"Ambry Genetics"[submitter] AND "RECQL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1783108	NM_002907.4(RECQL):c.1944T>C (p.Asp648=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1159269	NM_002907.4(RECQL):c.1938C>T (p.Ile646=)	RECQL, PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1782967	NM_002907.4(RECQL):c.1936dup (p.Ile646fs)	PYROXD1, RECQL (I646fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1310836	NM_002907.4(RECQL):c.1931_1936del (p.Arg644_Lys645del)	PYROXD1, RECQL	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2585998	NM_002907.4(RECQL):c.1922C>G (p.Ala641Gly)	PYROXD1, RECQL (A641G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 967492	NM_002907.4(RECQL):c.1922C>T (p.Ala641Val)	PYROXD1, RECQL (A641V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +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)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586011	NM_002907.4(RECQL):c.1918G>A (p.Gly640Arg)	PYROXD1, RECQL (G640R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782351	NM_002907.4(RECQL):c.1903G>T (p.Gly635Cys)	PYROXD1, RECQL (G635C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782336	NM_002907.4(RECQL):c.1902T>G (p.Ser634=)	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1782198	NM_002907.4(RECQL):c.1898A>G (p.Gln633Arg)	PYROXD1, RECQL (Q633R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782158	NM_002907.4(RECQL):c.1896G>A (p.Gln632=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2450987	NM_002907.4(RECQL):c.1885_1889del (p.Asn629fs)	PYROXD1, RECQL (N629fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781962	NM_002907.4(RECQL):c.1885A>G (p.Asn629Asp)	PYROXD1, RECQL (N629D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2315784	NM_002907.4(RECQL):c.1882G>A (p.Ala628Thr)	PYROXD1, RECQL (A628T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1781774	NM_002907.4(RECQL):c.1873AAG[1] (p.Lys626del)	PYROXD1, RECQL (K626del)	Microsatellite (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1050702	NM_002907.4(RECQL):c.1877A>G (p.Lys626Arg)	PYROXD1, RECQL (K626R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1781780	NM_002907.4(RECQL):c.1876A>G (p.Lys626Glu)	PYROXD1, RECQL (K626E)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1781747	NM_002907.4(RECQL):c.1874del (p.Lys625fs)	PYROXD1, RECQL (K625fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781740	NM_002907.4(RECQL):c.1874A>G (p.Lys625Arg)	PYROXD1, RECQL (K625R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1781711	NM_002907.4(RECQL):c.1872G>A (p.Gln624=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1781691	NM_002907.4(RECQL):c.1871A>C (p.Gln624Pro)	RECQL, PYROXD1 (Q624P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781683	NM_002907.4(RECQL):c.1870C>T (p.Gln624Ter)	RECQL, PYROXD1 (Q624*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	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 provided +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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781524	NM_002907.4(RECQL):c.1862G>A (p.Gly621Asp)	PYROXD1, RECQL (G621D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1387465	NM_002907.4(RECQL):c.1861G>C (p.Gly621Arg)	PYROXD1, RECQL (G621R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 545993	NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)	PYROXD1, RECQL (S620*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1311083	NM_002907.4(RECQL):c.1855_1857dup (p.Asn619dup)	PYROXD1, RECQL	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2463572	NM_002907.4(RECQL):c.1857T>C (p.Asn619=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 958815	NM_002907.4(RECQL):c.1856dup (p.Asn619fs)	PYROXD1, RECQL (N619fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1686268	NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)	PYROXD1, RECQL (N619I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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	GUncertain significance
Select item 1781291	NM_002907.4(RECQL):c.1849del (p.Glu617fs)	PYROXD1, RECQL (E617fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1355162	NM_002907.4(RECQL):c.1849G>A (p.Glu617Lys)	PYROXD1, RECQL (E617K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781257	NM_002907.4(RECQL):c.1847A>T (p.Glu616Val)	PYROXD1, RECQL (E616V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781254	NM_002907.4(RECQL):c.1846G>T (p.Glu616Ter)	PYROXD1, RECQL (E616*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1781158	NM_002907.4(RECQL):c.1841_1844dup (p.Met615fs)	PYROXD1, RECQL (M615fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781216	NM_002907.4(RECQL):c.1844T>C (p.Met615Thr)	PYROXD1, RECQL (M615T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781185	NM_002907.4(RECQL):c.1842G>T (p.Lys614Asn)	PYROXD1, RECQL (K614N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781091	NM_002907.4(RECQL):c.1839A>G (p.Lys613=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1781074	NM_002907.4(RECQL):c.1838A>G (p.Lys613Arg)	PYROXD1, RECQL (K613R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1781072	NM_002907.4(RECQL):c.1838A>C (p.Lys613Thr)	RECQL, PYROXD1 (K613T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2624703	NM_002907.4(RECQL):c.1837A>G (p.Lys613Glu)	PYROXD1, RECQL (K613E)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781025	NM_002907.4(RECQL):c.1835A>G (p.Asp612Gly)	PYROXD1, RECQL (D612G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1595136	NM_002907.4(RECQL):c.1833T>C (p.Gly611=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1309775	NM_002907.4(RECQL):c.1831G>C (p.Gly611Arg)	PYROXD1, RECQL (G611R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1780840	NM_002907.4(RECQL):c.1826A>G (p.Glu609Gly)	PYROXD1, RECQL (E609G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2446913	NM_002907.4(RECQL):c.1819C>T (p.His607Tyr)	PYROXD1, RECQL (H607Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780682	NM_002907.4(RECQL):c.1817_1819del (p.Cys606_His607delinsTyr)	PYROXD1, RECQL	Deletion (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780708	NM_002907.4(RECQL):c.1818T>A (p.Cys606Ter)	PYROXD1, RECQL (C606*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780662	NM_002907.4(RECQL):c.1815T>A (p.Thr605=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1780640	NM_002907.4(RECQL):c.1814C>T (p.Thr605Ile)	PYROXD1, RECQL (T605I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780638	NM_002907.4(RECQL):c.1814C>A (p.Thr605Asn)	PYROXD1, RECQL (T605N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1180392	NM_002907.4(RECQL):c.1809T>C (p.Ser603=)	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1086542	NM_002907.4(RECQL):c.1806G>A (p.Ser602=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1005037	NM_002907.4(RECQL):c.1805C>T (p.Ser602Leu)	PYROXD1, RECQL (S602L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1780424	NM_002907.4(RECQL):c.1802A>C (p.Glu601Ala)	PYROXD1, RECQL (E601A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780310	NM_002907.4(RECQL):c.1799C>G (p.Ala600Gly)	PYROXD1, RECQL (A600G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 584802	NM_002907.4(RECQL):c.1798-2A>T	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1307575	NM_002907.4(RECQL):c.1795A>G (p.Arg599Gly)	PYROXD1, RECQL (R599G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1780237	NM_002907.4(RECQL):c.1794C>A (p.Phe598Leu)	PYROXD1, RECQL (F598L)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780226	NM_002907.4(RECQL):c.1793T>G (p.Phe598Cys)	PYROXD1, RECQL (F598C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780121	NM_002907.4(RECQL):c.1788C>T (p.Asn596=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1780046	NM_002907.4(RECQL):c.1783C>T (p.Gln595Ter)	PYROXD1, RECQL (Q595*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1156894	NM_002907.4(RECQL):c.1782G>A (p.Thr594=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 999283	NM_002907.4(RECQL):c.1780A>T (p.Thr594Ser)	PYROXD1, RECQL (T594S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1779910	NM_002907.4(RECQL):c.1778C>T (p.Ser593Phe)	PYROXD1, RECQL (S593F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1779909	NM_002907.4(RECQL):c.1778C>A (p.Ser593Tyr)	PYROXD1, RECQL (S593Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2450992	NM_002907.4(RECQL):c.1773A>C (p.Thr591=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2560860	NM_002907.4(RECQL):c.1771A>C (p.Thr591Pro)	PYROXD1, RECQL (T591P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2562122	NM_002907.4(RECQL):c.1770G>T (p.Val590=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1779791	NM_002907.4(RECQL):c.1770G>A (p.Val590=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1779722	NM_002907.4(RECQL):c.1768G>C (p.Val590Leu)	PYROXD1, RECQL (V590L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1779720	NM_002907.4(RECQL):c.1768G>A (p.Val590Met)	PYROXD1, RECQL (V590M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1779706	NM_002907.4(RECQL):c.1767del (p.Gln589_Val590insTer)	PYROXD1, RECQL	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1406851	NM_002907.4(RECQL):c.1765C>G (p.Gln589Glu)	PYROXD1, RECQL (Q589E)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1003239	NM_002907.4(RECQL):c.1763T>A (p.Met588Lys)	PYROXD1, RECQL (M588K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2446910	NM_002907.4(RECQL):c.1760C>A (p.Thr587Asn)	PYROXD1, RECQL (T587N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1779572	NM_002907.4(RECQL):c.1760C>T (p.Thr587Ile)	PYROXD1, RECQL (T587I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2565569	NM_002907.4(RECQL):c.1758T>G (p.Ile586Met)	PYROXD1, RECQL (I586M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1779497	NM_002907.4(RECQL):c.1757T>G (p.Ile586Ser)	PYROXD1, RECQL (I586S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1779468	NM_002907.4(RECQL):c.1755T>A (p.Ala585=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 958327	NM_002907.4(RECQL):c.1752T>G (p.His584Gln)	PYROXD1, RECQL (H584Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2586021	NM_002907.4(RECQL):c.1747G>T (p.Ala583Ser)	PYROXD1, RECQL (A583S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1779261	NM_002907.4(RECQL):c.1744G>A (p.Glu582Lys)	PYROXD1, RECQL (E582K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1479608	NM_002907.4(RECQL):c.1743T>A (p.Asn581Lys)	PYROXD1, RECQL (N581K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2565581	NM_002907.4(RECQL):c.1742A>T (p.Asn581Ile)	PYROXD1, RECQL (N581I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1035666	NM_002907.4(RECQL):c.1742A>G (p.Asn581Ser)	PYROXD1, RECQL (N581S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2450977	NM_002907.4(RECQL):c.1741A>T (p.Asn581Tyr)	PYROXD1, RECQL (N581Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1218186	NM_002907.4(RECQL):c.1741A>G (p.Asn581Asp)	PYROXD1, RECQL (N581D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1779185	NM_002907.4(RECQL):c.1740C>A (p.Asn580Lys)	PYROXD1, RECQL (N580K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1134505	NM_002907.4(RECQL):c.1737G>A (p.Leu579=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1779088	NM_002907.4(RECQL):c.1736T>A (p.Leu579Gln)	PYROXD1, RECQL (L579Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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