Related gene-specific medical variations for Gene (Select 10162) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291166	NM_005768.6(LPCAT3):c.940G>A (p.Asp314Asn)	EMG1, LPCAT3 (D314N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119738	NM_005768.6(LPCAT3):c.326G>A (p.Arg109His)	EMG1, LPCAT3 (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119737	NM_005768.6(LPCAT3):c.1379T>C (p.Ile460Thr)	EMG1, LPCAT3 (I460T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507494	NM_005768.6(LPCAT3):c.346A>G (p.Thr116Ala)	EMG1, LPCAT3 (T116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477379	NM_005768.6(LPCAT3):c.1024A>C (p.Asn342His)	EMG1, LPCAT3 (N342H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474572	NM_005768.6(LPCAT3):c.1402A>G (p.Ile468Val)	EMG1, LPCAT3 (I468V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408435	NM_005768.6(LPCAT3):c.1033G>C (p.Val345Leu)	EMG1, LPCAT3 (V345L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376803	NM_005768.6(LPCAT3):c.320T>C (p.Met107Thr)	EMG1, LPCAT3 (M107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369546	NM_005768.6(LPCAT3):c.992C>T (p.Thr331Ile)	EMG1, LPCAT3 (T331I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346972	NM_005768.6(LPCAT3):c.340G>A (p.Val114Ile)	EMG1, LPCAT3 (V114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346971	NM_005768.6(LPCAT3):c.1217C>T (p.Thr406Ile)	EMG1, LPCAT3 (T406I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321698	NM_005768.6(LPCAT3):c.536G>C (p.Arg179Pro)	EMG1, LPCAT3 (R179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307068	NM_005768.6(LPCAT3):c.214C>T (p.Leu72Phe)	EMG1, LPCAT3 (L72F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298963	NM_005768.6(LPCAT3):c.1001T>C (p.Ile334Thr)	EMG1, LPCAT3 (I334T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293468	NM_005768.6(LPCAT3):c.1061A>G (p.Lys354Arg)	EMG1, LPCAT3 (K354R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292223	NM_005768.6(LPCAT3):c.817A>G (p.Met273Val)	EMG1, LPCAT3 (M273V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250229	NM_005768.6(LPCAT3):c.1455G>C (p.Lys485Asn)	EMG1, LPCAT3 (K485N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216979	NM_005768.6(LPCAT3):c.310C>G (p.Leu104Val)	EMG1, LPCAT3 (L104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208397	NM_005768.6(LPCAT3):c.1381T>A (p.Phe461Ile)	EMG1, LPCAT3 (F461I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777232	NM_005768.6(LPCAT3):c.411C>T (p.Tyr137=)	EMG1, LPCAT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734178	NM_005768.6(LPCAT3):c.367-6T>C	EMG1, LPCAT3	Single nucleotide variant (intron variant)	not provided	GBenign

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Links from Gene

Items: 21