CAPZB[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137272	NM_004930.5(CAPZB):c.731+1568G>A	CAPZB (R269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137271	NM_004930.5(CAPZB):c.731+1520A>G	CAPZB (Q253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596491	NM_004930.5(CAPZB):c.731+1496C>G	CAPZB (S245C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638431	NM_004930.5(CAPZB):c.492C>T (p.Thr164=)	CAPZB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3137270	NM_004930.5(CAPZB):c.491C>T (p.Thr164Ile)	CAPZB (T190I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335101	NM_004930.5(CAPZB):c.320A>G (p.Tyr107Cys)	CAPZB (Y133C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638432	NM_004930.5(CAPZB):c.93+4C>T	CAPZB	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar