7384[geneid] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
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 3331171	NM_003365.3(UQCRC1):c.1409G>A (p.Arg470Gln)	UQCRC1 (R470Q)	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 3331170	NM_003365.3(UQCRC1):c.833G>A (p.Arg278His)	UQCRC1 (R278H)	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 3242192	NM_003365.3(UQCRC1):c.736G>A (p.Ala246Thr)	UQCRC1 (A246T)	Single nucleotide variant (missense variant)	Parkinsonism with polyneuropathy	GUncertain significance
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 3357995	NM_003365.3(UQCRC1):c.428-4C>G	UQCRC1	Single nucleotide variant (intron variant)	UQCRC1-related disorder	GLikely benign
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 3366876	NM_003365.3(UQCRC1):c.239G>A (p.Arg80His)	UQCRC1 (R80H)	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 2236295	NM_003365.3(UQCRC1):c.91G>A (p.Ala31Thr)	LOC129936713, UQCRC1 (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469062	NM_003365.3(UQCRC1):c.83G>T (p.Arg28Leu)	LOC129936713, UQCRC1 (R28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186876	NM_003365.3(UQCRC1):c.76C>G (p.Leu26Val)	LOC129936713, UQCRC1 (L26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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 2353635	NM_003365.3(UQCRC1):c.47T>C (p.Val16Ala)	LOC129936714, UQCRC1 (V16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607404	NM_003365.3(UQCRC1):c.38G>C (p.Gly13Ala)	LOC129936714, UQCRC1 (G13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186867	NM_003365.3(UQCRC1):c.10T>C (p.Ser4Pro)	LOC129936714, UQCRC1 (S4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186878	NM_003365.3(UQCRC1):c.8C>T (p.Ala3Val)	LOC129936714, UQCRC1 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548301	NM_003365.3(UQCRC1):c.5C>T (p.Ala2Val)	LOC129936714, UQCRC1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
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: 62