SETDB1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 779065	NM_001366418.1(SETDB1):c.261-3T>C	SETDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746399	NM_001366418.1(SETDB1):c.315A>G (p.Leu105=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723281	NM_001366418.1(SETDB1):c.413-9C>T	SETDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067530	NM_001366418.1(SETDB1):c.427A>C (p.Arg143=)	SETDB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3067292	NM_001366418.1(SETDB1):c.447+3A>G	SETDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2269939	NM_001366418.1(SETDB1):c.486A>C (p.Gln162His)	SETDB1 (Q162H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 741008	NM_001366418.1(SETDB1):c.552C>T (p.Thr184=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740663	NM_001366418.1(SETDB1):c.651C>G (p.Thr217=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623703	NM_001366418.1(SETDB1):c.674-2A>G	SETDB1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 724032	NM_001366418.1(SETDB1):c.723A>G (p.Leu241=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298861	NM_001366418.1(SETDB1):c.779T>C (p.Val260Ala)	SETDB1 (V260A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403884	NM_001366418.1(SETDB1):c.946C>G (p.Pro316Ala)	SETDB1 (P316A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 741352	NM_001366418.1(SETDB1):c.960T>C (p.Thr320=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1292241	NM_001366418.1(SETDB1):c.1140+39dup	SETDB1 (G394fs)	Duplication (frameshift variant +2 more)	not provided	GBenign
Select item 2284237	NM_001366418.1(SETDB1):c.1238A>G (p.Gln413Arg)	SETDB1 (Q413R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282785	NM_001366418.1(SETDB1):c.1262A>G (p.Asn421Ser)	SETDB1 (N421S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 725264	NM_001366418.1(SETDB1):c.1339C>T (p.Pro447Ser)	SETDB1 (P447S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722333	NM_001366418.1(SETDB1):c.1407C>G (p.Pro469=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773152	NM_001366418.1(SETDB1):c.1589C>T (p.Pro530Leu)	SETDB1 (P529L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2428532	NM_001366418.1(SETDB1):c.1832G>A (p.Arg611Gln)	SETDB1 (R610Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 753682	NM_001366418.1(SETDB1):c.2216+8G>C	SETDB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737622	NM_001366418.1(SETDB1):c.2268A>G (p.Pro756=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738300	NM_001366418.1(SETDB1):c.2274C>G (p.Gly758=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764100	NM_001366418.1(SETDB1):c.2859T>C (p.Leu953=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788766	NM_001366418.1(SETDB1):c.2933C>T (p.Pro978Leu)	SETDB1 (P977L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710875	NM_001366418.1(SETDB1):c.3065C>T (p.Ala1022Val)	SETDB1 (A1021V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2606310	NM_001366418.1(SETDB1):c.3251A>G (p.His1084Arg)	SETDB1 (H1083R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 773638	NM_001366418.1(SETDB1):c.3272C>T (p.Ala1091Val)	SETDB1 (A1090V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639165	NM_001366418.1(SETDB1):c.3384G>A (p.Ala1128=)	SETDB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2213045	NM_001366418.1(SETDB1):c.3450G>T (p.Lys1150Asn)	SETDB1 (K1150N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479988	NM_001366418.1(SETDB1):c.3509T>G (p.Leu1170Arg)	SETDB1 (L1170R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 738689	NM_001366418.1(SETDB1):c.3777G>T (p.Gly1259=)	SETDB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2572364	NM_001366418.1(SETDB1):c.3787_3790del (p.Thr1263fs)	SETDB1 (T1261fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, CLK2 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979297	GRCh37/hg19 1q21.3(chr1:150611086-150941270)x1	CTSK, SETDB1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	FMO5, GABPB2 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 45