UQCRC1[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2345820	NM_003365.3(UQCRC1):c.1420G>T (p.Gly474Cys)	UQCRC1 (G474C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371480	NM_003365.3(UQCRC1):c.1363G>A (p.Ala455Thr)	UQCRC1 (A455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286957	NM_003365.3(UQCRC1):c.1345A>C (p.Ile449Leu)	UQCRC1 (I449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186873	NM_003365.3(UQCRC1):c.1331T>C (p.Ile444Thr)	UQCRC1 (I444T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349694	NM_003365.3(UQCRC1):c.1325G>A (p.Arg442His)	UQCRC1 (R442H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186872	NM_003365.3(UQCRC1):c.1312G>T (p.Ala438Ser)	UQCRC1 (A438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463084	NM_003365.3(UQCRC1):c.1301C>T (p.Ala434Val)	UQCRC1 (A434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186871	NM_003365.3(UQCRC1):c.1264C>T (p.Arg422Cys)	UQCRC1 (R422C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245369	NM_003365.3(UQCRC1):c.1240G>A (p.Gly414Arg)	UQCRC1 (G414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186870	NM_003365.3(UQCRC1):c.1187G>T (p.Arg396Ile)	UQCRC1 (R396I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224060	NM_003365.3(UQCRC1):c.1169G>A (p.Arg390Gln)	UQCRC1 (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295339	NM_003365.3(UQCRC1):c.1166C>T (p.Ala389Val)	UQCRC1 (A389V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186869	NM_003365.3(UQCRC1):c.1133G>A (p.Arg378His)	UQCRC1 (R378H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186868	NM_003365.3(UQCRC1):c.1121G>A (p.Gly374Glu)	UQCRC1 (G374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348913	NM_003365.3(UQCRC1):c.1096G>A (p.Asp366Asn)	UQCRC1 (D366N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186866	NM_003365.3(UQCRC1):c.1052C>T (p.Thr351Met)	UQCRC1 (T351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024091	NM_003365.3(UQCRC1):c.964G>A (p.Val322Met)	UQCRC1 (V322M)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GUncertain significance
Select item 2522202	NM_003365.3(UQCRC1):c.950C>T (p.Thr317Ile)	UQCRC1 (T317I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1064663	NM_003365.3(UQCRC1):c.941A>C (p.Tyr314Ser)	UQCRC1 (Y314S)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GPathogenic
Select item 1064664	NM_003365.3(UQCRC1):c.931A>C (p.Ile311Leu)	UQCRC1 (I311L)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GPathogenic
Select item 3042768	NM_003365.3(UQCRC1):c.902A>G (p.Asn301Ser)	UQCRC1 (N301S)	Single nucleotide variant (missense variant)	UQCRC1-related disorder	GLikely benign
Select item 3186877	NM_003365.3(UQCRC1):c.896C>T (p.Pro299Leu)	UQCRC1 (P299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462762	NM_003365.3(UQCRC1):c.868G>T (p.Ala290Ser)	UQCRC1 (A290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 801349	NM_003365.3(UQCRC1):c.826C>T (p.Arg276Cys)	UQCRC1 (R276C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 2316792	NM_003365.3(UQCRC1):c.694G>A (p.Ala232Thr)	UQCRC1 (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365306	NM_003365.3(UQCRC1):c.637C>T (p.Arg213Cys)	UQCRC1 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186875	NM_003365.3(UQCRC1):c.422C>T (p.Pro141Leu)	UQCRC1 (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438491	NM_003365.3(UQCRC1):c.376C>T (p.Arg126Trp)	UQCRC1 (R126W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2506569	NM_003365.3(UQCRC1):c.359T>C (p.Leu120Pro)	UQCRC1 (L120P)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GLikely pathogenic
Select item 2609653	NM_003365.3(UQCRC1):c.320G>A (p.Ser107Asn)	UQCRC1 (S107N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186874	NM_003365.3(UQCRC1):c.307A>T (p.Asn103Tyr)	UQCRC1 (N103Y)	Single nucleotide variant (missense variant)	not specified	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 2294700	NM_003365.3(UQCRC1):c.152G>T (p.Ser51Ile)	UQCRC1 (S51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546330	NM_003365.3(UQCRC1):c.143C>T (p.Thr48Met)	UQCRC1 (T48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269069	NM_003365.3(UQCRC1):c.133G>T (p.Val45Leu)	UQCRC1 (V45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676548	NM_003365.3(UQCRC1):c.302C>T (p.Thr101Ile)	UQCRC1 (T101I)	Single nucleotide variant	not provided	GUncertain significance

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Items: 36