"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1782896	NM_002907.4(RECQL):c.1931G>T (p.Arg644Ile)	PYROXD1, RECQL (R644I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 845290	NM_002907.4(RECQL):c.1876_1877delinsGC (p.Lys626Ala)	PYROXD1, RECQL (K626A)	Indel (missense variant +1 more)	not provided	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 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 1635984	NM_002907.4(RECQL):c.1848G>A (p.Glu616=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1779572	NM_002907.4(RECQL):c.1760C>T (p.Thr587Ile)	PYROXD1, RECQL (T587I)	Single nucleotide variant (missense variant +1 more)	not provided +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 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 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 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 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 514529	NM_002907.4(RECQL):c.1590A>G (p.Ala530=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 830285	NM_002907.4(RECQL):c.1361G>A (p.Arg454His)	RECQL (R454H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 669213	NM_002907.4(RECQL):c.1356-7T>C	RECQL	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 811880	NM_002907.4(RECQL):c.1285A>G (p.Met429Val)	RECQL (M429V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 515023	NM_002907.4(RECQL):c.1215A>C (p.Ala405=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 943693	NM_002907.4(RECQL):c.1210C>T (p.Arg404Cys)	RECQL (R404C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2682070	NM_002907.4(RECQL):c.1118C>G (p.Ala373Gly)	RECQL (A373G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967538	NM_002907.4(RECQL):c.1098+1G>A	RECQL	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 514633	NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser)	RECQL (N363S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1643635	NM_002907.4(RECQL):c.1071T>C (p.His357=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 545884	NM_002907.4(RECQL):c.962_965del (p.Cys321fs)	RECQL (C321fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 966068	NM_002907.4(RECQL):c.962G>A (p.Cys321Tyr)	RECQL (C321Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1765577	NM_002907.4(RECQL):c.903T>C (p.Ile301=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2682074	NM_002907.4(RECQL):c.867+9_867+51del	RECQL	Deletion (intron variant)	not provided	GUncertain significance
Select item 1062979	NM_002907.4(RECQL):c.867+3A>T	RECQL	Single nucleotide variant (intron variant)	RECQL-related disorder +1 more	GUncertain significance
Select item 584812	NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr)	RECQL (C270Y)	Single nucleotide variant (missense variant)	RECQL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2682073	NM_002907.4(RECQL):c.775A>G (p.Asn259Asp)	RECQL (N259D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 859760	NM_002907.4(RECQL):c.644G>T (p.Arg215Leu)	RECQL (R215L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1598150	NM_002907.4(RECQL):c.642T>A (p.Thr214=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1749362	NM_002907.4(RECQL):c.573A>G (p.Pro191=)	RECQL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 584814	NM_002907.4(RECQL):c.518T>A (p.Val173Asp)	RECQL (V173D)	Single nucleotide variant (missense variant)	RECQL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1040722	NM_002907.4(RECQL):c.493A>T (p.Ser165Cys)	RECQL (S165C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 584818	NM_002907.4(RECQL):c.468T>G (p.Ile156Met)	RECQL (I156M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 682573	NM_002907.4(RECQL):c.417A>G (p.Pro139=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 584821	NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)	RECQL (T134I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2682072	NM_002907.4(RECQL):c.395-9del	RECQL	Deletion (intron variant)	not provided	GUncertain significance
Select item 1168881	NM_002907.4(RECQL):c.395-22_395-19dup	RECQL	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2192319	NM_002907.4(RECQL):c.394+10A>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 584822	NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr)	RECQL (C129Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2682071	NM_002907.4(RECQL):c.376C>A (p.Pro126Thr)	RECQL (P126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1733788	NM_002907.4(RECQL):c.366T>G (p.Cys122Trp)	RECQL (C122W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1441518	NM_002907.4(RECQL):c.321G>C (p.Lys107Asn)	RECQL (K107N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 506629	NM_002907.4(RECQL):c.304G>A (p.Val102Ile)	RECQL (V102I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1434433	NM_002907.4(RECQL):c.283C>G (p.Leu95Val)	RECQL (L95V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1005474	NM_002907.4(RECQL):c.199G>A (p.Ala67Thr)	RECQL (A67T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1022438	NM_002907.4(RECQL):c.160G>A (p.Asp54Asn)	RECQL (D54N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1405022	NM_002907.4(RECQL):c.156T>G (p.Asp52Glu)	RECQL (D52E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1749890	NM_002907.4(RECQL):c.120del (p.Val41fs)	RECQL (V41fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 681027	NM_002907.4(RECQL):c.87G>A (p.Thr29=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 584825	NM_002907.4(RECQL):c.86C>T (p.Thr29Met)	RECQL (T29M)	Single nucleotide variant (missense variant)	RECQL-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 514500	NM_002907.4(RECQL):c.78A>G (p.Gln26=)	RECQL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 854167	NM_002907.4(RECQL):c.73A>T (p.Ile25Phe)	RECQL (I25F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591705	NM_002907.4(RECQL):c.52C>T (p.Leu18=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 965436	NM_002907.4(RECQL):c.10G>A (p.Val4Ile)	RECQL (V4I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730377	NM_002907.4(RECQL):c.2T>C (p.Met1Thr)	RECQL (M1T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1808426	GRCh37/hg19 12p12.1(chr12:21567573-21623649)x1	PYROXD1, RECQL	Copy number loss	not provided	GUncertain significance
Select item 979339	GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1	GYS2, KCNJ8 +11 more	Copy number loss	not provided	GPathogenic
Select item 815514	GRCh37/hg19 12p12.1(chr12:21567572-21623649)x1	RECQL, PYROXD1	Copy number loss	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic

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Items: 71