Related gene-specific medical variations for Gene (Select 11094) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262668	NM_017586.5(CACFD1):c.494C>T (p.Ala165Val)	CACFD1, LOC130002915 (A123V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136275	NM_017586.5(CACFD1):c.508G>C (p.Gly170Arg)	CACFD1, LOC130002915 (G170R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618348	NM_017586.5(CACFD1):c.*12C>T	CACFD1, LOC130002915 (A177V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270756	NM_017586.5(CACFD1):c.*45G>A	CACFD1, LOC130002915 (C230Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2239525	NM_017586.5(CACFD1):c.507G>C (p.Glu169Asp)	CACFD1, LOC130002915 (R169T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212432	NM_017586.5(CACFD1):c.492C>T (p.Leu164=)	CACFD1, LOC130002915 (S164L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance

ClinVar