ClinVar for MedGen (Select 75694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3776095	NM_000532.5(PCCB):c.1349A>G (p.Asp450Gly)	PCCB (D450G +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 3775200	NM_000282.4(PCCA):c.1937del (p.Glu645_Leu646insTer)	PCCA	Deletion (nonsense +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3766635	NM_000532.5(PCCB):c.373-1236G>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3764493	NM_000282.4(PCCA):c.601-3C>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GUncertain significance
Select item 3729305	NM_000532.5(PCCB):c.834G>A (p.Leu278=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3728445	NM_000282.4(PCCA):c.27_36del (p.Pro10fs)	PCCA (P10fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 3728126	NM_000282.4(PCCA):c.108T>C (p.His36=)	PCCA	Single nucleotide variant (synonymous variant +3 more)	Propionic acidemia	GLikely benign
Select item 3726774	NM_000532.5(PCCB):c.1530del (p.Thr511fs)	PCCB (T511fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic
Select item 3726614	NM_000282.4(PCCA):c.1643+19A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3725531	NM_000282.4(PCCA):c.1899+10A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3724903	NM_000282.4(PCCA):c.1210-19C>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3720539	NM_000532.5(PCCB):c.1351dup (p.Thr451fs)	PCCB (T451fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GPathogenic
Select item 3720538	NM_000532.5(PCCB):c.1325T>C (p.Met442Thr)	PCCB (M442T +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 3719067	NM_000532.5(PCCB):c.141G>C (p.Leu47=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3717996	NM_000282.4(PCCA):c.1104C>T (p.Asp368=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3717292	NM_000532.5(PCCB):c.967-7C>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3716421	NM_000282.4(PCCA):c.820-20A>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3716290	NM_000282.4(PCCA):c.1815C>T (p.Val605=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3713384	NM_000532.5(PCCB):c.1399-20A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3711844	NM_000532.5(PCCB):c.303+14T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3711559	NM_000282.4(PCCA):c.1429+19A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3711390	NM_000282.4(PCCA):c.1747-17A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3708537	NM_000282.4(PCCA):c.1721C>G (p.Ala574Gly)	PCCA (A259G +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 3706848	NM_000282.4(PCCA):c.105+18C>T	LOC130010061, PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3705699	NM_000282.4(PCCA):c.1722A>T (p.Ala574=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3705642	NM_000532.5(PCCB):c.12A>C (p.Ala4=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3704223	NM_000282.4(PCCA):c.638-9T>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3704222	NM_000282.4(PCCA):c.638-15C>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3702124	NM_000282.4(PCCA):c.931G>A (p.Glu311Lys)	PCCA (E285K +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 3700767	NM_000282.4(PCCA):c.1437A>C (p.Thr479=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3699494	NM_000532.5(PCCB):c.1198+14dup	PCCB	Duplication (intron variant)	Propionic acidemia	GLikely benign
Select item 3698628	NM_000532.5(PCCB):c.1314C>T (p.Ala438=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3697808	NM_000532.5(PCCB):c.304-15G>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3697025	NM_000532.5(PCCB):c.543+17T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3696558	NM_000282.4(PCCA):c.1704A>G (p.Lys568=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3695011	NM_000282.4(PCCA):c.1152C>T (p.His384=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3693880	NM_000532.5(PCCB):c.349A>G (p.Arg117Gly)	PCCB (R117G)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 3693350	NM_000532.5(PCCB):c.1487C>T (p.Ala496Val)	PCCB (A516V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 3692931	NM_000282.4(PCCA):c.601-12C>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3692528	NM_000532.5(PCCB):c.177C>T (p.His59=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3691431	NM_000532.5(PCCB):c.1399-13C>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3690737	NM_000282.4(PCCA):c.105+10A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3689073	NM_000282.4(PCCA):c.1065+7A>T	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3688764	NM_000282.4(PCCA):c.1499G>A (p.Ser500Asn)	PCCA (S452N +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 3688436	NM_000532.5(PCCB):c.172C>T (p.Gln58Ter)	PCCB (Q58*)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic
Select item 3687882	NM_000282.4(PCCA):c.794A>T (p.Asp265Val)	PCCA (D239V +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 3687225	NM_000532.5(PCCB):c.654+12G>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3687067	NM_000532.5(PCCB):c.884+20A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3686960	NM_000282.4(PCCA):c.1168del (p.Arg390fs)	PCCA (R390fs +2 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 3686857	NM_000282.4(PCCA):c.915-11T>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3682157	NM_000282.4(PCCA):c.1785G>T (p.Thr595=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3680843	NM_000532.5(PCCB):c.303+7G>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3671770	NM_000282.4(PCCA):c.1643+10A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3670213	NM_000532.5(PCCB):c.429+19A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3670116	NM_000532.5(PCCB):c.588C>G (p.Ile196Met)	PCCB (I216M +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 3668189	NM_000282.4(PCCA):c.615T>C (p.Ala205=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3664921	NM_000282.4(PCCA):c.1062C>G (p.Leu354=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3662598	NM_000532.5(PCCB):c.73del (p.Val25fs)	PCCB (V25fs)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic
Select item 3662104	NM_000282.4(PCCA):c.1984C>T (p.Leu662=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3661965	NM_000282.4(PCCA):c.291T>C (p.Asp97=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3661751	NM_000282.4(PCCA):c.1929C>A (p.Ala643=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3659654	NM_000282.4(PCCA):c.708A>G (p.Glu236=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3657965	NM_000282.4(PCCA):c.1983T>C (p.Val661=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3656118	NM_000282.4(PCCA):c.1863A>T (p.Ala621=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3655697	NM_000532.5(PCCB):c.1498+13G>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3653811	NM_000532.5(PCCB):c.363C>A (p.Val121=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3652677	NM_000532.5(PCCB):c.408A>T (p.Ala136=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3652113	NM_000282.4(PCCA):c.1275T>C (p.His425=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3651338	NM_000282.4(PCCA):c.1210-14del	PCCA	Deletion (intron variant)	Propionic acidemia	GLikely benign
Select item 3651096	NM_000282.4(PCCA):c.1899+12A>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3648638	NM_000282.4(PCCA):c.1479C>G (p.Arg493=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3647286	NM_000532.5(PCCB):c.1299+1G>T	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 3647156	NM_000532.5(PCCB):c.637_641del (p.Phe213fs)	PCCB (F213fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic
Select item 3645666	NM_000532.5(PCCB):c.813C>A (p.Leu271=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3644331	NM_000282.4(PCCA):c.2118+8C>A	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3643743	NM_000532.5(PCCB):c.303+10C>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3642322	NM_000532.5(PCCB):c.1091-10C>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3642091	NM_000282.4(PCCA):c.1354-18T>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3641882	NM_000532.5(PCCB):c.1499-10G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3639955	NM_000532.5(PCCB):c.378T>C (p.Phe126=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3639043	NM_000532.5(PCCB):c.430-7G>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3638741	NM_000282.4(PCCA):c.1992C>A (p.Ser664=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3638119	NM_000282.4(PCCA):c.345T>C (p.Ala115=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3638021	NM_000532.5(PCCB):c.885-17del	PCCB	Deletion (intron variant)	Propionic acidemia	GLikely benign
Select item 3636579	NM_000282.4(PCCA):c.2017G>T (p.Val673Phe)	PCCA (V340F +7 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 3636577	NM_000282.4(PCCA):c.1243G>A (p.Gly415Arg)	PCCA (G100R +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 3636576	NM_000282.4(PCCA):c.854T>G (p.Leu285Arg)	PCCA (L285R +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 3630906	NM_000532.5(PCCB):c.399G>A (p.Leu133=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3626584	NM_000282.4(PCCA):c.1170C>T (p.Arg390=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3626185	NM_000282.4(PCCA):c.2118+20T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3625810	NM_000282.4(PCCA):c.2040+20C>T	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3625367	NM_000532.5(PCCB):c.1003A>G (p.Asn335Asp)	PCCB (N335D +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 3624932	NM_000532.5(PCCB):c.654+19T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3622655	NM_000282.4(PCCA):c.1779C>T (p.Thr593=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3622454	NM_000532.5(PCCB):c.831C>T (p.Tyr277=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3621251	NM_000532.5(PCCB):c.764-14C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3620102	NM_000282.4(PCCA):c.1062C>T (p.Leu354=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3619492	NM_000532.5(PCCB):c.429+12A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3619225	NM_000282.4(PCCA):c.753T>A (p.Ser251=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3617954	NM_000282.4(PCCA):c.1782C>T (p.Ser594=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign

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