"PreventionGenetics, part of Exact Sciences"[submitter] AND "SOX3"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054816	NM_005634.3(SOX3):c.*5C>T	SOX3	Single nucleotide variant (3 prime UTR variant)	SOX3-related disorder	GLikely benign
Select item 3047388	NM_005634.3(SOX3):c.1188C>T (p.Asp396=)	SOX3	Single nucleotide variant (synonymous variant)	SOX3-related disorder	GLikely benign
Select item 3041100	NM_005634.3(SOX3):c.1056C>A (p.Pro352=)	SOX3	Single nucleotide variant (synonymous variant)	SOX3-related disorder	GLikely benign
Select item 3048175	NM_005634.3(SOX3):c.1029C>T (p.Ala343=)	SOX3	Single nucleotide variant (synonymous variant)	SOX3-related disorder	GLikely benign
Select item 2042516	NM_005634.3(SOX3):c.946G>A (p.Gly316Ser)	SOX3 (G316S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3059542	NM_005634.3(SOX3):c.870GCC[3] (p.Pro294del)	SOX3 (P294del)	Microsatellite (inframe deletion)	SOX3-related disorder	GLikely benign
Select item 2081743	NM_005634.3(SOX3):c.726_743del (p.Ala243_Ala248del)	SOX3	Deletion (inframe_deletion)	SOX3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	Intellectual disability, X-linked, with panhypopituitarism +28 more	GConflicting classifications of pathogenicity
Select item 3049721	NM_005634.3(SOX3):c.714_737del (p.Ala241_Ala248del)	SOX3	Deletion (inframe deletion)	SOX3-related disorder	GLikely benign
Select item 193325	NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup)	SOX3	Indel (inframe_insertion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 289513	NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)	SOX3	Deletion (inframe_deletion)	not specified +4 more	GBenign/Likely benign
Select item 3042902	NM_005634.3(SOX3):c.708CGC[3] (p.Ala248del)	SOX3 (A248del)	Microsatellite (inframe deletion)	SOX3-related disorder	GLikely benign
Select item 1595728	NM_005634.3(SOX3):c.672C>G (p.Ser224=)	SOX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 193320	NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)	LOC108281134, SOX3 (R5Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with panhypopituitarism +4 more	GBenign/Likely benign