Related gene-specific medical variations for Gene (Select 126861900) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269230	NM_006032.4(CPNE6):c.877C>T (p.His293Tyr)	CPNE6, LOC126861900 (H293Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269228	NM_006032.4(CPNE6):c.1222G>A (p.Gly408Ser)	CPNE6, LOC126861900 (G463S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076787	NM_006032.4(CPNE6):c.995G>A (p.Arg332Gln)	CPNE6, LOC126861900 (R332Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076786	NM_006032.4(CPNE6):c.994C>G (p.Arg332Gly)	CPNE6, LOC126861900 (R387G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076780	NM_006032.4(CPNE6):c.1156G>C (p.Glu386Gln)	CPNE6, LOC126861900 (E441Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076779	NM_006032.4(CPNE6):c.1067G>A (p.Arg356Gln)	CPNE6, LOC126861900 (R411Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606740	NM_006032.4(CPNE6):c.1143C>G (p.Asp381Glu)	CPNE6, LOC126861900 (D381E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493000	NM_006032.4(CPNE6):c.1439G>A (p.Arg480Gln)	CPNE6, LOC126861900 (R535Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488730	NM_006032.4(CPNE6):c.1273C>G (p.Arg425Gly)	CPNE6, LOC126861900 (R425G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481175	NM_006032.4(CPNE6):c.1288G>A (p.Gly430Ser)	CPNE6, LOC126861900 (G485S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343444	NM_006032.4(CPNE6):c.1111G>A (p.Glu371Lys)	CPNE6, LOC126861900 (E426K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293553	NM_006032.4(CPNE6):c.995G>C (p.Arg332Pro)	CPNE6, LOC126861900 (R387P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269637	NM_006032.4(CPNE6):c.950A>G (p.Asn317Ser)	CPNE6, LOC126861900 (N317S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249334	NM_006032.4(CPNE6):c.1519T>G (p.Phe507Val)	CPNE6, LOC126861900 (F507V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 585064	NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile)	CPNE6, LOC126861900 (T294I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided