ClinVar for Gene (Select 54544) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269442	NM_019060.3(CRCT1):c.293G>A (p.Gly98Asp)	CRCT1 (G98D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269441	NM_019060.3(CRCT1):c.26C>G (p.Ser9Cys)	CRCT1 (S9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077300	NM_019060.3(CRCT1):c.164C>T (p.Ser55Phe)	CRCT1 (S55F)	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 2615591	NM_019060.3(CRCT1):c.121G>C (p.Gly41Arg)	CRCT1 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598419	NM_019060.3(CRCT1):c.80C>G (p.Pro27Arg)	CRCT1 (P27R)	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 2398135	NM_019060.3(CRCT1):c.266A>G (p.Asn89Ser)	CRCT1 (N89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313386	NM_019060.3(CRCT1):c.267C>A (p.Asn89Lys)	CRCT1 (N89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204475	NM_019060.3(CRCT1):c.116G>A (p.Cys39Tyr)	CRCT1 (C39Y)	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 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	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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)	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 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
Select item 149775	GRCh38/hg38 1q21.3(chr1:152365299-152618044)x3	CCDST, CRCT1 +8 more	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 21