ClinVar for Gene (Select 5965) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338482	NM_002907.4(RECQL):c.395-76_395-73del	RECQL	Deletion (intron variant)	Hereditary cancer	GLikely benign
Select item 3338480	NM_002907.4(RECQL):c.395-75_395-73del	RECQL	Deletion (intron variant)	Hereditary cancer	GLikely benign
Select item 3313532	NM_002907.4(RECQL):c.644G>C (p.Arg215Pro)	RECQL (R215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313531	NM_002907.4(RECQL):c.119A>T (p.Lys40Ile)	RECQL (K40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313530	NM_002907.4(RECQL):c.1944T>A (p.Asp648Glu)	PYROXD1, RECQL (D648E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313528	NM_002907.4(RECQL):c.129A>G (p.Thr43=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313527	NM_002907.4(RECQL):c.487G>A (p.Ala163Thr)	RECQL (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313526	NM_002907.4(RECQL):c.747A>G (p.Ser249=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313525	NM_002907.4(RECQL):c.1411T>C (p.Cys471Arg)	RECQL (C471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313524	NM_002907.4(RECQL):c.1068T>C (p.Val356=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313523	NM_002907.4(RECQL):c.975del (p.Asp326fs)	RECQL (D326fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3313522	NM_002907.4(RECQL):c.1775A>G (p.Lys592Arg)	PYROXD1, RECQL (K592R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313521	NM_002907.4(RECQL):c.837T>C (p.Ala279=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313520	NM_002907.4(RECQL):c.780C>G (p.His260Gln)	RECQL (H260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313518	NM_002907.4(RECQL):c.40A>G (p.Ile14Val)	RECQL (I14V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3313516	NM_002907.4(RECQL):c.611T>C (p.Leu204Pro)	RECQL (L204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313515	NM_002907.4(RECQL):c.132G>A (p.Lys44=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313514	NM_002907.4(RECQL):c.304G>T (p.Val102Leu)	RECQL (V102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313513	NM_002907.4(RECQL):c.1001T>G (p.Leu334Trp)	RECQL (L334W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313512	NM_002907.4(RECQL):c.995T>G (p.Val332Gly)	RECQL (V332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313511	NM_002907.4(RECQL):c.1000T>G (p.Leu334Val)	RECQL (L334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313510	NM_002907.4(RECQL):c.1770G>C (p.Val590=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3313509	NM_002907.4(RECQL):c.555G>A (p.Lys185=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313507	NM_002907.4(RECQL):c.1287G>T (p.Met429Ile)	RECQL (M429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313506	NM_002907.4(RECQL):c.334G>C (p.Val112Leu)	RECQL (V112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313505	NM_002907.4(RECQL):c.1851A>G (p.Glu617=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3313504	NM_002907.4(RECQL):c.919C>A (p.Leu307Ile)	RECQL (L307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313503	NM_002907.4(RECQL):c.497C>T (p.Ser166Phe)	RECQL (S166F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313502	NM_002907.4(RECQL):c.494G>C (p.Ser165Thr)	RECQL (S165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313501	NM_002907.4(RECQL):c.102G>T (p.Glu34Asp)	RECQL (E34D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313500	NM_002907.4(RECQL):c.234A>G (p.Lys78=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313499	NM_002907.4(RECQL):c.1832G>T (p.Gly611Val)	PYROXD1, RECQL (G611V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313497	NM_002907.4(RECQL):c.408C>A (p.Val136=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313496	NM_002907.4(RECQL):c.711A>G (p.Ala237=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313495	NM_002907.4(RECQL):c.472G>C (p.Ala158Pro)	RECQL (A158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313494	NM_002907.4(RECQL):c.530T>C (p.Met177Thr)	RECQL (M177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313493	NM_002907.4(RECQL):c.814G>C (p.Glu272Gln)	RECQL (E272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313492	NM_002907.4(RECQL):c.1865A>G (p.Asn622Ser)	PYROXD1, RECQL (N622S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313490	NM_002907.4(RECQL):c.278G>T (p.Arg93Ile)	RECQL (R93I)	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 3313488	NM_002907.4(RECQL):c.340C>G (p.Pro114Ala)	RECQL (P114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313487	NM_002907.4(RECQL):c.1798G>C (p.Ala600Pro)	PYROXD1, RECQL (A600P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313485	NM_002907.4(RECQL):c.918G>A (p.Lys306=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313484	NM_002907.4(RECQL):c.1881T>G (p.Ala627=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3313482	NM_002907.4(RECQL):c.652G>A (p.Val218Met)	RECQL (V218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244382	NC_000012.11:g.(?_21620458)_(21636518_?)dup	PYROXD1, RECQL	Duplication	not provided	GUncertain significance
Select item 3223001	NM_002907.4(RECQL):c.988G>A (p.Val330Ile)	RECQL (V330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222999	NM_002907.4(RECQL):c.976G>C (p.Asp326His)	RECQL (D326H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222997	NM_002907.4(RECQL):c.950G>C (p.Gly317Ala)	RECQL (G317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222996	NM_002907.4(RECQL):c.929G>A (p.Gly310Glu)	RECQL (G310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222995	NM_002907.4(RECQL):c.908A>C (p.Asp303Ala)	RECQL (D303A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222994	NM_002907.4(RECQL):c.87G>C (p.Thr29=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222993	NM_002907.4(RECQL):c.878A>C (p.Lys293Thr)	RECQL (K293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222992	NM_002907.4(RECQL):c.87_89delinsCGT (p.Glu30Val)	RECQL (E30V)	Indel (missense variant)	not specified	GUncertain significance
Select item 3222991	NM_002907.4(RECQL):c.860A>C (p.Tyr287Ser)	RECQL (Y287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222989	NM_002907.4(RECQL):c.836C>G (p.Ala279Gly)	RECQL (A279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222988	NM_002907.4(RECQL):c.796C>G (p.Gln266Glu)	RECQL (Q266E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3222987	NM_002907.4(RECQL):c.792T>C (p.Asp264=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222986	NM_002907.4(RECQL):c.778C>T (p.His260Tyr)	RECQL (H260Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222985	NM_002907.4(RECQL):c.661del (p.Val221fs)	RECQL (V221fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3222984	NM_002907.4(RECQL):c.656A>T (p.Asp219Val)	RECQL (D219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222983	NM_002907.4(RECQL):c.653T>C (p.Val218Ala)	RECQL (V218A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222982	NM_002907.4(RECQL):c.649G>T (p.Ala217Ser)	RECQL (A217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222981	NM_002907.4(RECQL):c.642T>C (p.Thr214=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222980	NM_002907.4(RECQL):c.62T>C (p.Val21Ala)	RECQL (V21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222979	NM_002907.4(RECQL):c.53T>C (p.Leu18Pro)	RECQL (L18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222978	NM_002907.4(RECQL):c.52C>A (p.Leu18Ile)	RECQL (L18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222977	NM_002907.4(RECQL):c.523G>C (p.Ala175Pro)	RECQL (A175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222976	NM_002907.4(RECQL):c.52_53delinsAC (p.Leu18Thr)	RECQL (L18T)	Indel (missense variant)	not specified	GUncertain significance
Select item 3222975	NM_002907.4(RECQL):c.507T>C (p.His169=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222974	NM_002907.4(RECQL):c.502G>C (p.Glu168Gln)	RECQL (E168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222973	NM_002907.4(RECQL):c.473C>T (p.Ala158Val)	RECQL (A158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222972	NM_002907.4(RECQL):c.440A>G (p.Gln147Arg)	RECQL (Q147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222971	NM_002907.4(RECQL):c.425C>T (p.Ser142Phe)	RECQL (S142F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222970	NM_002907.4(RECQL):c.406G>C (p.Val136Leu)	RECQL (V136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222969	NM_002907.4(RECQL):c.390A>G (p.Ser130=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222968	NM_002907.4(RECQL):c.37_39dup (p.Ser13_Ile14insSer)	RECQL	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 3222967	NM_002907.4(RECQL):c.344C>T (p.Thr115Ile)	RECQL (T115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222966	NM_002907.4(RECQL):c.324G>A (p.Glu108=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222965	NM_002907.4(RECQL):c.322G>A (p.Glu108Lys)	RECQL (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222964	NM_002907.4(RECQL):c.305dup (p.Thr103fs)	RECQL (T103fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 3222962	NM_002907.4(RECQL):c.250C>A (p.Gln84Lys)	RECQL (Q84K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222961	NM_002907.4(RECQL):c.222A>C (p.Pro74=)	RECQL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222960	NM_002907.4(RECQL):c.1907C>T (p.Ser636Phe)	PYROXD1, RECQL (S636F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222959	NM_002907.4(RECQL):c.1892T>A (p.Leu631His)	PYROXD1, RECQL (L631H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222958	NM_002907.4(RECQL):c.1857T>A (p.Asn619Lys)	PYROXD1, RECQL (N619K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222957	NM_002907.4(RECQL):c.1817G>A (p.Cys606Tyr)	PYROXD1, RECQL (C606Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222956	NM_002907.4(RECQL):c.1798-5_1807del	PYROXD1, RECQL	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3222954	NM_002907.4(RECQL):c.1784A>G (p.Gln595Arg)	PYROXD1, RECQL (Q595R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222953	NM_002907.4(RECQL):c.1773A>G (p.Thr591=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3222952	NM_002907.4(RECQL):c.1761T>C (p.Thr587=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3222951	NM_002907.4(RECQL):c.1734del (p.Leu578_Leu579insTer)	PYROXD1, RECQL	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3222950	NM_002907.4(RECQL):c.1729A>T (p.Asn577Tyr)	PYROXD1, RECQL (N577Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222949	NM_002907.4(RECQL):c.1724_1726dup (p.Lys575_Ala576insGlu)	PYROXD1, RECQL	Duplication (inframe_insertion +1 more)	not specified	GUncertain significance
Select item 3222948	NM_002907.4(RECQL):c.1714A>G (p.Ile572Val)	PYROXD1, RECQL (I572V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222947	NM_002907.4(RECQL):c.1695_1697del (p.Thr566del)	PYROXD1, RECQL (T566del)	Deletion (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 3222946	NM_002907.4(RECQL):c.1685C>T (p.Thr562Ile)	PYROXD1, RECQL (T562I)	Single nucleotide variant (missense variant +1 more)	not specified	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 3222944	NM_002907.4(RECQL):c.1635T>G (p.Ile545Met)	RECQL (I545M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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