Related gene-specific medical variations for Gene (Select 84290) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137213	NM_032330.3(CAPNS2):c.547T>G (p.Phe183Val)	CAPNS2, LPCAT2 (F183V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137212	NM_032330.3(CAPNS2):c.53C>T (p.Ala18Val)	CAPNS2, LPCAT2 (A18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137211	NM_032330.3(CAPNS2):c.28G>A (p.Gly10Arg)	CAPNS2, LPCAT2 (G10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137210	NM_032330.3(CAPNS2):c.229G>C (p.Glu77Gln)	CAPNS2, LPCAT2 (E77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137209	NM_032330.3(CAPNS2):c.178C>T (p.Pro60Ser)	CAPNS2, LPCAT2 (P60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595656	NM_032330.3(CAPNS2):c.170C>T (p.Thr57Ile)	CAPNS2, LPCAT2 (T57I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595044	NM_032330.3(CAPNS2):c.4T>A (p.Phe2Ile)	LPCAT2, CAPNS2 (F2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526248	NM_032330.3(CAPNS2):c.397A>G (p.Ser133Gly)	CAPNS2, LPCAT2 (S133G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490538	NM_032330.3(CAPNS2):c.170C>G (p.Thr57Ser)	CAPNS2, LPCAT2 (T57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292500	NM_032330.3(CAPNS2):c.692A>T (p.Asp231Val)	CAPNS2, LPCAT2 (D231V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265395	NM_032330.3(CAPNS2):c.41G>A (p.Gly14Asp)	CAPNS2, LPCAT2 (G14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218381	NM_032330.3(CAPNS2):c.453C>G (p.Ile151Met)	CAPNS2, LPCAT2 (I151M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213435	NM_032330.3(CAPNS2):c.374G>A (p.Arg125Gln)	CAPNS2, LPCAT2 (R125Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance