Related gene-specific medical variations for Gene (Select 54504) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076952	NM_031311.5(CPVL):c.1423G>T (p.Val475Phe)	CPVL, CPVL-AS2 (V489F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051277	NM_001398427.1(CHN2):c.-442T>C	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 3041465	NM_004067.4(CHN2):c.-6G>A	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 3040110	NM_001398427.1(CHN2):c.-646G>A	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GBenign
Select item 3039915	NM_001398427.1(CHN2):c.-501-8C>T	CHN2, CPVL	Single nucleotide variant (intron variant)	CHN2-related disorder	GBenign
Select item 3035343	NM_001398427.1(CHN2):c.-511T>G	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GBenign
Select item 3029181	NM_001398427.1(CHN2):c.-601C>T	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 2553513	NM_004067.4(CHN2):c.17A>C (p.Asn6Thr)	CHN2, CPVL (N6T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 733777	NM_031311.5(CPVL):c.1391G>A (p.Arg464Gln)	CPVL, CPVL-AS2 (R286Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar