Related gene-specific medical variations for Gene (Select 284184) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299050	NM_001086521.2(NDUFAF8):c.79G>A (p.Ala27Thr)	LOC130061929, NDUFAF8 (A27T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2632039	NM_001086521.2(NDUFAF8):c.17C>A (p.Ala6Glu)	LOC130061928, NDUFAF8 (A6E)	Single nucleotide variant (missense variant +1 more)	NDUFAF8-related disorder	GUncertain significance
Select item 2350535	NM_001086521.2(NDUFAF8):c.28C>T (p.Arg10Cys)	LOC130061928, NDUFAF8 (R10C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252367	NM_001086521.2(NDUFAF8):c.19G>T (p.Val7Leu)	LOC130061928, NDUFAF8 (V7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1690644	NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu)	NDUFAF8, LOC130061928 (M1L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 34	GPathogenic
Select item 1246030	NM_001086521.2(NDUFAF8):c.84+58G>A	LOC130061929, NDUFAF8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231325	NM_001086521.2(NDUFAF8):c.-23C>T	LOC130061928, NDUFAF8	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 691644	NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs)	LOC130061929, NDUFAF8 +1 more (F18fs)	Duplication (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 691643	NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val)	LOC130061928, NDUFAF8 (M1V)	Single nucleotide variant (missense variant +2 more)	Mitochondrial disease	GPathogenic