PVR[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041859	NM_006505.5(PVR):c.-1C>T	PVR	Single nucleotide variant (5 prime UTR variant)	PVR-related disorder	GBenign
Select item 3149889	NM_006505.5(PVR):c.56T>C (p.Leu19Pro)	PVR (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149891	NM_006505.5(PVR):c.88G>A (p.Val30Ile)	PVR (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149886	NM_006505.5(PVR):c.179A>G (p.His60Arg)	PVR (H60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056684	NM_006505.5(PVR):c.199G>A (p.Ala67Thr)	PVR (A67T)	Single nucleotide variant (missense variant)	PVR-related disorder	GBenign
Select item 2361955	NM_006505.5(PVR):c.206A>G (p.His69Arg)	PVR (H69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300924	NM_006505.5(PVR):c.206A>T (p.His69Leu)	PVR (H69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317507	NM_006505.5(PVR):c.229G>T (p.Val77Phe)	PVR (V77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046976	NM_006505.5(PVR):c.303G>A (p.Ala101=)	PVR	Single nucleotide variant (synonymous variant)	PVR-related disorder	GLikely benign
Select item 3149888	NM_006505.5(PVR):c.343G>C (p.Val115Leu)	PVR (V115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038290	NM_006505.5(PVR):c.348G>A (p.Glu116=)	PVR	Single nucleotide variant (synonymous variant)	PVR-related disorder	GBenign
Select item 3311752	NM_006505.5(PVR):c.376G>A (p.Val126Ile)	PVR (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615810	NM_006505.5(PVR):c.479C>G (p.Pro160Arg)	PVR (P160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315599	NM_006505.5(PVR):c.489G>A (p.Met163Ile)	PVR (M163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048161	NM_006505.5(PVR):c.516C>T (p.Arg172=)	PVR	Single nucleotide variant (synonymous variant)	PVR-related disorder	GLikely benign
Select item 2366045	NM_006505.5(PVR):c.539A>G (p.His180Arg)	PVR (H180R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293390	NM_006505.5(PVR):c.553G>A (p.Gly185Arg)	PVR (G185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412224	NM_006505.5(PVR):c.566C>T (p.Thr189Met)	PVR (T189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149890	NM_006505.5(PVR):c.646G>A (p.Gly216Ser)	PVR (G216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527026	NM_006505.5(PVR):c.673C>G (p.His225Asp)	PVR (H225D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034003	NM_006505.5(PVR):c.676G>A (p.Glu226Lys)	PVR (E226K)	Single nucleotide variant (missense variant)	PVR-related disorder	GBenign
Select item 2301482	NM_006505.5(PVR):c.683T>C (p.Phe228Ser)	PVR (F228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739035	NM_006505.5(PVR):c.717C>T (p.Thr239=)	PVR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2287456	NM_006505.5(PVR):c.740C>T (p.Ser247Phe)	PVR (S247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311753	NM_006505.5(PVR):c.788C>T (p.Thr263Ile)	PVR (T263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038393	NM_006505.5(PVR):c.883G>A (p.Ala295Thr)	PVR (A295T)	Single nucleotide variant (missense variant)	PVR-related disorder	GBenign
Select item 2388308	NM_006505.5(PVR):c.899G>A (p.Arg300His)	PVR (R300H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2259774	NM_006505.5(PVR):c.929T>C (p.Leu310Ser)	PVR (L310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047000	NM_006505.5(PVR):c.933C>T (p.Ile311=)	PVR	Single nucleotide variant (synonymous variant)	PVR-related disorder	GLikely benign
Select item 3047102	NM_006505.5(PVR):c.947A>G (p.Asn316Ser)	PVR (N316S)	Single nucleotide variant (missense variant)	PVR-related disorder	GLikely benign
Select item 2403598	NM_006505.5(PVR):c.949G>A (p.Ala317Thr)	PVR (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403599	NM_006505.5(PVR):c.950C>T (p.Ala317Val)	PVR (A317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149892	NM_006505.5(PVR):c.952C>G (p.Leu318Val)	PVR (L318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056118	NM_006505.5(PVR):c.952C>T (p.Leu318=)	PVR	Single nucleotide variant (synonymous variant)	PVR-related disorder	GBenign
Select item 2367371	NM_006505.5(PVR):c.1005T>A (p.Ser335Arg)	PVR (S335R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149880	NM_006505.5(PVR):c.1025G>A (p.Arg342His)	PVR (R342H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370319	NM_006505.5(PVR):c.1115G>A (p.Arg372His)	PVR (R372H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149881	NM_006505.5(PVR):c.1162G>A (p.Ala388Thr)	PVR (A335T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527415	NM_006505.5(PVR):c.1168G>A (p.Ala390Thr)	PVR (A337T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149882	NM_006505.5(PVR):c.1180G>C (p.Gly394Arg)	PVR (G341R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149883	NM_006505.5(PVR):c.1204A>C (p.Ser402Arg)	PVR (S357R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149884	NM_006505.5(PVR):c.1205G>C (p.Ser402Thr)	PVR (S349T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149885	NM_006505.5(PVR):c.1240G>A (p.Glu414Lys)	PVR (E369K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 221352	chr19:44501518-45322744 complex variant	BCAM, BCL3 +22 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 52