ClinVar for Gene (Select 5096) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240045	NM_000532.5(PCCB):c.335_338dup (p.Ile114fs)	PCCB (I114fs)	Duplication (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 3240044	NM_000532.5(PCCB):c.925G>T (p.Glu309Ter)	PCCB (E309* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GLikely pathogenic
Select item 3240043	NM_000532.5(PCCB):c.1516dup (p.Ile506fs)	PCCB (I506fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 3240042	NM_000532.5(PCCB):c.1091-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 3240041	NM_000532.5(PCCB):c.967-2_971del	PCCB	Deletion (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 3235056	NM_000532.5(PCCB):c.373-1G>T	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 3065886	NM_000532.5(PCCB):c.1174G>T (p.Val392Phe)	PCCB (V392F +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 3065599	NM_000532.5(PCCB):c.1163T>A (p.Leu388His)	PCCB (L388H +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 3064461	NM_000532.5(PCCB):c.1523del (p.Pro508fs)	PCCB (P508fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 3032741	NM_000532.5(PCCB):c.*4A>G	PCCB	Single nucleotide variant (3 prime UTR variant)	PCCB-related disorder	GLikely benign
Select item 3026524	NM_000532.5(PCCB):c.173A>C (p.Gln58Pro)	PCCB (Q58P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3023683	NM_000532.5(PCCB):c.1399-12_1399-10del	PCCB	Microsatellite (intron variant)	Propionic acidemia	GLikely benign
Select item 3023118	NM_000532.5(PCCB):c.183+12G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3018810	NM_000532.5(PCCB):c.1398+18T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3017493	NM_000532.5(PCCB):c.132G>C (p.Arg44=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3015583	NM_000532.5(PCCB):c.764-10G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3015180	NM_000532.5(PCCB):c.1091-14C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3013888	NM_000532.5(PCCB):c.1198+19G>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3013431	NM_000532.5(PCCB):c.1032T>C (p.Phe344=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3010777	NM_000532.5(PCCB):c.1605A>G (p.Ala535=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3010137	NM_000532.5(PCCB):c.1498+12T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3009725	NM_000532.5(PCCB):c.966+13T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3009650	NM_000532.5(PCCB):c.1299+7A>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3001243	NM_000532.5(PCCB):c.184-5T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3000437	NM_000532.5(PCCB):c.429+15C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2999887	NM_000532.5(PCCB):c.429+20A>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2999645	NM_000532.5(PCCB):c.966+20G>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2997220	NM_000532.5(PCCB):c.1090+15_1090+16dup	PCCB	Duplication (intron variant)	Propionic acidemia	GLikely benign
Select item 2996064	NM_000532.5(PCCB):c.966+18_966+21del	PCCB	Deletion (intron variant)	Propionic acidemia	GLikely benign
Select item 2995330	NM_000532.5(PCCB):c.24G>A (p.Ala8=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2993836	NM_000532.5(PCCB):c.1199-15C>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2993786	NM_000532.5(PCCB):c.786A>G (p.Glu262=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2989966	NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)	PCCB (S152G +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2989752	NM_000532.5(PCCB):c.372+15C>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2989568	NM_000532.5(PCCB):c.654+17T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2989478	NM_000532.5(PCCB):c.381A>G (p.Thr127=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2989345	NM_000532.5(PCCB):c.1498+14G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2987784	NM_000532.5(PCCB):c.655-8dup	PCCB	Duplication (intron variant)	Propionic acidemia	GBenign
Select item 2987525	NM_000532.5(PCCB):c.102T>C (p.Ser34=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2985723	NM_000532.5(PCCB):c.444C>T (p.Ala148=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2985069	NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)	PCCB (R376G +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 2984914	NM_000532.5(PCCB):c.183+15del	PCCB	Deletion (intron variant)	Propionic acidemia	GBenign
Select item 2984904	NM_000532.5(PCCB):c.1386C>A (p.Val462=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2983978	NM_000532.5(PCCB):c.543+17T>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2982234	NM_000532.5(PCCB):c.1398+1G>A	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic
Select item 2976533	NM_000532.5(PCCB):c.183+15G>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2975708	NM_000532.5(PCCB):c.1077T>C (p.Pro359=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2971412	NM_000532.5(PCCB):c.1091-15TC[3]	PCCB	Microsatellite (intron variant)	Propionic acidemia	GLikely benign
Select item 2969394	NM_000532.5(PCCB):c.756_758del (p.Met253del)	PCCB (M253del +1 more)	Deletion (inframe_deletion)	Propionic acidemia	GUncertain significance
Select item 2966637	NM_000532.5(PCCB):c.304-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 2965486	NM_000532.5(PCCB):c.429+17C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2920126	NM_000532.5(PCCB):c.655-20C>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2918753	NM_000532.5(PCCB):c.27G>T (p.Ala9=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2916846	NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)	PCCB (G437C +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 2916185	NM_000532.5(PCCB):c.1198+12A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2915055	NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)	PCCB (G246D +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 2914872	NM_000532.5(PCCB):c.369_372del (p.Ser123fs)	PCCB (S123fs +1 more)	Microsatellite (frameshift variant)	Propionic acidemia	GPathogenic
Select item 2914608	NM_000532.5(PCCB):c.1198+19G>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2912467	NM_000532.5(PCCB):c.764-7C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2909631	NM_000532.5(PCCB):c.884+19C>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2909567	NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)	PCCB (A523V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2905119	NM_000532.5(PCCB):c.1198+14A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2901290	NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)	PCCB (G457D +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 2900266	NM_000532.5(PCCB):c.884+11G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2897833	NM_000532.5(PCCB):c.1300-18C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2896557	NM_000532.5(PCCB):c.763+12dup	PCCB	Duplication (intron variant)	Propionic acidemia	GLikely benign
Select item 2893265	NM_000532.5(PCCB):c.372+12C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2892091	NM_000532.5(PCCB):c.614T>G (p.Val205Gly)	PCCB (V225G +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 2889399	NM_000532.5(PCCB):c.1035A>G (p.Ala345=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2886182	NM_000532.5(PCCB):c.429+9T>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2880263	NM_000532.5(PCCB):c.1090+11G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2876474	NM_000532.5(PCCB):c.430-12C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2876424	NM_000532.5(PCCB):c.1198+18dup	PCCB	Duplication (intron variant)	Propionic acidemia	GLikely benign
Select item 2876106	NM_000532.5(PCCB):c.135C>G (p.Thr45=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2875458	NM_000532.5(PCCB):c.1300-1G>A	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 2871806	NM_000532.5(PCCB):c.183+18T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2871394	NM_000532.5(PCCB):c.1425G>T (p.Gly475=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2871319	NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)	PCCB (Q147* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic
Select item 2870566	NM_000532.5(PCCB):c.1398+15C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2868943	NM_000532.5(PCCB):c.1524T>G (p.Pro508=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2868033	NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)	PCCB (N270D +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2865355	NM_000532.5(PCCB):c.453G>A (p.Val151=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2865169	NM_000532.5(PCCB):c.1199-9C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2864876	NM_000532.5(PCCB):c.69C>G (p.Ala23=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2863961	NM_000532.5(PCCB):c.304-8dup	PCCB	Duplication (intron variant)	Propionic acidemia	GBenign
Select item 2863020	NM_000532.5(PCCB):c.184-8C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2859484	NM_000532.5(PCCB):c.59_60del (p.Gly20fs)	PCCB (G20fs)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic
Select item 2859320	NM_000532.5(PCCB):c.495G>T (p.Arg165=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2859129	NM_000532.5(PCCB):c.1498+9C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2859111	NM_000532.5(PCCB):c.1404T>C (p.Ala468=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2852796	NM_000532.5(PCCB):c.1254A>G (p.Ala418=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2851535	NM_000532.5(PCCB):c.184-16C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2850268	NM_000532.5(PCCB):c.429+17C>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2849029	NM_000532.5(PCCB):c.654+18G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2848102	NM_000532.5(PCCB):c.1491A>C (p.Ala497=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2847632	NM_000532.5(PCCB):c.1499-9C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2847201	NM_000532.5(PCCB):c.966+8C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2847118	NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)	PCCB (P211A +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2845915	NM_000532.5(PCCB):c.525C>A (p.Gly175=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2845822	NM_000532.5(PCCB):c.373-17T>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign

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