ClinVar for MedGen (Select 105329) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328402	NM_001384479.1(AGT):c.1263dup (p.Glu422Ter)	AGT (E422*)	Duplication (nonsense)	Large fontanelles +1 more	GLikely pathogenic
Select item 1328401	NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs)	AGT (K54fs)	Indel (frameshift variant)	Large fontanelles +1 more	GLikely pathogenic
Select item 523513	NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)	SETBP1 (G872R)	Single nucleotide variant (missense variant)	Penile hypospadias +7 more	GLikely pathogenic

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