ClinVar for Gene (Select 219293) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366432	NC_000001.10:g.(?_1385068)_(1405544_?)del	ATAD3C	Deletion	not specified	GLikely benign
Select item 3320073	NM_001039211.3(ATAD3C):c.709G>A (p.Glu237Lys)	ATAD3C (E237K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320061	NM_001039211.3(ATAD3C):c.539G>C (p.Gly180Ala)	ATAD3C (G180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320051	NM_001039211.3(ATAD3C):c.364C>T (p.Arg122Trp)	ATAD3C (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320041	NM_001039211.3(ATAD3C):c.893T>G (p.Phe298Cys)	ATAD3C (F298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320032	NM_001039211.3(ATAD3C):c.862A>G (p.Ile288Val)	ATAD3C (I288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320022	NM_001039211.3(ATAD3C):c.1199A>G (p.Glu400Gly)	ATAD3C (E400G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320016	NM_001039211.3(ATAD3C):c.1195G>A (p.Gly399Arg)	ATAD3C (G399R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320011	NM_001039211.3(ATAD3C):c.1066G>A (p.Ala356Thr)	ATAD3C (A356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320000	NM_001039211.3(ATAD3C):c.1078G>A (p.Val360Met)	ATAD3C (V360M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257654	NM_001039211.3(ATAD3C):c.815T>G (p.Phe272Cys)	ATAD3C (F272C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3247908	NC_000001.10:g.(?_1284256)_(1475190_?)dup	DVL1, MRPL20 +10 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3130732	NM_001039211.3(ATAD3C):c.978G>T (p.Lys326Asn)	ATAD3C (K326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130731	NM_001039211.3(ATAD3C):c.790C>T (p.Arg264Cys)	ATAD3C (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130729	NM_001039211.3(ATAD3C):c.655A>G (p.Lys219Glu)	ATAD3C (K219E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130728	NM_001039211.3(ATAD3C):c.638G>A (p.Gly213Asp)	ATAD3C (G213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130727	NM_001039211.3(ATAD3C):c.632G>A (p.Arg211Gln)	ATAD3C (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130726	NM_001039211.3(ATAD3C):c.539G>T (p.Gly180Val)	ATAD3C (G180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130725	NM_001039211.3(ATAD3C):c.529G>A (p.Gly177Arg)	ATAD3C (G177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130724	NM_001039211.3(ATAD3C):c.514C>A (p.His172Asn)	ATAD3C (H172N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130723	NM_001039211.3(ATAD3C):c.500G>A (p.Arg167Gln)	ATAD3C (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130722	NM_001039211.3(ATAD3C):c.392G>A (p.Arg131Gln)	ATAD3C (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130721	NM_001039211.3(ATAD3C):c.272C>A (p.Ala91Glu)	ATAD3C (A91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130720	NM_001039211.3(ATAD3C):c.221C>G (p.Thr74Arg)	ATAD3C (T74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130719	NM_001039211.3(ATAD3C):c.1200G>T (p.Glu400Asp)	ATAD3C (E400D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130717	NM_001039211.3(ATAD3C):c.1126G>A (p.Glu376Lys)	ATAD3C (E376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130716	NM_001039211.3(ATAD3C):c.1058G>A (p.Arg353Gln)	ATAD3C (R353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3024570	GRCh37/hg19 1p36.33(chr1:1386064-1431197)x0	ATAD3B, ATAD3C	Copy number loss	not provided	GLikely benign
Select item 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638013	NM_001039211.3(ATAD3C):c.1090-8C>T	ATAD3C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638012	NM_001039211.3(ATAD3C):c.149T>A (p.Ile50Asn)	ATAD3C (I50N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616588	NM_001039211.3(ATAD3C):c.1103C>T (p.Ala368Val)	ATAD3C (A368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613683	NM_001039211.3(ATAD3C):c.1190T>G (p.Leu397Arg)	ATAD3C (L397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607998	NM_001039211.3(ATAD3C):c.440C>G (p.Pro147Arg)	ATAD3C (P147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603403	NM_001039211.3(ATAD3C):c.682C>T (p.Arg228Trp)	ATAD3C (R228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597706	NM_001039211.3(ATAD3C):c.794C>T (p.Thr265Met)	ATAD3C (T265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2552247	NM_001039211.3(ATAD3C):c.917G>A (p.Arg306Gln)	ATAD3C (R306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535258	NM_001039211.3(ATAD3C):c.829G>A (p.Ala277Thr)	ATAD3C (A277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533523	NM_001039211.3(ATAD3C):c.499C>T (p.Arg167Trp)	ATAD3C (R167W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530835	NM_001039211.3(ATAD3C):c.1148T>C (p.Val383Ala)	ATAD3C (V383A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517831	NM_001039211.3(ATAD3C):c.295A>G (p.Ile99Val)	ATAD3C (I99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2485809	NM_001039211.3(ATAD3C):c.104A>C (p.Gln35Pro)	ATAD3C (Q35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465863	NM_001039211.3(ATAD3C):c.301G>A (p.Ala101Thr)	ATAD3C (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461978	NM_001039211.3(ATAD3C):c.1184G>A (p.Arg395His)	ATAD3C (R395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458687	NM_001039211.3(ATAD3C):c.488T>C (p.Ile163Thr)	ATAD3C (I163T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456759	NM_001039211.3(ATAD3C):c.469G>A (p.Ala157Thr)	ATAD3C (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405539	NM_001039211.3(ATAD3C):c.460C>T (p.Arg154Cys)	ATAD3C (R154C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2397393	NM_001039211.3(ATAD3C):c.304C>T (p.Arg102Trp)	ATAD3C (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393293	NM_001039211.3(ATAD3C):c.979C>T (p.Arg327Trp)	ATAD3C (R327W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388038	NM_001039211.3(ATAD3C):c.923G>A (p.Arg308His)	ATAD3C (R308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386963	NM_001039211.3(ATAD3C):c.134C>T (p.Thr45Ile)	ATAD3C (T45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386306	NM_001039211.3(ATAD3C):c.631C>T (p.Arg211Trp)	ATAD3C (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363121	NM_001039211.3(ATAD3C):c.544G>A (p.Gly182Arg)	ATAD3C (G182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359091	NM_001039211.3(ATAD3C):c.683G>A (p.Arg228Gln)	ATAD3C (R228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355930	NM_001039211.3(ATAD3C):c.197C>G (p.Thr66Arg)	ATAD3C (T66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344134	NM_001039211.3(ATAD3C):c.1127A>C (p.Glu376Ala)	ATAD3C (E376A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343523	NM_001039211.3(ATAD3C):c.389G>A (p.Arg130Gln)	ATAD3C (R130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341814	NM_001039211.3(ATAD3C):c.98G>A (p.Arg33Gln)	ATAD3C (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339932	NM_001039211.3(ATAD3C):c.67A>G (p.Lys23Glu)	ATAD3C (K23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318543	NM_001039211.3(ATAD3C):c.922C>T (p.Arg308Cys)	ATAD3C (R308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304949	NM_001039211.3(ATAD3C):c.275C>T (p.Thr92Ile)	ATAD3C (T92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284400	NM_001039211.3(ATAD3C):c.920C>T (p.Ala307Val)	ATAD3C (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262289	NM_001039211.3(ATAD3C):c.836G>A (p.Cys279Tyr)	ATAD3C (C279Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259710	NM_001039211.3(ATAD3C):c.1226C>A (p.Pro409His)	ATAD3C (P409H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255551	NM_001039211.3(ATAD3C):c.895G>A (p.Asp299Asn)	ATAD3C (D299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242999	NM_001039211.3(ATAD3C):c.491A>G (p.Lys164Arg)	ATAD3C (K164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216823	NM_001039211.3(ATAD3C):c.413A>G (p.Asp138Gly)	ATAD3C (D138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214051	NM_001039211.3(ATAD3C):c.718G>A (p.Ala240Thr)	ATAD3C (A240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809089	GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3	ACAP3, ANKRD65 +43 more	Copy number gain	not provided	GUncertain significance
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807780	GRCh37/hg19 1p36.33-36.32(chr1:1335011-2302755)x1	ANKRD65, ATAD3A +24 more	Copy number loss	not provided	GPathogenic
Select item 1807723	GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	ACAP3, ACTRT2 +63 more	Copy number loss	not provided	GPathogenic
Select item 1706500	GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	ACAP3, AGRN +60 more	Copy number loss	See cases	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703628	GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	ACAP3, ACTRT2 +76 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1703627	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	TNFRSF18, TNFRSF4 +77 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1690641	Single allele	ATAD3A, ATAD3B +1 more	Duplication	ATAD3 gene cluster related condition	GUncertain significance
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1449306	NC_000001.10:g.(?_989123)_(3160711_?)del	MIR429, MMEL1 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1443760	NC_000001.10:g.(?_955553)_(3350375_?)del	AGRN, ANKRD65 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1412663	NC_000001.10:g.(?_861322)_(3768971_?)del	ATAD3A, ACAP3 +74 more	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341246	GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	ACAP3, AGRN +62 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 1253304	NM_001039211.3(ATAD3C):c.272C>T (p.Ala91Val)	ATAD3C (A91V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 992492	Single allele	ATAD3A, ATAD3B +1 more	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 988904	GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	TMEM88B, TNFRSF18 +45 more	Copy number loss	not provided	GPathogenic
Select item 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic

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