CRCT1[gene] - ClinVar - NCBI

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Items: 18

	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 149775	GRCh38/hg38 1q21.3(chr1:152365299-152618044)x3	CRCT1, CRNN +8 more	Copy number gain	See cases	GLikely benign
Select item 2598419	NM_019060.3(CRCT1):c.80C>G (p.Pro27Arg)	CRCT1 (P27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204475	NM_019060.3(CRCT1):c.116G>A (p.Cys39Tyr)	CRCT1 (C39Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615591	NM_019060.3(CRCT1):c.121G>C (p.Gly41Arg)	CRCT1 (G41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398135	NM_019060.3(CRCT1):c.266A>G (p.Asn89Ser)	CRCT1 (N89S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313386	NM_019060.3(CRCT1):c.267C>A (p.Asn89Lys)	CRCT1 (N89K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1340102	GRCh37/hg19 1q21.3(chr1:152461314-152519237)x1	CRCT1, LCE5A	Copy number loss	not provided	GLikely benign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 565181	GRCh37/hg19 1q21.3(chr1:152408662-152537954)x1	CRCT1, LCE5A	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 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic