"Baylor Genetics"[submitter] AND "RECQL4"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 648710	NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His)	RECQL4 (R1182H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 528964	NM_004260.4(RECQL4):c.3530A>G (p.Tyr1177Cys)	RECQL4 (Y1177C)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 1341332	NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp)	RECQL4 (G1166D)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 583315	NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr)	RECQL4 (I1143T)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GUncertain significance
Select item 239761	NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys)	RECQL4 (R1131K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 406997	NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu)	RECQL4 (P1116L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135152	NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg)	RECQL4 (G1113R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GConflicting classifications of pathogenicity
Select item 529037	NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg)	RECQL4 (G1105R)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 528957	NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His)	RECQL4 (R1096H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 997474	NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr)	RECQL4 (C1088Y)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 528915	NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu)	RECQL4 (F1077L)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 194743	NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)	RECQL4 (V985M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1029807	NM_004260.4(RECQL4):c.2880C>G (p.Ala960=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome	GUncertain significance
Select item 574984	NM_004260.4(RECQL4):c.2780T>C (p.Leu927Pro)	RECQL4 (L927P)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 459430	NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr)	RECQL4 (A919T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 459412	NM_004260.4(RECQL4):c.2543G>A (p.Arg848His)	RECQL4 (R848H)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +5 more	GConflicting classifications of pathogenicity
Select item 239734	NM_004260.4(RECQL4):c.2492A>G (p.His831Arg)	RECQL4 (H831R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 459403	NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln)	RECQL4 (R826Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 572448	NM_004260.4(RECQL4):c.2463+5G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 658248	NM_004260.4(RECQL4):c.2296C>T (p.Arg766Trp)	RECQL4 (R766W)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 1036666	NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro)	RECQL4 (R758P)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 407043	NM_004260.4(RECQL4):c.2236G>A (p.Ala746Thr)	RECQL4 (A746T)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 406912	NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln)	RECQL4 (R715Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GUncertain significance
Select item 135134	NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser)	RECQL4 (R696S)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GConflicting classifications of pathogenicity
Select item 528913	NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met)	RECQL4 (T690M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 135133	NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)	RECQL4 (R623H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1521183	NM_004260.4(RECQL4):c.1705-1G>C	RECQL4	Single nucleotide variant (splice acceptor variant +1 more)	Baller-Gerold syndrome	GLikely pathogenic
Select item 406987	NM_004260.4(RECQL4):c.1637C>T (p.Pro546Leu)	RECQL4 (P546L)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 645006	NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met)	RECQL4 (I496M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 850084	NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp)	RECQL4 (A480D)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 407031	NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala)	RECQL4 (P466A)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 239693	NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg)	RECQL4 (G387R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GUncertain significance
Select item 1029806	NM_004260.4(RECQL4):c.1150C>G (p.Arg384Gly)	RECQL4 (R384G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 561097	NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter)	RECQL4 (W383*)	Single nucleotide variant (nonsense)	Baller-Gerold syndrome +1 more	GPathogenic
Select item 1327074	NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg)	RECQL4 (Q377R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 528945	NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys)	RECQL4 (R370C)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 1073755	NM_004260.4(RECQL4):c.1078C>T (p.Gln360Ter)	RECQL4 (Q360*)	Single nucleotide variant (nonsense)	Baller-Gerold syndrome	GPathogenic
Select item 641612	NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr)	RECQL4 (A289T)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GConflicting classifications of pathogenicity
Select item 406960	NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg)	RECQL4 (G288R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GConflicting classifications of pathogenicity
Select item 528987	NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser)	RECQL4 (P230S)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 528967	NM_004260.4(RECQL4):c.578G>A (p.Arg193Gln)	RECQL4 (R193Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 847929	NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln)	RECQL4 (L179Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 407003	NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu)	LOC130001411, RECQL4 (R3L)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance

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Items: 43