AVPR2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289944	NM_000054.7(AVPR2):c.-153_-152insC	AVPR2	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 368070	NM_000054.7(AVPR2):c.-48G>C	AVPR2	Single nucleotide variant (5 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 254771	NM_000054.7(AVPR2):c.12G>A (p.Ala4=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2890168	NM_000054.7(AVPR2):c.18C>T (p.Thr6=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 368071	NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser)	AVPR2 (T7S)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 438660	NM_000054.7(AVPR2):c.24del (p.Ala9fs)	AVPR2 (A9fs)	Deletion (frameshift variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 2798685	NM_000054.7(AVPR2):c.25+11C>T	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838832	NM_000054.7(AVPR2):c.25+18A>G	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286248	NM_000054.7(AVPR2):c.25+118A>G	AVPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2696757	NM_000054.7(AVPR2):c.26-20T>C	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972617	NM_000054.7(AVPR2):c.26-14C>T	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964993	NM_000054.7(AVPR2):c.26-13G>A	AVPR2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2698853	NM_000054.7(AVPR2):c.26-13G>C	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802324	NM_000054.7(AVPR2):c.26-8C>T	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254772	NM_000054.7(AVPR2):c.26-6T>G	AVPR2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 254773	NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu)	AVPR2 (G12E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2832733	NM_000054.7(AVPR2):c.36G>A (p.Gly12=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630891	NM_000054.7(AVPR2):c.46_61del (p.Leu16fs)	AVPR2 (L16fs)	Deletion (frameshift variant)	AVPR2-related disorder	GPathogenic
Select item 730476	NM_000054.7(AVPR2):c.69C>T (p.Ser23=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2387741	NM_000054.7(AVPR2):c.76G>C (p.Glu26Gln)	AVPR2 (E26Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 912621	NM_000054.7(AVPR2):c.81G>T (p.Arg27Ser)	AVPR2 (R27S)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 759980	NM_000054.7(AVPR2):c.84A>C (p.Pro28=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257917	NM_000054.7(AVPR2):c.88G>A (p.Asp30Asn)	AVPR2 (D30N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2856870	NM_000054.7(AVPR2):c.96G>A (p.Arg32=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2219485	NM_000054.7(AVPR2):c.101C>T (p.Pro34Leu)	AVPR2 (P34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1948697	NM_000054.7(AVPR2):c.102G>A (p.Pro34=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 10848	NM_000054.7(AVPR2):c.102del (p.Leu35fs)	AVPR2 (L35fs)	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 733041	NM_000054.7(AVPR2):c.105G>A (p.Leu35=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GBenign/Likely benign
Select item 765037	NM_000054.7(AVPR2):c.106C>T (p.Leu36=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352742	NM_000054.7(AVPR2):c.107T>C (p.Leu36Pro)	AVPR2 (L36P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351206	NM_000054.7(AVPR2):c.113G>A (p.Arg38Gln)	AVPR2 (R38Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 735248	NM_000054.7(AVPR2):c.117G>A (p.Ala39=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 368072	NM_000054.7(AVPR2):c.125C>T (p.Ala42Val)	AVPR2 (A42V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 913722	NM_000054.7(AVPR2):c.126G>A (p.Ala42=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign/Likely benign
Select item 2737425	NM_000054.7(AVPR2):c.130C>T (p.Leu44Phe)	AVPR2 (L44F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10852	NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys)	AVPR2 (I46K)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 2830223	NM_000054.7(AVPR2):c.159G>A (p.Leu53=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699737	NM_000054.7(AVPR2):c.159G>C (p.Leu53=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723975	NM_000054.7(AVPR2):c.165T>C (p.Asn55=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 368073	NM_000054.7(AVPR2):c.174G>A (p.Val58=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 35737	NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro)	AVPR2 (L59P)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 753967	NM_000054.7(AVPR2):c.180G>A (p.Ala60=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2584683	NM_000054.7(AVPR2):c.185T>C (p.Leu62Pro)	AVPR2 (L62P)	Single nucleotide variant (missense variant)	Nephrogenic syndrome of inappropriate antidiuresis	GLikely pathogenic
Select item 368074	NM_000054.7(AVPR2):c.189T>C (p.Ala63=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 804118	NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])	AVPR2	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 716656	NM_000054.7(AVPR2):c.190C>T (p.Arg64Trp)	AVPR2 (R64W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1984284	NM_000054.7(AVPR2):c.192G>A (p.Arg64=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404671	NM_000054.7(AVPR2):c.193C>T (p.Arg65Trp)	AVPR2 (R65W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2439450	NM_000054.7(AVPR2):c.202C>T (p.Arg68Trp)	AVPR2 (R68W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711109	NM_000054.7(AVPR2):c.203G>A (p.Arg68Gln)	AVPR2 (R68Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2815623	NM_000054.7(AVPR2):c.207C>A (p.Gly69=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728308	NM_000054.7(AVPR2):c.212G>A (p.Trp71Ter)	AVPR2 (W71*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 10842	NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter)	AVPR2 (W71*)	Single nucleotide variant (nonsense)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 2821292	NM_000054.7(AVPR2):c.216A>G (p.Ala72=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018579	NM_000054.7(AVPR2):c.225C>T (p.His75=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152356	NM_000054.7(AVPR2):c.238C>T (p.His80Tyr)	AVPR2 (H80Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2699752	NM_000054.7(AVPR2):c.244T>C (p.Cys82Arg)	AVPR2 (C82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821293	NM_000054.7(AVPR2):c.246C>T (p.Cys82=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769186	NM_000054.7(AVPR2):c.252C>T (p.Ala84=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GLikely benign
Select item 10845	NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)	AVPR2 (D85N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3018595	NM_000054.7(AVPR2):c.261C>T (p.Ala87=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577986	NM_000054.7(AVPR2):c.262G>A (p.Val88Met)	AVPR2 (V88M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2781776	NM_000054.7(AVPR2):c.264G>A (p.Val88=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 35738	NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro)	AVPR2 (L97P)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 2504686	NM_000054.7(AVPR2):c.296G>A (p.Trp99Ter)	AVPR2 (W99*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2805977	NM_000054.7(AVPR2):c.300G>A (p.Lys100=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973763	NM_000054.7(AVPR2):c.306C>T (p.Thr102=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 10853	NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)	AVPR2 (R104C)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 913723	NM_000054.7(AVPR2):c.311G>A (p.Arg104His)	AVPR2 (R104H)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 2868249	NM_000054.7(AVPR2):c.312C>T (p.Arg104=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 10851	NM_000054.7(AVPR2):c.313T>G (p.Phe105Val)	AVPR2 (F105V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 2149764	NM_000054.7(AVPR2):c.315C>T (p.Phe105=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1687191	NM_000054.7(AVPR2):c.316C>T (p.Arg106Cys)	AVPR2 (R106C)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 913724	NM_000054.7(AVPR2):c.317G>A (p.Arg106His)	AVPR2 (R106H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2138780	NM_000054.7(AVPR2):c.320G>A (p.Gly107Glu)	AVPR2 (G107E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737426	NM_000054.7(AVPR2):c.331_332del (p.Leu111fs)	AVPR2 (L111fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2835082	NM_000054.7(AVPR2):c.332T>C (p.Leu111Pro)	AVPR2 (L111P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374351	NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe)	AVPR2 (C112F)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 10840	NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)	AVPR2 (R113W)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GPathogenic
Select item 2036881	NM_000054.7(AVPR2):c.338G>T (p.Arg113Leu)	AVPR2 (R113L)	Single nucleotide variant (missense variant)	AVPR2-related disorder +1 more	GUncertain significance
Select item 3066243	NM_000054.7(AVPR2):c.342del (p.Ala114_Val115insTer)	AVPR2	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 2417665	NM_000054.7(AVPR2):c.342C>T (p.Ala114=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2435099	NM_000054.7(AVPR2):c.348_349delinsAGG (p.Tyr117fs)	AVPR2 (Y117fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1964963	NM_000054.7(AVPR2):c.349T>C (p.Tyr117His)	AVPR2 (Y117H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038995	NM_000054.7(AVPR2):c.356A>G (p.Gln119Arg)	AVPR2 (Q119R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451934	NM_000054.7(AVPR2):c.359_426dup (p.Arg143delinsTrpTrpAlaCysMetProProProThrTer)	AVPR2	Duplication (nonsense)	not provided	GPathogenic
Select item 429677	NM_000054.7(AVPR2):c.359T>C (p.Met120Thr)	AVPR2 (M120T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3355307	NM_000054.7(AVPR2):c.371A>C (p.Tyr124Ser)	AVPR2 (Y124S)	Single nucleotide variant (missense variant)	AVPR2-related disorder	GUncertain significance
Select item 2817686	NM_000054.7(AVPR2):c.375C>T (p.Ala125=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343585	NM_000054.7(AVPR2):c.377C>T (p.Ser126Phe)	AVPR2 (S126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2846508	NM_000054.7(AVPR2):c.378C>T (p.Ser126=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521815	NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)	AVPR2 (Y128del)	Deletion (inframe_deletion)	Diabetes insipidus, nephrogenic, X-linked +1 more	GPathogenic/Likely pathogenic
Select item 585474	NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)	AVPR2 (Y128S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204318	NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe)	AVPR2 (I130F)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 235612	NM_000054.7(AVPR2):c.392T>C (p.Leu131Pro)	AVPR2 (L131P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10836	NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp)	AVPR2 (A132D)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 2996060	NM_000054.7(AVPR2):c.397A>C (p.Met133Leu)	AVPR2 (M133L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802195	NM_000054.7(AVPR2):c.402G>A (p.Thr134=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446890	NM_000054.7(AVPR2):c.404T>C (p.Leu135Pro)	AVPR2 (L135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 35739	NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)	AVPR2 (R137G)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic

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