C0004135[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553892	NM_000051.4(ATM):c.-111_-109delinsAC	ATM, LOC130006700	Indel (5 prime UTR variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 550420	NM_000051.4(ATM):c.-31+595G>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 187213	NM_000051.4(ATM):c.1A>C (p.Met1Leu)	ATM (M1L)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 181942	NM_000051.4(ATM):c.1A>G (p.Met1Val)	ATM (M1V)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 187275	NM_000051.4(ATM):c.2T>C (p.Met1Thr)	ATM (M1T)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 188901	NM_000051.4(ATM):c.3G>A (p.Met1Ile)	ATM (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 185977	NM_000051.4(ATM):c.37C>T (p.Arg13Cys)	ATM (R13C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 188171	NM_000051.4(ATM):c.38G>A (p.Arg13His)	ATM (R13H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 188125	NM_000051.4(ATM):c.72+1G>A	ATM	Single nucleotide variant (splice donor variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 3025	NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	ATM (R35*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 184988	NM_000051.4(ATM):c.115A>G (p.Thr39Ala)	ATM (T39A)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 186471	NM_000051.4(ATM):c.131A>G (p.Asp44Gly)	ATM (D44G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 553685	NM_000051.4(ATM):c.153dup (p.Gly52fs)	ATM (G52fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 127341	NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	ATM (W57*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 489518	NM_000051.4(ATM):c.186-17A>G	ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GBenign
Select item 236681	NM_000051.4(ATM):c.192del (p.Leu64fs)	ATM (L64fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 135738	NM_000051.4(ATM):c.192A>G (p.Leu64=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +3 more	GBenign/Likely benign
Select item 127344	NM_000051.4(ATM):c.202A>G (p.Ile68Val)	ATM (I68V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 418022	NM_000051.4(ATM):c.210A>T (p.Lys70Asn)	ATM (K70N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 127364	NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	ATM (S99G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 453450	NM_000051.4(ATM):c.318A>C (p.Lys106Asn)	ATM (K106N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 127368	NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)	ATM (C107Y)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 487450	NM_000051.4(ATM):c.331+1G>A	ATM (S111N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 230851	NM_000051.4(ATM):c.331+5G>A	ATM	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 127373	NM_000051.4(ATM):c.370A>G (p.Ile124Val)	ATM (I124V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141037	NM_000051.4(ATM):c.378del (p.Asp126fs)	ATM (D126fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 141546	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	ATM	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 127375	NM_000051.4(ATM):c.382G>A (p.Val128Met)	ATM (V128M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 185501	NM_000051.4(ATM):c.478_482del (p.Ser160fs)	ATM (S160fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 487452	NM_000051.4(ATM):c.495_496+16del	ATM	Deletion (splice donor variant)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 140926	NM_000051.4(ATM):c.496+4T>C	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3047	NM_000051.4(ATM):c.496+5G>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 183797	NM_000051.4(ATM):c.497-4dup	ATM	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 184787	NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)	ATM (Y171*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 370683	NM_000051.4(ATM):c.588del (p.Gly197fs)	ATM (G197fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 135764	NM_000051.4(ATM):c.609C>T (p.Asp203=)	ATM	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 188895	NM_000051.4(ATM):c.640del (p.Ser214fs)	ATM (S214fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 133639	NM_000051.4(ATM):c.649A>G (p.Ile217Val)	ATM (I217V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 133640	NM_000051.4(ATM):c.659C>T (p.Ala220Val)	ATM (A220V)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 280786	NM_000051.4(ATM):c.663-2A>G	ATM	Single nucleotide variant (splice acceptor variant)	Ataxia-telangiectasia syndrome +2 more	GLikely pathogenic
Select item 449343	NM_000051.4(ATM):c.664C>T (p.Gln222Ter)	ATM (Q222*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 142096	NM_000051.4(ATM):c.692A>G (p.His231Arg)	ATM (H231R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 186210	NM_000051.4(ATM):c.712A>G (p.Ile238Val)	ATM (I238V)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 183707	NM_000051.4(ATM):c.735C>T (p.Val245=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 181913	NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	ATM (R248*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 216024	NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	ATM (R250*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 140915	NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	ATM (R250Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 231178	NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)	ATM	Microsatellite (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 219578	NM_000051.4(ATM):c.785T>A (p.Leu262Ter)	ATM (L262*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 188961	NM_000051.4(ATM):c.802C>T (p.Gln268Ter)	ATM (Q268*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 234216	NM_000051.4(ATM):c.829G>T (p.Glu277Ter)	ATM (E277*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 229794	NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	ATM (P292L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 370378	NM_000051.4(ATM):c.877A>T (p.Lys293Ter)	ATM (K293*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 186761	NM_000051.4(ATM):c.901+1G>A	ATM	Single nucleotide variant (splice donor variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 453760	NM_000051.4(ATM):c.901+6A>C	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GConflicting classifications of pathogenicity
Select item 188359	NM_000051.4(ATM):c.902G>A (p.Gly301Asp)	ATM (G301D)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 142130	NM_000051.4(ATM):c.936A>C (p.Leu312Phe)	ATM (L312F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141123	NM_000051.4(ATM):c.967A>G (p.Ile323Val)	ATM (I323V)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 135730	NM_000051.4(ATM):c.1020C>A (p.Ala340=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 133643	NM_000051.4(ATM):c.1021G>A (p.Val341Ile)	ATM (V341I)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 135731	NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	ATM (E343fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 551531	NM_000051.4(ATM):c.1065+1G>C	ATM	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 186470	NM_000051.4(ATM):c.1065+1G>T	ATM	Single nucleotide variant (splice donor variant)	Malignant tumor of breast +4 more	GPathogenic/Likely pathogenic
Select item 551605	NM_000051.4(ATM):c.1066-2A>C	ATM	Single nucleotide variant (splice acceptor variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 556302	NM_000051.4(ATM):c.1066-1G>T	ATM	Single nucleotide variant (splice acceptor variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 453353	NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)	ATM (E365*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 453354	NM_000051.4(ATM):c.1106C>T (p.Ser369Phe)	ATM (S369F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 553261	NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)	ATM (Q374*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 142140	NM_000051.4(ATM):c.1176C>G (p.Gly392=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 487449	NM_000051.4(ATM):c.1215del (p.Asn405fs)	ATM (N405fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 127332	NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	ATM (V410A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 553402	NM_000051.4(ATM):c.1235+1G>A	ATM	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 556721	NM_000051.4(ATM):c.1236-1G>A	ATM	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 557234	NM_000051.4(ATM):c.1259_1264del (p.Ile420_Ser421del)	ATM	Deletion (inframe_deletion)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 141241	NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)	ATM	Microsatellite (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 558225	NM_000051.4(ATM):c.1305del (p.Leu435fs)	ATM (L435fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 127337	NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	ATM (R447*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 185437	NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)	ATM (R451C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 219999	NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)	ATM (R457*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic
Select item 140889	NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	ATM (K468fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 186322	NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)	ATM (L480F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GUncertain significance
Select item 453367	NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)	ATM (L481*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 127338	NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	ATM (K482Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 246090	NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)	ATM (W488*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic
Select item 185509	NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)	ATM (G494D)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 189158	NM_000051.4(ATM):c.1524del (p.Gly509fs)	ATM (G509fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 127340	NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	ATM (E522fs)	Microsatellite (frameshift variant)	Seizure +6 more	GPathogenic
Select item 220555	NM_000051.4(ATM):c.1607+1G>T	ATM	Single nucleotide variant (splice donor variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 370931	NM_000051.4(ATM):c.1655del (p.Pro552fs)	ATM (P552fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 142348	NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)	ATM (R568K)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 140916	NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	ATM (R568I)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 370725	NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)	ATM (L581fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 553995	NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)	ATM (L585fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 553187	NM_000051.4(ATM):c.1754dup (p.Leu585fs)	ATM (L585fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic/Likely pathogenic
Select item 371548	NM_000051.4(ATM):c.1803-2A>G	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 371473	NM_000051.4(ATM):c.1856del (p.Asn619fs)	ATM (N619fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 232928	NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)	ATM (F627C)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GUncertain significance
Select item 141289	NM_000051.4(ATM):c.1905_1910del (p.His635_His636del)	ATM	Deletion (inframe_deletion)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 233607	NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)	ATM (S644*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 216193	NM_000051.4(ATM):c.1943T>C (p.Val648Ala)	ATM (V648A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

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