"Ambry Genetics"[submitter] AND "AQP2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2201884	NM_000486.6(AQP2):c.14G>A (p.Arg5His)	AQP2 (R5H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3128127	NM_000486.6(AQP2):c.119C>G (p.Ser40Cys)	AQP2 (S40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128128	NM_000486.6(AQP2):c.131T>C (p.Ile44Thr)	AQP2 (I44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128129	NM_000486.6(AQP2):c.292G>T (p.Val98Leu)	AQP2 (V98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1080592	NM_000486.6(AQP2):c.340G>A (p.Gly114Arg)	AQP2 (G114R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 882578	NM_000486.6(AQP2):c.391G>A (p.Val131Met)	AQP2, AQP5-AS1 (V131M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1130470	NM_000486.6(AQP2):c.433A>G (p.Ile145Val)	AQP2, AQP5-AS1 (I145V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2592791	NM_000486.6(AQP2):c.455G>A (p.Arg152His)	AQP2, AQP5-AS1 (R152H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309035	NM_000486.6(AQP2):c.458G>A (p.Arg153His)	AQP2, AQP5-AS1 (R153H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 883362	NM_000486.6(AQP2):c.460G>A (p.Gly154Arg)	AQP2, AQP5-AS1 (G154R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2494640	NM_000486.6(AQP2):c.499T>C (p.Ser167Pro)	AQP2, AQP5-AS1 (S167P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 309234	NM_000486.6(AQP2):c.526-5T>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GUncertain significance
Select item 3128130	NM_000486.6(AQP2):c.529C>T (p.His177Tyr)	AQP2, AQP5-AS1 (H177Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2228103	NM_000486.6(AQP2):c.614G>T (p.Trp205Leu)	AQP2, AQP5-AS1 (W205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306676	NM_000486.6(AQP2):c.745C>A (p.Arg249Ser)	AQP2, AQP5-AS1 (R249S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488894	NM_000486.6(AQP2):c.776T>C (p.Leu259Pro)	AQP2, AQP5-AS1 (L259P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance