"OMIM"[submitter] AND "AQP2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17838	NM_000486.6(AQP2):c.64C>G (p.Leu22Val)	AQP2 (L22V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17842	NM_000486.6(AQP2):c.170A>C (p.Gln57Pro)	AQP2 (Q57P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17830	NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)	AQP2 (G64R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17834	NM_000486.6(AQP2):c.203A>G (p.Asn68Ser)	AQP2 (N68S)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17843	NM_000486.6(AQP2):c.299G>T (p.Gly100Val)	AQP2 (G100V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17831	NM_000486.6(AQP2):c.369del (p.Asn123fs)	AQP2, AQP5-AS1 (N123fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 17837	NM_000486.6(AQP2):c.374C>T (p.Thr125Met)	AQP2, AQP5-AS1 (T125M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
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 17832	NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)	AQP2, AQP5-AS1 (A147T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 17835	NM_000486.6(AQP2):c.523G>A (p.Gly175Arg)	AQP2, AQP5-AS1 (G175R)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17839	NM_000486.6(AQP2):c.543C>G (p.Cys181Trp)	AQP2, AQP5-AS1 (C181W)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
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 17845	NM_000486.6(AQP2):c.568G>A (p.Ala190Thr)	AQP2, AQP5-AS1 (A190T)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17829	NM_000486.6(AQP2):c.646T>C (p.Ser216Pro)	AQP5-AS1, AQP2 (S216P)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17840	NM_000486.6(AQP2):c.721del (p.Glu241fs)	AQP2, AQP5-AS1 (E241fs)	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17841	NM_000486.6(AQP2):c.727del (p.Asp243fs)	AQP2, AQP5-AS1 (D243fs)	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17836	NM_000486.6(AQP2):c.772G>A (p.Glu258Lys)	AQP2, AQP5-AS1 (E258K)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17844	NM_000486.6(AQP2):c.785C>T (p.Pro262Leu)	AQP2, AQP5-AS1 (P262L)	Single nucleotide variant (missense variant)	not provided	GPathogenic