"Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446221	NM_004596.5(SNRPA):c.97A>G (p.Ile33Val)	SNRPA (I33V)	Single nucleotide variant (missense variant)	Spliceosomepathy	GLikely benign
Select item 446220	NM_004596.5(SNRPA):c.98T>C (p.Ile33Thr)	SNRPA (I33T)	Single nucleotide variant (missense variant)	Spliceosomepathy	GLikely pathogenic
Select item 446205	NM_004596.5(SNRPA):c.100T>A (p.Phe34Ile)	SNRPA (F34I)	Single nucleotide variant (missense variant)	Spliceosomepathy	GLikely pathogenic

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