"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932070	NM_001365902.3(NFIX):c.77del (p.Phe26fs)	NFIX (F25fs +4 more)	Deletion (frameshift variant +1 more)	Marshall-Smith syndrome	GPathogenic
Select item 930371	NM_001365902.3(NFIX):c.1139C>T (p.Ser380Leu)	NFIX (S339L +6 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome	GUncertain significance
Select item 931835	NM_001365902.3(NFIX):c.1449del (p.Ile483fs)	NFIX (I475fs +9 more)	Deletion (frameshift variant)	Marshall-Smith syndrome	GLikely pathogenic

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