RCAN3[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2493960	NM_013441.4(RCAN3):c.262A>G (p.Arg88Gly)	RCAN3 (R88G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359229	NM_013441.4(RCAN3):c.461C>T (p.Pro154Leu)	RCAN3 (P29L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152679	NM_013441.4(RCAN3):c.566G>C (p.Gly189Ala)	RCAN3 (G179A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285767	NM_013441.4(RCAN3):c.572A>T (p.Glu191Val)	RCAN3 (S134C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612291	NM_013441.4(RCAN3):c.641C>T (p.Pro214Leu)	RCAN3 (P204L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152680	NM_013441.4(RCAN3):c.667C>T (p.Arg223Cys)	RCAN3 (R223C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685377	GRCh37/hg19 1p36.11(chr1:24680971-25029622)x1	GRHL3, NCMAP +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808979	GRCh37/hg19 1p36.11(chr1:24363507-24875537)x3	GRHL3, IFNLR1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 929347	GRCh37/hg19 1p36.11(chr1:24394811-25148686)x3	CLIC4, GRHL3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic