"PreventionGenetics, part of Exact Sciences"[submitter] AND "SOX17"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636949	NM_022454.4(SOX17):c.51G>T (p.Gln17His)	SOX17 (Q17H)	Single nucleotide variant (missense variant)	SOX17-related disorder	GUncertain significance
Select item 717906	NM_022454.4(SOX17):c.273A>T (p.Pro91=)	SOX17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2150308	NM_022454.4(SOX17):c.417G>A (p.Pro139=)	SOX17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3029347	NM_022454.4(SOX17):c.534C>T (p.Gly178=)	SOX17	Single nucleotide variant (synonymous variant)	SOX17-related disorder	GLikely benign
Select item 1599553	NM_022454.4(SOX17):c.585G>T (p.Leu195=)	SOX17	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2065309	NM_022454.4(SOX17):c.591G>C (p.Pro197=)	SOX17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2143471	NM_022454.4(SOX17):c.633G>T (p.Ala211=)	SOX17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 18413	NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)	SOX17 (Y259N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 3043707	NM_022454.4(SOX17):c.782G>C (p.Gly261Ala)	SOX17 (G261A)	Single nucleotide variant (missense variant)	SOX17-related disorder	GUncertain significance
Select item 2061435	NM_022454.4(SOX17):c.788C>T (p.Pro263Leu)	SOX17 (P263L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1581431	NM_022454.4(SOX17):c.954GCACCA[6] (p.316QH[7])	SOX17	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 915867	NM_022454.4(SOX17):c.954GCACCA[5] (p.316QH[6])	SOX17	Microsatellite (inframe_insertion)	SOX17-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3031555	NM_022454.4(SOX17):c.981C>G (p.Pro327=)	SOX17	Single nucleotide variant (synonymous variant)	SOX17-related disorder	GLikely benign
Select item 3029106	NM_022454.4(SOX17):c.1020G>C (p.Leu340=)	SOX17	Single nucleotide variant (synonymous variant)	SOX17-related disorder	GLikely benign
Select item 2073092	NM_022454.4(SOX17):c.1166C>T (p.Pro389Leu)	SOX17 (P389L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance