ClinVar for MedGen (Select 1626376) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446111	NM_002282.3(KRT83):c.811del (p.Ser271fs)	KRT83 (S271fs)	Deletion (frameshift variant)	Erythrokeratodermia variabilis et progressiva 5	GLikely pathogenic
Select item 309520	NM_002282.3(KRT83):c.760A>G (p.Ile254Val)	KRT83 (I254V)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 5 +2 more	GBenign/Likely benign