ClinVar for MedGen (Select 1373459) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1341533	NM_018419.3(SOX18):c.991C>T (p.Leu331Phe)	SOX18 (L331F)	Single nucleotide variant (missense variant)	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	GLikely benign
Select item 765354	NM_018419.3(SOX18):c.1014C>G (p.Pro338=)	SOX18	Single nucleotide variant (synonymous variant)	Hypotrichosis-lymphedema-telangiectasia syndrome +2 more	GLikely benign
Select item 754921	NM_018419.3(SOX18):c.1149C>T (p.Ser383=)	SOX18	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 433539	NM_018419.3(SOX18):c.712G>T (p.Glu238Ter)	SOX18 (E238*)	Single nucleotide variant (nonsense)	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	GPathogenic
Select item 261029	NM_018419.3(SOX18):c.243C>T (p.Asp81=)	SOX18	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 8002	NM_018419.3(SOX18):c.720C>A (p.Cys240Ter)	SOX18 (C240*)	Single nucleotide variant (nonsense)	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	GPathogenic

ClinVar