RECQL[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1207085	NM_002907.4(RECQL):c.1668-160C>T	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679695	NM_002907.4(RECQL):c.1667+53T>A	RECQL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679694	NM_002907.4(RECQL):c.1667+53del	RECQL	Deletion (intron variant)	not provided	GBenign
Select item 2427932	NM_002907.4(RECQL):c.1667+18C>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539542	NM_002907.4(RECQL):c.1667+15A>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605400	NM_002907.4(RECQL):c.1667+8C>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712864	NM_002907.4(RECQL):c.1666_1667+3dup	RECQL	Duplication (splice donor variant)	not provided +1 more	GUncertain significance
Select item 2186206	NM_002907.4(RECQL):c.1667+3A>G	RECQL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 852047	NM_002907.4(RECQL):c.1667_1667+3del	RECQL	Deletion (splice donor variant)	not provided +1 more	GUncertain significance
Select item 1405215	NM_002907.4(RECQL):c.1667+2T>A	RECQL	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3222945	NM_002907.4(RECQL):c.1667A>C (p.Lys556Thr)	RECQL (K556T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1108289	NM_002907.4(RECQL):c.1661A>G (p.Tyr554Cys)	RECQL (Y554C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2450973	NM_002907.4(RECQL):c.1660T>A (p.Tyr554Asn)	RECQL (Y554N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1777418	NM_002907.4(RECQL):c.1659G>C (p.Gln553His)	RECQL (Q553H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1777390	NM_002907.4(RECQL):c.1658A>G (p.Gln553Arg)	RECQL (Q553R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 515055	NM_002907.4(RECQL):c.1657C>A (p.Gln553Lys)	RECQL (Q553K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1777367	NM_002907.4(RECQL):c.1656G>T (p.Gln552His)	RECQL (Q552H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1777364	NM_002907.4(RECQL):c.1656G>A (p.Gln552=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2565589	NM_002907.4(RECQL):c.1654C>G (p.Gln552Glu)	RECQL (Q552E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1777317	NM_002907.4(RECQL):c.1654C>T (p.Gln552Ter)	RECQL (Q552*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1777266	NM_002907.4(RECQL):c.1651dup (p.Ile551fs)	RECQL (I551fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 852743	NM_002907.4(RECQL):c.1652T>G (p.Ile551Arg)	RECQL (I551R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1024646	NM_002907.4(RECQL):c.1651A>G (p.Ile551Val)	RECQL (I551V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1777211	NM_002907.4(RECQL):c.1649T>C (p.Leu550Pro)	RECQL (L550P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 864207	NM_002907.4(RECQL):c.1649T>A (p.Leu550Gln)	RECQL (L550Q)	Single nucleotide variant (missense variant)	RECQL-related disorder +2 more	GUncertain significance
Select item 3313517	NM_002907.4(RECQL):c.1647T>G (p.Phe549Leu)	RECQL (F549L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1777149	NM_002907.4(RECQL):c.1645T>C (p.Phe549Leu)	RECQL (F549L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450947	NM_002907.4(RECQL):c.1643_1644del (p.His548fs)	RECQL (H548fs)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 1427931	NM_002907.4(RECQL):c.1642C>T (p.His548Tyr)	RECQL (H548Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1777041	NM_002907.4(RECQL):c.1641A>G (p.Ala547=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1777033	NM_002907.4(RECQL):c.1640C>T (p.Ala547Val)	RECQL (A547V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1704103	NM_002907.4(RECQL):c.1637T>C (p.Ile546Thr)	RECQL (I546T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1776933	NM_002907.4(RECQL):c.1636A>T (p.Ile546Phe)	RECQL (I546F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222944	NM_002907.4(RECQL):c.1635T>G (p.Ile545Met)	RECQL (I545M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1776869	NM_002907.4(RECQL):c.1633A>G (p.Ile545Val)	RECQL (I545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700838	NM_002907.4(RECQL):c.1628AGA[1] (p.Lys544del)	RECQL (K544del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 947263	NM_002907.4(RECQL):c.1633A>T (p.Ile545Phe)	RECQL (I545F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2586003	NM_002907.4(RECQL):c.1631A>C (p.Lys544Thr)	RECQL (K544T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450957	NM_002907.4(RECQL):c.1631A>G (p.Lys544Arg)	RECQL (K544R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1116819	NM_002907.4(RECQL):c.1631A>T (p.Lys544Met)	RECQL (K544M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1776764	NM_002907.4(RECQL):c.1629G>T (p.Glu543Asp)	RECQL (E543D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1776712	NM_002907.4(RECQL):c.1627_1629del (p.Glu543del)	RECQL (E543del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 1437641	NM_002907.4(RECQL):c.1627G>C (p.Glu543Gln)	RECQL (E543Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3222943	NM_002907.4(RECQL):c.1625T>A (p.Leu542Gln)	RECQL (L542Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1776665	NM_002907.4(RECQL):c.1624C>T (p.Leu542=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1081676	NM_002907.4(RECQL):c.1623T>C (p.Asp541=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1776211	NM_002907.4(RECQL):c.1603_1621del (p.Pro535fs)	RECQL (P535fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1700492	NM_002907.4(RECQL):c.1621G>C (p.Asp541His)	RECQL (D541H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1776601	NM_002907.4(RECQL):c.1620del (p.Asp541fs)	RECQL (D541fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1776548	NM_002907.4(RECQL):c.1619A>C (p.Glu540Ala)	RECQL (E540A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313489	NM_002907.4(RECQL):c.1618G>C (p.Glu540Gln)	RECQL (E540Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1776543	NM_002907.4(RECQL):c.1618G>A (p.Glu540Lys)	RECQL (E540K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2586010	NM_002907.4(RECQL):c.1616G>T (p.Arg539Leu)	RECQL (R539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1254239	NM_002907.4(RECQL):c.1616G>C (p.Arg539Pro)	RECQL (R539P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1010029	NM_002907.4(RECQL):c.1616G>A (p.Arg539His)	RECQL (R539H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2719207	NM_002907.4(RECQL):c.1615C>T (p.Arg539Cys)	RECQL (R539C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2450972	NM_002907.4(RECQL):c.1606_1612delinsTG (p.Thr536fs)	RECQL (T536fs)	Indel (frameshift variant)	not specified	GUncertain significance
Select item 2446912	NM_002907.4(RECQL):c.1612C>G (p.Pro538Ala)	RECQL (P538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2136185	NM_002907.4(RECQL):c.1609C>T (p.Leu537Phe)	RECQL (L537F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624699	NM_002907.4(RECQL):c.1608A>G (p.Thr536=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1776326	NM_002907.4(RECQL):c.1608A>T (p.Thr536=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1776313	NM_002907.4(RECQL):c.1607C>T (p.Thr536Ile)	RECQL (T536I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2976801	NM_002907.4(RECQL):c.1606A>G (p.Thr536Ala)	RECQL (T536A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1776251	NM_002907.4(RECQL):c.1605C>A (p.Pro535=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1776236	NM_002907.4(RECQL):c.1604C>G (p.Pro535Arg)	RECQL (P535R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1776235	NM_002907.4(RECQL):c.1604C>A (p.Pro535His)	RECQL (P535H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343932	NM_002907.4(RECQL):c.1604C>T (p.Pro535Leu)	RECQL (P535L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3222942	NM_002907.4(RECQL):c.1603C>T (p.Pro535Ser)	RECQL (P535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485673	NM_002907.4(RECQL):c.1603C>A (p.Pro535Thr)	RECQL (P535T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1776189	NM_002907.4(RECQL):c.1601C>T (p.Ala534Val)	RECQL (A534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2586005	NM_002907.4(RECQL):c.1600G>A (p.Ala534Thr)	RECQL (A534T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1370889	NM_002907.4(RECQL):c.1598T>C (p.Val533Ala)	RECQL (V533A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3222941	NM_002907.4(RECQL):c.1597G>T (p.Val533Leu)	RECQL (V533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1525126	NM_002907.4(RECQL):c.1594G>A (p.Val532Ile)	RECQL (V532I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1142136	NM_002907.4(RECQL):c.1593T>C (p.Gly531=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1775930	NM_002907.4(RECQL):c.1591G>C (p.Gly531Arg)	RECQL (G531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1775905	NM_002907.4(RECQL):c.1590A>C (p.Ala530=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 514529	NM_002907.4(RECQL):c.1590A>G (p.Ala530=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 940687	NM_002907.4(RECQL):c.1588G>A (p.Ala530Thr)	RECQL (A530T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1775819	NM_002907.4(RECQL):c.1587A>T (p.Val529=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1775816	NM_002907.4(RECQL):c.1587A>G (p.Val529=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1775812	NM_002907.4(RECQL):c.1587A>C (p.Val529=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222940	NM_002907.4(RECQL):c.1586T>G (p.Val529Gly)	RECQL (V529G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1014126	NM_002907.4(RECQL):c.1586T>C (p.Val529Ala)	RECQL (V529A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1775760	NM_002907.4(RECQL):c.1584_1585del (p.Arg528fs)	RECQL (R528fs)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 1775732	NM_002907.4(RECQL):c.1582A>G (p.Arg528Gly)	RECQL (R528G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1933717	NM_002907.4(RECQL):c.1581G>A (p.Leu527=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1775718	NM_002907.4(RECQL):c.1581G>T (p.Leu527=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1775714	NM_002907.4(RECQL):c.1581G>C (p.Leu527=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1775637	NM_002907.4(RECQL):c.1579C>T (p.Leu527=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2565559	NM_002907.4(RECQL):c.1576A>G (p.Lys526Glu)	RECQL (K526E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1775568	NM_002907.4(RECQL):c.1575A>G (p.Ala525=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1775553	NM_002907.4(RECQL):c.1574C>G (p.Ala525Gly)	RECQL (A525G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2450989	NM_002907.4(RECQL):c.1572A>C (p.Ala524=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1775524	NM_002907.4(RECQL):c.1572A>G (p.Ala524=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2450951	NM_002907.4(RECQL):c.1571C>G (p.Ala524Gly)	RECQL (A524G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565573	NM_002907.4(RECQL):c.1570G>A (p.Ala524Thr)	RECQL (A524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450985	NM_002907.4(RECQL):c.1569T>G (p.Gly523=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 668268	NM_002907.4(RECQL):c.1569T>C (p.Gly523=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2450949	NM_002907.4(RECQL):c.1567G>C (p.Gly523Arg)	RECQL (G523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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