ClinVar for MedGen (Select 765943) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1270910	NM_001102469.2(LIPN):c.731C>A (p.Thr244Asn)	LIPN (T244N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 8 +1 more	GBenign
Select item 1238700	NM_001102469.2(LIPN):c.297T>C (p.Ala99=)	LIPN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 31088	NM_001102469.2(LIPN):c.399_400del (p.Glu133fs)	LIPN (E133fs)	Microsatellite (frameshift variant)	Lamellar ichthyosis	GPathogenic

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