ClinVar for Gene (Select 4860) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340502	NM_000270.4(PNP):c.41_44dup (p.Glu15fs)	PNP (E15fs)	Duplication (frameshift variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 3308165	NM_000270.4(PNP):c.229G>A (p.Ala77Thr)	PNP (A77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308164	NM_000270.4(PNP):c.644A>C (p.Asp215Ala)	PNP (D215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308163	NM_000270.4(PNP):c.558G>C (p.Glu186Asp)	PNP (E186D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3064932	NM_000270.4(PNP):c.83C>T (p.Ala28Val)	PNP (A28V)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 3023072	NM_000270.4(PNP):c.513del (p.Arg171fs)	PNP (R171fs)	Deletion (frameshift variant)	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 3018851	NM_000270.4(PNP):c.199C>A (p.Arg67=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2972408	NM_000270.4(PNP):c.453T>C (p.Asn151=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2971642	NM_000270.4(PNP):c.653-15C>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2913484	NM_000270.4(PNP):c.523C>G (p.Leu175Val)	PNP (L175V)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2913219	NM_000270.4(PNP):c.200G>A (p.Arg67Gln)	PNP (R67Q)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2906818	NM_000270.4(PNP):c.461+9G>C	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2901877	NM_000270.4(PNP):c.182-10T>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2896769	NM_000270.4(PNP):c.531C>T (p.Thr177=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2885035	NM_000270.4(PNP):c.181+17G>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2862345	NM_000270.4(PNP):c.11+2T>A	PNP	Single nucleotide variant (splice donor variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 2851192	NM_000270.4(PNP):c.54G>A (p.Leu18=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2847200	NM_000270.4(PNP):c.762G>A (p.Lys254=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2844130	NM_000270.4(PNP):c.632_644dup (p.Asp215fs)	PNP (D215fs)	Duplication (frameshift variant)	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2841356	NM_000270.4(PNP):c.461+10T>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2830032	NM_000270.4(PNP):c.182-6A>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2813824	NM_000270.4(PNP):c.207G>C (p.Val69=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2808800	NM_000270.4(PNP):c.684A>T (p.Ala228=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2803251	NM_000270.4(PNP):c.780C>A (p.Val260=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2776066	NM_000270.4(PNP):c.11+17_11+25del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2771821	NM_000270.4(PNP):c.11+18C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2743855	NM_000270.4(PNP):c.12-3del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GBenign
Select item 2736067	NM_000270.4(PNP):c.569G>T (p.Gly190Val)	PNP (G190V)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 2735446	NM_000270.4(PNP):c.801T>G (p.Ala267=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2719736	NM_000270.4(PNP):c.819G>A (p.Gln273=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2696238	NM_000270.4(PNP):c.705C>G (p.Val235=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2688242	NM_000270.4(PNP):c.652+93T>A	PNP	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2683245	NM_000270.4(PNP):c.841A>G (p.Ser281Gly)	PNP (S281G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2603307	NM_000270.4(PNP):c.551A>G (p.Gln184Arg)	PNP (Q184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506956	NM_000270.4(PNP):c.728A>G (p.Asn243Ser)	PNP (N243S)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2500721	NM_000270.4(PNP):c.97T>C (p.Ser33Pro)	PNP (S33P)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 2443221	NM_000270.4(PNP):c.331del (p.Leu111fs)	PNP (L111fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2425415	NM_000270.4(PNP):c.12-8T>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2415849	NM_000270.4(PNP):c.285+8del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2180775	NM_000270.4(PNP):c.181+16A>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2178845	NM_000270.4(PNP):c.182-2A>G	PNP	Single nucleotide variant (splice acceptor variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 2168338	NM_000270.4(PNP):c.295C>T (p.Pro99Ser)	PNP (P99S)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2164912	NM_000270.4(PNP):c.182-17_182-14del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2163413	NM_000270.4(PNP):c.406dup (p.Ile136fs)	PNP (I136fs)	Duplication (frameshift variant)	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2162851	NM_000270.4(PNP):c.502C>T (p.Arg168Trp)	PNP (R168W)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2160364	NM_000270.4(PNP):c.164A>G (p.Asn55Ser)	PNP (N55S)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2154086	NM_000270.4(PNP):c.11+11C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2139972	NM_000270.4(PNP):c.36C>T (p.Asn12=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2137547	NM_000270.4(PNP):c.387_389del (p.Ile129del)	PNP (I129del)	Deletion (inframe_deletion)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 2129089	NM_000270.4(PNP):c.179C>T (p.Thr60Ile)	PNP (T60I)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2126912	NM_000270.4(PNP):c.743A>G (p.Asp248Gly)	PNP (D248G)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2125991	NM_000270.4(PNP):c.344A>G (p.Asn115Ser)	PNP (N115S)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2122607	NM_000270.4(PNP):c.315T>G (p.Leu105=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2108493	NM_000270.4(PNP):c.279C>G (p.Leu93=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2106408	NM_000270.4(PNP):c.462-4C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2092670	NM_000270.4(PNP):c.15C>T (p.Tyr5=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2071486	NM_000270.4(PNP):c.370T>C (p.Phe124Leu)	PNP (F124L)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2034934	NM_000270.4(PNP):c.286-4G>C	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2006146	NM_000270.4(PNP):c.736A>G (p.Ile246Val)	PNP (I246V)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2005823	NM_000270.4(PNP):c.386T>C (p.Ile129Thr)	PNP (I129T)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1998104	NM_000270.4(PNP):c.182-19C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1998094	NM_000270.4(PNP):c.464T>C (p.Phe155Ser)	PNP (F155S)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1979190	NM_000270.4(PNP):c.756G>A (p.Leu252=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1969691	NM_000270.4(PNP):c.461+18T>C	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1960580	NM_000270.4(PNP):c.396C>A (p.Ile132=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1953852	NM_000270.4(PNP):c.461+25del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GBenign
Select item 1950302	NM_000270.4(PNP):c.79G>A (p.Val27Ile)	PNP (V27I)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1942995	NM_000270.4(PNP):c.150C>T (p.Tyr50=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1926676	NM_000270.4(PNP):c.87A>G (p.Ile29Met)	PNP (I29M)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1913327	NM_000270.4(PNP):c.180A>G (p.Thr60=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1902490	NM_000270.4(PNP):c.568G>A (p.Gly190Ser)	PNP (G190S)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1900513	NM_000270.4(PNP):c.652+5G>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1896734	NM_000270.4(PNP):c.11+15A>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1879267	NM_000270.4(PNP):c.746A>C (p.Tyr249Ser)	PNP (Y249S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879266	NM_000270.4(PNP):c.729C>G (p.Asn243Lys)	PNP (N243K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1804667	NM_000270.4(PNP):c.601G>T (p.Glu201Ter)	PNP (E201*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 1721615	NM_000270.4(PNP):c.242T>C (p.Met81Thr)	PNP (M81T)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1713407	NM_000270.4(PNP):c.836T>G (p.Met279Arg)	PNP (M279R)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1675532	NM_000270.4(PNP):c.391C>T (p.Leu131=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency +1 more	GLikely benign
Select item 1672667	NM_000270.4(PNP):c.12-10del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GBenign
Select item 1671958	NM_000270.4(PNP):c.286-19C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1666512	NM_000270.4(PNP):c.279C>T (p.Leu93=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1657869	NM_000270.4(PNP):c.181+8C>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1636231	NM_000270.4(PNP):c.461+16C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency +1 more	GBenign
Select item 1626722	NM_000270.4(PNP):c.286-18G>C	PNP	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1619771	NM_000270.4(PNP):c.153T>C (p.Gly51=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1619569	NM_000270.4(PNP):c.652+19C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1613299	NM_000270.4(PNP):c.834T>C (p.Leu278=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1609922	NM_000270.4(PNP):c.462-9G>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1609656	NM_000270.4(PNP):c.11+13C>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1609250	NM_000270.4(PNP):c.318G>T (p.Leu106=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1605187	NM_000270.4(PNP):c.264T>C (p.Tyr88=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1592157	NM_000270.4(PNP):c.412C>T (p.Leu138=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1586107	NM_000270.4(PNP):c.461+17G>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1585390	NM_000270.4(PNP):c.285+8A>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign

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