ClinVar for OMIM (Select 600231) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172766	NM_001651.4(AQP5):c.526G>A (p.Gly176Arg)	AQP5 (G176R)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GLikely pathogenic
Select item 65482	NM_001651.4(AQP5):c.367A>G (p.Asn123Asp)	AQP5 (N123D)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GPathogenic
Select item 65481	NM_001651.4(AQP5):c.529A>T (p.Ile177Phe)	AQP5 (I177F)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GPathogenic
Select item 65480	NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)	AQP5, AQP5-AS1 (I45S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GPathogenic
Select item 65479	NM_001651.4(AQP5):c.562C>T (p.Arg188Cys)	AQP5 (R188C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65478	NM_001651.4(AQP5):c.113C>A (p.Ala38Glu)	AQP5-AS1, AQP5 (A38E)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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