ClinVar for MedGen (Select 395099) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431419	NM_000427.3(LORICRIN):c.736G>C (p.Gly246Arg)	LORICRIN (G246R)	Single nucleotide variant (missense variant)	Loricrin keratoderma	GUncertain significance
Select item 2035667	NM_000427.3(LORICRIN):c.272C>T (p.Ser91Phe)	LORICRIN (S91F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1805407	NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)	LORICRIN (G173fs)	Duplication (frameshift variant)	Loricrin keratoderma	GPathogenic
Select item 1324671	NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter)	LORICRIN (Y208*)	Single nucleotide variant (nonsense)	Loricrin keratoderma	GLikely pathogenic
Select item 587580	NM_000427.3(LORICRIN):c.112GGC[5] (p.Gly41dup)	LORICRIN	Microsatellite (inframe_insertion)	Loricrin keratoderma +1 more	GConflicting classifications of pathogenicity
Select item 279841	NM_000427.3(LORICRIN):c.684dup (p.Ser229fs)	LORICRIN (S229fs)	Duplication (frameshift variant)	Loricrin keratoderma +1 more	GPathogenic
Select item 14419	NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)	LORICRIN (Q222fs)	Duplication (frameshift variant)	Loricrin keratoderma	GPathogenic

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