ClinVar for MedGen (Select 1740295) - ClinVar

Links from MedGen

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2689950	NM_001353345.2(SETD1B):c.3671C>T (p.Ala1224Val)	SETD1B (A1224V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2689949	NM_001353345.2(SETD1B):c.17C>G (p.Pro6Arg)	SETD1B (P6R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2683932	NM_001353345.2(SETD1B):c.5263A>G (p.Ile1755Val)	SETD1B (I1755V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2671786	NM_001353345.2(SETD1B):c.3322G>A (p.Asp1108Asn)	SETD1B (D1108N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2626945	NM_001353345.2(SETD1B):c.2943del (p.Arg982fs)	SETD1B (R982fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2582414	NM_001353345.2(SETD1B):c.4390T>C (p.Ser1464Pro)	SETD1B (S1464P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2580203	NM_001353345.2(SETD1B):c.5372C>G (p.Thr1791Ser)	SETD1B (T1791S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2572639	NM_001353345.2(SETD1B):c.5325dup (p.Ala1776fs)	SETD1B (A1776fs)	Duplication (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2505247	NM_001353345.2(SETD1B):c.5384C>T (p.Ser1795Leu)	SETD1B (S1795L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2505213	NM_001353345.2(SETD1B):c.2158del (p.His720fs)	SETD1B (H720fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2500709	NM_001353345.2(SETD1B):c.1196C>A (p.Pro399Gln)	SETD1B (P399Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2498280	NM_001353345.2(SETD1B):c.3386C>T (p.Ala1129Val)	SETD1B	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2498279	NM_001353345.2(SETD1B):c.337_363inv (p.Asn113_Asp121delinsValProGlnGluValPheThrAspVal)	SETD1B	Inversion (missense variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2498278	NM_001353345.2(SETD1B):c.284_286delinsA (p.Phe95_Tyr96delinsTer)	SETD1B	Indel (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2498277	NM_001353345.2(SETD1B):c.5702C>A (p.Ala1901Glu)	SETD1B	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2441992	NM_001353345.2(SETD1B):c.5171-5C>G	SETD1B	Single nucleotide variant (intron variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2438172	NM_001353345.2(SETD1B):c.62C>A (p.Ser21Ter)	SETD1B (S21*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2435855	NM_001353345.2(SETD1B):c.2402C>T (p.Ala801Val)	SETD1B (A801V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435854	NM_001353345.2(SETD1B):c.1424A>T (p.Glu475Val)	SETD1B (E475V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435853	NM_001353345.2(SETD1B):c.273+2T>C	SETD1B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435852	NM_001353345.2(SETD1B):c.931C>T (p.Arg311Trp)	SETD1B (R311W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435851	NM_001353345.2(SETD1B):c.4673C>A (p.Thr1558Asn)	SETD1B (T1558N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435850	NM_001353345.2(SETD1B):c.4630G>A (p.Ala1544Thr)	SETD1B (A1544T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435849	NM_001353345.2(SETD1B):c.2776G>C (p.Asp926His)	SETD1B (D926H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435848	NM_001353345.2(SETD1B):c.4133C>T (p.Thr1378Met)	SETD1B (T1378M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435847	NM_001353345.2(SETD1B):c.1004C>T (p.Ala335Val)	SETD1B (A335V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +1 more	GConflicting classifications of pathogenicity
Select item 2433313	NM_001353345.2(SETD1B):c.4170del (p.Gly1392fs)	SETD1B (G1392fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2433311	NM_001353345.2(SETD1B):c.2241del (p.Pro749fs)	SETD1B (P749fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2431789	NM_001353345.2(SETD1B):c.4195A>T (p.Ser1399Cys)	SETD1B (S1399C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2431532	NM_001353345.2(SETD1B):c.5796_5797dup (p.Ile1933fs)	SETD1B (I1933fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2236999	NM_001353345.2(SETD1B):c.22dup (p.His8fs)	SETD1B (H8fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2115050	NM_001353345.2(SETD1B):c.3017C>A (p.Pro1006His)	SETD1B (P1006H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +2 more	GUncertain significance
Select item 1992426	NM_001353345.2(SETD1B):c.214del (p.Arg72fs)	SETD1B (R72fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1878617	NM_001353345.2(SETD1B):c.3247G>A (p.Glu1083Lys)	SETD1B (E1083K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1805935	NM_001353345.2(SETD1B):c.5008C>T (p.Arg1670Trp)	SETD1B (R1670W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1805554	NM_001353345.2(SETD1B):c.489C>G (p.His163Gln)	SETD1B (H163Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1805535	NM_001353345.2(SETD1B):c.2456G>A (p.Gly819Asp)	SETD1B (G819D)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1804117	NM_001353345.2(SETD1B):c.3595del (p.Glu1199fs)	SETD1B (E1199fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1803069	NM_001353345.2(SETD1B):c.5860T>C (p.Cys1954Arg)	SETD1B (C1954R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1802554	NM_001353345.2(SETD1B):c.598del (p.Gln200fs)	SETD1B (Q200fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1801351	NM_001353345.2(SETD1B):c.598dup (p.Gln200fs)	SETD1B (Q200fs)	Duplication (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1801339	NM_001353345.2(SETD1B):c.5473C>T (p.Arg1825Trp)	SETD1B (R1825W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +1 more	GConflicting classifications of pathogenicity
Select item 1727208	NM_001353345.2(SETD1B):c.89G>A (p.Arg30Lys)	SETD1B (R30K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1723131	NM_001353345.2(SETD1B):c.4241C>A (p.Ser1414Tyr)	SETD1B (S1414Y)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1709352	NM_001353345.2(SETD1B):c.1878G>C (p.Glu626Asp)	SETD1B (E626D)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1709334	NM_001353345.2(SETD1B):c.185A>G (p.Asn62Ser)	SETD1B (N62S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1709324	NM_001353345.2(SETD1B):c.2301G>T (p.Gln767His)	SETD1B (Q767H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1708117	NM_001353345.2(SETD1B):c.4160C>A (p.Pro1387His)	SETD1B (P1387H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1708111	NM_001353345.2(SETD1B):c.4900G>A (p.Glu1634Lys)	SETD1B (E1634K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1705692	NM_001353345.2(SETD1B):c.1085del (p.Gly362fs)	SETD1B (G362fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1705379	NM_001353345.2(SETD1B):c.4588C>T (p.Leu1530Phe)	SETD1B (L1530F)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1700121	NM_001353345.2(SETD1B):c.5375G>A (p.Arg1792Gln)	SETD1B (R1792Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +2 more	GPathogenic/Likely pathogenic
Select item 1699357	NM_001353345.2(SETD1B):c.2249C>T (p.Pro750Leu)	SETD1B (P750L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1699143	NM_001353345.2(SETD1B):c.3584T>C (p.Met1195Thr)	SETD1B (M1195T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1698972	NM_001353345.2(SETD1B):c.20C>T (p.Pro7Leu)	SETD1B (P7L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1698750	NM_001353345.2(SETD1B):c.3164C>G (p.Ser1055Cys)	SETD1B (S1055C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely benign
Select item 1696520	NM_001353345.2(SETD1B):c.4766A>G (p.Gln1589Arg)	SETD1B (Q1589R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1696466	NM_001353345.2(SETD1B):c.4465G>A (p.Val1489Ile)	SETD1B (V1489I)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1693309	NM_001353345.2(SETD1B):c.4688G>A (p.Ser1563Asn)	SETD1B (S1563N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1687475	NM_001353345.2(SETD1B):c.4170_4171del (p.Gly1392fs)	SETD1B (G1392fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1679676	NM_001353345.2(SETD1B):c.5009G>A (p.Arg1670Gln)	SETD1B (R1670Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1679173	NM_001353345.2(SETD1B):c.5408G>T (p.Arg1803Leu)	SETD1B (R1803L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1679142	NM_001353345.2(SETD1B):c.293_294insAACGTGGG (p.Pro99fs)	SETD1B (P99fs)	Insertion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1342617	NM_001353345.2(SETD1B):c.2755G>A (p.Glu919Lys)	SETD1B (E919K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1342590	NM_001353345.2(SETD1B):c.3737G>T (p.Arg1246Leu)	SETD1B (R1246L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1342451	NM_001353345.2(SETD1B):c.2672G>A (p.Arg891Gln)	SETD1B (R891Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1342327	NM_001353345.2(SETD1B):c.4361G>A (p.Arg1454Gln)	SETD1B (R1454Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1341790	NM_001353345.2(SETD1B):c.3331A>G (p.Ser1111Gly)	SETD1B (S1111G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +1 more	GUncertain significance
Select item 1339943	NM_001353345.2(SETD1B):c.4315C>G (p.Pro1439Ala)	SETD1B (P1439A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1332879	NM_001353345.2(SETD1B):c.5619T>G (p.Tyr1873Ter)	SETD1B (Y1873*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1330195	GRCh37/hg19 6q27(chr6:169830713-171022896)x1	C6orf120, DLL1 +8 more	Copy number loss	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1329008	NM_001353345.2(SETD1B):c.544+2T>C	SETD1B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1321921	NM_001353345.2(SETD1B):c.1371dup (p.Asp458fs)	SETD1B (D458fs)	Duplication (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1320160	NM_001353345.2(SETD1B):c.5637dup (p.Ser1880fs)	SETD1B (S1880fs)	Duplication (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1299419	NM_001353345.2(SETD1B):c.3878C>T (p.Ala1293Val)	SETD1B (A1293V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1213710	NM_001353345.2(SETD1B):c.4757T>G (p.Leu1586Arg)	SETD1B (L1586R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +1 more	GUncertain significance
Select item 1213699	NM_001353345.2(SETD1B):c.1579C>T (p.Gln527Ter)	SETD1B (Q527*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1188504	NM_001353345.2(SETD1B):c.5842G>A (p.Glu1948Lys)	SETD1B (E1948K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1064508	NM_001353345.2(SETD1B):c.386T>G (p.Val129Gly)	SETD1B (V129G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 983436	NM_001353345.2(SETD1B):c.2258_2264del (p.Leu752_Phe753insTer)	SETD1B	Deletion (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 977512	NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys)	SETD1B (R1902C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 977511	NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp)	SETD1B (R1885W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 977482	NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu)	SETD1B	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 977481	NM_001353345.2(SETD1B):c.3964C>T (p.Gln1322Ter)	SETD1B	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 977480	NM_001353345.2(SETD1B):c.2932C>T (p.Gln978Ter)	SETD1B	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 977479	NM_001353345.2(SETD1B):c.3901C>T (p.Arg1301Ter)	SETD1B	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 977478	NM_001353345.2(SETD1B):c.5773_5776del (p.Ile1925fs)	SETD1B (I1925fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GPathogenic

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Items: 91