"GeneDx"[submitter] AND "AQP2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372833	NM_000486.6(AQP2):c.43G>A (p.Ala15Thr)	AQP2 (A15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1810462	NM_000486.6(AQP2):c.287G>A (p.Gly96Glu)	AQP2 (G96E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256241	NM_000486.6(AQP2):c.342G>A (p.Gly114=)	AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +2 more	GBenign/Likely benign
Select item 256243	NM_000486.6(AQP2):c.360+3G>A	AQP2	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +2 more	GBenign
Select item 1253896	NM_000486.6(AQP2):c.360+106G>A	AQP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296744	NM_000486.6(AQP2):c.360+126G>A	AQP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276765	NM_000486.6(AQP2):c.360+233G>A	AQP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179852	NM_000486.6(AQP2):c.360+292A>G	AQP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221038	NM_000486.6(AQP2):c.360+327G>A	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1253315	NM_000486.6(AQP2):c.361-250T>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 441134	NM_000486.6(AQP2):c.450T>A (p.Asp150Glu)	AQP2, AQP5-AS1 (D150E)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 1228152	NM_000486.6(AQP2):c.526-54T>C	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GBenign
Select item 17828	NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)	AQP2, AQP5-AS1 (R187C)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal +2 more	GPathogenic/Likely pathogenic
Select item 1272465	NM_000486.6(AQP2):c.606+181C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180564	NM_000486.6(AQP2):c.607-253T>C	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265264	NM_000486.6(AQP2):c.607-221A>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178280	NM_000486.6(AQP2):c.607-92A>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GBenign
Select item 1180565	NM_000486.6(AQP2):c.607-59C>A	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180579	NM_000486.6(AQP2):c.607-39C>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3369051	NM_000486.6(AQP2):c.608TCT[1] (p.Phe204del)	AQP2, AQP5-AS1 (F204del)	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1810642	NM_000486.6(AQP2):c.770T>C (p.Val257Ala)	AQP2, AQP5-AS1 (V257A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 22