ClinVar for MedGen (Select 1623572) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1805721	NM_024417.5(FDXR):c.623C>T (p.Thr208Met)	FDXR (T156M +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy +1 more	GConflicting classifications of pathogenicity
Select item 1803971	NM_024417.5(FDXR):c.332T>C (p.Val111Ala)	FDXR (V103A +4 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy-optic atrophy syndrome	GPathogenic
Select item 1803970	NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)	FDXR	Deletion (inframe_deletion +1 more)	Auditory neuropathy-optic atrophy syndrome	GPathogenic
Select item 1699164	NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys)	FDXR (R435C +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1526076	NM_024417.5(FDXR):c.1454T>C (p.Met485Thr)	FDXR (M433T +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GUncertain significance
Select item 1339003	NM_024417.5(FDXR):c.926G>A (p.Arg309Gln)	FDXR (R257Q +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GUncertain significance
Select item 1237995	NM_024417.5(FDXR):c.271-15C>T	FDXR	Single nucleotide variant (intron variant)	Auditory neuropathy-optic atrophy syndrome +1 more	GBenign
Select item 1185063	NM_024417.5(FDXR):c.368del (p.Gln123fs)	FDXR (Q115fs +4 more)	Deletion (frameshift variant +2 more)	Auditory neuropathy-optic atrophy syndrome	GLikely pathogenic
Select item 983267	NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)	FDXR (R103W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 803464	NM_024417.5(FDXR):c.980G>A (p.Arg327His)	FDXR (R287H +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome +1 more	GUncertain significance
Select item 689760	NM_024417.5(FDXR):c.472G>A (p.Val158Met)	FDXR (V150M +5 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GLikely pathogenic
Select item 689759	NM_024417.5(FDXR):c.619A>T (p.Ile207Phe)	FDXR (I167F +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GLikely pathogenic
Select item 521094	NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser)	FDXR (G443S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 520994	NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)	FDXR (R392W +6 more)	Single nucleotide variant (missense variant +1 more)	FDXR-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 520993	NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)	FDXR (P74L +4 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome +3 more	GConflicting classifications of pathogenicity
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
Select item 441240	NM_024417.5(FDXR):c.1429G>A (p.Glu477Lys)	FDXR (E477K +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GPathogenic
Select item 441239	NM_024417.5(FDXR):c.643C>G (p.Leu215Val)	FDXR (L215V +6 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy-optic atrophy syndrome	GPathogenic
Select item 441238	NM_024417.5(FDXR):c.1255C>T (p.Gln419Ter)	FDXR (Q419* +6 more)	Single nucleotide variant (nonsense +1 more)	Auditory neuropathy-optic atrophy syndrome	GPathogenic
Select item 441237	NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)	FDXR (R306C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic

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Items: 21