ClinVar for MedGen (Select 1622927) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1940763	NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)	TIMM50 (L15R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1723218	NM_001001563.5(TIMM50):c.328C>T (p.Gln110Ter)	TIMM50 (Q110*)	Single nucleotide variant (nonsense +1 more)	3-methylglutaconic aciduria type 9	GLikely pathogenic
Select item 1423336	NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys)	TIMM50 (R345C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1334174	NM_001001563.5(TIMM50):c.341G>A (p.Arg114Gln)	TIMM50 (R114Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298014	NM_001001563.5(TIMM50):c.696+38G>A	TIMM50	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288036	NM_001001563.5(TIMM50):c.597+38T>C	TIMM50	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 9 +1 more	GBenign
Select item 1170144	NM_001001563.5(TIMM50):c.492+17C>G	TIMM50	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 9 +1 more	GBenign
Select item 1168602	NM_001001563.5(TIMM50):c.108+21C>G	TIMM50	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 9 +1 more	GBenign
Select item 1165754	NM_001001563.5(TIMM50):c.598-15C>T	TIMM50	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 9 +1 more	GBenign/Likely benign
Select item 1034334	NM_001001563.5(TIMM50):c.854-8G>C	TIMM50	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028411	NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)	TIMM50 (S94I +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 9	GUncertain significance
Select item 915392	NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)	TIMM50 (R111I +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 9	GUncertain significance
Select item 811457	NC_000019.10:g.39480831G>A		Single nucleotide variant	3-methylglutaconic aciduria type 9	GUncertain significance
Select item 780558	NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp)	TIMM50 (S9W)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 9 +2 more	GBenign/Likely benign
Select item 559480	NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter)	TIMM50 (S9*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial encephalopathy	GPathogenic
Select item 559479	NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala)	TIMM50 (G87A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial encephalopathy	GPathogenic
Select item 488623	NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)	TIMM50 (R239W +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 9 +1 more	GConflicting classifications of pathogenicity
Select item 488622	NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr)	TIMM50 (A222T +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 9	GPathogenic
Select item 440793	NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)	TIMM50 (R114W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 440792	NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)	TIMM50 (T149M +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 9	GPathogenic
Select item 208697	NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser)	TIMM50 (G269S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic

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Items: 21