ClinVar for MedGen (Select 462277) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683958	NM_022454.4(SOX17):c.245A>G (p.Glu82Gly)	SOX17 (E82G)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 3	GLikely pathogenic
Select item 1637023	NM_022454.4(SOX17):c.654G>A (p.Pro218=)	SOX17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1633804	NM_022454.4(SOX17):c.1206C>G (p.Ala402=)	SOX17	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 3 +1 more	GBenign
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 1595125	NM_022454.4(SOX17):c.948A>G (p.Gln316=)	SOX17	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 3 +1 more	GBenign/Likely benign
Select item 1342514	NM_022454.4(SOX17):c.366G>C (p.Glu122Asp)	SOX17 (E122D)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 3	GUncertain significance
Select item 762739	NM_022454.4(SOX17):c.549C>T (p.Phe183=)	SOX17	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 3 +1 more	GLikely benign
Select item 18415	SOX17, 6-BP INS, NT51	SOX17	Insertion	Vesicoureteral reflux 3	GPathogenic
Select item 18414	NM_022454.4(SOX17):c.532G>T (p.Gly178Cys)	SOX17 (G178C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18413	NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)	SOX17 (Y259N)	Single nucleotide variant (missense variant)	SOX17-related condition +3 more	GBenign/Likely benign