Related gene-specific medical variations for Gene (Select 7384) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607404	NM_003365.3(UQCRC1):c.38G>C (p.Gly13Ala)	LOC129936714, UQCRC1 (G13A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548301	NM_003365.3(UQCRC1):c.5C>T (p.Ala2Val)	LOC129936714, UQCRC1 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469062	NM_003365.3(UQCRC1):c.83G>T (p.Arg28Leu)	LOC129936713, UQCRC1 (R28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441752	NM_003365.3(UQCRC1):c.279G>C (p.Leu93Phe)	UQCRC1 (L93F)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GUncertain significance
Select item 2353635	NM_003365.3(UQCRC1):c.47T>C (p.Val16Ala)	LOC129936714, UQCRC1 (V16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236295	NM_003365.3(UQCRC1):c.91G>A (p.Ala31Thr)	LOC129936713, UQCRC1 (A31T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676548	NM_003365.3(UQCRC1):c.302C>T (p.Thr101Ile)	UQCRC1 (T101I)	Single nucleotide variant	not provided	GUncertain significance
Select item 1192517	NM_003365.3(UQCRC1):c.70-1G>A	LOC129936713, UQCRC1	Single nucleotide variant (splice acceptor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1192516	NM_003365.3(UQCRC1):c.73dup (p.Ala25fs)	LOC129936713, UQCRC1 (A25fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1064665	NM_003365.3(UQCRC1):c.[70-1G>A;73dup]	LOC129936713, UQCRC1 (A25fs)	Duplication (frameshift variant +1 more)	Parkinsonism with polyneuropathy	GPathogenic