CIART[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 149773	GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3	ADAMTSL4, ADAMTSL4-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 2589014	NM_144697.4(CIART):c.35C>A (p.Ser12Tyr)	CIART (S12Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356658	NM_144697.4(CIART):c.41C>T (p.Ser14Phe)	CIART (S14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267321	NM_144697.4(CIART):c.130C>A (p.Pro44Thr)	CIART (P44T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144903	NM_144697.4(CIART):c.214G>A (p.Gly72Ser)	CIART (G72S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2557238	NM_144697.4(CIART):c.224A>G (p.His75Arg)	CIART (H75R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401535	NM_144697.4(CIART):c.238C>G (p.Pro80Ala)	CIART (P80A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305598	NM_144697.4(CIART):c.248G>A (p.Arg83Gln)	CIART (R83Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319816	NM_144697.4(CIART):c.271G>C (p.Gly91Arg)	CIART (G3R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144904	NM_144697.4(CIART):c.311C>A (p.Thr104Asn)	CIART (T16N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256122	NM_144697.4(CIART):c.376C>T (p.Leu126Phe)	CIART (L126F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339301	NM_144697.4(CIART):c.382G>A (p.Gly128Arg)	CIART (G128R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311890	NM_144697.4(CIART):c.480G>T (p.Arg160Ser)	CIART (R160S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788717	NM_144697.4(CIART):c.486G>A (p.Gln162=)	CIART	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144906	NM_144697.4(CIART):c.539C>A (p.Thr180Asn)	CIART (T180N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471434	NM_144697.4(CIART):c.718C>G (p.Leu240Val)	CIART (L152V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298475	NM_144697.4(CIART):c.722C>T (p.Ala241Val)	CIART (A153V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144907	NM_144697.4(CIART):c.748C>T (p.Leu250Phe)	CIART (L250F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593028	NM_144697.4(CIART):c.856A>C (p.Thr286Pro)	CIART (T286P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359835	NM_144697.4(CIART):c.891G>T (p.Gln297His)	CIART (Q209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474652	NM_144697.4(CIART):c.1009A>G (p.Ser337Gly)	CIART (S337G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529493	NM_144697.4(CIART):c.1019T>A (p.Val340Glu)	CIART (V252E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267322	NM_144697.4(CIART):c.1049T>C (p.Leu350Pro)	CIART (L350P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407874	NM_144697.4(CIART):c.1075G>C (p.Ala359Pro)	CIART (A271P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144901	NM_144697.4(CIART):c.1090A>G (p.Ile364Val)	CIART (I276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352103	NM_144697.4(CIART):c.1100G>A (p.Arg367Gln)	CIART (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267323	NM_144697.4(CIART):c.1121C>T (p.Pro374Leu)	CIART (P286L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144902	NM_144697.4(CIART):c.1123C>G (p.Pro375Ala)	CIART (P287A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541191	NM_144697.4(CIART):c.1130C>T (p.Ala377Val)	CIART (A289V +1 more)	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 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	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 2425201	NC_000001.10:g.(?_150039915)_(150464158_?)dup	ANP32E, APH1A +9 more	Duplication	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1411622	NC_000001.10:g.(?_150044213)_(150477474_?)dup	ANP32E, APH1A +9 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	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 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

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Items: 43