"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981474	NM_004463.3(FGD1):c.1422del (p.Phe474fs)	FGD1 (F474fs)	Deletion (frameshift variant)	Aarskog syndrome	GPathogenic
Select item 488057	NM_004463.3(FGD1):c.892dup (p.Cys298fs)	FGD1 (C298fs)	Duplication (frameshift variant)	Aarskog syndrome	GLikely pathogenic
Select item 196389	NM_004463.3(FGD1):c.527dup (p.Leu177fs)	FGD1 (L177fs)	Duplication (frameshift variant)	Aarskog syndrome +2 more	GPathogenic/Likely pathogenic
Select item 981475	NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer)	FGD1	Deletion (nonsense)	Aarskog syndrome	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic

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