CN322312[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 2500353	NM_001134673.4(NFIA):c.1A>C (p.Met1Leu)	NFIA (M1L +1 more)	Single nucleotide variant (missense variant +2 more)	Brain malformations with or without urinary tract defects	GUncertain significance
Select item 1325836	NM_001134673.4(NFIA):c.1086dup (p.Ala363fs)	NFIA (A355fs +2 more)	Duplication (frameshift variant)	Brain malformations with or without urinary tract defects +1 more	GLikely pathogenic