C3553660[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976042	NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter)	NFIX (E16* +5 more)	Single nucleotide variant (nonsense)	Malan overgrowth syndrome	GPathogenic
Select item 982716	NM_001365902.3(NFIX):c.220del (p.Arg74fs)	NFIX (R27fs +5 more)	Deletion (frameshift variant)	Malan overgrowth syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1325811	NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr)	NFIX (D101Y +5 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome	GPathogenic/Likely pathogenic

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