Related gene-specific medical variations for Gene (Select 2232) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048648	NM_024417.5(FDXR):c.3G>A (p.Met1Ile)	FDXR, LOC112533667 (M1I)	Single nucleotide variant (missense variant +2 more)	FDXR-related condition	GLikely pathogenic
Select item 2612879	NM_024417.5(FDXR):c.74C>T (p.Thr25Ile)	FDXR, LOC112533667 (T25I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2441730	NM_024417.5(FDXR):c.682C>T (p.Arg228Trp)	FDXR (R176W +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GUncertain significance
Select item 2370728	NM_024417.5(FDXR):c.4G>A (p.Ala2Thr)	FDXR, LOC112533667 (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1232741	NM_024417.5(FDXR):c.-37T>C	FDXR, LOC112533667	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 489042	NM_024417.5(FDXR):c.1A>G (p.Met1Val)	FDXR, LOC112533667 (M1V)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy-optic atrophy syndrome +1 more	GPathogenic/Likely pathogenic

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