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

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2594517	NM_031311.5(CPVL):c.1259A>C (p.Lys420Thr)	CPVL (K420T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462599	NM_031311.5(CPVL):c.1246A>G (p.Lys416Glu)	CPVL (K430E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076951	NM_031311.5(CPVL):c.1217A>G (p.Lys406Arg)	CPVL (K336R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076950	NM_031311.5(CPVL):c.1171G>A (p.Val391Met)	CPVL (V213M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258068	NM_031311.5(CPVL):c.1111T>G (p.Leu371Val)	CPVL (L301V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615297	NM_031311.5(CPVL):c.1087A>G (p.Thr363Ala)	CPVL (T293A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482695	NM_031311.5(CPVL):c.1063G>C (p.Val355Leu)	CPVL (V285L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602334	NM_031311.5(CPVL):c.967C>T (p.Pro323Ser)	CPVL (P337S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076959	NM_031311.5(CPVL):c.937A>C (p.Asn313His)	CPVL (N243H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076957	NM_031311.5(CPVL):c.701C>T (p.Ala234Val)	CPVL (A248V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622375	NM_031311.5(CPVL):c.607G>C (p.Glu203Gln)	CPVL (E133Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076956	NM_031311.5(CPVL):c.512A>C (p.Asn171Thr)	CPVL (N101T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464698	NM_031311.5(CPVL):c.499G>A (p.Gly167Arg)	CPVL (G107R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598389	NM_031311.5(CPVL):c.444G>A (p.Met148Ile)	CPVL (M148I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407369	NM_031311.5(CPVL):c.407G>A (p.Arg136His)	CPVL (R136H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267377	NM_031311.5(CPVL):c.399G>C (p.Met133Ile)	CPVL (M133I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076955	NM_031311.5(CPVL):c.335C>T (p.Pro112Leu)	CPVL (P112L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250279	NM_031311.5(CPVL):c.302A>T (p.Asp101Val)	CPVL (D101V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454564	NM_031311.5(CPVL):c.226G>A (p.Gly76Ser)	CPVL (G6S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076954	NM_031311.5(CPVL):c.197T>C (p.Phe66Ser)	CPVL (F66S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076953	NM_031311.5(CPVL):c.146T>C (p.Ile49Thr)	CPVL (I49T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076958	NM_031311.5(CPVL):c.85A>G (p.Arg29Gly)	CPVL (R29G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325627	NM_031311.5(CPVL):c.56C>T (p.Pro19Leu)	CPVL (P19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540905	NM_031311.5(CPVL):c.35T>C (p.Leu12Pro)	CPVL (L12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620639	NM_031311.5(CPVL):c.19A>C (p.Lys7Gln)	CPVL (K7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713575	NM_031311.5(CPVL):c.14T>C (p.Met5Thr)	CPVL (M5T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2250085	NM_031311.5(CPVL):c.8G>A (p.Gly3Asp)	CPVL (G3D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 27