CAPNS1[gene] and "single gene"[properties] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2609347	NM_001749.4(CAPNS1):c.47G>C (p.Gly16Ala)	CAPNS1 (G16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307916	NM_001749.4(CAPNS1):c.65G>T (p.Gly22Val)	CAPNS1 (G22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341606	NM_001749.4(CAPNS1):c.89G>A (p.Gly30Glu)	CAPNS1 (G30E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649765	NM_001749.4(CAPNS1):c.135C>A (p.Gly45=)	CAPNS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2272245	NM_001749.4(CAPNS1):c.160G>T (p.Gly54Cys)	CAPNS1 (G54C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377111	NM_001749.4(CAPNS1):c.164G>A (p.Gly55Asp)	CAPNS1 (G55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483150	NM_001749.4(CAPNS1):c.199A>G (p.Ser67Gly)	CAPNS1 (S67G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3066189	NM_001749.4(CAPNS1):c.210-2A>G	CAPNS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, primary, 6	GPathogenic
Select item 2362348	NM_001749.4(CAPNS1):c.304C>T (p.Arg102Trp)	CAPNS1 (R102W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256162	NM_001749.4(CAPNS1):c.305G>A (p.Arg102Gln)	CAPNS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360951	NM_001749.4(CAPNS1):c.329G>C (p.Gly110Ala)	CAPNS1 (G110A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214759	NM_001749.4(CAPNS1):c.433C>T (p.Arg145Cys)	CAPNS1 (R145C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137207	NM_001749.4(CAPNS1):c.543C>A (p.Phe181Leu)	CAPNS1 (F69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137208	NM_001749.4(CAPNS1):c.565A>T (p.Ile189Phe)	CAPNS1 (I77F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611134	NM_001749.4(CAPNS1):c.625C>T (p.Leu209Phe)	CAPNS1 (L209F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607276	NM_001749.4(CAPNS1):c.629A>G (p.Tyr210Cys)	CAPNS1 (Y210C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024742	NM_001749.4(CAPNS1):c.711C>T (p.Asp237=)	CAPNS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341710	NM_001749.4(CAPNS1):c.712G>A (p.Ala238Thr)	CAPNS1 (A238T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066188	NM_001749.4(CAPNS1):c.721+1G>A	CAPNS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 6	GPathogenic
Select item 2277797	NM_001749.4(CAPNS1):c.743A>G (p.Lys248Arg)	CAPNS1 (K248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20