Related gene-specific medical variations for Gene (Select 726) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302310	NM_006189.1(OMP):c.116G>A (p.Arg39His)	CAPN5, OMP (R39H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302309	NM_006189.1(OMP):c.427G>A (p.Val143Ile)	CAPN5, OMP (V143I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3204316	NM_006189.1(OMP):c.85G>A (p.Val29Met)	CAPN5, OMP (V29M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3204314	NM_006189.1(OMP):c.77G>T (p.Arg26Leu)	CAPN5, OMP (R26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204313	NM_006189.1(OMP):c.472G>A (p.Val158Met)	CAPN5, OMP (V158M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204312	NM_006189.1(OMP):c.322C>T (p.Arg108Cys)	CAPN5, OMP (R108C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204311	NM_006189.1(OMP):c.258C>G (p.Asn86Lys)	CAPN5, OMP (N86K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204308	NM_006189.1(OMP):c.199C>T (p.Arg67Cys)	CAPN5, OMP (R67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204307	NM_006189.1(OMP):c.115C>T (p.Arg39Cys)	CAPN5, OMP (R39C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204306	NM_006189.1(OMP):c.103C>T (p.Arg35Cys)	CAPN5, OMP (R35C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026411	NM_006189.1(OMP):c.78G>A (p.Arg26=)	CAPN5, OMP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2551757	NM_006189.1(OMP):c.289C>T (p.Arg97Cys)	CAPN5, OMP (R97C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543884	NM_006189.1(OMP):c.194T>C (p.Phe65Ser)	CAPN5, OMP (F65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493740	NM_006189.1(OMP):c.196G>A (p.Glu66Lys)	CAPN5, OMP (E66K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2439751	NM_004055.5(CAPN5):c.1589_1592delinsGGTGAG (p.Lys530_Asp531delinsArgTer)	CAPN5	Indel (nonsense)	Proliferative vitreoretinopathy	GUncertain significance
Select item 2402872	NM_006189.1(OMP):c.271C>T (p.Leu91Phe)	CAPN5, OMP (L91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358676	NM_006189.1(OMP):c.46G>C (p.Val16Leu)	CAPN5, OMP (V16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337348	NM_006189.1(OMP):c.427G>T (p.Val143Phe)	CAPN5, OMP (V143F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305514	NM_006189.1(OMP):c.184C>T (p.Arg62Trp)	CAPN5, OMP (R62W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265753	NM_006189.1(OMP):c.488T>C (p.Leu163Pro)	CAPN5, OMP (L163P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234149	NM_006189.1(OMP):c.269A>C (p.Asp90Ala)	CAPN5, OMP (D90A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 21