ClinVar for MedGen (Select 288785) - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066243	NM_000054.7(AVPR2):c.342del (p.Ala114_Val115insTer)	AVPR2	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 3027426	NM_000054.7(AVPR2):c.522G>T (p.Gln174His)	AVPR2 (Q174H)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 2683940	NM_000054.7(AVPR2):c.993dup (p.Val332fs)	AVPR2 (V332fs)	Duplication (frameshift variant +2 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 2572644	NM_000054.7(AVPR2):c.468G>A (p.Trp156Ter)	AVPR2 (W156*)	Single nucleotide variant (nonsense)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
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 1203715	NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys)	AVPR2 (R202C)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +2 more	GPathogenic/Likely pathogenic
Select item 998017	NM_000054.7(AVPR2):c.809_810del (p.Val270fs)	AVPR2 (V270fs)	Microsatellite (frameshift variant +1 more)	AVPR2-related condition	GPathogenic
Select item 996110	NM_000054.7(AVPR2):c.814A>G (p.Met272Val)	AVPR2 (M272V)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 981523	NM_000054.7(AVPR2):c.1010G>A (p.Arg337Gln)	AVPR2 (R337Q)	Single nucleotide variant (missense variant +2 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GUncertain significance
Select item 975078	NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg)	AVPR2 (S171R)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GPathogenic/Likely pathogenic
Select item 975064	NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)	AVPR2 (V279del)	Microsatellite (inframe_deletion +1 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GPathogenic/Likely pathogenic
Select item 974415	NM_000054.7(AVPR2):c.770dup (p.Gly257_Glu258insTer)	AVPR2	Duplication (frameshift variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 914620	NM_000054.7(AVPR2):c.837C>G (p.Val279=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 914619	NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser)	AVPR2 (G257S)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +2 more	GBenign/Likely benign
Select item 914118	NM_000054.7(AVPR2):c.742C>T (p.Arg248Cys)	AVPR2 (R248C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914117	NM_000054.7(AVPR2):c.734G>C (p.Gly245Ala)	AVPR2 (G245A)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely benign
Select item 914116	NM_000054.7(AVPR2):c.485T>C (p.Val162Ala)	AVPR2 (V162A)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 914115	NM_000054.7(AVPR2):c.428G>A (p.Arg143His)	AVPR2 (R143H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913760	NM_000054.7(AVPR2):c.*326A>C	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 913759	NM_000054.7(AVPR2):c.*320G>A	AVPR2	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 913725	NM_000054.7(AVPR2):c.416G>A (p.Arg139His)	AVPR2 (R139H)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 913724	NM_000054.7(AVPR2):c.317G>A (p.Arg106His)	AVPR2 (R106H)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
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 913722	NM_000054.7(AVPR2):c.126G>A (p.Ala42=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 912658	NM_000054.7(AVPR2):c.*190A>C	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	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 804120	NM_000054.7(AVPR2):c.816G>A (p.Met272Ile)	AVPR2 (M272I)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 804119	NM_000054.7(AVPR2):c.784G>A (p.Val262Met)	AVPR2 (V262M)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 804118	NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])	AVPR2	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 769186	NM_000054.7(AVPR2):c.252C>T (p.Ala84=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 763993	NM_000054.7(AVPR2):c.546C>T (p.Asn182=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 741587	NM_000054.7(AVPR2):c.474G>A (p.Arg158=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 735248	NM_000054.7(AVPR2):c.117G>A (p.Ala39=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GBenign/Likely benign
Select item 733041	NM_000054.7(AVPR2):c.105G>A (p.Leu35=)	AVPR2	Single nucleotide variant (synonymous variant)	AVPR2-related condition +3 more	GBenign/Likely benign
Select item 731000	NM_000054.7(AVPR2):c.744_755del (p.Arg249_Arg252del)	AVPR2	Deletion (inframe_deletion +1 more)	AVPR2-related condition +2 more	GConflicting classifications of pathogenicity
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 727514	NM_000054.7(AVPR2):c.663C>T (p.Ile221=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 724219	NM_000054.7(AVPR2):c.441G>A (p.Ala147=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GBenign/Likely benign
Select item 710721	NM_000054.7(AVPR2):c.1017G>A (p.Leu339=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign
Select item 585474	NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)	AVPR2 (Y128S)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GPathogenic/Likely pathogenic
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 446891	NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg)	AVPR2 (L168R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 445707	NM_000054.7(AVPR2):c.740G>A (p.Arg247His)	AVPR2 (R247H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 441086	NM_000054.7(AVPR2):c.797T>C (p.Val266Ala)	AVPR2 (V266A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 424624	NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter)	AVPR2 (W293*)	Single nucleotide variant (nonsense +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 382301	NM_000054.7(AVPR2):c.445C>T (p.Arg149Cys)	AVPR2 (R149C)	Single nucleotide variant (missense variant)	not provided +2 more	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 368084	NM_000054.7(AVPR2):c.*282G>A	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 368083	NM_000054.7(AVPR2):c.*257G>A	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 368082	NM_000054.7(AVPR2):c.*204C>T	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GBenign
Select item 368081	NM_000054.7(AVPR2):c.*136T>G	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 368080	NM_000054.7(AVPR2):c.*129C>T	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 368079	NM_000054.7(AVPR2):c.*119G>A	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 368078	NM_000054.7(AVPR2):c.1113G>A (p.Ser371=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 368077	NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp)	AVPR2 (G352D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 368076	NM_000054.7(AVPR2):c.754C>T (p.Arg252Trp)	AVPR2 (R252W)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +1 more	GBenign/Likely benign
Select item 368075	NM_000054.7(AVPR2):c.643G>A (p.Val215Met)	AVPR2 (V215M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 368073	NM_000054.7(AVPR2):c.174G>A (p.Val58=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 368071	NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser)	AVPR2 (T7S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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 279590	NM_000054.7(AVPR2):c.886T>C (p.Trp296Arg)	AVPR2 (W296R)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 267269	NM_000054.7(AVPR2):c.966del (p.Trp323fs)	AVPR2 (W323fs)	Deletion (frameshift variant +2 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 254776	NM_000054.7(AVPR2):c.993C>T (p.Ser331=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 254775	NM_000054.7(AVPR2):c.927A>G (p.Leu309=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign
Select item 254774	NM_000054.7(AVPR2):c.440C>T (p.Ala147Val)	AVPR2 (A147V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 254773	NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu)	AVPR2 (G12E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 254772	NM_000054.7(AVPR2):c.26-6T>G	AVPR2	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, X-linked +3 more	GBenign/Likely benign
Select item 254771	NM_000054.7(AVPR2):c.12G>A (p.Ala4=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +3 more	GBenign/Likely benign
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 35744	NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)	AVPR2 (R251fs)	Deletion (frameshift variant +1 more)	Nephrogenic syndrome of inappropriate antidiuresis +2 more	GLikely pathogenic
Select item 10853	NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)	AVPR2 (R104C)	Single nucleotide variant (missense variant)	Nephrogenic syndrome of inappropriate antidiuresis +2 more	GLikely pathogenic
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 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 10850	NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)	AVPR2 (R181C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 10849	NM_000054.7(AVPR2):c.410G>A (p.Arg137His)	AVPR2 (R137H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10848	NM_000054.7(AVPR2):c.102del (p.Leu35fs)	AVPR2 (L35fs)	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 10847	NM_000054.7(AVPR2):c.738dup (p.Arg247fs)	AVPR2 (R247fs)	Duplication (frameshift variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 10846	NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp)	AVPR2 (G201D)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 10845	NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)	AVPR2 (D85N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10844	NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter)	AVPR2 (R337*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 10843	NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys)	AVPR2 (Y280C)	Single nucleotide variant (missense variant +1 more)	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 10841	NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs)	AVPR2 (I228fs)	Insertion (frameshift variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 10840	NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)	AVPR2 (R113W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10839	NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys)	AVPR2 (R203C)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 10838	NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)	AVPR2 (Y205C)	Single nucleotide variant (missense variant +1 more)	Nephrogenic diabetes insipidus	GPathogenic
Select item 10837	NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys)	AVPR2 (G185C)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	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 10835	NM_000054.7(AVPR2):c.738del (p.Arg247fs)	AVPR2 (R247fs)	Deletion (frameshift variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic

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Items: 93