"LCAT-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1745003	NM_000229.2(LCAT):c.1191C>T (p.His397=)	LCAT	Single nucleotide variant (synonymous variant)	LCAT-related disorder +1 more	GLikely benign
Select item 1601778	NM_000229.2(LCAT):c.1132G>A (p.Glu378Lys)	LCAT (E378K)	Single nucleotide variant (missense variant)	LCAT-related disorder +2 more	GBenign/Likely benign
Select item 1765562	NM_000229.2(LCAT):c.903C>T (p.Asp301=)	LCAT	Single nucleotide variant (synonymous variant)	LCAT-related disorder +2 more	GLikely benign
Select item 884653	NM_000229.2(LCAT):c.694T>A (p.Ser232Thr)	LCAT (S232T)	Single nucleotide variant (missense variant)	Norum disease +5 more	GBenign/Likely benign
Select item 2957099	NM_000229.2(LCAT):c.524-14dup	LCAT	Duplication (intron variant)	LCAT-related disorder +1 more	GLikely benign
Select item 2631093	NM_000229.2(LCAT):c.160G>A (p.Gly54Ser)	LCAT (G54S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

ClinVar