10229[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 153402	GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3	ARL6IP1, CLEC19A +24 more	Copy number gain	See cases	GUncertain significance
Select item 1267344	NC_000016.10:g.19067281del	COQ7, COQ7-DT	Deletion	not provided	GBenign
Select item 669474	NM_016138.4(COQ7):c.-357A>T	COQ7, COQ7-DT	Single nucleotide variant	not provided	GBenign
Select item 1316957	NR_119382.1(COQ7-DT):n.35A>G	COQ7, COQ7-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1316734	NC_000016.10:g.19067503G>T	COQ7, COQ7-DT	Single nucleotide variant	not provided	GLikely benign
Select item 1316733	NR_119379.1(COQ7-DT):n.82C>T	COQ7, COQ7-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 3032882	NM_016138.5(COQ7):c.-11_-7dup	COQ7, COQ7-DT +1 more	Duplication (5 prime UTR variant +1 more)	COQ7-related disorder	GUncertain significance
Select item 2584639	NM_016138.5(COQ7):c.1A>G (p.Met1Val)	COQ7, COQ7-DT +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, autosomal recessive 9	GPathogenic
Select item 2573010	NM_016138.5(COQ7):c.1A>C (p.Met1Leu)	COQ7, COQ7-DT +1 more (M1L)	Single nucleotide variant (missense variant +2 more)	Primary coenzyme Q10 deficiency 8	GLikely pathogenic
Select item 1463095	NM_016138.5(COQ7):c.3G>T (p.Met1Ile)	COQ7, COQ7-DT +1 more (M1I)	Single nucleotide variant (missense variant +2 more)	Primary coenzyme Q10 deficiency 8 +1 more	GConflicting classifications of pathogenicity
Select item 1900546	NM_016138.5(COQ7):c.8G>T (p.Cys3Phe)	COQ7, COQ7-DT +1 more (C3F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949824	NM_016138.5(COQ7):c.9C>T (p.Cys3=)	COQ7, COQ7-DT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 587429	NM_016138.5(COQ7):c.9C>A (p.Cys3Ter)	COQ7, COQ7-DT +1 more (C3*)	Single nucleotide variant (nonsense +1 more)	Primary coenzyme Q10 deficiency 8	GUncertain significance
Select item 2646273	NM_016138.5(COQ7):c.15_25del (p.Ala6fs)	COQ7, COQ7-DT +1 more (A6fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2381641	NM_016138.5(COQ7):c.13G>C (p.Gly5Arg)	COQ7, COQ7-DT +1 more (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1900547	NM_016138.5(COQ7):c.14G>T (p.Gly5Val)	COQ7, COQ7-DT +1 more (G5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1282807	NM_016138.5(COQ7):c.15GGC[5] (p.Ala9dup)	COQ7, COQ7-DT +1 more	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 2008503	NM_016138.5(COQ7):c.15GGC[3] (p.Ala9del)	COQ7, COQ7-DT +1 more (A9del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2491599	NM_016138.5(COQ7):c.17C>T (p.Ala6Val)	COQ7, COQ7-DT +1 more (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1498446	NM_016138.5(COQ7):c.17_18delinsAA (p.Ala6Glu)	COQ7, COQ7-DT +1 more (A6E)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2584462	NM_016138.5(COQ7):c.28_44dup (p.Arg16fs)	COQ7, COQ7-DT +1 more (R16fs)	Duplication (frameshift variant +1 more)	Primary coenzyme Q10 deficiency 8	GLikely pathogenic
Select item 1479935	NM_016138.5(COQ7):c.20C>T (p.Ala7Val)	COQ7, COQ7-DT +1 more (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371564	NM_016138.5(COQ7):c.20C>G (p.Ala7Gly)	COQ7, COQ7-DT +1 more (A7G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943280	NM_016138.5(COQ7):c.23C>T (p.Ala8Val)	COQ7, COQ7-DT +1 more (A8V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1481493	NM_016138.5(COQ7):c.25G>C (p.Ala9Pro)	COQ7, COQ7-DT +1 more (A9P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967613	NM_016138.5(COQ7):c.43C>T (p.Leu15=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937140	NM_016138.5(COQ7):c.47G>T (p.Arg16Leu)	COQ7, LOC130058587 (R16L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1268907	NM_016138.5(COQ7):c.50C>T (p.Pro17Leu)	COQ7, LOC130058587 (P17L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 669700	NM_016138.5(COQ7):c.51G>A (p.Pro17=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1524273	NM_016138.5(COQ7):c.53G>C (p.Gly18Ala)	COQ7, LOC130058587 (G18A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1439639	NM_016138.5(COQ7):c.53G>A (p.Gly18Glu)	COQ7, LOC130058587 (G18E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000292	NM_016138.5(COQ7):c.54G>C (p.Gly18=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1938844	NM_016138.5(COQ7):c.55G>T (p.Ala19Ser)	COQ7, LOC130058587 (A19S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1922661	NM_016138.5(COQ7):c.55G>A (p.Ala19Thr)	COQ7, LOC130058587 (A19T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2735231	NM_016138.5(COQ7):c.58C>A (p.Arg20=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117567	NM_016138.5(COQ7):c.60G>T (p.Arg20=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1973243	NM_016138.5(COQ7):c.65C>T (p.Ser22Phe)	COQ7, LOC130058587 (S22F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2097666	NM_016138.5(COQ7):c.66C>T (p.Ser22=)	COQ7, LOC130058587	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1906391	NM_016138.5(COQ7):c.72A>C (p.Ser24=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2066947	NM_016138.5(COQ7):c.73+1G>A	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1470281	NM_016138.5(COQ7):c.73+2T>A	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1388541	NM_016138.5(COQ7):c.73+5A>G	COQ7, LOC130058587	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2847479	NM_016138.5(COQ7):c.73+7G>A	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2834230	NM_016138.5(COQ7):c.73+9A>G	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2134059	NM_016138.5(COQ7):c.73+13G>A	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2015966	NM_016138.5(COQ7):c.73+13G>C	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1904428	NM_016138.5(COQ7):c.73+16C>T	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 683572	NM_016138.5(COQ7):c.73+36T>G	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2575730	NM_016138.5(COQ7):c.73+83_73+97del	COQ7, LOC130058588	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 669701	NM_016138.5(COQ7):c.73+111C>A	COQ7, LOC130058588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683574	NM_016138.5(COQ7):c.74-215G>A	COQ7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316640	NM_016138.5(COQ7):c.74-30C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683575	NM_016138.5(COQ7):c.74-29A>G	COQ7	Single nucleotide variant (intron variant)	Primary coenzyme Q10 deficiency 8 +1 more	GBenign
Select item 2861403	NM_016138.5(COQ7):c.74-14C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067651	NM_016138.5(COQ7):c.90C>G (p.Thr30=)	COQ7	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1373108	NM_016138.5(COQ7):c.104G>A (p.Arg35His)	COQ7 (R35H +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 1443799	NM_016138.5(COQ7):c.107G>C (p.Ser36Thr)	COQ7 (S22T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1347569	NM_016138.5(COQ7):c.107G>T (p.Ser36Ile)	COQ7 (S22I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1974005	NM_016138.5(COQ7):c.118A>G (p.Thr40Ala)	COQ7 (T2A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2096701	NM_016138.5(COQ7):c.121_122del (p.Leu41fs)	COQ7 (L27fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 788901	NM_016138.5(COQ7):c.124G>C (p.Asp42His)	COQ7 (D42H +2 more)	Single nucleotide variant (missense variant +1 more)	COQ7-related disorder +1 more	GBenign
Select item 2837571	NM_016138.5(COQ7):c.128A>G (p.Asn43Ser)	COQ7 (N29S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 445350	NM_016138.5(COQ7):c.136C>T (p.Arg46Trp)	COQ7 (R46W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2067383	NM_016138.5(COQ7):c.137G>A (p.Arg46Gln)	COQ7 (R32Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2855695	NM_016138.5(COQ7):c.138G>A (p.Arg46=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1493570	NM_016138.5(COQ7):c.151C>T (p.Arg51Ter)	COQ7 (R37* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2580230	NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)	COQ7 (R16W +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GUncertain significance
Select item 587428	NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)	COQ7 (R54Q +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8 +1 more	GUncertain significance
Select item 1433693	NM_016138.5(COQ7):c.163G>C (p.Val55Leu)	COQ7 (V17L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1629482	NM_016138.5(COQ7):c.171T>C (p.His57=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906504	NM_016138.5(COQ7):c.177C>T (p.Gly59=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1521009	NM_016138.5(COQ7):c.178G>A (p.Glu60Lys)	COQ7 (E46K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093989	NM_016138.5(COQ7):c.182A>G (p.Tyr61Cys)	COQ7 (Y23C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 798583	NM_016138.5(COQ7):c.183T>C (p.Tyr61=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1378917	NM_016138.5(COQ7):c.187G>C (p.Ala63Pro)	COQ7 (A25P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014336	NM_016138.5(COQ7):c.192C>T (p.Asn64=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1460625	NM_016138.5(COQ7):c.193C>T (p.Arg65Cys)	COQ7 (R51C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1421116	NM_016138.5(COQ7):c.197T>A (p.Ile66Asn)	COQ7 (I52N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908021	NM_016138.5(COQ7):c.200A>G (p.Tyr67Cys)	COQ7 (Y53C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1496710	NM_016138.5(COQ7):c.200A>C (p.Tyr67Ser)	COQ7 (Y67S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1952416	NM_016138.5(COQ7):c.203C>G (p.Ala68Gly)	COQ7 (A68G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953790	NM_016138.5(COQ7):c.204C>T (p.Ala68=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2585135	NM_016138.5(COQ7):c.218T>A (p.Val73Asp)	COQ7 (V59D +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GUncertain significance
Select item 2897178	NM_016138.5(COQ7):c.219C>G (p.Val73=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2024330	NM_016138.5(COQ7):c.219C>A (p.Val73=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1716337	NM_016138.5(COQ7):c.223G>T (p.Gly75Cys)	COQ7 (G37C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419348	NM_016138.5(COQ7):c.226C>T (p.Arg76Trp)	COQ7 (R38W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987145	NM_016138.5(COQ7):c.227G>A (p.Arg76Gln)	COQ7 (R76Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 785525	NM_016138.5(COQ7):c.234C>T (p.Ser78=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 789830	NM_016138.5(COQ7):c.235G>A (p.Val79Ile)	COQ7 (V79I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1406990	NM_016138.5(COQ7):c.238G>T (p.Gly80Trp)	COQ7 (G42W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1380417	NM_016138.5(COQ7):c.238G>A (p.Gly80Arg)	COQ7 (G80R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962488	NM_016138.5(COQ7):c.245del (p.Val82fs)	COQ7 (V68fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2174563	NM_016138.5(COQ7):c.252+10T>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638540	NM_016138.5(COQ7):c.252+17C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923843	NM_016138.5(COQ7):c.252+18T>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683576	NM_016138.5(COQ7):c.252+121C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674115	NM_016138.5(COQ7):c.252+147G>A	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign

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