Related gene-specific medical variations for Gene (Select 148113) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614551	NM_153221.2(CILP2):c.563C>A (p.Ala188Glu)	CILP2, LOC112543473 (A188E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526456	NM_153221.2(CILP2):c.547G>T (p.Gly183Trp)	CILP2, LOC112543473 (G183W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 395341	GRCh37/hg19 19p13.11(chr19:19651060-19657440)x3	CILP2	Copy number gain	See cases	GLikely benign

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