Related gene-specific medical variations for Gene (Select 5954) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617242	NM_002901.4(RCN1):c.11G>C (p.Gly4Ala)	LOC130005476, RCN1 (G4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511024	NM_002901.4(RCN1):c.223C>G (p.Leu75Val)	LOC130005476, RCN1 (L75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487420	NM_002901.4(RCN1):c.131A>T (p.Glu44Val)	LOC130005476, RCN1 (E44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477717	NM_002901.4(RCN1):c.148C>T (p.Pro50Ser)	LOC130005476, RCN1 (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475208	NM_002901.4(RCN1):c.40C>A (p.Leu14Met)	LOC130005476, RCN1 (L14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409134	NM_002901.4(RCN1):c.92C>A (p.Pro31His)	RCN1, LOC130005476 (P31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325928	NM_002901.4(RCN1):c.126C>G (p.Asp42Glu)	LOC130005476, RCN1 (D42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324685	NM_002901.4(RCN1):c.68C>A (p.Ala23Glu)	LOC130005476, RCN1 (A23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284352	NM_002901.4(RCN1):c.65T>C (p.Leu22Pro)	LOC130005476, RCN1 (L22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808869	GRCh37/hg19 11p13(chr11:32044970-32153712)x1	RCN1	Copy number loss	not provided	GUncertain significance