Related gene-specific medical variations for Gene (Select 4014) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3119574	NM_000427.3(LORICRIN):c.589G>A (p.Gly197Ser)	LOC129931468, LORICRIN (G197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2990137	NM_000427.3(LORICRIN):c.586T>G (p.Cys196Gly)	LOC129931468, LORICRIN (C196G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1324671	NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter)	LORICRIN (Y208*)	Single nucleotide variant (nonsense)	Loricrin keratoderma	GLikely pathogenic
Select item 1048924	NM_000427.3(LORICRIN):c.619G>A (p.Gly207Ser)	LOC129931468, LORICRIN (G207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982193	NM_000427.3(LORICRIN):c.619G>T (p.Gly207Cys)	LOC129931468, LORICRIN (G207C)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic

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