ClinVar for Gene (Select 84896) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244887	NC_000010.10:g.(?_88514773)_(89725229_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3042595	NM_001321967.2(ATAD1):c.*2A>T	ATAD1	Single nucleotide variant (3 prime UTR variant +1 more)	ATAD1-related disorder	GLikely benign
Select item 3039534	NM_001321967.2(ATAD1):c.261+9C>A	ATAD1	Single nucleotide variant (intron variant)	ATAD1-related disorder	GLikely benign
Select item 3008231	NM_001321967.2(ATAD1):c.312A>G (p.Lys104=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3007881	NM_001321967.2(ATAD1):c.383-16A>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996558	NM_001321967.2(ATAD1):c.966-15T>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990336	NM_001321967.2(ATAD1):c.988C>T (p.Pro330Ser)	ATAD1 (P330S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985239	NM_001321967.2(ATAD1):c.832-7G>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984134	NM_001321967.2(ATAD1):c.805C>T (p.Leu269=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976538	NM_001321967.2(ATAD1):c.483A>G (p.Thr161=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975713	NM_001321967.2(ATAD1):c.831+20T>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970945	NM_001321967.2(ATAD1):c.383-19A>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920386	NM_001321967.2(ATAD1):c.420G>A (p.Thr140=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859234	NM_001321967.2(ATAD1):c.129A>T (p.Pro43=)	ATAD1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2832539	NM_001321967.2(ATAD1):c.831+12A>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815667	NM_001321967.2(ATAD1):c.583+10G>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811959	NM_001321967.2(ATAD1):c.261+12T>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805819	NM_001321967.2(ATAD1):c.965+17del	ATAD1	Deletion (intron variant)	not provided	GLikely benign
Select item 2798901	NM_001321967.2(ATAD1):c.1050A>T (p.Ala350=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796558	NM_001321967.2(ATAD1):c.583+20T>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792893	NM_001321967.2(ATAD1):c.965+5G>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2792590	NM_001321967.2(ATAD1):c.294T>C (p.Asp98=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2783965	NM_001321967.2(ATAD1):c.584-12T>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777239	NM_001321967.2(ATAD1):c.873T>C (p.Thr291=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2769252	NM_001321967.2(ATAD1):c.780+10C>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769113	NM_001321967.2(ATAD1):c.396T>C (p.Tyr132=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743419	NM_001321967.2(ATAD1):c.918T>C (p.Ala306=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2718874	NM_001321967.2(ATAD1):c.1005C>T (p.Asp335=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2698273	NM_001321967.2(ATAD1):c.965+12T>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573834	NM_001321967.2(ATAD1):c.690+1G>C	ATAD1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2556679	NM_001321967.2(ATAD1):c.224G>A (p.Ser75Asn)	ATAD1 (S75N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2424128	NC_000010.10:g.(?_89468933)_(89574356_?)dup	ATAD1, PAPSS2	Duplication	not provided	GUncertain significance
Select item 2422866	NC_000010.10:g.(?_89514444)_(90537999_?)del	LIPF, ATAD1 +6 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2422865	NC_000010.10:g.(?_88428449)_(89725229_?)del	ADIRF, ADIRF-AS1 +14 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2420269	NM_001321967.2(ATAD1):c.600C>T (p.Asn200=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2296759	NM_001321967.2(ATAD1):c.395A>G (p.Tyr132Cys)	ATAD1 (Y13C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281651	NM_001321967.2(ATAD1):c.814A>T (p.Ile272Phe)	ATAD1 (I153F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264040	NM_001321967.2(ATAD1):c.970G>T (p.Asp324Tyr)	ATAD1 (D294Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2189186	NM_001321967.2(ATAD1):c.213A>G (p.Glu71=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2167888	NM_001321967.2(ATAD1):c.327A>G (p.Leu109=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2160639	NM_001321967.2(ATAD1):c.972C>T (p.Asp324=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2158229	NM_001321967.2(ATAD1):c.691-10A>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2142214	NM_001321967.2(ATAD1):c.952A>G (p.Thr318Ala)	ATAD1 (T288A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128034	NM_001321967.2(ATAD1):c.135A>G (p.Arg45=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2111838	NM_001321967.2(ATAD1):c.602G>A (p.Arg201His)	ATAD1 (R201H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2104177	NM_001321967.2(ATAD1):c.383-10T>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2102401	NM_001321967.2(ATAD1):c.558A>G (p.Pro186=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2100296	NM_001321967.2(ATAD1):c.1022A>G (p.Glu341Gly)	ATAD1 (E341G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2090251	NM_001321967.2(ATAD1):c.273T>C (p.Ser91=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2088059	NM_001321967.2(ATAD1):c.147A>G (p.Val49=)	ATAD1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2062032	NM_001321967.2(ATAD1):c.160C>G (p.Gln54Glu)	ATAD1 (Q54E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2052600	NM_001321967.2(ATAD1):c.220A>G (p.Met74Val)	ATAD1 (M74V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2049521	NM_001321967.2(ATAD1):c.796_797del (p.Glu266fs)	ATAD1 (E236fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2047211	NM_001321967.2(ATAD1):c.965+1G>T	ATAD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2044858	NM_001321967.2(ATAD1):c.453C>G (p.Gly151=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2042942	NM_001321967.2(ATAD1):c.386T>C (p.Val129Ala)	ATAD1 (V10A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038442	NM_001321967.2(ATAD1):c.544A>C (p.Ile182Leu)	ATAD1 (I63L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2034971	NM_001321967.2(ATAD1):c.372G>A (p.Gln124=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2029507	NM_001321967.2(ATAD1):c.405A>G (p.Pro135=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2027623	NM_001321967.2(ATAD1):c.382+9A>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2020995	NM_001321967.2(ATAD1):c.584-2A>G	ATAD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2020645	NM_001321967.2(ATAD1):c.647T>G (p.Phe216Cys)	ATAD1 (F216C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2020395	NM_001321967.2(ATAD1):c.318A>G (p.Thr106=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2017887	NM_001321967.2(ATAD1):c.1040del (p.Lys347fs)	ATAD1 (K317fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2013352	NM_001321967.2(ATAD1):c.415A>G (p.Lys139Glu)	ATAD1 (K139E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2011867	NM_001321967.2(ATAD1):c.1018A>C (p.Ile340Leu)	ATAD1 (I221L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2011189	NM_001321967.2(ATAD1):c.550C>T (p.Leu184=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2004519	NM_001321967.2(ATAD1):c.908_909del (p.Cys303fs)	ATAD1 (C273fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1998598	NM_001321967.2(ATAD1):c.246C>A (p.Asp82Glu)	ATAD1 (D82E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1993768	NM_001321967.2(ATAD1):c.1012C>A (p.Arg338=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1993611	NM_001321967.2(ATAD1):c.452G>A (p.Gly151Asp)	ATAD1 (G151D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991299	NM_001321967.2(ATAD1):c.1013G>A (p.Arg338Gln)	ATAD1 (R308Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1979122	NM_001321967.2(ATAD1):c.119C>T (p.Ala40Val)	ATAD1 (A40V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1976551	NM_001321967.2(ATAD1):c.354G>A (p.Glu118=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1974162	NM_001321967.2(ATAD1):c.911G>A (p.Arg304Gln)	ATAD1 (R185Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973554	NM_001321967.2(ATAD1):c.831+1G>A	ATAD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1972329	NM_001321967.2(ATAD1):c.484C>T (p.Leu162=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1970288	NM_001321967.2(ATAD1):c.419C>T (p.Thr140Met)	ATAD1 (T21M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962109	NM_001321967.2(ATAD1):c.708T>C (p.Ala236=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1960251	NM_001321967.2(ATAD1):c.363G>A (p.Arg121=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1953308	NM_001321967.2(ATAD1):c.832-9T>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948938	NM_001321967.2(ATAD1):c.163-17_163-14del	ATAD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1948885	NM_001321967.2(ATAD1):c.595C>T (p.Arg199Ter)	ATAD1 (R199* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1948718	NM_001321967.2(ATAD1):c.1055A>G (p.Gln352Arg)	ATAD1 (Q233R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945805	NM_001321967.2(ATAD1):c.1046C>T (p.Ala349Val)	ATAD1 (A319V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945684	NM_001321967.2(ATAD1):c.495G>A (p.Lys165=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943415	NM_001321967.2(ATAD1):c.688C>T (p.Gln230Ter)	ATAD1 (Q111* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1921362	NM_001321967.2(ATAD1):c.879G>A (p.Gly293=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1918943	NM_001321967.2(ATAD1):c.163-19T>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915730	NM_001321967.2(ATAD1):c.388C>G (p.Leu130Val)	ATAD1 (L11V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915375	NM_001321967.2(ATAD1):c.371A>G (p.Gln124Arg)	ATAD1 (Q124R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1910107	NM_001321967.2(ATAD1):c.985C>T (p.Arg329Trp)	ATAD1 (R210W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908640	NM_001321967.2(ATAD1):c.162+7T>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908320	NM_001321967.2(ATAD1):c.138G>A (p.Lys46=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1901190	NM_001321967.2(ATAD1):c.163-5T>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic

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