ClinVar for Gene (Select 87178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308207	NM_033109.5(PNPT1):c.1762A>T (p.Ile588Phe)	PNPT1 (I588F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308206	NM_033109.5(PNPT1):c.1871G>A (p.Gly624Asp)	PNPT1 (G624D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252580	NM_033109.5(PNPT1):c.2351G>T (p.Ter784Leu)	PNPT1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3252514	NM_033109.5(PNPT1):c.1520C>G (p.Ala507Gly)	PNPT1 (A507G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3247575	NC_000002.11:g.(?_55870273)_(55883526_?)del	PNPT1	Deletion	not provided	GPathogenic
Select item 3247477	NC_000002.11:g.(?_55863372)_(56149575_?)dup	EFEMP1, PNPT1	Duplication	not provided	GUncertain significance
Select item 3247475	NC_000002.11:g.(?_55887272)_(56149575_?)del	EFEMP1, PNPT1	Deletion	not provided	GUncertain significance
Select item 3233882	NM_033109.5(PNPT1):c.1002T>G (p.Tyr334Ter)	PNPT1 (Y334*)	Single nucleotide variant (nonsense)	PNPT1-related disorder +1 more	GPathogenic
Select item 3220865	NM_033109.5(PNPT1):c.162-2A>C	PNPT1	Single nucleotide variant (splice acceptor variant)	Spinocerebellar ataxia type 25	GLikely pathogenic
Select item 3216132	NM_033109.5(PNPT1):c.94C>G (p.Gln32Glu)	LOC129933770, PNPT1 (Q32E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216131	NM_033109.5(PNPT1):c.860C>T (p.Thr287Ile)	PNPT1 (T287I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216130	NM_033109.5(PNPT1):c.733A>G (p.Ile245Val)	PNPT1 (I245V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216128	NM_033109.5(PNPT1):c.1834G>C (p.Val612Leu)	PNPT1 (V612L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068270	NM_033109.5(PNPT1):c.1284+4A>C	PNPT1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 13	GLikely pathogenic
Select item 3067763	NM_033109.5(PNPT1):c.1293T>G (p.Pro431=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065131	NM_033109.5(PNPT1):c.1823-6T>A	PNPT1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 13	GUncertain significance
Select item 3061186	NM_033109.5(PNPT1):c.46del (p.Pro15_Leu16insTer)	LOC129933770, PNPT1	Deletion (nonsense)	PNPT1-related disorder	GUncertain significance
Select item 3047217	NM_033109.5(PNPT1):c.15G>A (p.Arg5=)	LOC129933771, PNPT1	Single nucleotide variant (synonymous variant)	PNPT1-related disorder	GLikely benign
Select item 3019467	NM_033109.5(PNPT1):c.2014-4dup	PNPT1	Duplication (intron variant)	not provided	GLikely benign
Select item 3006635	NM_033109.5(PNPT1):c.403+10T>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000760	NM_033109.5(PNPT1):c.2014-2A>G	PNPT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3000683	NM_033109.5(PNPT1):c.977-7dup	PNPT1	Duplication (intron variant)	not provided	GBenign
Select item 2990769	NM_033109.5(PNPT1):c.404-19T>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985767	NM_033109.5(PNPT1):c.237A>C (p.Ala79=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977751	NM_033109.5(PNPT1):c.420G>A (p.Pro140=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973866	NM_033109.5(PNPT1):c.298-14del	PNPT1	Deletion (intron variant)	not provided	GBenign
Select item 2972911	NM_033109.5(PNPT1):c.1285-14T>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972282	NM_033109.5(PNPT1):c.1823-16C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969248	NM_033109.5(PNPT1):c.1441+20_1441+21del	PNPT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2965689	NM_033109.5(PNPT1):c.918+19dup	PNPT1	Duplication (intron variant)	not provided	GBenign
Select item 2960330	NM_033109.5(PNPT1):c.976+1G>T	PNPT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2960121	NM_033109.5(PNPT1):c.977-13C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957689	NM_033109.5(PNPT1):c.403+14A>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915758	NM_033109.5(PNPT1):c.1692T>G (p.Pro564=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901697	NM_033109.5(PNPT1):c.1907-6T>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895740	NM_033109.5(PNPT1):c.840G>A (p.Ser280=)	PNPT1	Single nucleotide variant (synonymous variant)	PNPT1-related disorder +1 more	GLikely benign
Select item 2881400	NM_033109.5(PNPT1):c.1906+14G>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879213	NM_033109.5(PNPT1):c.2070-15T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878885	NM_033109.5(PNPT1):c.213T>C (p.Ala71=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872434	NM_033109.5(PNPT1):c.2334A>G (p.Ser778=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872217	NM_033109.5(PNPT1):c.1173A>G (p.Thr391=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871660	NM_033109.5(PNPT1):c.1351+17A>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871056	NM_033109.5(PNPT1):c.2149-5T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862046	NM_033109.5(PNPT1):c.937G>A (p.Val313Ile)	PNPT1 (V313I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858900	NM_033109.5(PNPT1):c.161+16C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858332	NM_033109.5(PNPT1):c.1982G>C (p.Arg661Thr)	PNPT1 (R661T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856202	NM_033109.5(PNPT1):c.866+2T>C	PNPT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2853910	NM_033109.5(PNPT1):c.234T>G (p.Thr78=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853620	NM_033109.5(PNPT1):c.1822+7C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852090	NM_033109.5(PNPT1):c.2148+14T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845812	NM_033109.5(PNPT1):c.1465T>C (p.Cys489Arg)	PNPT1 (C489R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844783	NM_033109.5(PNPT1):c.2301T>C (p.Ser767=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844422	NM_033109.5(PNPT1):c.2136T>C (p.Leu712=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836084	NM_033109.5(PNPT1):c.1012G>T (p.Glu338Ter)	PNPT1 (E338*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2835976	NM_033109.5(PNPT1):c.918+10C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829925	NM_033109.5(PNPT1):c.585A>T (p.Ile195=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828211	NM_033109.5(PNPT1):c.1823-1G>A	PNPT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2826377	NM_033109.5(PNPT1):c.2131C>T (p.Gln711Ter)	PNPT1 (Q711*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2825203	NM_033109.5(PNPT1):c.1177-15C>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824169	NM_033109.5(PNPT1):c.2013+19A>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814579	NM_033109.5(PNPT1):c.161+10G>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813242	NM_033109.5(PNPT1):c.1441+11G>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810284	NM_033109.5(PNPT1):c.1839A>G (p.Pro613=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805003	NM_033109.5(PNPT1):c.1180del (p.Leu394fs)	PNPT1 (L394fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2802644	NM_033109.5(PNPT1):c.2133A>G (p.Gln711=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798579	NM_033109.5(PNPT1):c.2014-9C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796371	NM_033109.5(PNPT1):c.223-13C>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789783	NM_033109.5(PNPT1):c.1603-18C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785338	NM_033109.5(PNPT1):c.756C>A (p.Thr252=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784305	NM_033109.5(PNPT1):c.9C>T (p.Ala3=)	LOC129933771, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782714	NM_033109.5(PNPT1):c.1605A>C (p.Gly535=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782385	NM_033109.5(PNPT1):c.1875C>T (p.Gly625=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779833	NM_033109.5(PNPT1):c.1675-15del	PNPT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2772194	NM_033109.5(PNPT1):c.1512T>C (p.Ser504=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771801	NM_033109.5(PNPT1):c.1823-15T>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770698	NM_033109.5(PNPT1):c.1442-19G>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769743	NM_033109.5(PNPT1):c.1441+20C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767698	NM_033109.5(PNPT1):c.403+14A>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759464	NM_033109.5(PNPT1):c.1285-13T>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755797	NM_033109.5(PNPT1):c.2013+13C>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754984	NM_033109.5(PNPT1):c.1027G>A (p.Val343Ile)	PNPT1 (V343I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753860	NM_033109.5(PNPT1):c.919-9T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749654	NM_033109.5(PNPT1):c.1907-19dup	PNPT1	Duplication (intron variant)	not provided	GLikely benign
Select item 2748410	NM_033109.5(PNPT1):c.1956A>G (p.Pro652=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744553	NM_033109.5(PNPT1):c.2014-4A>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716597	NM_033109.5(PNPT1):c.1674+1G>A	PNPT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2709530	NM_033109.5(PNPT1):c.1733C>T (p.Ala578Val)	PNPT1 (A578V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709337	NM_033109.5(PNPT1):c.679+12T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698275	NM_033109.5(PNPT1):c.1675-5A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689803	NM_033109.5(PNPT1):c.1252A>T (p.Ile418Leu)	PNPT1 (I418L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689802	NM_033109.5(PNPT1):c.232A>G (p.Thr78Ala)	PNPT1 (T78A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2687785	NM_033109.5(PNPT1):c.1528G>A (p.Ala510Thr)	PNPT1 (A510T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GUncertain significance
Select item 2663712	NM_033109.5(PNPT1):c.2259G>T (p.Gln753His)	PNPT1 (Q753H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663494	NM_033109.5(PNPT1):c.1141C>T (p.His381Tyr)	PNPT1 (H381Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650953	NM_033109.5(PNPT1):c.5C>T (p.Ala2Val)	LOC129933771, PNPT1 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650952	NM_033109.5(PNPT1):c.830T>C (p.Phe277Ser)	PNPT1 (F277S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650951	NM_033109.5(PNPT1):c.919-7C>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2650950	NM_033109.5(PNPT1):c.1078G>A (p.Asp360Asn)	PNPT1 (D360N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650949	NM_033109.5(PNPT1):c.1142A>G (p.His381Arg)	PNPT1 (H381R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650948	NM_033109.5(PNPT1):c.1297G>A (p.Ala433Thr)	PNPT1 (A433T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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