"PreventionGenetics, part of Exact Sciences"[submitter] AND "SORT1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051097	NM_002959.7(SORT1):c.2289C>T (p.Ile763=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GLikely benign
Select item 3053467	NM_002959.7(SORT1):c.2241G>A (p.Pro747=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GLikely benign
Select item 3049772	NM_002959.7(SORT1):c.1682C>T (p.Thr561Met)	SORT1 (T424M +1 more)	Single nucleotide variant (missense variant)	SORT1-related disorder	GBenign
Select item 3045046	NM_002959.7(SORT1):c.1620C>T (p.Ser540=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GBenign
Select item 3047969	NM_002959.7(SORT1):c.1227C>T (p.Ser409=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GLikely benign
Select item 3059338	NM_002959.7(SORT1):c.969A>C (p.Thr323=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GBenign
Select item 3059274	NM_002959.7(SORT1):c.594T>C (p.Phe198=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GBenign
Select item 3040263	NM_002959.7(SORT1):c.544-5A>G	SORT1	Single nucleotide variant (intron variant)	SORT1-related disorder	GLikely benign
Select item 3056058	NM_002959.7(SORT1):c.12C>G (p.Pro4=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GBenign

ClinVar