SETD1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 1708243	NM_014712.3(SETD1A):c.7C>T (p.Gln3Ter)	SETD1A (Q3*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 3160590	NM_014712.3(SETD1A):c.34G>A (p.Ala12Thr)	SETD1A (A12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3368203	NM_014712.3(SETD1A):c.38C>T (p.Pro13Leu)	SETD1A (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233754	NM_014712.3(SETD1A):c.42C>G (p.Ser14Arg)	SETD1A (S14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 973880	NM_014712.3(SETD1A):c.46C>T (p.Gln16Ter)	SETD1A (Q16*)	Single nucleotide variant (nonsense)	Epilepsy, early-onset, with or without developmental delay	GLikely pathogenic
Select item 795904	NM_014712.3(SETD1A):c.102G>A (p.Arg34=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025831	NM_014712.3(SETD1A):c.103C>T (p.Pro35Ser)	SETD1A (P35S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2320604	NM_014712.3(SETD1A):c.104C>T (p.Pro35Leu)	SETD1A (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3376089	NM_014712.3(SETD1A):c.136C>T (p.His46Tyr)	SETD1A (H46Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3044601	NM_014712.3(SETD1A):c.138C>T (p.His46=)	SETD1A	Single nucleotide variant (synonymous variant)	SETD1A-related disorder	GLikely benign
Select item 2445730	NM_014712.3(SETD1A):c.151-2A>G	SETD1A	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GLikely pathogenic
Select item 3160576	NM_014712.3(SETD1A):c.154_155del (p.Ser52fs)	SETD1A (S52fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2219217	NM_014712.3(SETD1A):c.163A>G (p.Ile55Val)	SETD1A (I55V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3369625	NM_014712.3(SETD1A):c.167C>T (p.Pro56Leu)	SETD1A (P56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535760	NM_014712.3(SETD1A):c.178C>A (p.Leu60Ile)	SETD1A (L60I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742492	NM_014712.3(SETD1A):c.189C>T (p.Pro63=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2279718	NM_014712.3(SETD1A):c.190C>T (p.Arg64Cys)	SETD1A (R64C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2578069	NM_014712.3(SETD1A):c.194G>A (p.Cys65Tyr)	SETD1A (C65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274151	NM_014712.3(SETD1A):c.205T>C (p.Ser69Pro)	SETD1A (S69P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678255	NM_014712.3(SETD1A):c.205T>A (p.Ser69Thr)	SETD1A (S69T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521559	NM_014712.3(SETD1A):c.214del (p.Arg72fs)	SETD1A (R72fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1521607	NM_014712.3(SETD1A):c.215G>T (p.Arg72Ile)	SETD1A (R72I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2466269	NM_014712.3(SETD1A):c.220T>G (p.Phe74Val)	SETD1A (F74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371965	NM_014712.3(SETD1A):c.224C>T (p.Ser75Phe)	SETD1A (S75F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242103	NM_014712.3(SETD1A):c.246+4A>G	SETD1A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 150706	GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1	HSD3B7, LOC130058885 +6 more	Copy number loss	See cases	GLikely benign
Select item 2629740	NM_014712.3(SETD1A):c.247-2A>C	SETD1A	Single nucleotide variant (splice acceptor variant)	SETD1A-related disorder	GUncertain significance
Select item 2491233	NM_014712.3(SETD1A):c.260A>G (p.Tyr87Cys)	SETD1A (Y87C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317705	NM_014712.3(SETD1A):c.271A>G (p.Ile91Val)	SETD1A (I91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3378411	NM_014712.3(SETD1A):c.336del (p.Asp112fs)	SETD1A (D112fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 1694793	NM_014712.3(SETD1A):c.343C>T (p.Arg115Cys)	SETD1A (R115C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2671656	NM_014712.3(SETD1A):c.395G>A (p.Arg132His)	SETD1A (R132H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GUncertain significance
Select item 1076067	NM_014712.3(SETD1A):c.442dup (p.Ala148fs)	SETD1A (A148fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2662996	NM_014712.3(SETD1A):c.442G>A (p.Ala148Thr)	SETD1A (A148T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2646420	NM_014712.3(SETD1A):c.453G>A (p.Thr151=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577105	NM_014712.3(SETD1A):c.458A>G (p.Lys153Arg)	SETD1A (K153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560290	NM_014712.3(SETD1A):c.503A>T (p.Gln168Leu)	SETD1A (Q168L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789225	NM_014712.3(SETD1A):c.518-10C>T	SETD1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224650	NM_014712.3(SETD1A):c.518-2A>G	SETD1A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1878499	NM_014712.3(SETD1A):c.526C>T (p.Arg176Ter)	SETD1A (R176*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 1315640	NM_014712.3(SETD1A):c.609G>T (p.Lys203Asn)	SETD1A (K203N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435841	NM_014712.3(SETD1A):c.620C>T (p.Ser207Leu)	SETD1A (S207L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251763	NM_014712.3(SETD1A):c.632C>T (p.Thr211Ile)	SETD1A (T211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525916	NM_014712.3(SETD1A):c.638C>T (p.Thr213Met)	SETD1A (T213M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2256931	NM_014712.3(SETD1A):c.643G>A (p.Glu215Lys)	SETD1A (E215K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160597	NM_014712.3(SETD1A):c.644A>C (p.Glu215Ala)	SETD1A (E215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160598	NM_014712.3(SETD1A):c.645A>C (p.Glu215Asp)	SETD1A (E215D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676791	NM_014712.3(SETD1A):c.650G>A (p.Arg217His)	SETD1A (R217H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2435845	NM_014712.3(SETD1A):c.652C>T (p.Arg218Cys)	SETD1A (R218C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435838	NM_014712.3(SETD1A):c.655C>T (p.Arg219Cys)	SETD1A (R219C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2534002	NM_014712.3(SETD1A):c.667G>A (p.Asp223Asn)	SETD1A (D223N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342473	NM_014712.3(SETD1A):c.667G>C (p.Asp223His)	SETD1A (D223H)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, with or without developmental delay +1 more	GUncertain significance
Select item 3160599	NM_014712.3(SETD1A):c.671C>A (p.Thr224Lys)	SETD1A (T224K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3339526	NM_014712.3(SETD1A):c.694A>G (p.Thr232Ala)	SETD1A (T232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160600	NM_014712.3(SETD1A):c.695C>T (p.Thr232Ile)	SETD1A (T232I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392597	NM_014712.3(SETD1A):c.698C>T (p.Ala233Val)	SETD1A (A233V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2646421	NM_014712.3(SETD1A):c.699G>A (p.Ala233=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343187	NM_014712.3(SETD1A):c.706A>C (p.Thr236Pro)	SETD1A (T236P)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2536702	NM_014712.3(SETD1A):c.707C>T (p.Thr236Ile)	SETD1A (T236I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637500	NM_014712.3(SETD1A):c.716A>T (p.Asn239Ile)	SETD1A (N239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646422	NM_014712.3(SETD1A):c.717C>T (p.Asn239=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2210399	NM_014712.3(SETD1A):c.718G>A (p.Gly240Ser)	SETD1A (G240S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239447	NM_014712.3(SETD1A):c.722C>T (p.Thr241Ile)	SETD1A (T241I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782787	NM_014712.3(SETD1A):c.726C>T (p.Pro242=)	SETD1A	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies +2 more	GBenign/Likely benign
Select item 3317701	NM_014712.3(SETD1A):c.731C>T (p.Ser244Phe)	SETD1A (S244F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298662	NM_014712.3(SETD1A):c.747C>T (p.Phe249=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343165	NM_014712.3(SETD1A):c.754A>G (p.Ser252Gly)	SETD1A (S252G)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 1330308	NM_014712.3(SETD1A):c.757C>T (p.Arg253Ter)	SETD1A (R253*)	Single nucleotide variant (nonsense)	Schizophrenia	GPathogenic
Select item 2311923	NM_014712.3(SETD1A):c.758G>A (p.Arg253Gln)	SETD1A (R253Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317695	NM_014712.3(SETD1A):c.767C>T (p.Thr256Ile)	SETD1A (T256I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977352	NM_014712.3(SETD1A):c.773C>T (p.Ser258Phe)	SETD1A (S258F)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 3054311	NM_014712.3(SETD1A):c.783C>T (p.Gly261=)	SETD1A	Single nucleotide variant (synonymous variant)	SETD1A-related disorder	GLikely benign
Select item 834091	NM_014712.3(SETD1A):c.806A>G (p.Gln269Arg)	SETD1A (Q269R)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, with or without developmental delay	GPathogenic
Select item 3160601	NM_014712.3(SETD1A):c.811A>G (p.Thr271Ala)	SETD1A (T271A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2317933	NM_014712.3(SETD1A):c.811A>C (p.Thr271Pro)	SETD1A (T271P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302112	NM_014712.3(SETD1A):c.821C>T (p.Thr274Met)	SETD1A (T274M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2298009	NM_014712.3(SETD1A):c.862T>C (p.Ser288Pro)	SETD1A (S288P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172135	NM_014712.3(SETD1A):c.895C>T (p.Arg299Trp)	SETD1A (R299W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982947	NM_014712.3(SETD1A):c.916C>G (p.Gln306Glu)	SETD1A (Q306E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2646423	NM_014712.3(SETD1A):c.934C>T (p.Arg312Cys)	SETD1A (R312C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320802	NM_014712.3(SETD1A):c.964A>G (p.Thr322Ala)	SETD1A (T322A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342014	NM_014712.3(SETD1A):c.970T>C (p.Ser324Pro)	SETD1A (S324P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2304876	NM_014712.3(SETD1A):c.973A>G (p.Thr325Ala)	SETD1A (T325A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1698220	NM_014712.3(SETD1A):c.988A>G (p.Thr330Ala)	SETD1A (T330A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646424	NM_014712.3(SETD1A):c.990C>T (p.Thr330=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981935	NM_014712.3(SETD1A):c.1014dup (p.Ala339fs)	SETD1A (A339fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with speech impairment and dysmorphic facies	GPathogenic
Select item 3024665	NM_014712.3(SETD1A):c.1022C>T (p.Ser341Phe)	SETD1A (S341F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3237527	NM_014712.3(SETD1A):c.1025C>G (p.Ser342Cys)	SETD1A (S342C)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, with or without developmental delay	GUncertain significance
Select item 3368358	NM_014712.3(SETD1A):c.1041_1049del (p.Ser355_Ser357del)	SETD1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2646425	NM_014712.3(SETD1A):c.1038G>A (p.Ser346=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053151	NM_014712.3(SETD1A):c.1039T>C (p.Ser347Pro)	SETD1A (S347P)	Single nucleotide variant (missense variant)	SETD1A-related disorder	GUncertain significance
Select item 2435844	NM_014712.3(SETD1A):c.1047_1055del (p.Ser355_Ser357del)	SETD1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3042285	NM_014712.3(SETD1A):c.1047G>T (p.Ser349=)	SETD1A	Single nucleotide variant (synonymous variant)	SETD1A-related disorder	GLikely benign
Select item 1342591	NM_014712.3(SETD1A):c.1064C>T (p.Ser355Leu)	SETD1A (S355L)	Single nucleotide variant (missense variant)	SETD1A-related disorder +2 more	GUncertain significance
Select item 2646426	NM_014712.3(SETD1A):c.1065G>C (p.Ser355=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160572	NM_014712.3(SETD1A):c.1123C>T (p.Arg375Cys)	SETD1A (R375C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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