ClinVar for Gene (Select 29956) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266326	NM_022075.5(CERS2):c.649A>G (p.Ile217Val)	CERS2 (I217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266325	NM_022075.5(CERS2):c.235C>T (p.Pro79Ser)	CERS2 (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266324	NM_022075.5(CERS2):c.1088G>A (p.Arg363Gln)	CERS2 (R363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143157	NM_022075.5(CERS2):c.601G>A (p.Val201Ile)	CERS2 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143156	NM_022075.5(CERS2):c.318G>T (p.Gln106His)	CERS2 (Q106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143155	NM_022075.5(CERS2):c.1130G>C (p.Arg377Pro)	CERS2 (R377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143154	NM_022075.5(CERS2):c.1027C>G (p.Arg343Gly)	CERS2 (R343G)	Single nucleotide variant (missense variant)	not specified	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 2639166	NM_022075.5(CERS2):c.799G>A (p.Val267Ile)	CERS2 (V267I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2618893	NM_022075.5(CERS2):c.761A>G (p.Tyr254Cys)	CERS2 (Y254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2543465	NM_022075.5(CERS2):c.121A>G (p.Ile41Val)	CERS2 (I41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508560	NM_022075.5(CERS2):c.38G>A (p.Arg13His)	CERS2 (R13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407934	NM_022075.5(CERS2):c.322G>A (p.Gly108Arg)	CERS2 (G108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403183	NM_022075.5(CERS2):c.586A>C (p.Ser196Arg)	CERS2 (S196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384406	NM_022075.5(CERS2):c.100G>A (p.Ala34Thr)	CERS2 (A34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266327	NM_022075.5(CERS2):c.91C>A (p.Arg31Ser)	CERS2 (R31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260286	NM_022075.5(CERS2):c.1117A>G (p.Asn373Asp)	CERS2 (N373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240867	NM_022075.5(CERS2):c.1087C>T (p.Arg363Trp)	CERS2 (R363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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 780785	NM_022075.5(CERS2):c.762C>T (p.Tyr254=)	CERS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770856	NM_022075.5(CERS2):c.456C>T (p.Ala152=)	CERS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770855	NM_022075.5(CERS2):c.597T>C (p.Ser199=)	CERS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689710	NM_022075.5(CERS2):c.358C>T (p.Arg120Cys)	CERS2 (R120C)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +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
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33