"PreventionGenetics, part of Exact Sciences"[submitter] AND "SOX1"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041721	NM_005986.3(SOX1):c.81G>C (p.Gly27=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related disorder	GLikely benign
Select item 3033442	NM_005986.3(SOX1):c.84G>C (p.Ala28=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related disorder	GLikely benign
Select item 3035921	NM_005986.3(SOX1):c.119_130del (p.Gly40_Gly43del)	SOX1, SOX1-OT	Deletion (inframe deletion)	SOX1-related disorder	GLikely benign
Select item 3041267	NM_005986.3(SOX1):c.718_723dup (p.His241_Asn242insProHis)	SOX1, SOX1-OT	Duplication (inframe insertion)	SOX1-related disorder	GBenign
Select item 3038021	NM_005986.3(SOX1):c.846CGC[4] (p.Ala288del)	SOX1, SOX1-OT (A288del)	Microsatellite (inframe deletion)	SOX1-related disorder	GLikely benign
Select item 3038033	NM_005986.3(SOX1):c.891GGC[7] (p.Ala306del)	SOX1, SOX1-OT (A306del)	Microsatellite (inframe deletion)	SOX1-related disorder	GLikely benign
Select item 3041816	NM_005986.3(SOX1):c.909G>C (p.Ala303=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related disorder	GLikely benign
Select item 2381354	NM_005986.3(SOX1):c.1051G>A (p.Gly351Ser)	SOX1, SOX1-OT (G351S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3043263	NM_005986.3(SOX1):c.1155G>A (p.Thr385=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related disorder	GLikely benign