"GeneDx"[submitter] AND "RECQL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1310836	NM_002907.4(RECQL):c.1931_1936del (p.Arg644_Lys645del)	PYROXD1, RECQL	Deletion (inframe_deletion +1 more)	not specified +1 more	GUncertain significance
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 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 1050702	NM_002907.4(RECQL):c.1877A>G (p.Lys626Arg)	PYROXD1, RECQL (K626R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 specified +1 more	GUncertain significance
Select item 954727	NM_002907.4(RECQL):c.1855A>C (p.Asn619His)	PYROXD1, RECQL (N619H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1781074	NM_002907.4(RECQL):c.1838A>G (p.Lys613Arg)	PYROXD1, RECQL (K613R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 1180392	NM_002907.4(RECQL):c.1809T>C (p.Ser603=)	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 specified +1 more	GConflicting classifications of pathogenicity
Select item 1060342	NM_002907.4(RECQL):c.1798-2A>C	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1264668	NM_002907.4(RECQL):c.1798-7_1798-5dup	PYROXD1, RECQL	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260125	NM_002907.4(RECQL):c.1798-6_1798-5dup	PYROXD1, RECQL	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1230830	NM_002907.4(RECQL):c.1798-5dup	PYROXD1, RECQL	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1189360	NM_002907.4(RECQL):c.1798-8_1798-5dup	PYROXD1, RECQL	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1188255	NM_002907.4(RECQL):c.1798-9_1798-5dup	PYROXD1, RECQL	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 679737	NM_002907.4(RECQL):c.1798-4G>T	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1266698	NM_002907.4(RECQL):c.1798-5del	PYROXD1, RECQL	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1193305	NM_002907.4(RECQL):c.1798-12_1798-11insTTG	PYROXD1, RECQL	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1193692	NM_002907.4(RECQL):c.1798-13T>C	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1251659	NM_002907.4(RECQL):c.1798-18T>A	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 679712	NM_002907.4(RECQL):c.1798-231T>C	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 679771	NM_002907.4(RECQL):c.1798-240_1798-236del	PYROXD1, RECQL	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 679711	NM_002907.4(RECQL):c.1797+14_1797+17del	PYROXD1, RECQL	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1307575	NM_002907.4(RECQL):c.1795A>G (p.Arg599Gly)	PYROXD1, RECQL (R599G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1156894	NM_002907.4(RECQL):c.1782G>A (p.Thr594=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 584803	NM_002907.4(RECQL):c.1781C>T (p.Thr594Met)	PYROXD1, RECQL (T594M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 999283	NM_002907.4(RECQL):c.1780A>T (p.Thr594Ser)	PYROXD1, RECQL (T594S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1218186	NM_002907.4(RECQL):c.1741A>G (p.Asn581Asp)	PYROXD1, RECQL (N581D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 506623	NM_002907.4(RECQL):c.1731T>C (p.Asn577=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1778969	NM_002907.4(RECQL):c.1730A>C (p.Asn577Thr)	PYROXD1, RECQL (N577T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 515125	NM_002907.4(RECQL):c.1704G>A (p.Ser568=)	RECQL, PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1063030	NM_002907.4(RECQL):c.1703C>T (p.Ser568Leu)	PYROXD1, RECQL (S568L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1010899	NM_002907.4(RECQL):c.1696A>G (p.Thr566Ala)	PYROXD1, RECQL (T566A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1046150	NM_002907.4(RECQL):c.1694C>T (p.Ala565Val)	PYROXD1, RECQL (A565V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1002908	NM_002907.4(RECQL):c.1679G>A (p.Ser560Asn)	PYROXD1, RECQL (S560N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 954936	NM_002907.4(RECQL):c.1675T>A (p.Tyr559Asn)	PYROXD1, RECQL (Y559N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1204051	NM_002907.4(RECQL):c.1668-81G>A	RECQL, PYROXD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 1712864	NM_002907.4(RECQL):c.1666_1667+3dup	RECQL	Duplication (splice donor variant)	not specified +1 more	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 1108289	NM_002907.4(RECQL):c.1661A>G (p.Tyr554Cys)	RECQL (Y554C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 864207	NM_002907.4(RECQL):c.1649T>A (p.Leu550Gln)	RECQL (L550Q)	Single nucleotide variant (missense variant)	not provided +2 more	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 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 1700838	NM_002907.4(RECQL):c.1628AGA[1] (p.Lys544del)	RECQL (K544del)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 947263	NM_002907.4(RECQL):c.1633A>T (p.Ile545Phe)	RECQL (I545F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1116819	NM_002907.4(RECQL):c.1631A>T (p.Lys544Met)	RECQL (K544M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1700492	NM_002907.4(RECQL):c.1621G>C (p.Asp541His)	RECQL (D541H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1254239	NM_002907.4(RECQL):c.1616G>C (p.Arg539Pro)	RECQL (R539P)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 specified +1 more	GUncertain significance
Select item 668268	NM_002907.4(RECQL):c.1569T>C (p.Gly523=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1005894	NM_002907.4(RECQL):c.1547T>C (p.Ile516Thr)	RECQL (I516T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 682353	NM_002907.4(RECQL):c.1539G>A (p.Leu513=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 682016	NM_002907.4(RECQL):c.1536A>T (p.Pro512=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1308936	NM_002907.4(RECQL):c.1531A>G (p.Thr511Ala)	RECQL (T511A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668250	NM_002907.4(RECQL):c.1530C>G (p.Leu510=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1492364	NM_002907.4(RECQL):c.1525A>T (p.Lys509Ter)	RECQL (K509*)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 1309353	NM_002907.4(RECQL):c.1495A>G (p.Ile499Val)	RECQL (I499V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935096	NM_002907.4(RECQL):c.1489dup (p.Ile497fs)	RECQL (I497fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 506630	NM_002907.4(RECQL):c.1483G>C (p.Asp495His)	RECQL (D495H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1060246	NM_002907.4(RECQL):c.1476C>G (p.Tyr492Ter)	RECQL (Y492*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 584806	NM_002907.4(RECQL):c.1465A>G (p.Ile489Val)	RECQL (I489V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2430679	NM_002907.4(RECQL):c.1461_1462del (p.Asn488fs)	RECQL (N488fs)	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 506625	NM_002907.4(RECQL):c.1460A>C (p.Lys487Thr)	RECQL (K487T)	Single nucleotide variant (missense variant)	RECON progeroid syndrome +2 more	GBenign
Select item 1002453	NM_002907.4(RECQL):c.1448C>A (p.Ala483Glu)	RECQL (A483E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1810738	NM_002907.4(RECQL):c.1448-12_1448-8del	RECQL	Deletion (intron variant)	not provided	GUncertain significance
Select item 1242203	NM_002907.4(RECQL):c.1448-114del	RECQL	Deletion (intron variant)	not provided	GBenign
Select item 679726	NM_002907.4(RECQL):c.1448-157_1448-152del	RECQL	Deletion (intron variant)	not provided	GBenign
Select item 679725	NM_002907.4(RECQL):c.1447+198C>T	RECQL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679693	NM_002907.4(RECQL):c.1447+161T>G	RECQL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679691	NM_002907.4(RECQL):c.1447+155G>T	RECQL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1061544	NM_002907.4(RECQL):c.1447+3_1447+6del	RECQL	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1414972	NM_002907.4(RECQL):c.1444_1446del (p.Ser482del)	RECQL (S482del)	Deletion (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 515567	NM_002907.4(RECQL):c.1446T>C (p.Ser482=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1306195	NM_002907.4(RECQL):c.1444A>G (p.Ser482Gly)	RECQL (S482G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215005	NM_002907.4(RECQL):c.1436G>A (p.Cys479Tyr)	RECQL (C479Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1204395	NM_002907.4(RECQL):c.1435T>C (p.Cys479Arg)	RECQL (C479R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042323	NM_002907.4(RECQL):c.1426G>A (p.Asp476Asn)	RECQL (D476N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1708817	NM_002907.4(RECQL):c.1393G>A (p.Val465Ile)	RECQL (V465I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 584807	NM_002907.4(RECQL):c.1382A>G (p.His461Arg)	RECQL (H461R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 834493	NM_002907.4(RECQL):c.1360CGT[1] (p.Arg455del)	RECQL (R455del)	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 856659	NM_002907.4(RECQL):c.1364G>A (p.Arg455His)	RECQL (R455H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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