"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AQP5-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17833	NM_000486.6(AQP2):c.377C>T (p.Thr126Met)	AQP2, AQP5-AS1 (T126M)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal +1 more	GLikely pathogenic
Select item 35694	NM_000486.6(AQP2):c.438C>T (p.Phe146=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 504917	NM_000486.6(AQP2):c.501T>C (p.Ser167=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 1809696	NM_000486.6(AQP2):c.502G>A (p.Val168Met)	AQP2, AQP5-AS1 (V168M)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GLikely pathogenic
Select item 17828	NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)	AQP2, AQP5-AS1 (R187C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 883363	NM_000486.6(AQP2):c.606+14C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GBenign/Likely benign

ClinVar