ClinVar for Gene (Select 5091) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304524	NM_001040716.2(PC):c.3063G>C (p.Lys1021Asn)	PC (K1021N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3304523	NM_001040716.2(PC):c.2279G>A (p.Arg760Gln)	PC (R760Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291279	NM_024036.5(LRFN4):c.652C>T (p.Arg218Cys)	LRFN4, PC (R218C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291278	NM_024036.5(LRFN4):c.346C>T (p.Leu116Phe)	LRFN4, PC (L116F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291275	NM_024036.5(LRFN4):c.1200G>T (p.Glu400Asp)	LRFN4, PC (E400D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291274	NM_024036.5(LRFN4):c.796C>T (p.Arg266Cys)	LRFN4, PC (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291273	NM_024036.5(LRFN4):c.553C>T (p.Pro185Ser)	LRFN4, PC (P185S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291272	NM_024036.5(LRFN4):c.745G>C (p.Ala249Pro)	LRFN4, PC (A249P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291271	NM_024036.5(LRFN4):c.1558G>A (p.Val520Met)	LRFN4, PC (V520M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3252014	NM_001040716.2(PC):c.467G>C (p.Arg156Pro)	PC (R156P)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3252013	NM_001040716.2(PC):c.2699T>A (p.Met900Lys)	PC (M900K)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3244558	NC_000011.9:g.(?_66636306)_(66637666_?)del	PC	Deletion	Pyruvate carboxylase deficiency	GPathogenic
Select item 3240027	NM_001040716.2(PC):c.3247C>T (p.Gln1083Ter)	PC (Q1083*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3240026	NM_001040716.2(PC):c.1788del (p.His596fs)	PC (H596fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3240025	NM_001040716.2(PC):c.186del (p.Thr63fs)	PC (T63fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3240024	NM_001040716.2(PC):c.826G>T (p.Glu276Ter)	PC (E276*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3240023	NM_001040716.2(PC):c.2217_2222del (p.Cys739_Lys741delinsTrp)	PC	Deletion (inframe_indel)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3240022	NM_001040716.2(PC):c.2755C>T (p.Gln919Ter)	PC (Q919*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3240021	NM_001040716.2(PC):c.1712_1728del (p.Arg571fs)	PC (R571fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 3238779	NM_001040716.2(PC):c.3478G>A (p.Val1160Ile)	PC (V1160I)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 3209063	NM_001040716.2(PC):c.82A>G (p.Asn28Asp)	PC (N28D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209062	NM_001040716.2(PC):c.3352G>A (p.Gly1118Arg)	PC (G1118R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209061	NM_001040716.2(PC):c.2764G>A (p.Val922Met)	PC (V922M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209060	NM_001040716.2(PC):c.263G>A (p.Arg88His)	PC (R88H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209059	NM_001040716.2(PC):c.2547C>G (p.Asp849Glu)	PC (D849E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209058	NM_001040716.2(PC):c.2402T>C (p.Met801Thr)	PC (M801T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3209057	NM_001040716.2(PC):c.1060G>A (p.Gly354Ser)	PC (G354S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119965	NM_024036.5(LRFN4):c.919G>C (p.Asp307His)	LRFN4, PC (D307H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119964	NM_024036.5(LRFN4):c.740G>A (p.Arg247Gln)	LRFN4, PC (R247Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119963	NM_024036.5(LRFN4):c.664G>A (p.Ala222Thr)	LRFN4, PC (A222T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119962	NM_024036.5(LRFN4):c.644C>T (p.Ser215Phe)	LRFN4, PC (S215F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119961	NM_024036.5(LRFN4):c.629C>T (p.Pro210Leu)	LRFN4, PC (P210L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119960	NM_024036.5(LRFN4):c.509C>T (p.Ala170Val)	LRFN4, PC (A170V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119959	NM_024036.5(LRFN4):c.313G>A (p.Gly105Ser)	LRFN4, PC (G105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119958	NM_024036.5(LRFN4):c.1886G>A (p.Arg629Gln)	LRFN4, PC (R629Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119957	NM_024036.5(LRFN4):c.1820G>A (p.Arg607Gln)	LRFN4, PC (R607Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119956	NM_024036.5(LRFN4):c.1651C>G (p.Leu551Val)	LRFN4, PC (L551V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119955	NM_024036.5(LRFN4):c.1529A>C (p.Gln510Pro)	LRFN4, PC (Q510P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119954	NM_024036.5(LRFN4):c.1523C>T (p.Ala508Val)	LRFN4, PC (A508V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119953	NM_024036.5(LRFN4):c.1337C>T (p.Thr446Ile)	LRFN4, PC (T446I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119952	NM_024036.5(LRFN4):c.1246G>A (p.Ala416Thr)	LRFN4, PC (A416T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119950	NM_024036.5(LRFN4):c.1171G>A (p.Ala391Thr)	LRFN4, PC (A391T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3054180	NM_001040716.2(PC):c.2046C>T (p.Tyr682=)	PC	Single nucleotide variant (synonymous variant)	PC-related disorder	GLikely benign
Select item 3024051	NM_001040716.2(PC):c.634-17C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3023026	NM_001040716.2(PC):c.1497G>A (p.Lys499=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3022978	NM_001040716.2(PC):c.1514-15C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3021266	NM_001040716.2(PC):c.136+18del	PC	Deletion (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3020985	NM_001040716.2(PC):c.1983-8C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3020533	NM_001040716.2(PC):c.1983-15C>G	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3019405	NM_001040716.2(PC):c.751+8G>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3019286	NM_001040716.2(PC):c.1982+13T>G	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3018062	NM_001040716.2(PC):c.1513+18C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3017146	NM_001040716.2(PC):c.2474-18_2474-13del	PC	Deletion (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3017129	NM_001040716.2(PC):c.78C>T (p.Ser26=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3016458	NM_001040716.2(PC):c.3288+10C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3016446	NM_001040716.2(PC):c.3288+14C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3016173	NM_001040716.2(PC):c.840C>A (p.Ala280=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3016156	NM_001040716.2(PC):c.1826-18C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3015904	NM_001040716.2(PC):c.1860T>C (p.Tyr620=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3014704	NM_001040716.2(PC):c.177G>A (p.Leu59=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3014407	NM_001040716.2(PC):c.3289-10G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3013719	NM_001040716.2(PC):c.751+17C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3013526	NM_001040716.2(PC):c.2223+11C>G	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3011594	NM_001040716.2(PC):c.2473+18C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3007622	NM_001040716.2(PC):c.752-13C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3006637	NM_001040716.2(PC):c.3114C>T (p.Phe1038=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3006211	NM_001040716.2(PC):c.1339del (p.Ala448fs)	PC (A448fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 3005132	NM_001040716.2(PC):c.2994T>C (p.His998=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3004512	NM_001040716.2(PC):c.408C>T (p.Val136=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3004322	NM_001040716.2(PC):c.3288+14del	PC	Deletion (intron variant)	Pyruvate carboxylase deficiency	GBenign
Select item 3004312	NM_001040716.2(PC):c.321+11T>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3003897	NM_001040716.2(PC):c.3148-4G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3003309	NM_001040716.2(PC):c.3441T>C (p.Thr1147=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3003117	NM_001040716.2(PC):c.3477G>A (p.Lys1159=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 3001248	NM_001040716.2(PC):c.1131G>A (p.Arg377=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2997449	NM_001040716.2(PC):c.3056A>G (p.His1019Arg)	PC (H1019R)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2991648	NM_001040716.2(PC):c.339A>G (p.Ala113=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2990788	NM_001040716.2(PC):c.3387C>T (p.Ala1129=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2990222	NM_001040716.2(PC):c.3289-12C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2989563	NM_001040716.2(PC):c.3289-17C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2988850	NM_001040716.2(PC):c.1023-13C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2988468	NM_001040716.2(PC):c.3258C>T (p.Ser1086=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2985731	NM_001040716.2(PC):c.3165C>A (p.Gly1055=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2985641	NM_001040716.2(PC):c.279G>T (p.Val93=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2983800	NM_001040716.2(PC):c.2473+16G>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2982363	NM_001040716.2(PC):c.2224-31TC[12]	PC	Microsatellite (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2980618	NM_001040716.2(PC):c.201C>T (p.Tyr67=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2978190	NM_001040716.2(PC):c.309C>T (p.Ile103=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2977362	NM_001040716.2(PC):c.3288+17G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2976807	NM_001040716.2(PC):c.1022+20C>T	LOC130006142, PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2976036	NM_001040716.2(PC):c.1983-11C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2974649	NM_001040716.2(PC):c.1983-19G>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2973491	NM_001040716.2(PC):c.2224-20C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2969794	NM_001040716.2(PC):c.846C>A (p.His282Gln)	PC (H282Q)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2964028	NM_001040716.2(PC):c.1794C>T (p.Phe598=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2962715	NM_001040716.2(PC):c.1368+19del	PC	Deletion (intron variant)	Pyruvate carboxylase deficiency	GBenign
Select item 2962210	NM_001040716.2(PC):c.2898+11C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2962171	NM_001040716.2(PC):c.1825+18G>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2955970	NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)	PC (S705*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GPathogenic

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