ClinVar for MedGen (Select 83354) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803825	NM_000229.2(LCAT):c.832C>T (p.Pro278Ser)	LCAT (P278S)	Single nucleotide variant (missense variant)	Fish-eye disease +1 more	GUncertain significance
Select item 1784152	NM_000229.2(LCAT):c.1073C>T (p.Thr358Met)	LCAT (T358M)	Single nucleotide variant (missense variant)	Norum disease +2 more	GUncertain significance
Select item 1456665	NM_000229.2(LCAT):c.110C>T (p.Thr37Met)	LCAT, SLC12A4 (T37M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1447512	NM_000229.2(LCAT):c.1192G>A (p.Gly398Arg)	LCAT (G398R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1390755	NM_000229.2(LCAT):c.1021G>A (p.Val341Met)	LCAT (V341M)	Single nucleotide variant (missense variant)	Fish-eye disease +2 more	GUncertain significance
Select item 1348002	NM_000229.2(LCAT):c.35C>T (p.Thr12Met)	LCAT, SLC12A4 (T12M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 885597	NM_000229.2(LCAT):c.340G>A (p.Val114Met)	LCAT (V114M)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 885596	NM_000229.2(LCAT):c.382G>A (p.Gly128Ser)	LCAT (G128S)	Single nucleotide variant (missense variant)	LCAT deficiency +3 more	GUncertain significance
Select item 885592	NM_000229.2(LCAT):c.481G>A (p.Glu161Lys)	LCAT (E161K)	Single nucleotide variant (missense variant)	LCAT deficiency +2 more	GUncertain significance
Select item 884653	NM_000229.2(LCAT):c.694T>A (p.Ser232Thr)	LCAT (S232T)	Single nucleotide variant (missense variant)	LCAT-related condition +5 more	GBenign/Likely benign
Select item 632262	NM_000229.2(LCAT):c.367C>T (p.Arg123Cys)	LCAT (R123C)	Single nucleotide variant (missense variant)	Norum disease +2 more	GLikely pathogenic
Select item 320196	NM_000229.2(LCAT):c.1177C>T (p.Leu393=)	LCAT	Single nucleotide variant (synonymous variant)	Norum disease +4 more	GBenign
Select item 3674	NM_000229.2(LCAT):c.524-22T>C	LCAT	Single nucleotide variant (intron variant)	Fish-eye disease	GPathogenic
Select item 3673	NM_000229.2(LCAT):c.463A>G (p.Asn155Asp)	LCAT (N155D)	Single nucleotide variant (missense variant)	Fish-eye disease	GPathogenic
Select item 3672	NM_000229.2(LCAT):c.969CCT[1] (p.Leu325del)	LCAT (L325del)	Microsatellite (inframe_deletion)	Fish-eye disease	GPathogenic
Select item 3671	NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter)	LCAT (Y107*)	Single nucleotide variant (nonsense)	Norum disease +1 more	GPathogenic
Select item 3664	NM_000229.2(LCAT):c.1112C>T (p.Thr371Met)	LCAT (T371M)	Single nucleotide variant (missense variant)	Fish-eye disease	GPathogenic
Select item 3662	NM_000229.2(LCAT):c.101C>T (p.Pro34Leu)	LCAT, SLC12A4 (P34L)	Single nucleotide variant (missense variant +1 more)	Norum disease +1 more	GPathogenic
Select item 3660	NM_000229.2(LCAT):c.440C>T (p.Thr147Ile)	LCAT (T147I)	Single nucleotide variant (missense variant)	Norum disease +2 more	GPathogenic