"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC108281 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 707677	NM_003106.4(SOX2):c.33G>T (p.Pro11=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GLikely benign
Select item 94104	NM_003106.4(SOX2):c.70_89del (p.Asn24fs)	LOC108281177, SOX2 +1 more (N24fs)	Deletion (frameshift variant)	SOX2-related condition +3 more	GPathogenic
Select item 3038104	NM_003106.4(SOX2):c.210G>A (p.Glu70=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	SOX2-related condition	GLikely benign
Select item 705427	NM_003106.4(SOX2):c.231C>A (p.Ala77=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GBenign/Likely benign
Select item 2634342	NM_003106.4(SOX2):c.241C>T (p.Leu81Phe)	LOC108281177, SOX2 +1 more (L81F)	Single nucleotide variant (missense variant)	SOX2-related condition	GUncertain significance
Select item 516220	NM_003106.4(SOX2):c.243T>G (p.Leu81=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2630457	NM_003106.4(SOX2):c.278dup (p.Ala94fs)	LOC108281177, SOX2 +1 more (A94fs)	Duplication (frameshift variant)	SOX2-related condition	GLikely pathogenic

ClinVar