ClinVar for Gene (Select 5965) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063269	GRCh37/hg19 12p12.1(chr12:21519406-21623649)x1	IAPP, PYROXD1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3045963	NM_002907.4(RECQL):c.395-14_395-10dup	RECQL	Duplication (intron variant)	RECQL-related condition	GLikely benign
Select item 3023468	NM_002907.4(RECQL):c.1798-5_1798-4insTTG	PYROXD1, RECQL	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3016071	NM_002907.4(RECQL):c.1246T>G (p.Leu416Val)	RECQL (L416V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011679	NM_002907.4(RECQL):c.164C>T (p.Ala55Val)	RECQL (A55V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986983	NM_002907.4(RECQL):c.973A>G (p.Lys325Glu)	RECQL (K325E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976801	NM_002907.4(RECQL):c.1606A>G (p.Thr536Ala)	RECQL (T536A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970992	NM_002907.4(RECQL):c.16+7A>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970972	NM_002907.4(RECQL):c.1448-1G>A	RECQL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2969864	NM_002907.4(RECQL):c.316G>A (p.Gly106Arg)	RECQL (G106R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920831	NM_002907.4(RECQL):c.1258_1282del (p.Phe420fs)	RECQL (F420fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2907644	NM_002907.4(RECQL):c.395-9dup	RECQL	Duplication (intron variant)	not provided	GLikely benign
Select item 2905765	NM_002907.4(RECQL):c.979T>C (p.Ser327Pro)	RECQL (S327P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903009	NM_002907.4(RECQL):c.1049del (p.Pro350fs)	RECQL (P350fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2902893	NM_002907.4(RECQL):c.868-11G>A	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902858	NM_002907.4(RECQL):c.1797+11A>T	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2902636	NM_002907.4(RECQL):c.1356-18C>A	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902627	NM_002907.4(RECQL):c.867+14A>C	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902318	NM_002907.4(RECQL):c.365G>A (p.Cys122Tyr)	RECQL (C122Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902271	NM_002907.4(RECQL):c.1448-15T>C	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886429	NM_002907.4(RECQL):c.656A>G (p.Asp219Gly)	RECQL (D219G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884702	NM_002907.4(RECQL):c.1520_1546del (p.Asn507_Leu515del)	RECQL	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2879971	NM_002907.4(RECQL):c.1792T>C (p.Phe598Leu)	PYROXD1, RECQL (F598L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868231	NM_002907.4(RECQL):c.890_891delinsTG (p.Thr297Met)	RECQL (T297M)	Indel (missense variant)	not provided	GUncertain significance
Select item 2867609	NM_002907.4(RECQL):c.1562G>C (p.Gly521Ala)	RECQL (G521A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861780	NM_002907.4(RECQL):c.954C>T (p.Ile318=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848452	NM_002907.4(RECQL):c.949+20A>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844338	NM_002907.4(RECQL):c.502-17T>A	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837672	NM_002907.4(RECQL):c.155A>G (p.Asp52Gly)	RECQL (D52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834686	NM_002907.4(RECQL):c.1099-10A>T	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831750	NM_002907.4(RECQL):c.1098+17C>T	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820570	NM_002907.4(RECQL):c.1124G>T (p.Gly375Val)	RECQL (G375V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819714	NM_002907.4(RECQL):c.122T>C (p.Val41Ala)	RECQL (V41A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819385	NM_002907.4(RECQL):c.485A>T (p.Asn162Ile)	RECQL (N162I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817813	NM_002907.4(RECQL):c.1357T>A (p.Cys453Ser)	RECQL (C453S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811997	NM_002907.4(RECQL):c.949+13C>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806322	NM_002907.4(RECQL):c.868-16G>C	RECQL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2806016	NM_002907.4(RECQL):c.1216+14A>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798803	NM_002907.4(RECQL):c.671G>A (p.Cys224Tyr)	RECQL (C224Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794984	NM_002907.4(RECQL):c.1061C>G (p.Thr354Ser)	RECQL (T354S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793848	NM_002907.4(RECQL):c.1216+18C>T	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785237	NM_002907.4(RECQL):c.16+5G>A	RECQL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2782990	NM_002907.4(RECQL):c.185A>T (p.Asp62Val)	RECQL (D62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772860	NM_002907.4(RECQL):c.109C>G (p.Gln37Glu)	RECQL (Q37E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761651	NM_002907.4(RECQL):c.868-7T>A	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755803	NM_002907.4(RECQL):c.111G>A (p.Gln37=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755694	NM_002907.4(RECQL):c.413G>T (p.Cys138Phe)	RECQL (C138F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752646	NM_002907.4(RECQL):c.469del (p.Ser157fs)	RECQL (S157fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2751817	NM_002907.4(RECQL):c.16+10A>G	RECQL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750609	NM_002907.4(RECQL):c.461T>G (p.Leu154Ter)	RECQL (L154*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2748160	NM_002907.4(RECQL):c.213del (p.Asp72fs)	RECQL (D72fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2745496	NM_002907.4(RECQL):c.1440A>G (p.Lys480=)	RECQL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728337	NM_002907.4(RECQL):c.1827A>C (p.Glu609Asp)	PYROXD1, RECQL (E609D)	Single nucleotide variant (missense variant +1 more)	not provided	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 2713135	NM_002907.4(RECQL):c.1238_1241dup (p.Cys414Ter)	RECQL (C414*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2710098	NM_002907.4(RECQL):c.1916C>A (p.Thr639Lys)	PYROXD1, RECQL (T639K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2700423	NM_002907.4(RECQL):c.1218_1356-518del	RECQL	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2682074	NM_002907.4(RECQL):c.867+9_867+51del	RECQL	Deletion (intron variant)	not provided	GUncertain significance
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 2682072	NM_002907.4(RECQL):c.395-9del	RECQL	Deletion (intron variant)	not provided	GUncertain significance
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 2682070	NM_002907.4(RECQL):c.1118C>G (p.Ala373Gly)	RECQL (A373G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2624703	NM_002907.4(RECQL):c.1837A>G (p.Lys613Glu)	PYROXD1, RECQL (K613E)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2624702	NM_002907.4(RECQL):c.1466dup (p.Thr490fs)	RECQL (T490fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2624701	NM_002907.4(RECQL):c.1272C>T (p.Phe424=)	RECQL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2624700	NM_002907.4(RECQL):c.855T>C (p.Asn285=)	RECQL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2624699	NM_002907.4(RECQL):c.1608A>G (p.Thr536=)	RECQL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2615781	NM_002907.4(RECQL):c.77A>G (p.Gln26Arg)	RECQL (Q26R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2593180	NM_002907.4(RECQL):c.479T>C (p.Met160Thr)	RECQL (M160T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2593162	NM_002907.4(RECQL):c.1677_1678del (p.Tyr559_Ser560delinsTer)	PYROXD1, RECQL	Deletion (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2593097	NM_002907.4(RECQL):c.919C>T (p.Leu307Phe)	RECQL (L307F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2589119	NM_002907.4(RECQL):c.1111A>G (p.Thr371Ala)	RECQL (T371A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586026	NM_002907.4(RECQL):c.939A>C (p.Lys313Asn)	RECQL (K313N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586024	NM_002907.4(RECQL):c.1483G>A (p.Asp495Asn)	RECQL (D495N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586023	NM_002907.4(RECQL):c.226T>C (p.Ser76Pro)	RECQL (S76P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586022	NM_002907.4(RECQL):c.651T>G (p.Ala217=)	RECQL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586021	NM_002907.4(RECQL):c.1747G>T (p.Ala583Ser)	PYROXD1, RECQL (A583S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586020	NM_002907.4(RECQL):c.304del (p.Asn101_Val102insTer)	RECQL	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586019	NM_002907.4(RECQL):c.650C>T (p.Ala217Val)	RECQL (A217V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586018	NM_002907.4(RECQL):c.99del (p.Glu34fs)	RECQL (E34fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586017	NM_002907.4(RECQL):c.1490T>C (p.Ile497Thr)	RECQL (I497T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586016	NM_002907.4(RECQL):c.524C>T (p.Ala175Val)	RECQL (A175V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586015	NM_002907.4(RECQL):c.1111A>T (p.Thr371Ser)	RECQL (T371S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586014	NM_002907.4(RECQL):c.922_923dup (p.Asn309fs)	RECQL (N309fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586013	NM_002907.4(RECQL):c.257T>C (p.Val86Ala)	RECQL (V86A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586012	NM_002907.4(RECQL):c.521A>T (p.His174Leu)	RECQL (H174L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586011	NM_002907.4(RECQL):c.1918G>A (p.Gly640Arg)	PYROXD1, RECQL (G640R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586010	NM_002907.4(RECQL):c.1616G>T (p.Arg539Leu)	RECQL (R539L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586009	NM_002907.4(RECQL):c.682G>C (p.Gly228Arg)	RECQL (G228R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586008	NM_002907.4(RECQL):c.977A>T (p.Asp326Val)	RECQL (D326V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586007	NM_002907.4(RECQL):c.1225G>A (p.Asp409Asn)	RECQL (D409N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586006	NM_002907.4(RECQL):c.1287G>A (p.Met429Ile)	RECQL (M429I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586005	NM_002907.4(RECQL):c.1600G>A (p.Ala534Thr)	RECQL (A534T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586004	NM_002907.4(RECQL):c.566T>A (p.Val189Glu)	RECQL (V189E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586003	NM_002907.4(RECQL):c.1631A>C (p.Lys544Thr)	RECQL (K544T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586002	NM_002907.4(RECQL):c.1332A>G (p.Val444=)	RECQL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586001	NM_002907.4(RECQL):c.1668A>C (p.Lys556Asn)	PYROXD1, RECQL (K556N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586000	NM_002907.4(RECQL):c.1295T>A (p.Met432Lys)	RECQL (M432K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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