ClinVar for MedGen (Select 1684846) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285310	NM_133267.3(GSX2):c.319G>A (p.Gly107Ser)	GSX2 (G107S)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2 +1 more	GBenign
Select item 1223318	NM_133267.3(GSX2):c.408T>C (p.His136=)	GSX2	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2 +1 more	GBenign
Select item 1182813	NM_133267.3(GSX2):c.156C>T (p.Ser52=)	GSX2	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2 +1 more	GBenign
Select item 694063	NM_133267.3(GSX2):c.752A>G (p.Gln251Arg)	GSX2 (Q251R)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2	Gno classifications from unflagged records
Select item 694062	NM_133267.3(GSX2):c.26C>A (p.Ser9Ter)	GSX2 (S9*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 2	Gno classifications from unflagged records

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