"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AQP2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309231	NM_000486.6(AQP2):c.-60C>T	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 446862	NM_000486.6(AQP2):c.97_119del (p.Asn33fs)	AQP2 (N33fs)	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GPathogenic/Likely pathogenic
Select item 1454564	NM_000486.6(AQP2):c.127C>T (p.Gln43Ter)	AQP2 (Q43*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17830	NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)	AQP2 (G64R)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GPathogenic/Likely pathogenic
Select item 755364	NM_000486.6(AQP2):c.258C>T (p.Ala86=)	AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GLikely benign
Select item 446861	NM_000486.6(AQP2):c.277C>T (p.Gln93Ter)	AQP2 (Q93*)	Single nucleotide variant (nonsense)	Diabetes insipidus, nephrogenic, autosomal +1 more	GPathogenic
Select item 1516570	NM_000486.6(AQP2):c.360+1G>A	AQP2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
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)	Diabetes insipidus, nephrogenic, autosomal +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