ClinVar for Gene (Select 105371115) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 791060	NM_153208.3(IQCK):c.574A>C (p.Ile192Leu)	IQCK, LOC105371115 (I192L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic

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