ClinVar for Gene (Select 359) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 397

<< First< Prev

Page of 4

	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 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 3353684	NM_000486.6(AQP2):c.281T>C (p.Leu94Pro)	AQP2 (L94P)	Single nucleotide variant (missense variant)	AQP2-related disorder	GUncertain significance
Select item 3339176	NM_000486.6(AQP2):c.377C>A (p.Thr126Lys)	AQP2, AQP5-AS1 (T126K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 3250453	NM_000486.6(AQP2):c.569C>T (p.Ala190Val)	AQP2, AQP5-AS1 (A190V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 3244352	NC_000012.11:g.(?_50349162)_(50349391_?)del	AQP2	Deletion	not provided	GPathogenic
Select item 3244351	NC_000012.11:g.(?_50344614)_(50349391_?)del	AQP2	Deletion	not provided	GPathogenic
Select item 3236188	NM_000486.6(AQP2):c.338G>A (p.Arg113His)	AQP2 (R113H)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	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 3128129	NM_000486.6(AQP2):c.292G>T (p.Val98Leu)	AQP2 (V98L)	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 3128127	NM_000486.6(AQP2):c.119C>G (p.Ser40Cys)	AQP2 (S40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3019818	NM_000486.6(AQP2):c.288G>T (p.Gly96=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014638	NM_000486.6(AQP2):c.360+17T>A	AQP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010479	NM_000486.6(AQP2):c.360+12C>G	AQP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006408	NM_000486.6(AQP2):c.805A>G (p.Thr269Ala)	AQP5-AS1, AQP2 (T269A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006133	NM_000486.6(AQP2):c.526-13C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002542	NM_000486.6(AQP2):c.33G>A (p.Arg11=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999485	NM_000486.6(AQP2):c.660C>T (p.Asn220=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998315	NM_000486.6(AQP2):c.513C>G (p.Gly171=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2994390	NM_000486.6(AQP2):c.747C>T (p.Arg249=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987361	NM_000486.6(AQP2):c.315T>C (p.His105=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985746	NM_000486.6(AQP2):c.481G>A (p.Ala161Thr)	AQP2, AQP5-AS1 (A161T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2983238	NM_000486.6(AQP2):c.699C>T (p.Arg233=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979800	NM_000486.6(AQP2):c.526-14T>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961678	NM_000486.6(AQP2):c.607-20C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960588	NM_000486.6(AQP2):c.655T>C (p.Tyr219His)	AQP2, AQP5-AS1 (Y219H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957766	NM_000486.6(AQP2):c.526-15C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917222	NM_000486.6(AQP2):c.361-19G>A	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2913662	NM_000486.6(AQP2):c.526-16C>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909113	NM_000486.6(AQP2):c.234C>A (p.Gly78=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908172	NM_000486.6(AQP2):c.675G>A (p.Pro225=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901271	NM_000486.6(AQP2):c.607-6C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898181	NM_000486.6(AQP2):c.360+20C>T	AQP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897506	NM_000486.6(AQP2):c.168A>G (p.Val56=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897505	NM_000486.6(AQP2):c.112C>T (p.Leu38=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892092	NM_000486.6(AQP2):c.607-19C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884853	NM_000486.6(AQP2):c.525+16G>A	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2882328	NM_000486.6(AQP2):c.606+16C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881666	NM_000486.6(AQP2):c.491T>C (p.Ile164Thr)	AQP2, AQP5-AS1 (I164T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2879506	NM_000486.6(AQP2):c.45A>G (p.Ala15=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869999	NM_000486.6(AQP2):c.309G>C (p.Leu103=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864405	NM_000486.6(AQP2):c.309G>T (p.Leu103=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853018	NM_000486.6(AQP2):c.792C>G (p.Ser264Arg)	AQP2, AQP5-AS1 (S264R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850473	NM_000486.6(AQP2):c.24C>T (p.Ala8=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846015	NM_000486.6(AQP2):c.429C>A (p.Leu143=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2843018	NM_000486.6(AQP2):c.384C>T (p.Gly128=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2842841	NM_000486.6(AQP2):c.692C>A (p.Ser231Ter)	AQP2, AQP5-AS1 (S231*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2831251	NM_000486.6(AQP2):c.681C>A (p.Ala227=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822752	NM_000486.6(AQP2):c.606+7G>A	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812910	NM_000486.6(AQP2):c.222C>T (p.Ala74=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811642	NM_000486.6(AQP2):c.771G>A (p.Val257=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811242	NM_000486.6(AQP2):c.782C>A (p.Ser261Ter)	AQP2, AQP5-AS1 (S261*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2810091	NM_000486.6(AQP2):c.361-19G>T	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2797017	NM_000486.6(AQP2):c.429C>T (p.Leu143=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2793277	NM_000486.6(AQP2):c.360+12C>T	AQP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789321	NM_000486.6(AQP2):c.607-13C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786095	NM_000486.6(AQP2):c.526-12C>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786085	NM_000486.6(AQP2):c.446C>A (p.Thr149Asn)	AQP2, AQP5-AS1 (T149N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2782132	NM_000486.6(AQP2):c.99C>T (p.Asn33=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777015	NM_000486.6(AQP2):c.361-20C>A	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2761873	NM_000486.6(AQP2):c.579C>G (p.Val193=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758711	NM_000486.6(AQP2):c.792C>T (p.Ser264=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754544	NM_000486.6(AQP2):c.525+7C>T	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2753525	NM_000486.6(AQP2):c.552T>C (p.Asn184=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746827	NM_000486.6(AQP2):c.186A>T (p.Ile62=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743434	NM_000486.6(AQP2):c.60A>C (p.Thr20=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740756	NM_000486.6(AQP2):c.361-20C>T	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2737344	NM_000486.6(AQP2):c.402G>A (p.Glu134=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2731031	NM_000486.6(AQP2):c.630G>A (p.Val210=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713628	NM_000486.6(AQP2):c.624C>A (p.Pro208=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708902	NM_000486.6(AQP2):c.690G>C (p.Leu230=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708777	NM_000486.6(AQP2):c.567G>T (p.Leu189=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707763	NM_000486.6(AQP2):c.87C>T (p.Gly29=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702567	NM_000486.6(AQP2):c.526-2A>G	AQP2, AQP5-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2700818	NM_000486.6(AQP2):c.351T>A (p.Ala117=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700622	NM_000486.6(AQP2):c.500dup (p.Val168fs)	AQP2, AQP5-AS1 (V168fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2692630	NM_000486.6(AQP2):c.111C>T (p.Ala37=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692622	NM_000486.6(AQP2):c.606+19T>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2488894	NM_000486.6(AQP2):c.776T>C (p.Leu259Pro)	AQP2, AQP5-AS1 (L259P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421455	NM_000486.6(AQP2):c.607-7C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421098	NM_000486.6(AQP2):c.778C>A (p.His260Asn)	AQP2, AQP5-AS1 (H260N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419743	NM_000486.6(AQP2):c.741G>A (p.Glu247=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418659	NM_000486.6(AQP2):c.20T>C (p.Ile7Thr)	AQP2 (I7T)	Single nucleotide variant (missense variant)	not provided	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 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 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 2174094	NM_000486.6(AQP2):c.13C>T (p.Arg5Cys)	AQP2 (R5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169812	NM_000486.6(AQP2):c.247G>A (p.Val83Ile)	AQP2 (V83I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2160877	NM_000486.6(AQP2):c.707_720dup (p.Glu241delinsCysTer)	AQP2, AQP5-AS1	Duplication (nonsense)	not provided	GPathogenic
Select item 2157970	NM_000486.6(AQP2):c.262T>G (p.Phe88Val)	AQP2 (F88V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153707	NM_000486.6(AQP2):c.468C>T (p.Asn156=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2149974	NM_000486.6(AQP2):c.304G>A (p.Ala102Thr)	AQP2 (A102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137366	NM_000486.6(AQP2):c.607-1G>A	AQP2, AQP5-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2137365	NM_000486.6(AQP2):c.606+1G>A	AQP2, AQP5-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2137363	NM_000486.6(AQP2):c.607-2A>G	AQP2, AQP5-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2124687	NM_000486.6(AQP2):c.240del (p.His80fs)	AQP2 (H80fs)	Deletion (frameshift variant)	not provided	GPathogenic

<< First< Prev

Page of 4