"Baylor Genetics"[submitter] AND "NIPAL4"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1731	NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)	NIPAL4 (A176D +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6 +2 more	GPathogenic
Select item 1031827	NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser)	NIPAL4 (A353S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance