ClinVar for MedGen (Select 1648321) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674637	NM_199069.2(NDUFAF3):c.77+1G>A	LOC129936729, NDUFAF3	Single nucleotide variant (intron variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic
Select item 2674636	NM_199069.2(NDUFAF3):c.302G>A (p.Ser101Asn)	NDUFAF3 (S101N +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic
Select item 2585571	NM_199069.2(NDUFAF3):c.127C>T (p.Gln43Ter)	LOC129936730, NDUFAF3 (Q43*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18	GLikely pathogenic
Select item 2434086	NM_199069.2(NDUFAF3):c.517G>A (p.Gly173Arg)	NDUFAF3 (G116R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GUncertain significance
Select item 1207415	NM_199069.2(NDUFAF3):c.74C>T (p.Pro25Leu)	LOC129936729, NDUFAF3 (P25L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18 +2 more	GConflicting classifications of pathogenicity
Select item 1030419	NM_199069.2(NDUFAF3):c.112G>A (p.Asp38Asn)	LOC129936730, NDUFAF3 (D38N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18	GUncertain significance
Select item 638292	NM_199069.2(NDUFAF3):c.494C>T (p.Ala165Val)	NDUFAF3 (A108V +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GLikely pathogenic
Select item 632420	NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter)	NDUFAF3 (Q127* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 18 +1 more	GUncertain significance
Select item 377248	NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)	NDUFAF3 (Y63* +1 more)	Duplication (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 372432	NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs)	NDUFAF3 (G164fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 424	NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr)	LOC129936729, NDUFAF3 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 423	NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro)	NDUFAF3 (R122P +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic
Select item 422	NM_199069.2(NDUFAF3):c.229G>C (p.Gly77Arg)	LOC129936731, NDUFAF3 (G77R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic