ClinVar for MedGen (Select 18801) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2955566	NM_001040716.2(PC):c.2719-13G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2918732	NM_001040716.2(PC):c.2474-15_2474-14del	PC	Microsatellite (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2918420	NM_001040716.2(PC):c.2244G>A (p.Lys748=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2917532	NM_001040716.2(PC):c.488-17C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2917481	NM_001040716.2(PC):c.322-17C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2917054	NM_001040716.2(PC):c.2898+17A>G	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2916783	NM_001040716.2(PC):c.3475A>G (p.Lys1159Glu)	PC (K1159E)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2915059	NM_001040716.2(PC):c.2613C>T (p.Tyr871=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2913916	NM_001040716.2(PC):c.751+11C>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2913191	NM_001040716.2(PC):c.904-12C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2912737	NM_001040716.2(PC):c.3394G>A (p.Ala1132Thr)	PC (A1132T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2912422	NM_001040716.2(PC):c.1596G>A (p.Val532=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2912038	NM_001040716.2(PC):c.2328A>G (p.Ser776=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2911475	NM_001040716.2(PC):c.1023-15C>G	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2911406	NM_001040716.2(PC):c.2224-31TC[7]	PC	Microsatellite (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2911067	NM_001040716.2(PC):c.751+15C>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2910002	NM_001040716.2(PC):c.3288+13C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2908311	NM_001040716.2(PC):c.2898+12C>G	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2908165	NM_001040716.2(PC):c.88C>T (p.Arg30Trp)	PC (R30W)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2907168	NM_001040716.2(PC):c.1368+20G>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2906511	NM_001040716.2(PC):c.2466G>C (p.Leu822=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2905866	NM_001040716.2(PC):c.1604-14C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2903533	NM_001040716.2(PC):c.2224-9T>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2902932	NM_001040716.2(PC):c.1369-17C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2902609	NM_001040716.2(PC):c.1878G>A (p.Arg626=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2902297	NM_001040716.2(PC):c.1783G>T (p.Ala595Ser)	PC (A595S)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2902224	NM_001040716.2(PC):c.2474-17C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2902107	NM_001040716.2(PC):c.1825+18G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2901185	NM_001040716.2(PC):c.420G>C (p.Gly140=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2901095	NM_001040716.2(PC):c.751+20C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2900790	NM_001040716.2(PC):c.1891C>T (p.Arg631Trp)	PC (R631W)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2900134	NM_001040716.2(PC):c.2942C>T (p.Ser981Phe)	PC (S981F)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2899902	NM_001040716.2(PC):c.1369-16C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2899875	NM_001040716.2(PC):c.1680C>T (p.His560=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2899309	NM_001040716.2(PC):c.634-14G>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2898728	NM_001040716.2(PC):c.2224-13C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2898614	NM_001040716.2(PC):c.1982+17G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2898000	NM_001040716.2(PC):c.321+20T>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2897499	NM_001040716.2(PC):c.2385T>C (p.Asp795=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2897498	NM_001040716.2(PC):c.2820T>C (p.Phe940=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2897497	NM_001040716.2(PC):c.3492G>A (p.Lys1164=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2897364	NM_001040716.2(PC):c.1344G>T (p.Ala448=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2897318	NM_001040716.2(PC):c.2899-14G>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 2896216	NM_001040716.2(PC):c.1368+19C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GLikely benign

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