"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299871	NM_005634.3(SOX3):c.729_731dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 95304	NM_005634.3(SOX3):c.732A>C (p.Ala244=)	SOX3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 193319	NM_005634.3(SOX3):c.603G>A (p.Lys201=)	SOX3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 167718	NM_005634.3(SOX3):c.157G>C (p.Val53Leu)	LOC108281134, SOX3 (V53L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193320	NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)	LOC108281134, SOX3 (R5Q)	Single nucleotide variant (missense variant)	Panhypopituitarism, X-linked +4 more	GBenign/Likely benign

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