ClinVar for MedGen (Select 289643) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1693171	NM_000486.6(AQP2):c.*20C>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 1679284	NM_000486.6(AQP2):c.518T>G (p.Leu173Arg)	AQP5-AS1, AQP2 (L173R)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 1526141	NM_000486.6(AQP2):c.127_128del (p.Gln43fs)	AQP2 (Q43fs)	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 1526044	NM_000486.6(AQP2):c.360+5G>T	AQP2	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
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 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 1228152	NM_000486.6(AQP2):c.526-54T>C	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1210350	NM_000486.6(AQP2):c.155T>C (p.Ile52Thr)	AQP2 (I52T)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
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 1180565	NM_000486.6(AQP2):c.607-59C>A	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided +1 more	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 1178280	NM_000486.6(AQP2):c.607-92A>G	AQP5-AS1, AQP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1028289	NM_000486.6(AQP2):c.782C>T (p.Ser261Leu)	AQP2, AQP5-AS1 (S261L)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 998050	NM_000486.6(AQP2):c.3G>T (p.Met1Ile)	AQP2 (M1I)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 974414	NM_000486.6(AQP2):c.797_*17del (p.Pro266fs)	AQP2, AQP5-AS1 (P266fs)	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 883501	NM_000486.6(AQP2):c.*3104G>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 883500	NM_000486.6(AQP2):c.*2961C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 883451	NM_000486.6(AQP2):c.*2488T>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 883450	NM_000486.6(AQP2):c.*2359T>C	AQP5-AS1, AQP2	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 883449	NM_000486.6(AQP2):c.*2099T>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 883406	NM_000486.6(AQP2):c.*1065G>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 883405	NM_000486.6(AQP2):c.*1001G>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
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
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 883361	NM_000486.6(AQP2):c.456C>A (p.Arg152=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 882634	NM_000486.6(AQP2):c.*873C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 882633	NM_000486.6(AQP2):c.*602A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 882632	NM_000486.6(AQP2):c.*530C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 882631	NM_000486.6(AQP2):c.*425T>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GLikely benign
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 882361	NM_000486.6(AQP2):c.*375G>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 882360	NM_000486.6(AQP2):c.*321G>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 882359	NM_000486.6(AQP2):c.*250A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 882358	NM_000486.6(AQP2):c.*121C>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 882312	NM_000486.6(AQP2):c.32G>A (p.Arg11Lys)	AQP2 (R11K)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 882311	NM_000486.6(AQP2):c.-16C>T	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 882310	NM_000486.6(AQP2):c.-59G>A	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 881566	NM_000486.6(AQP2):c.*2937T>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881565	NM_000486.6(AQP2):c.*2869G>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881564	NM_000486.6(AQP2):c.*2838C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881563	NM_000486.6(AQP2):c.*2836C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881562	NM_000486.6(AQP2):c.*2715C>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881513	NM_000486.6(AQP2):c.*2072T>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881512	NM_000486.6(AQP2):c.*1889C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881511	NM_000486.6(AQP2):c.*1873G>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GLikely benign
Select item 881510	NM_000486.6(AQP2):c.*1793C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881509	NM_000486.6(AQP2):c.*1646C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881135	NM_000486.6(AQP2):c.*3247A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881134	NM_000486.6(AQP2):c.*3203G>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881133	NM_000486.6(AQP2):c.*3172G>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881052	NM_000486.6(AQP2):c.*1315G>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881051	NM_000486.6(AQP2):c.*1270C>T	AQP5-AS1, AQP2	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 881002	NM_000486.6(AQP2):c.*108A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GLikely benign
Select item 881001	NM_000486.6(AQP2):c.735T>C (p.Asp245=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881000	NM_000486.6(AQP2):c.626T>C (p.Leu209Pro)	AQP2, AQP5-AS1 (L209P)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 880952	NM_000486.6(AQP2):c.-65G>A	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 880951	NM_000486.6(AQP2):c.-75G>A	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 880950	NM_000486.6(AQP2):c.-93G>A	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 828116	NM_000486.6(AQP2):c.526-1G>T	AQP2, AQP5-AS1	Single nucleotide variant (splice acceptor variant)	Diabetes insipidus, nephrogenic, autosomal	GLikely pathogenic
Select item 766357	NM_000486.6(AQP2):c.246C>T (p.Ser82=)	AQP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 763310	NM_000486.6(AQP2):c.189C>T (p.Ser63=)	AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
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 737819	NM_000486.6(AQP2):c.471G>A (p.Pro157=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 733227	NM_000486.6(AQP2):c.141G>A (p.Ala47=)	AQP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 718766	NM_000486.6(AQP2):c.579C>T (p.Val193=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 713761	NM_000486.6(AQP2):c.204C>T (p.Asn68=)	AQP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 631682	NM_000486.6(AQP2):c.140C>T (p.Ala47Val)	AQP2 (A47V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 446861	NM_000486.6(AQP2):c.277C>T (p.Gln93Ter)	AQP2 (Q93*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 446860	NM_000486.6(AQP2):c.211G>A (p.Val71Met)	AQP2 (V71M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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	GLikely pathogenic
Select item 430573	NM_000486.6(AQP2):c.563C>T (p.Ser188Phe)	AQP2, AQP5-AS1 (S188F)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GLikely pathogenic
Select item 309275	NM_000486.6(AQP2):c.*3190G>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309274	NM_000486.6(AQP2):c.*3168T>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309273	NM_000486.6(AQP2):c.*3161A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309272	NM_000486.6(AQP2):c.*3153T>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309271	NM_000486.6(AQP2):c.*3081C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309270	NM_000486.6(AQP2):c.*3002G>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309269	NM_000486.6(AQP2):c.*2938C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309268	NM_000486.6(AQP2):c.*2804C>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309267	NM_000486.6(AQP2):c.*2795T>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309266	NM_000486.6(AQP2):c.*2725A>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309265	NM_000486.6(AQP2):c.*2616G>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309264	NM_000486.6(AQP2):c.*2495A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309262	NM_000486.6(AQP2):c.*2250C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309261	NM_000486.6(AQP2):c.*2101C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309260	NM_000486.6(AQP2):c.*2048G>A	AQP5-AS1, AQP2	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GLikely benign
Select item 309259	NM_000486.6(AQP2):c.*1757A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309257	NM_000486.6(AQP2):c.*1684T>C	AQP5-AS1, AQP2	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309256	NM_000486.6(AQP2):c.*1599A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309255	NM_000486.6(AQP2):c.*1562T>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309254	NM_000486.6(AQP2):c.*1395C>T	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309253	NM_000486.6(AQP2):c.*1243C>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309252	NM_000486.6(AQP2):c.*1228T>G	AQP5-AS1, AQP2	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309251	NM_000486.6(AQP2):c.*1218T>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 309250	NM_000486.6(AQP2):c.*1207T>C	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309249	NM_000486.6(AQP2):c.*1081C>A	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309248	NM_000486.6(AQP2):c.*976A>G	AQP2, AQP5-AS1	Single nucleotide variant (3 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance

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