(chr18:47902251-47917573)x3	SKA1	Copy number gain	See cases	GUncertain significance

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