ATAD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	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 1641065	NM_001321967.2(ATAD1):c.1071T>C (p.His357=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 545496	NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs)	ATAD1 (H238fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 1486458	NM_001321967.2(ATAD1):c.1055A>C (p.Gln352Pro)	ATAD1 (Q233P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 2017887	NM_001321967.2(ATAD1):c.1040del (p.Lys347fs)	ATAD1 (K317fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 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 1415548	NM_001321967.2(ATAD1):c.1016C>T (p.Ala339Val)	ATAD1 (A220V +2 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 1993768	NM_001321967.2(ATAD1):c.1012C>A (p.Arg338=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1376616	NM_001321967.2(ATAD1):c.1012C>T (p.Arg338Trp)	ATAD1 (R219W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1568365	NM_001321967.2(ATAD1):c.987G>T (p.Arg329=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1535309	NM_001321967.2(ATAD1):c.984T>C (p.Ile328=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409365	NM_001321967.2(ATAD1):c.973G>A (p.Glu325Lys)	ATAD1 (E295K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1660725	NM_001321967.2(ATAD1):c.966-13G>C	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 2805819	NM_001321967.2(ATAD1):c.965+17del	ATAD1	Deletion (intron variant)	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 2792893	NM_001321967.2(ATAD1):c.965+5G>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1375027	NM_001321967.2(ATAD1):c.965+3A>G	ATAD1	Single nucleotide variant (intron variant)	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 1510140	NM_001321967.2(ATAD1):c.953C>T (p.Thr318Ile)	ATAD1 (T199I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2743419	NM_001321967.2(ATAD1):c.918T>C (p.Ala306=)	ATAD1	Single nucleotide variant (synonymous variant +1 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 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 1921362	NM_001321967.2(ATAD1):c.879G>A (p.Gly293=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	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 1515208	NM_001321967.2(ATAD1):c.868G>A (p.Glu290Lys)	ATAD1 (E260K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1482588	NM_001321967.2(ATAD1):c.860T>C (p.Val287Ala)	ATAD1 (V287A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3367637	NM_001321967.2(ATAD1):c.842A>C (p.His281Pro)	ATAD1 (H162P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1531311	NM_001321967.2(ATAD1):c.837T>C (p.Asp279=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985239	NM_001321967.2(ATAD1):c.832-7G>A	ATAD1	Single nucleotide variant (intron variant)	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 2975713	NM_001321967.2(ATAD1):c.831+20T>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608487	NM_001321967.2(ATAD1):c.831+16_831+18del	ATAD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1549977	NM_001321967.2(ATAD1):c.831+17A>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566147	NM_001321967.2(ATAD1):c.831+15A>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640183	NM_001321967.2(ATAD1):c.831+14A>G	ATAD1	Single nucleotide variant (intron variant)	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 1973554	NM_001321967.2(ATAD1):c.831+1G>A	ATAD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 545495	NM_001321967.2(ATAD1):c.826G>T (p.Glu276Ter)	ATAD1 (E276* +2 more)	Single nucleotide variant (nonsense +1 more)	Hyperekplexia 4 +1 more	GPathogenic/Likely pathogenic
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 2984134	NM_001321967.2(ATAD1):c.805C>T (p.Leu269=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1355700	NM_001321967.2(ATAD1):c.794_797del (p.Arg265fs)	ATAD1 (R265fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1467762	NM_001321967.2(ATAD1):c.781G>A (p.Ala261Thr)	ATAD1 (A261T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1546492	NM_001321967.2(ATAD1):c.780+18A>T	ATAD1	Single nucleotide variant (intron variant)	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 1605669	NM_001321967.2(ATAD1):c.780T>A (p.Pro260=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1395958	NM_001321967.2(ATAD1):c.778C>G (p.Pro260Ala)	ATAD1 (P141A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1345074	NM_001321967.2(ATAD1):c.770T>G (p.Ile257Ser)	ATAD1 (I257S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1496458	NM_001321967.2(ATAD1):c.767A>T (p.His256Leu)	ATAD1 (H137L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1366275	NM_001321967.2(ATAD1):c.765T>A (p.Phe255Leu)	ATAD1 (F136L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1477644	NM_001321967.2(ATAD1):c.743T>G (p.Met248Arg)	ATAD1 (M248R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1629009	NM_001321967.2(ATAD1):c.735G>A (p.Ser245=)	ATAD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1440834	NM_001321967.2(ATAD1):c.734C>T (p.Ser245Leu)	ATAD1 (S126L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1359010	NM_001321967.2(ATAD1):c.716G>A (p.Arg239His)	ATAD1 (R120H +1 more)	Single nucleotide variant (missense variant +2 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 2158229	NM_001321967.2(ATAD1):c.691-10A>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623832	NM_001321967.2(ATAD1):c.691-11T>C	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1555066	NM_001321967.2(ATAD1):c.691-14C>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636902	NM_001321967.2(ATAD1):c.690+11A>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585132	NM_001321967.2(ATAD1):c.690+7G>T	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2573834	NM_001321967.2(ATAD1):c.690+1G>C	ATAD1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 1489170	NM_001321967.2(ATAD1):c.679C>A (p.His227Asn)	ATAD1 (H227N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522566	NM_001321967.2(ATAD1):c.671A>G (p.Asp224Gly)	ATAD1 (D105G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601366	NM_001321967.2(ATAD1):c.657C>G (p.Leu219=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	Hyperekplexia 4 +1 more	GBenign/Likely benign
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 1608154	NM_001321967.2(ATAD1):c.630C>T (p.Ala210=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2420269	NM_001321967.2(ATAD1):c.600C>T (p.Asn200=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	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 1629112	NM_001321967.2(ATAD1):c.594A>G (p.Leu198=)	ATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2020995	NM_001321967.2(ATAD1):c.584-2A>G	ATAD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1576886	NM_001321967.2(ATAD1):c.584-8A>G	ATAD1	Single nucleotide variant (intron variant)	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 2796558	NM_001321967.2(ATAD1):c.583+20T>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560436	NM_001321967.2(ATAD1):c.583+12T>C	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 1543785	NM_001321967.2(ATAD1):c.583+8A>G	ATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1379177	NM_001321967.2(ATAD1):c.583+6C>A	ATAD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1350673	NM_001321967.2(ATAD1):c.553C>G (p.Gln185Glu)	ATAD1 (Q185E +1 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 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 1462766	NM_001321967.2(ATAD1):c.544A>G (p.Ile182Val)	ATAD1 (I182V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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