C4478940[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805358	NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)	NFIA (S107R +2 more)	Single nucleotide variant (missense variant)	Chromosome 1p32-p31 deletion syndrome	GUncertain significance
Select item 1699181	NM_001134673.4(NFIA):c.248del (p.Ile83fs)	NFIA (I128fs +2 more)	Deletion (frameshift variant)	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 1805364	NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)	NFIA (K143R +2 more)	Single nucleotide variant (missense variant)	Chromosome 1p32-p31 deletion syndrome	GUncertain significance
Select item 1804914	NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)	NFIA (V104F +2 more)	Single nucleotide variant (missense variant)	Chromosome 1p32-p31 deletion syndrome	GUncertain significance
Select item 1805329	NM_001134673.4(NFIA):c.504A>G (p.Ile168Met)	NFIA (I160M +2 more)	Single nucleotide variant (missense variant)	Chromosome 1p32-p31 deletion syndrome	GUncertain significance
Select item 1806128	NM_001134673.4(NFIA):c.647G>C (p.Ser216Thr)	NFIA (S208T +2 more)	Single nucleotide variant (missense variant)	Chromosome 1p32-p31 deletion syndrome	GLikely benign

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