"PreventionGenetics, part of Exact Sciences"[submitter] AND "SETD1B"[g - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2637318	NM_001353345.2(SETD1B):c.24C>G (p.His8Gln)	SETD1B (H8Q)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2643417	NM_001353345.2(SETD1B):c.225G>A (p.Gly75=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	GBenign/Likely 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 3050587	NM_001353345.2(SETD1B):c.624C>T (p.Asp208=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GBenign
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 2635108	NM_001353345.2(SETD1B):c.919A>G (p.Thr307Ala)	SETD1B (T307A)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2631193	NM_001353345.2(SETD1B):c.932G>A (p.Arg311Gln)	SETD1B (R311Q)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
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 2643421	NM_001353345.2(SETD1B):c.1013C>T (p.Ala338Val)	SETD1B (A338V)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GLikely benign
Select item 1694682	NM_001353345.2(SETD1B):c.1058C>T (p.Pro353Leu)	SETD1B (P353L)	Single nucleotide variant (missense variant)	not provided +1 more	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 2643428	NM_001353345.2(SETD1B):c.1232C>T (p.Pro411Leu)	SETD1B (P411L)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GBenign/Likely benign
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 2631239	NM_001353345.2(SETD1B):c.1292C>T (p.Ala431Val)	SETD1B (A431V)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 3050591	NM_001353345.2(SETD1B):c.1371C>T (p.Pro457=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 2636455	NM_001353345.2(SETD1B):c.1463C>A (p.Ser488Tyr)	SETD1B (S488Y)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2643433	NM_001353345.2(SETD1B):c.1478A>G (p.Glu493Gly)	SETD1B (E493G)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GLikely benign
Select item 2212461	NM_001353345.2(SETD1B):c.1478A>C (p.Glu493Ala)	SETD1B (E493A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2643434	NM_001353345.2(SETD1B):c.1488C>T (p.His496=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	GLikely benign
Select item 2643435	NM_001353345.2(SETD1B):c.1495C>T (p.Leu499=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	GLikely benign
Select item 2430976	NM_001353345.2(SETD1B):c.1638T>G (p.Phe546Leu)	SETD1B (F546L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2351579	NM_001353345.2(SETD1B):c.1654C>T (p.Pro552Ser)	SETD1B (P552S)	Single nucleotide variant (missense variant)	SETD1B-related disorder +2 more	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 3054005	NM_001353345.2(SETD1B):c.1943C>T (p.Ser648Leu)	SETD1B (S648L)	Single nucleotide variant (missense 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 2643441	NM_001353345.2(SETD1B):c.2076C>A (p.Pro692=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	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 2643445	NM_001353345.2(SETD1B):c.2199G>A (p.Pro733=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	GBenign/Likely 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 3050441	NM_001353345.2(SETD1B):c.2478C>T (p.Ser826=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GBenign
Select item 2643451	NM_001353345.2(SETD1B):c.2511G>A (p.Leu837=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	GLikely benign
Select item 2643452	NM_001353345.2(SETD1B):c.2526G>A (p.Pro842=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	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 2632806	NM_001353345.2(SETD1B):c.2981C>A (p.Ser994Tyr)	SETD1B (S994Y)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2635478	NM_001353345.2(SETD1B):c.3008C>T (p.Ala1003Val)	SETD1B (A1003V)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
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 2643458	NM_001353345.2(SETD1B):c.3074G>A (p.Arg1025Gln)	SETD1B (R1025Q)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GBenign/Likely benign
Select item 2631674	NM_001353345.2(SETD1B):c.3100del (p.Glu1034fs)	SETD1B (E1034fs)	Deletion (frameshift variant)	SETD1B-related disorder	GPathogenic
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 3043546	NM_001353345.2(SETD1B):c.3134C>T (p.Ser1045Leu)	SETD1B (S1045L)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GLikely benign
Select item 2643460	NM_001353345.2(SETD1B):c.3147G>A (p.Ala1049=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	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 2633095	NM_001353345.2(SETD1B):c.3189G>A (p.Ser1063=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GUncertain significance
Select item 3045743	NM_001353345.2(SETD1B):c.3199_3201del (p.Lys1067del)	SETD1B (K1067del)	Deletion (inframe deletion)	SETD1B-related disorder	GLikely benign
Select item 2042877	NM_001353345.2(SETD1B):c.3203A>G (p.Glu1068Gly)	SETD1B (E1068G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2245941	NM_001353345.2(SETD1B):c.3430A>G (p.Ser1144Gly)	SETD1B (S1144G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2498571	NM_001353345.2(SETD1B):c.3525G>A (p.Ser1175=)	SETD1B	Single nucleotide variant (synonymous variant)	not provided +1 more	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 1319772	NM_001353345.2(SETD1B):c.3587T>A (p.Val1196Glu)	SETD1B (V1196E)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2213850	NM_001353345.2(SETD1B):c.3638G>A (p.Gly1213Glu)	SETD1B (G1213E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2643466	NM_001353345.2(SETD1B):c.3736C>T (p.Arg1246Trp)	SETD1B (R1246W)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GBenign/Likely benign
Select item 2629912	NM_001353345.2(SETD1B):c.3847del (p.Ser1283fs)	SETD1B (S1283fs)	Deletion (frameshift variant)	SETD1B-related disorder	GLikely pathogenic
Select item 2636988	NM_001353345.2(SETD1B):c.3920T>C (p.Leu1307Pro)	SETD1B (L1307P)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
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 3058479	NM_001353345.2(SETD1B):c.4035C>T (p.Ala1345=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder	GLikely benign
Select item 1694685	NM_001353345.2(SETD1B):c.4055C>T (p.Pro1352Leu)	SETD1B (P1352L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2630184	NM_001353345.2(SETD1B):c.4059G>T (p.Glu1353Asp)	SETD1B (E1353D)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
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 1711357	NM_001353345.2(SETD1B):c.4150G>C (p.Gly1384Arg)	SETD1B (G1384R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2643471	NM_001353345.2(SETD1B):c.4243C>A (p.Pro1415Thr)	SETD1B (P1415T)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GBenign/Likely 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 3051752	NM_001353345.2(SETD1B):c.4389C>T (p.Ala1463=)	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 3043827	NM_001353345.2(SETD1B):c.4561C>T (p.Arg1521Trp)	SETD1B (R1521W)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2634889	NM_001353345.2(SETD1B):c.4571G>A (p.Arg1524Gln)	SETD1B (R1524Q)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2578695	NM_001353345.2(SETD1B):c.4678G>A (p.Val1560Ile)	SETD1B (V1560I)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GBenign/Likely benign
Select item 2643475	NM_001353345.2(SETD1B):c.4740A>C (p.Pro1580=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	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 2672528	NM_001353345.2(SETD1B):c.4749A>C (p.Pro1583=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	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 2643477	NM_001353345.2(SETD1B):c.4802C>T (p.Pro1601Leu)	SETD1B (P1601L)	Single nucleotide variant (missense variant)	SETD1B-related disorder +1 more	GBenign/Likely benign
Select item 2375227	NM_001353345.2(SETD1B):c.4859C>T (p.Pro1620Leu)	SETD1B (P1620L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2632306	NM_001353345.2(SETD1B):c.4906G>C (p.Ala1636Pro)	SETD1B (A1636P)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2629389	NM_001353345.2(SETD1B):c.4949A>G (p.His1650Arg)	SETD1B (H1650R)	Single nucleotide variant (missense variant)	SETD1B-related disorder	GUncertain significance
Select item 2643480	NM_001353345.2(SETD1B):c.4977G>A (p.Ser1659=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	GLikely benign
Select item 2643481	NM_001353345.2(SETD1B):c.4983A>G (p.Glu1661=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	GBenign/Likely benign
Select item 1711358	NM_001353345.2(SETD1B):c.5084G>A (p.Arg1695His)	SETD1B (R1695H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 2643486	NM_001353345.2(SETD1B):c.5568C>T (p.Tyr1856=)	SETD1B	Single nucleotide variant (synonymous variant)	SETD1B-related disorder +1 more	GBenign/Likely 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 3038298	NM_001353345.2(SETD1B):c.*5C>T	SETD1B	Single nucleotide variant (3 prime UTR variant)	SETD1B-related disorder	GBenign

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Items: 84