ClinVar for MedGen (Select 75694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3065456	NM_000282.4(PCCA):c.496C>A (p.Pro166Thr)	PCCA (P140T +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3065256	NM_000282.4(PCCA):c.111_130del (p.Tyr39fs)	PCCA (Y39fs)	Deletion (frameshift variant +3 more)	Propionic acidemia	GLikely pathogenic
Select item 3064985	NM_000282.4(PCCA):c.812A>T (p.Glu271Val)	PCCA (E245V +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely benign
Select item 3064461	NM_000532.5(PCCB):c.1523del (p.Pro508fs)	PCCB (P508fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 3023683	NM_000532.5(PCCB):c.1399-12_1399-10del	PCCB	Microsatellite (intron variant)	Propionic acidemia	GLikely benign
Select item 3023607	NM_000282.4(PCCA):c.962T>C (p.Val321Ala)	PCCA (V321A +2 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 3023118	NM_000532.5(PCCB):c.183+12G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3022896	NM_000282.4(PCCA):c.2040+12G>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3021893	NM_000282.4(PCCA):c.1846-9_1846-6del	PCCA	Microsatellite (intron variant)	Propionic acidemia	GLikely benign
Select item 3019530	NM_000282.4(PCCA):c.429T>C (p.Tyr143=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	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 3018691	NM_000282.4(PCCA):c.1066-15A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3018078	NM_000282.4(PCCA):c.1209+18G>T	PCCA	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 3016823	NM_000282.4(PCCA):c.1284+18_1284+34del	PCCA	Deletion (intron variant)	Propionic acidemia	GLikely benign
Select item 3015638	NM_000282.4(PCCA):c.1926T>G (p.Leu642=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	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 3014423	NM_000282.4(PCCA):c.1284+14C>T	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3014404	NM_000282.4(PCCA):c.87G>C (p.Ala29=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3014351	NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)	PCCA (L538I +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
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 3011506	NM_000282.4(PCCA):c.1761G>A (p.Gly587=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	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 3007582	NM_000282.4(PCCA):c.716+20A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3007476	NM_000282.4(PCCA):c.2119-17A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3007125	NM_000282.4(PCCA):c.717-19T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3005420	NM_000282.4(PCCA):c.1846-20A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3005171	NM_000282.4(PCCA):c.915-15T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3001554	NM_000282.4(PCCA):c.1680G>A (p.Glu560=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3001396	NM_000282.4(PCCA):c.1845+20C>A	PCCA	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 3000570	NM_000282.4(PCCA):c.106-5dup	PCCA	Duplication (intron variant)	Propionic acidemia	GBenign
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 2997095	NM_000282.4(PCCA):c.1429+10A>G	PCCA	Single nucleotide variant (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 2994823	NM_000282.4(PCCA):c.1354-17T>G	PCCA	Single nucleotide variant (intron 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 2993787	NM_000282.4(PCCA):c.99C>G (p.Thr33=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	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 2990369	NM_000282.4(PCCA):c.468+15A>G	PCCA	Single nucleotide variant (intron 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 2989527	NM_000282.4(PCCA):c.129G>A (p.Gln43=)	PCCA	Single nucleotide variant (synonymous variant +3 more)	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 2985693	NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)	PCCA (Y354fs +2 more)	Duplication (frameshift variant +2 more)	Propionic acidemia	GPathogenic
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 2984859	NM_000282.4(PCCA):c.1846-13G>T	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2984202	NM_000282.4(PCCA):c.2040+20C>G	PCCA	Single nucleotide variant (intron 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 2981320	NM_000282.4(PCCA):c.106-5del	PCCA	Deletion (intron variant)	Propionic acidemia	GLikely benign
Select item 2979919	NM_000282.4(PCCA):c.184-11dup	PCCA	Duplication (intron variant)	Propionic acidemia	GBenign
Select item 2978447	NM_000282.4(PCCA):c.717-15T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2977514	NM_000282.4(PCCA):c.1429+15T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2976533	NM_000532.5(PCCB):c.183+15G>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2976237	NM_000282.4(PCCA):c.1245G>A (p.Gly415=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 2976131	NM_000282.4(PCCA):c.1066-7C>G	PCCA	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 2974357	NM_000282.4(PCCA):c.334G>A (p.Val112Ile)	PCCA (V86I +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 2973721	NM_000282.4(PCCA):c.300+18T>C	PCCA	Single nucleotide variant (intron 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 2971023	NM_000282.4(PCCA):c.600+15T>C	PCCA	Single nucleotide variant (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 2968848	NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)	PCCA (G367S +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 2968139	NM_000282.4(PCCA):c.231+19T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2966855	NM_000282.4(PCCA):c.232-18T>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
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 2963907	NM_000282.4(PCCA):c.16del (p.Val6fs)	PCCA (V6fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 2963809	NM_000282.4(PCCA):c.914+17A>T	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2959170	NM_000282.4(PCCA):c.469-9del	PCCA	Deletion (intron variant)	Propionic acidemia	GBenign
Select item 2920126	NM_000532.5(PCCB):c.655-20C>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2919158	NM_000282.4(PCCA):c.1210-15C>T	PCCA	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 2916787	NM_000282.4(PCCA):c.1747-11T>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2916185	NM_000532.5(PCCB):c.1198+12A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2915386	NM_000282.4(PCCA):c.1430-16A>G	PCCA	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 2914395	NM_000282.4(PCCA):c.1541-14T>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign

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