4595[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 30441	NM_001128425.1(MUTYH):c.348+33_*210delinsTA	MUTYH	Indel (genic downstream transcript variant)	Familial adenomatous polyposis 2	GPathogenic
Select item 417585	NC_000001.10:g.(?_45794914)_(45800183_?)dup	MUTYH	Duplication	Familial adenomatous polyposis 2	GUncertain significance
Select item 297466	NM_001048174.2(MUTYH):c.*34GTT[1]	MUTYH	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 923209	NM_001048174.2(MUTYH):c.*19T>C	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2575391	NM_001048174.2(MUTYH):c.8_18del	MUTYH	Deletion (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 631444	NM_001048174.2(MUTYH):c.*17del	MUTYH	Deletion (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 627723	NM_001048174.2(MUTYH):c.*15C>T	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 639376	NC_000001.11:g.(?_45329296)_(45333334_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 583503	NC_000001.10:g.(?_45794968)_(45805936_?)dup	MUTYH, TOE1	Duplication	Familial adenomatous polyposis 2	GUncertain significance
Select item 925382	NM_001048174.2(MUTYH):c.*7T>A	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 533333	NC_000001.11:g.(?_45329300)_(45333609_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 464672	NC_000001.11:g.(?_45329300)_(45330563_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 479982	NM_001048174.2(MUTYH):c.*4C>G	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 229745	NM_001048174.2(MUTYH):c.*3C>A	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1050536	NM_001048174.2(MUTYH):c.1393-51_*2del	MUTYH	Deletion (splice acceptor variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 437842	NC_000001.11:g.(?_45329306)_(45333324_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 819745	NM_001048174.2(MUTYH):c.1565G>C (p.Ter522Ser)	MUTYH	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2102618	NM_001048174.2(MUTYH):c.1563G>A (p.Gln521=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2710233	NM_001048174.2(MUTYH):c.1562A>C (p.Gln521Pro)	MUTYH (Q507P +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 998147	NM_001048174.2(MUTYH):c.1562del (p.Gln521fs)	MUTYH (Q406fs +7 more)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 1777140	NM_001048174.2(MUTYH):c.1561del (p.Gln521fs)	MUTYH (Q522fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 819718	NM_001048174.2(MUTYH):c.1561C>A (p.Gln521Lys)	MUTYH (Q406K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 406862	NM_001048174.2(MUTYH):c.1561C>T (p.Gln521Ter)	MUTYH (Q549* +7 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 1777110	NM_001048174.2(MUTYH):c.1560C>T (p.Ala520=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1644833	NM_001048174.2(MUTYH):c.1560C>A (p.Ala520=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 819730	NM_001048174.2(MUTYH):c.1557A>T (p.Ala519=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 1036120	NM_001048174.2(MUTYH):c.1556C>A (p.Ala519Glu)	MUTYH (A544E +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 481812	NM_001048174.2(MUTYH):c.1556C>T (p.Ala519Val)	MUTYH (A547V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 127843	NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)	MUTYH (A520fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 926454	NM_001048174.2(MUTYH):c.1555G>A (p.Ala519Thr)	MUTYH (A427T +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 926388	NM_001048174.2(MUTYH):c.1554T>C (p.Ser518=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 533307	NM_001048174.2(MUTYH):c.1554T>G (p.Ser518Arg)	MUTYH (S546R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1499354	NM_001048174.2(MUTYH):c.1553G>C (p.Ser518Thr)	MUTYH (S426T +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1376959	NM_001048174.2(MUTYH):c.1553G>A (p.Ser518Asn)	MUTYH (S518N +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 967459	NM_001048174.2(MUTYH):c.1552dup (p.Ser518fs)	MUTYH (S403fs +7 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 480010	NM_001048174.2(MUTYH):c.1552A>G (p.Ser518Gly)	MUTYH (S546G +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 3074711	NM_001048174.2(MUTYH):c.1551C>T (p.Asn517=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 2773675	NM_001048174.2(MUTYH):c.1550A>T (p.Asn517Ile)	MUTYH (N402I +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1776889	NM_001048174.2(MUTYH):c.1550A>G (p.Asn517Ser)	MUTYH (N425S +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 1354412	NM_001048174.2(MUTYH):c.1549A>G (p.Asn517Asp)	MUTYH (N518D +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2083052	NM_001048174.2(MUTYH):c.1548C>T (p.Leu516=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 1446095	NM_001048174.2(MUTYH):c.1546C>G (p.Leu516Val)	MUTYH (L516V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1383119	NM_001048174.2(MUTYH):c.1546C>T (p.Leu516Phe)	MUTYH (L531F +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 702461	NM_001048174.2(MUTYH):c.1545C>T (p.Ser515=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 483902	NM_001048174.2(MUTYH):c.1544G>A (p.Ser515Asn)	MUTYH (S543N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 464706	NM_001048174.2(MUTYH):c.1542C>T (p.His514=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 3071271	NM_001048174.2(MUTYH):c.1541A>G (p.His514Arg)	MUTYH (H399R +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2567646	NM_001048174.2(MUTYH):c.1540C>G (p.His514Asp)	MUTYH (H399D +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1801568	NM_001048174.2(MUTYH):c.1536_1539dup (p.His514fs)	MUTYH (H399fs +7 more)	Duplication (frameshift variant +1 more)	Gastric cancer	GPathogenic
Select item 490035	NM_001048174.2(MUTYH):c.1540C>T (p.His514Tyr)	MUTYH (H542Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1809568	NM_001048174.2(MUTYH):c.1539A>G (p.Ala513=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GConflicting classifications of pathogenicity
Select item 1005301	NM_001048174.2(MUTYH):c.1538C>G (p.Ala513Gly)	MUTYH (A398G +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 464705	NM_001048174.2(MUTYH):c.1538C>A (p.Ala513Glu)	MUTYH (A541E +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 185177	NM_001048174.2(MUTYH):c.1538C>T (p.Ala513Val)	MUTYH (A541V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 1776621	NM_001048174.2(MUTYH):c.1537G>A (p.Ala513Thr)	MUTYH (A398T +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 919530	NM_001048174.2(MUTYH):c.1537del (p.Ala513fs)	MUTYH (A398fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 861057	NM_001048174.2(MUTYH):c.1536T>G (p.Asp512Glu)	MUTYH (D397E +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 819692	NM_001048174.2(MUTYH):c.1536T>C (p.Asp512=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 492027	NM_001048174.2(MUTYH):c.1534G>A (p.Asp512Asn)	MUTYH (D540N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 184193	NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 418929	NM_001048174.2(MUTYH):c.1531A>G (p.Thr511Ala)	MUTYH (T539A +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2453347	NM_001048174.2(MUTYH):c.1528_1530del (p.Ser510del)	MUTYH (S496del +12 more)	Deletion (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1157360	NM_001048174.2(MUTYH):c.1530C>T (p.Ser510=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 1955122	NM_001048174.2(MUTYH):c.1529C>T (p.Ser510Phe)	MUTYH (S418F +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2157755	NM_001048174.2(MUTYH):c.1528T>C (p.Ser510Pro)	MUTYH (S521P +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2978159	NM_001048174.2(MUTYH):c.1527C>T (p.Ile509=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 819663	NM_001048174.2(MUTYH):c.1527C>A (p.Ile509=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 2190107	NM_001048174.2(MUTYH):c.1526T>A (p.Ile509Asn)	MUTYH (I496N +12 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 917668	NM_001048174.2(MUTYH):c.1525A>C (p.Ile509Leu)	MUTYH (I524L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 479985	NM_001048174.2(MUTYH):c.1525A>G (p.Ile509Val)	MUTYH (I537V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 392421	NM_001048174.2(MUTYH):c.1524C>T (p.His508=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	MUTYH-related disorder +3 more	GLikely benign
Select item 923656	NM_001048174.2(MUTYH):c.1522C>T (p.His508Tyr)	MUTYH (H508Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1776273	NM_001048174.2(MUTYH):c.1521T>C (p.Ser507=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 1776271	NM_001048174.2(MUTYH):c.1521T>A (p.Ser507=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 2567641	NM_001048174.2(MUTYH):c.1520C>T (p.Ser507Phe)	MUTYH (S493F +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 420317	NM_001048174.2(MUTYH):c.1472_1520del (p.Arg491fs)	MUTYH (R491fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1513611	NM_001048174.2(MUTYH):c.1519T>A (p.Ser507Thr)	MUTYH (S392T +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1499605	NM_001048174.2(MUTYH):c.1519T>G (p.Ser507Ala)	MUTYH (S518A +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 1663474	NM_001048174.2(MUTYH):c.1518G>T (p.Arg506=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 1172889	NM_001048174.2(MUTYH):c.1518G>A (p.Arg506=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 795824	NM_001048174.2(MUTYH):c.1518G>C (p.Arg506=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GLikely benign
Select item 819646	NM_001048174.2(MUTYH):c.1517G>C (p.Arg506Pro)	MUTYH (R391P +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 41757	NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	MUTYH (R534Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 2676894	NM_001048174.2(MUTYH):c.1516del (p.Arg506fs)	MUTYH (R391fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 184712	NM_001048174.2(MUTYH):c.1516C>A (p.Arg506=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 127842	NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp)	MUTYH (R534W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 584584	NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu)	MUTYH (F533L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2088231	NM_001048174.2(MUTYH):c.1435-84_1512del	MUTYH	Deletion (splice acceptor variant)	Familial adenomatous polyposis 2	GUncertain significance
Select item 492026	NM_001048174.2(MUTYH):c.1512C>T (p.Phe504=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 231635	NM_001048174.2(MUTYH):c.1512C>A (p.Phe504Leu)	MUTYH (F532L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 1776004	NM_001048174.2(MUTYH):c.1511T>C (p.Phe504Ser)	MUTYH (F490S +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 630872	NM_001048174.2(MUTYH):c.1507_1509del (p.Asn503del)	MUTYH (N388del +7 more)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231253	NM_001048174.2(MUTYH):c.1509T>C (p.Asn503=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 483926	NM_001048174.2(MUTYH):c.1505A>C (p.Asp502Ala)	MUTYH (D530A +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 186948	NM_001048174.2(MUTYH):c.1504G>C (p.Asp502His)	MUTYH (D530H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 182685	NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)	MUTYH (D530Y +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 760120	NM_001048174.2(MUTYH):c.1503G>A (p.Leu501=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 483921	NM_001048174.2(MUTYH):c.1501del (p.Leu501fs)	MUTYH (L386fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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