ClinVar for MedGen (Select 1742371) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691857	NM_001042631.3(SDHAF1):c.95T>A (p.Val32Glu)	LOC130064279, SDHAF1 (V32E)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GLikely pathogenic
Select item 2584803	NM_001042631.3(SDHAF1):c.43T>G (p.Tyr15Asp)	SDHAF1, LOC130064279 (Y15D)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GUncertain significance
Select item 1699123	NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)	LOC130064279, SDHAF1 (Q10*)	Single nucleotide variant (nonsense)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 1027545	NM_001042631.3(SDHAF1):c.170G>A (p.Gly57Glu)	LOC130064280, SDHAF1 (G57E)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 426195	NM_001042631.3(SDHAF1):c.22C>T (p.Gln8Ter)	LOC130064279, SDHAF1 (Q8*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 280451	NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)	SDHAF1 (Y52*)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 193150	NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)	LOC130064281, SDHAF1 (C90S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 430	NM_001042631.3(SDHAF1):c.164G>C (p.Arg55Pro)	LOC130064280, SDHAF1 (R55P)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 429	NM_001042631.3(SDHAF1):c.169G>C (p.Gly57Arg)	LOC130064280, SDHAF1 (G57R)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic