"GeneDx"[submitter] AND "SETD1A"[gene] - ClinVar

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Items: 82

	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 3368203	NM_014712.3(SETD1A):c.38C>T (p.Pro13Leu)	SETD1A (P13L)	Single nucleotide variant (missense variant)	not provided	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 3369625	NM_014712.3(SETD1A):c.167C>T (p.Pro56Leu)	SETD1A (P56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2662996	NM_014712.3(SETD1A):c.442G>A (p.Ala148Thr)	SETD1A (A148T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1315640	NM_014712.3(SETD1A):c.609G>T (p.Lys203Asn)	SETD1A (K203N)	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 1698220	NM_014712.3(SETD1A):c.988A>G (p.Thr330Ala)	SETD1A (T330A)	Single nucleotide variant (missense variant)	not provided	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 3370273	NM_014712.3(SETD1A):c.1197_1208del (p.Asn400_Glu403del)	SETD1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2576649	NM_014712.3(SETD1A):c.1265A>G (p.Asp422Gly)	SETD1A (D422G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706891	NM_014712.3(SETD1A):c.1304C>G (p.Pro435Arg)	SETD1A (P435R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372226	NM_014712.3(SETD1A):c.1310C>T (p.Pro437Leu)	SETD1A (P437L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371061	NM_014712.3(SETD1A):c.1312C>T (p.Pro438Ser)	SETD1A (P438S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804380	NM_014712.3(SETD1A):c.1322G>C (p.Gly441Ala)	SETD1A (G441A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372957	NM_014712.3(SETD1A):c.1364_1365inv (p.Glu455Val)	SETD1A (E455V)	Inversion (missense variant)	not provided	GUncertain significance
Select item 3363666	NM_014712.3(SETD1A):c.1376C>G (p.Ser459Cys)	SETD1A (S459C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320414	NM_014712.3(SETD1A):c.1427C>T (p.Thr476Ile)	SETD1A (T476I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662920	NM_014712.3(SETD1A):c.1530_1532del (p.Glu515del)	SETD1A (E515del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3368596	NM_014712.3(SETD1A):c.1609G>T (p.Gly537Trp)	SETD1A (G537W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700441	NM_014712.3(SETD1A):c.1796C>T (p.Thr599Met)	SETD1A (T599M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1326741	NM_014712.3(SETD1A):c.1889C>A (p.Pro630His)	SETD1A (P630H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800796	NM_014712.3(SETD1A):c.1931_1932del (p.Pro644fs)	SETD1A (P644fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1683976	NM_014712.3(SETD1A):c.1943C>G (p.Pro648Arg)	SETD1A (P648R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723024	NM_014712.3(SETD1A):c.1947TCC[1] (p.Pro654del)	SETD1A (P654del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1698119	NM_014712.3(SETD1A):c.2051C>T (p.Thr684Ile)	SETD1A (T684I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505902	NM_014712.3(SETD1A):c.2093G>A (p.Gly698Glu)	SETD1A (G698E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505059	NM_014712.3(SETD1A):c.2116C>T (p.Pro706Ser)	SETD1A (P706S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315707	NM_014712.3(SETD1A):c.2164C>T (p.Gln722Ter)	SETD1A (Q722*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2579612	NM_014712.3(SETD1A):c.2221G>A (p.Gly741Arg)	SETD1A (G741R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331210	NM_014712.3(SETD1A):c.2240C>T (p.Ala747Val)	SETD1A (A747V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371220	NM_014712.3(SETD1A):c.2272C>G (p.Pro758Ala)	SETD1A (P758A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375677	NM_014712.3(SETD1A):c.2350A>T (p.Thr784Ser)	SETD1A (T784S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712557	NM_014712.3(SETD1A):c.2401G>C (p.Glu801Gln)	SETD1A (E801Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662954	NM_014712.3(SETD1A):c.2505G>A (p.Lys835=)	SETD1A	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 3363241	NM_014712.3(SETD1A):c.2909A>G (p.Gln970Arg)	SETD1A (Q970R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681048	NM_014712.3(SETD1A):c.2928+3G>A	SETD1A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3367555	NM_014712.3(SETD1A):c.2933A>T (p.Glu978Val)	SETD1A (E978V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372660	NM_014712.3(SETD1A):c.2954A>G (p.Glu985Gly)	SETD1A (E985G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369597	NM_014712.3(SETD1A):c.3056T>C (p.Leu1019Pro)	SETD1A (L1019P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446684	NM_014712.3(SETD1A):c.3071A>G (p.Asp1024Gly)	SETD1A (D1024G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699516	NM_014712.3(SETD1A):c.3113C>G (p.Ser1038Cys)	SETD1A (S1038C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377982	NM_014712.3(SETD1A):c.3197A>G (p.Glu1066Gly)	SETD1A (E1066G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444737	NM_014712.3(SETD1A):c.3485A>G (p.Lys1162Arg)	SETD1A (K1162R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370618	NM_014712.3(SETD1A):c.3572T>G (p.Phe1191Cys)	SETD1A (F1191C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700986	NM_014712.3(SETD1A):c.3652G>T (p.Val1218Phe)	SETD1A (V1218F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317784	NM_014712.3(SETD1A):c.3679C>T (p.Arg1227Ter)	SETD1A (R1227*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2580113	NM_014712.3(SETD1A):c.3706C>T (p.Arg1236Ter)	SETD1A (R1236*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1319001	NM_014712.3(SETD1A):c.4022dup (p.Val1342fs)	SETD1A (V1342fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3371181	NM_014712.3(SETD1A):c.4024G>A (p.Val1342Met)	SETD1A (V1342M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368608	NM_014712.3(SETD1A):c.4094GGGAGGAAGAGG[3] (p.Glu1372_Glu1373insGlyGluGluGlu)	SETD1A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3371249	NM_014712.3(SETD1A):c.4228C>T (p.Pro1410Ser)	SETD1A (P1410S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878990	NM_014712.3(SETD1A):c.4291T>A (p.Trp1431Arg)	SETD1A (W1431R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364451	NM_014712.3(SETD1A):c.4301G>T (p.Gly1434Val)	SETD1A (G1434V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342979	NM_014712.3(SETD1A):c.4336A>C (p.Thr1446Pro)	SETD1A (T1446P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574531	NM_014712.3(SETD1A):c.4359G>C (p.Gln1453His)	SETD1A (Q1453H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369770	NM_014712.3(SETD1A):c.4429A>C (p.Lys1477Gln)	SETD1A (K1477Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662985	NM_014712.3(SETD1A):c.4430A>C (p.Lys1477Thr)	SETD1A (K1477T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342435	NM_014712.3(SETD1A):c.4484G>A (p.Arg1495His)	SETD1A (R1495H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2574774	NM_014712.3(SETD1A):c.4562T>C (p.Leu1521Pro)	SETD1A (L1521P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369790	NM_014712.3(SETD1A):c.4625G>A (p.Arg1542Gln)	SETD1A (R1542Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489089	NM_014712.3(SETD1A):c.4692+5G>A	SETD1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2506807	NM_014712.3(SETD1A):c.4819G>A (p.Ala1607Thr)	SETD1A (A1607T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430586	NM_014712.3(SETD1A):c.4828C>T (p.Arg1610Trp)	SETD1A (R1610W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376032	NM_014712.3(SETD1A):c.4932C>G (p.Phe1644Leu)	SETD1A (F1644L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2243675	NM_014712.3(SETD1A):c.4960T>C (p.Tyr1654His)	SETD1A (Y1654H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3366132	NM_014712.3(SETD1A):c.4967A>G (p.Lys1656Arg)	SETD1A (K1656R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504689	NM_014712.3(SETD1A):c.5000T>C (p.Val1667Ala)	SETD1A (V1667A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413114	NM_014712.3(SETD1A):c.5033A>G (p.Glu1678Gly)	SETD1A (E1678G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878694	NM_014712.3(SETD1A):c.5054A>G (p.Lys1685Arg)	SETD1A (K1685R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361999	NM_014712.3(SETD1A):c.587G>T (p.Gly196Val)	SETD1A (G196V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361406	NM_014712.3(SETD1A):c.3113C>T (p.Ser1038Phe)	SETD1A (S1038F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361033	NM_014712.3(SETD1A):c.1736C>T (p.Ser579Phe)	SETD1A (S579F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360908	NM_014712.3(SETD1A):c.3220C>G (p.Leu1074Val)	SETD1A (L1074V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360382	NM_014712.3(SETD1A):c.4836G>C (p.Lys1612Asn)	SETD1A (K1612N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360326	NM_014712.3(SETD1A):c.800C>T (p.Ser267Phe)	SETD1A (S267F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676491	NM_014712.3(SETD1A):c.1604G>A (p.Gly535Glu)	SETD1A (G535E)	Single nucleotide variant	not provided	GUncertain significance

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Items: 82