ClinVar for Gene (Select 23067) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339070	NM_001353345.2(SETD1B):c.4867C>A (p.Arg1623Ser)	SETD1B (R1623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338926	NM_001353345.2(SETD1B):c.3284C>T (p.Ser1095Phe)	SETD1B (S1095F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317719	NM_001353345.2(SETD1B):c.1213G>A (p.Ala405Thr)	SETD1B (A405T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317718	NM_001353345.2(SETD1B):c.2260C>A (p.Pro754Thr)	SETD1B (P754T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317717	NM_001353345.2(SETD1B):c.4005_4010delinsAT (p.Ser1335fs)	SETD1B (S1335fs)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3317716	NM_001353345.2(SETD1B):c.3823A>T (p.Ser1275Cys)	SETD1B (S1275C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317715	NM_001353345.2(SETD1B):c.1687C>T (p.Arg563Cys)	SETD1B (R563C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317714	NM_001353345.2(SETD1B):c.2096C>T (p.Pro699Leu)	SETD1B (P699L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317713	NM_001353345.2(SETD1B):c.130C>T (p.His44Tyr)	SETD1B (H44Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317712	NM_001353345.2(SETD1B):c.5108G>A (p.Arg1703Gln)	SETD1B (R1703Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317710	NM_001353345.2(SETD1B):c.686A>G (p.Asp229Gly)	SETD1B (D229G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317709	NM_001353345.2(SETD1B):c.5218C>T (p.Arg1740Cys)	SETD1B (R1740C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317708	NM_001353345.2(SETD1B):c.5261C>T (p.Thr1754Ile)	SETD1B (T1754I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257979	NM_001353345.2(SETD1B):c.890C>A (p.Ser297Ter)	SETD1B (S297*)	Single nucleotide variant (nonsense)	Neoplasm	OUncertain significance
Select item 3257730	NM_001353345.2(SETD1B):c.5107C>T (p.Arg1703Ter)	SETD1B (R1703*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 3257223	NM_001353345.2(SETD1B):c.3319G>A (p.Asp1107Asn)	SETD1B (D1107N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254593	NM_001353345.2(SETD1B):c.4051C>T (p.Pro1351Ser)	SETD1B (P1351S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 3251757	NM_001353345.2(SETD1B):c.3160G>A (p.Gly1054Arg)	SETD1B (G1054R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251269	NM_001353345.2(SETD1B):c.4372C>T (p.Arg1458Cys)	SETD1B (R1458C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3251206	NM_001353345.2(SETD1B):c.2983G>T (p.Glu995Ter)	SETD1B (E995*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3250987	NM_001353345.2(SETD1B):c.3457A>T (p.Thr1153Ser)	SETD1B (T1153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ANAPC5, B3GNT4 +24 more	Deletion	not provided	GPathogenic
Select item 3244335	NC_000012.11:g.(?_122064648)_(122287716_?)del	HPD, MORN3 +4 more	Deletion	Combined immunodeficiency due to ORAI1 deficiency +1 more	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	CDK2AP1, DIABLO +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3241984	NM_001353345.2(SETD1B):c.5100_5103del (p.Tyr1701fs)	SETD1B (Y1701fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 3241982	NM_001353345.2(SETD1B):c.3014C>A (p.Thr1005Asn)	SETD1B (T1005N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 3239076	NM_001353345.2(SETD1B):c.2875C>T (p.Leu959=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234275	NM_001353345.2(SETD1B):c.1451C>T (p.Thr484Met)	SETD1B (T484M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3233606	NM_001353345.2(SETD1B):c.5847_5866del (p.Asp1949fs)	SETD1B (D1949fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3160629	NM_001353345.2(SETD1B):c.994A>G (p.Asn332Asp)	SETD1B (N332D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160628	NM_001353345.2(SETD1B):c.959C>G (p.Ala320Gly)	SETD1B (A320G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160627	NM_001353345.2(SETD1B):c.5626G>A (p.Glu1876Lys)	SETD1B (E1876K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160626	NM_001353345.2(SETD1B):c.5563G>A (p.Glu1855Lys)	SETD1B (E1855K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160624	NM_001353345.2(SETD1B):c.4916G>A (p.Arg1639Gln)	SETD1B (R1639Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160623	NM_001353345.2(SETD1B):c.4792C>T (p.Pro1598Ser)	SETD1B (P1598S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160622	NM_001353345.2(SETD1B):c.4745C>T (p.Pro1582Leu)	SETD1B (P1582L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160621	NM_001353345.2(SETD1B):c.4608G>T (p.Leu1536Phe)	SETD1B (L1536F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160620	NM_001353345.2(SETD1B):c.4550G>A (p.Arg1517Lys)	SETD1B (R1517K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160618	NM_001353345.2(SETD1B):c.4229A>C (p.Tyr1410Ser)	SETD1B (Y1410S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160617	NM_001353345.2(SETD1B):c.4018C>G (p.Pro1340Ala)	SETD1B (P1340A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160616	NM_001353345.2(SETD1B):c.3986G>A (p.Arg1329Gln)	SETD1B (R1329Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160615	NM_001353345.2(SETD1B):c.3696G>C (p.Glu1232Asp)	SETD1B (E1232D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160613	NM_001353345.2(SETD1B):c.3455C>T (p.Ala1152Val)	SETD1B (A1152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160611	NM_001353345.2(SETD1B):c.3403G>A (p.Gly1135Arg)	SETD1B (G1135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160610	NM_001353345.2(SETD1B):c.2195C>T (p.Ala732Val)	SETD1B (A732V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160609	NM_001353345.2(SETD1B):c.2143C>T (p.Pro715Ser)	SETD1B (P715S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160608	NM_001353345.2(SETD1B):c.1816C>T (p.Leu606Phe)	SETD1B (L606F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160607	NM_001353345.2(SETD1B):c.1810G>C (p.Ala604Pro)	SETD1B (A604P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160606	NM_001353345.2(SETD1B):c.1750G>C (p.Glu584Gln)	SETD1B (E584Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160604	NM_001353345.2(SETD1B):c.1489G>C (p.Asp497His)	SETD1B (D497H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160603	NM_001353345.2(SETD1B):c.1313C>T (p.Pro438Leu)	SETD1B (P438L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160602	NM_001353345.2(SETD1B):c.1015G>C (p.Val339Leu)	SETD1B (V339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154078	NM_019034.3(RHOF):c.185T>C (p.Val62Ala)	RHOF, SETD1B (V62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068698	NM_001353345.2(SETD1B):c.5589+10G>A	SETD1B	Single nucleotide variant (intron variant)	Intellectual developmental disorder with seizures and language delay	GBenign
Select item 3067952	NM_001353345.2(SETD1B):c.5126dup (p.Asn1709fs)	SETD1B (N1709fs)	Duplication (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 3067545	NM_001353345.2(SETD1B):c.5856C>T (p.Ile1952=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067473	NM_001353345.2(SETD1B):c.3065G>A (p.Arg1022Gln)	SETD1B (R1022Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3067396	NM_001353345.2(SETD1B):c.3709G>A (p.Glu1237Lys)	SETD1B (E1237K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067378	NM_001353345.2(SETD1B):c.3011A>G (p.Asp1004Gly)	SETD1B (D1004G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066227	NM_001353345.2(SETD1B):c.2861G>A (p.Arg954His)	SETD1B (R954H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 3065322	NM_001353345.2(SETD1B):c.1720C>T (p.Pro574Ser)	SETD1B (P574S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 3058804	NM_001353345.2(SETD1B):c.1245C>T (p.Thr415=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3058479	NM_001353345.2(SETD1B):c.4035C>T (p.Ala1345=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3057898	NM_001353345.2(SETD1B):c.3123G>A (p.Leu1041=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3054005	NM_001353345.2(SETD1B):c.1943C>T (p.Ser648Leu)	SETD1B (S648L)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GLikely benign
Select item 3053993	NM_001353345.2(SETD1B):c.4364G>A (p.Arg1455His)	SETD1B (R1455H)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GLikely benign
Select item 3053007	NM_001353345.2(SETD1B):c.-6A>G	SETD1B	Single nucleotide variant (5 prime UTR variant)	SETD1B-related disorder	GLikely benign
Select item 3051972	NM_001353345.2(SETD1B):c.637A>G (p.Ile213Val)	SETD1B (I213V)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GLikely benign
Select item 3051752	NM_001353345.2(SETD1B):c.4389C>T (p.Ala1463=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3050591	NM_001353345.2(SETD1B):c.1371C>T (p.Pro457=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3050587	NM_001353345.2(SETD1B):c.624C>T (p.Asp208=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GBenign
Select item 3050441	NM_001353345.2(SETD1B):c.2478C>T (p.Ser826=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GBenign
Select item 3049681	NM_001353345.2(SETD1B):c.3327C>T (p.Asp1109=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3049460	NM_001353345.2(SETD1B):c.3363C>A (p.Asp1121Glu)	SETD1B (D1121E)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GBenign
Select item 3048961	NM_001353345.2(SETD1B):c.4077C>A (p.His1359Gln)	SETD1B (H1359Q)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GBenign
Select item 3046785	NM_001353345.2(SETD1B):c.3994C>T (p.Arg1332Trp)	SETD1B (R1332W)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GLikely benign
Select item 3045743	NM_001353345.2(SETD1B):c.3199_3201del (p.Lys1067del)	SETD1B (K1067del)	Deletion (inframe deletion)	SETD1B-related disorder	GLikely benign
Select item 3044742	NM_001353345.2(SETD1B):c.2079A>C (p.Pro693=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3043827	NM_001353345.2(SETD1B):c.4561C>T (p.Arg1521Trp)	SETD1B (R1521W)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 3043546	NM_001353345.2(SETD1B):c.3134C>T (p.Ser1045Leu)	SETD1B (S1045L)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GLikely benign
Select item 3043362	NM_001353345.2(SETD1B):c.4746T>G (p.Pro1582=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3042963	NM_001353345.2(SETD1B):c.4752A>C (p.Pro1584=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3042821	NM_001353345.2(SETD1B):c.1998G>A (p.Ala666=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GBenign
Select item 3041623	NM_001353345.2(SETD1B):c.975C>T (p.His325=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3040799	NM_001353345.2(SETD1B):c.1824C>T (p.Ser608=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3040548	NM_001353345.2(SETD1B):c.5691C>T (p.Cys1897=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3038945	NM_001353345.2(SETD1B):c.1113A>G (p.Gln371=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3038822	NM_001353345.2(SETD1B):c.3579G>A (p.Glu1193=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3038298	NM_001353345.2(SETD1B):c.*5C>T	SETD1B	Single nucleotide variant (3 prime UTR variant)	SETD1B-related disorder	GBenign
Select item 3037247	NM_001353345.2(SETD1B):c.5544G>A (p.Ala1848=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3037185	NM_001353345.2(SETD1B):c.408C>T (p.Tyr136=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3036996	NM_001353345.2(SETD1B):c.2403G>A (p.Ala801=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3036469	NM_001353345.2(SETD1B):c.4394C>A (p.Pro1465Gln)	SETD1B (P1465Q)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GLikely benign
Select item 3035467	NM_001353345.2(SETD1B):c.3021T>C (p.Cys1007=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3033750	NM_001353345.2(SETD1B):c.2742C>T (p.Gly914=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 3031514	NM_001353345.2(SETD1B):c.3179C>T (p.Pro1060Leu)	SETD1B (P1060L)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 3027406	GRCh37/hg19 12q24.31(chr12:122265641-122265976)x3	SETD1B	Copy number gain	not provided	GUncertain significance
Select item 3027140	NM_001353345.2(SETD1B):c.3961dup (p.Leu1321fs)	SETD1B (L1321fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3026855	NM_001353345.2(SETD1B):c.3153A>C (p.Ser1051=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026320	NM_001353345.2(SETD1B):c.2548A>G (p.Met850Val)	SETD1B (M850V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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