ClinVar for MedGen (Select 1648283) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375138	NM_005002.5(NDUFA9):c.895C>T (p.Arg299Ter)	NDUFA9 (R299*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 26	GPathogenic
Select item 3234875	NM_005002.5(NDUFA9):c.267T>A (p.Tyr89Ter)	NDUFA9 (Y89*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 26	GLikely pathogenic
Select item 2689550	NM_005002.5(NDUFA9):c.158G>C (p.Gly53Ala)	NDUFA9 (G53A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GUncertain significance
Select item 2689549	NM_005002.5(NDUFA9):c.721T>C (p.Tyr241His)	NDUFA9 (Y241H)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GUncertain significance
Select item 1806302	NM_005002.5(NDUFA9):c.50G>T (p.Arg17Leu)	NDUFA9 (R17L)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GUncertain significance
Select item 1201565	NM_005002.5(NDUFA9):c.223C>T (p.Arg75Cys)	NDUFA9 (R75C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030867	NM_005002.5(NDUFA9):c.251A>C (p.Tyr84Ser)	NDUFA9 (Y84S)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GUncertain significance
Select item 996908	NM_005002.5(NDUFA9):c.938G>A (p.Trp313Ter)	NDUFA9 (W313*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 26	GLikely pathogenic
Select item 917538	NM_005002.5(NDUFA9):c.1061G>A (p.Arg354Gln)	NDUFA9 (R354Q)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GUncertain significance
Select item 802811	NM_005002.5(NDUFA9):c.897-115A>G	NDUFA9	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 587683	NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys)	NDUFA9 (R360C)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GLikely pathogenic
Select item 372847	NM_005002.5(NDUFA9):c.655+5G>A	NDUFA9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214722	NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)	NDUFA9 (R75L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214715	NM_005002.5(NDUFA9):c.942A>G (p.Ile314Met)	NDUFA9 (I314M)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26 +2 more	GConflicting classifications of pathogenicity
Select item 214714	NM_005002.5(NDUFA9):c.728T>C (p.Val243Ala)	NDUFA9 (V243A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26 +3 more	GConflicting classifications of pathogenicity
Select item 138449	NM_005002.5(NDUFA9):c.553-17G>A	NDUFA9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 138448	NM_005002.5(NDUFA9):c.552+11A>C	NDUFA9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 30391	NM_005002.5(NDUFA9):c.962G>C (p.Arg321Pro)	NDUFA9 (R321P)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GPathogenic