RECQL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 1707879	NC_000012.12:g.21468736AGA[1]	PYROXD1, RECQL (E237del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1275426	NM_024854.5(PYROXD1):c.*203T>C	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1292479	NM_002907.4(RECQL):c.*433T>C	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1182600	NM_002907.4(RECQL):c.*382G>A	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1223508	NM_002907.4(RECQL):c.*306A>G	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1237151	NM_002907.4(RECQL):c.*201A>G	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1201812	NM_002907.4(RECQL):c.*192T>C	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1242890	NM_002907.4(RECQL):c.*6A>C	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1219632	NM_002907.4(RECQL):c.*1T>G	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1123459	NM_002907.4(RECQL):c.1949G>A (p.Ter650=)	RECQL, PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1996471	NM_002907.4(RECQL):c.1947C>G (p.Ala649=)	RECQL, PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3313530	NM_002907.4(RECQL):c.1944T>A (p.Asp648Glu)	PYROXD1, RECQL (D648E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1783108	NM_002907.4(RECQL):c.1944T>C (p.Asp648=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1011683	NM_002907.4(RECQL):c.1939G>A (p.Asp647Asn)	PYROXD1, RECQL (D647N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1159269	NM_002907.4(RECQL):c.1938C>T (p.Ile646=)	RECQL, PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1782967	NM_002907.4(RECQL):c.1936dup (p.Ile646fs)	PYROXD1, RECQL (I646fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1310836	NM_002907.4(RECQL):c.1931_1936del (p.Arg644_Lys645del)	PYROXD1, RECQL	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 1782896	NM_002907.4(RECQL):c.1931G>T (p.Arg644Ile)	PYROXD1, RECQL (R644I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1040290	NM_002907.4(RECQL):c.1930A>G (p.Arg644Gly)	PYROXD1, RECQL (R644G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2585998	NM_002907.4(RECQL):c.1922C>G (p.Ala641Gly)	PYROXD1, RECQL (A641G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 967492	NM_002907.4(RECQL):c.1922C>T (p.Ala641Val)	PYROXD1, RECQL (A641V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1568990	NM_002907.4(RECQL):c.1920A>C (p.Gly640=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1782622	NM_002907.4(RECQL):c.1919G>A (p.Gly640Glu)	PYROXD1, RECQL (G640E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2586011	NM_002907.4(RECQL):c.1918G>A (p.Gly640Arg)	PYROXD1, RECQL (G640R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2710098	NM_002907.4(RECQL):c.1916C>A (p.Thr639Lys)	PYROXD1, RECQL (T639K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1898604	NM_002907.4(RECQL):c.1913A>T (p.Asn638Ile)	PYROXD1, RECQL (N638I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3222960	NM_002907.4(RECQL):c.1907C>T (p.Ser636Phe)	PYROXD1, RECQL (S636F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 852628	NM_002907.4(RECQL):c.1906T>G (p.Ser636Ala)	PYROXD1, RECQL (S636A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1782351	NM_002907.4(RECQL):c.1903G>T (p.Gly635Cys)	PYROXD1, RECQL (G635C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1782336	NM_002907.4(RECQL):c.1902T>G (p.Ser634=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 506624	NM_002907.4(RECQL):c.1899A>G (p.Gln633=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1782198	NM_002907.4(RECQL):c.1898A>G (p.Gln633Arg)	PYROXD1, RECQL (Q633R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1782158	NM_002907.4(RECQL):c.1896G>A (p.Gln632=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3222959	NM_002907.4(RECQL):c.1892T>A (p.Leu631His)	PYROXD1, RECQL (L631H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2450987	NM_002907.4(RECQL):c.1885_1889del (p.Asn629fs)	PYROXD1, RECQL (N629fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 952507	NM_002907.4(RECQL):c.1889T>C (p.Met630Thr)	PYROXD1, RECQL (M630T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1781962	NM_002907.4(RECQL):c.1885A>G (p.Asn629Asp)	PYROXD1, RECQL (N629D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315784	NM_002907.4(RECQL):c.1882G>A (p.Ala628Thr)	PYROXD1, RECQL (A628T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313484	NM_002907.4(RECQL):c.1881T>G (p.Ala627=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1781774	NM_002907.4(RECQL):c.1873AAG[1] (p.Lys626del)	PYROXD1, RECQL (K626del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 1781795	NM_002907.4(RECQL):c.1877A>C (p.Lys626Thr)	PYROXD1, RECQL (K626T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1050702	NM_002907.4(RECQL):c.1877A>G (p.Lys626Arg)	PYROXD1, RECQL (K626R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 845290	NM_002907.4(RECQL):c.1876_1877delinsGC (p.Lys626Ala)	PYROXD1, RECQL (K626A)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1781780	NM_002907.4(RECQL):c.1876A>G (p.Lys626Glu)	PYROXD1, RECQL (K626E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1781747	NM_002907.4(RECQL):c.1874del (p.Lys625fs)	PYROXD1, RECQL (K625fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1781740	NM_002907.4(RECQL):c.1874A>G (p.Lys625Arg)	PYROXD1, RECQL (K625R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1781711	NM_002907.4(RECQL):c.1872G>A (p.Gln624=)	RECQL, PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1781691	NM_002907.4(RECQL):c.1871A>C (p.Gln624Pro)	PYROXD1, RECQL (Q624P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1781683	NM_002907.4(RECQL):c.1870C>T (p.Gln624Ter)	PYROXD1, RECQL (Q624*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1352958	NM_002907.4(RECQL):c.1869C>G (p.Phe623Leu)	PYROXD1, RECQL (F623L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1781601	NM_002907.4(RECQL):c.1867T>G (p.Phe623Val)	PYROXD1, RECQL (F623V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313492	NM_002907.4(RECQL):c.1865A>G (p.Asn622Ser)	PYROXD1, RECQL (N622S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1379200	NM_002907.4(RECQL):c.1865A>C (p.Asn622Thr)	PYROXD1, RECQL (N622T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1781524	NM_002907.4(RECQL):c.1862G>A (p.Gly621Asp)	PYROXD1, RECQL (G621D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1387465	NM_002907.4(RECQL):c.1861G>C (p.Gly621Arg)	PYROXD1, RECQL (G621R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1781491	NM_002907.4(RECQL):c.1860A>G (p.Ser620=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 545993	NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)	PYROXD1, RECQL (S620*)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1311083	NM_002907.4(RECQL):c.1855_1857dup (p.Asn619_Ser620insAsn)	PYROXD1, RECQL	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 3222958	NM_002907.4(RECQL):c.1857T>A (p.Asn619Lys)	PYROXD1, RECQL (N619K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463572	NM_002907.4(RECQL):c.1857T>C (p.Asn619=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 958815	NM_002907.4(RECQL):c.1856dup (p.Asn619fs)	PYROXD1, RECQL (N619fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 1686268	NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)	RECQL, PYROXD1 (N619I)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 954727	NM_002907.4(RECQL):c.1855A>C (p.Asn619His)	PYROXD1, RECQL (N619H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3313505	NM_002907.4(RECQL):c.1851A>G (p.Glu617=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1781291	NM_002907.4(RECQL):c.1849del (p.Glu617fs)	PYROXD1, RECQL (E617fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1355162	NM_002907.4(RECQL):c.1849G>A (p.Glu617Lys)	PYROXD1, RECQL (E617K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1635984	NM_002907.4(RECQL):c.1848G>A (p.Glu616=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1781261	NM_002907.4(RECQL):c.1847del (p.Glu616fs)	PYROXD1, RECQL (E616fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1781257	NM_002907.4(RECQL):c.1847A>T (p.Glu616Val)	PYROXD1, RECQL (E616V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1018120	NM_002907.4(RECQL):c.1847A>G (p.Glu616Gly)	PYROXD1, RECQL (E616G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1781254	NM_002907.4(RECQL):c.1846G>T (p.Glu616Ter)	PYROXD1, RECQL (E616*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1781158	NM_002907.4(RECQL):c.1841_1844dup (p.Met615fs)	PYROXD1, RECQL (M615fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1781216	NM_002907.4(RECQL):c.1844T>C (p.Met615Thr)	PYROXD1, RECQL (M615T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1781185	NM_002907.4(RECQL):c.1842G>T (p.Lys614Asn)	PYROXD1, RECQL (K614N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1781091	NM_002907.4(RECQL):c.1839A>G (p.Lys613=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1781074	NM_002907.4(RECQL):c.1838A>G (p.Lys613Arg)	PYROXD1, RECQL (K613R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1781072	NM_002907.4(RECQL):c.1838A>C (p.Lys613Thr)	PYROXD1, RECQL (K613T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624703	NM_002907.4(RECQL):c.1837A>G (p.Lys613Glu)	PYROXD1, RECQL (K613E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1781025	NM_002907.4(RECQL):c.1835A>G (p.Asp612Gly)	PYROXD1, RECQL (D612G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1595136	NM_002907.4(RECQL):c.1833T>C (p.Gly611=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 3313499	NM_002907.4(RECQL):c.1832G>T (p.Gly611Val)	PYROXD1, RECQL (G611V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1309775	NM_002907.4(RECQL):c.1831G>C (p.Gly611Arg)	PYROXD1, RECQL (G611R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1045074	NM_002907.4(RECQL):c.1831G>A (p.Gly611Ser)	PYROXD1, RECQL (G611S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1447519	NM_002907.4(RECQL):c.1828C>A (p.Gln610Lys)	PYROXD1, RECQL (Q610K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2728337	NM_002907.4(RECQL):c.1827A>C (p.Glu609Asp)	PYROXD1, RECQL (E609D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1780840	NM_002907.4(RECQL):c.1826A>G (p.Glu609Gly)	PYROXD1, RECQL (E609G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1086039	NM_002907.4(RECQL):c.1821T>C (p.His607=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2446913	NM_002907.4(RECQL):c.1819C>T (p.His607Tyr)	PYROXD1, RECQL (H607Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1780682	NM_002907.4(RECQL):c.1817_1819del (p.Cys606_His607delinsTyr)	PYROXD1, RECQL	Deletion (inframe_indel +1 more)	not specified	GUncertain significance

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