ClinVar for MedGen (Select 442699) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25774541.	NM_000297.4(PKD2):c.2814del (p.Gln938fs) GRCh37: Chr4:88996752 GRCh38: Chr4:88075600	PKD2	Q938fs	Polycystic kidney disease 2	Pathogenic (Jul 15, 2022)	no assertion criteria provided
Select item 25774142.	NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter) GRCh37: Chr4:88983088-88983089 GRCh38: Chr4:88061936-88061937	PKD2	Y684*	Polycystic kidney disease 2	Pathogenic (Jul 27, 2022)	no assertion criteria provided
Select item 25758933.	NM_000297.4(PKD2):c.1129A>C (p.Ser377Arg) GRCh37: Chr4:88964419 GRCh38: Chr4:88043267	PKD2	S377R	Polycystic kidney disease 2	Uncertain significance (Aug 10, 2023)	criteria provided, single submitter
Select item 25064924.	NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal) GRCh37: Chr4:88964520-88964521 GRCh38: Chr4:88043368-88043369	PKD2		Polycystic kidney disease 2	Likely pathogenic (Dec 2, 2022)	criteria provided, single submitter
Select item 25061745.	NM_000297.4(PKD2):c.596-12_599del GRCh37: Chr4:88940597-88940612 GRCh38: Chr4:88019445-88019460	PKD2		Polycystic kidney disease 2	Pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 24458316.	NM_000297.4(PKD2):c.1095-1G>T GRCh37: Chr4:88964384 GRCh38: Chr4:88043232	PKD2		Polycystic kidney disease 2	Likely pathogenic (Feb 14, 2023)	criteria provided, single submitter
Select item 24440487.	NM_000297.4(PKD2):c.1026del (p.Glu343fs) GRCh37: Chr4:88959583 GRCh38: Chr4:88038431	PKD2	E343fs	Polycystic kidney disease 2	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24348778.	NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly) GRCh37: Chr4:88989135 GRCh38: Chr4:88067983	PKD2	D815G	Polycystic kidney disease 2	Uncertain significance (May 15, 2019)	criteria provided, single submitter
Select item 24348769.	NM_000297.4(PKD2):c.1181_1183del (p.Asp394_Leu395delinsVal) GRCh37: Chr4:88964471-88964473 GRCh38: Chr4:88043319-88043321	PKD2		Polycystic kidney disease 2	Uncertain significance (Apr 6, 2021)	criteria provided, single submitter
Select item 243160110.	NM_000297.4(PKD2):c.2178dup (p.Glu727fs) GRCh37: Chr4:88986584-88986585 GRCh38: Chr4:88065432-88065433	PKD2	E727fs	Polycystic kidney disease 2	Likely pathogenic (Aug 26, 2022)	criteria provided, single submitter
Select item 208612611.	NM_000297.4(PKD2):c.386C>G (p.Ser129Trp) GRCh37: Chr4:88929271 GRCh38: Chr4:88008119	PKD2	S129W	Autosomal dominant polycystic kidney disease, Inborn genetic diseases, Polycystic kidney disease 2, not provided	Uncertain significance (Mar 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 187824012.	NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del GRCh37: Chr4:88940724-88959402	PKD2		Polycystic kidney disease 2	Likely pathogenic (Dec 8, 2022)	criteria provided, single submitter
Select item 180627513.	NM_000297.4(PKD2):c.2522+1G>T GRCh37: Chr4:88989214 GRCh38: Chr4:88068062	PKD2		Polycystic kidney disease 2	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 180549314.	NM_000297.4(PKD2):c.908C>G (p.Ala303Gly) GRCh37: Chr4:88959467 GRCh38: Chr4:88038315	PKD2	A303G	Inborn genetic diseases, Polycystic kidney disease 2	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180517315.	NM_000297.4(PKD2):c.1790T>G (p.Leu597Arg) GRCh37: Chr4:88977311 GRCh38: Chr4:88056159	PKD2	L597R	Polycystic kidney disease 2	Uncertain significance (Jun 11, 2020)	criteria provided, single submitter
Select item 180499416.	NM_000297.4(PKD2):c.2475_2477del (p.Arg827del) GRCh37: Chr4:88989164-88989166 GRCh38: Chr4:88068012-88068014	PKD2	R827del	Polycystic kidney disease 2	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 171037417.	NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs) GRCh37: Chr4:88983084-88983087 GRCh38: Chr4:88061932-88061935	PKD2	Y684fs	not provided, Polycystic kidney disease 2	Pathogenic (Mar 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 170570718.	NM_000297.4(PKD2):c.690del (p.Leu231fs) GRCh37: Chr4:88940700 GRCh38: Chr4:88019548	PKD2	L231fs	Polycystic kidney disease 2	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170560619.	NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter) GRCh37: Chr4:88983140 GRCh38: Chr4:88061988	PKD2	S701*	Polycystic kidney disease 2	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 169992020.	NM_000297.4(PKD2):c.2052C>A (p.Tyr684Ter) GRCh37: Chr4:88983090 GRCh38: Chr4:88061938	PKD2	Y684*	Polycystic kidney disease 2	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 169991921.	NM_000297.4(PKD2):c.1094+1del GRCh37: Chr4:88959654 GRCh38: Chr4:88038502	PKD2		Polycystic kidney disease 2	Likely pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 169991822.	NM_000297.4(PKD2):c.753del (p.Arg251_Met252insTer) GRCh37: Chr4:88957414 GRCh38: Chr4:88036262	PKD2		Polycystic kidney disease 2	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 169991523.	NC_000004.12:g.(?_88928831)_(88996847_?)del GRCh38: Chr4:88928831-88996847	FAM13A, PKD2		Polycystic kidney disease 2	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 169991024.	NM_000297.4(PKD2):c.2517del (p.Gln840fs) GRCh37: Chr4:88989206 GRCh38: Chr4:88068054	PKD2	Q840fs	Polycystic kidney disease 2	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 169925825.	NM_000297.4(PKD2):c.1197del (p.Glu400fs) GRCh37: Chr4:88964487 GRCh38: Chr4:88043335	PKD2	E400fs	Polycystic kidney disease 2	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 158208926.	NM_000297.4(PKD2):c.1092C>T (p.Thr364=) GRCh37: Chr4:88959651 GRCh38: Chr4:88038499	PKD2		Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156842427.	NM_000297.4(PKD2):c.1617G>A (p.Leu539=) GRCh37: Chr4:88973211 GRCh38: Chr4:88052059	PKD2		Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Likely benign (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 154004228.	NM_000297.4(PKD2):c.2118+19C>T GRCh37: Chr4:88983175 GRCh38: Chr4:88062023	PKD2		Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152584629.	NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys) GRCh37: Chr4:88996667 GRCh38: Chr4:88075515	PKD2	R910C	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151292530.	NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe) GRCh37: Chr4:88996712 GRCh38: Chr4:88075560	PKD2	I925F	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151113631.	NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn) GRCh37: Chr4:88996694 GRCh38: Chr4:88075542	PKD2	D919N	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150656132.	NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys) GRCh37: Chr4:88986987 GRCh38: Chr4:88065835	PKD2	E772K	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149420933.	NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp) GRCh37: Chr4:88979203 GRCh38: Chr4:88058051	PKD2	L656W	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147955134.	NM_000297.4(PKD2):c.235C>T (p.Leu79Phe) GRCh37: Chr4:88929120 GRCh38: Chr4:88007968	PKD2	L79F	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146108635.	NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys) GRCh37: Chr4:88967868 GRCh38: Chr4:88046716	PKD2	Y465C	not provided, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145886236.	NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) GRCh37: Chr4:88940654 GRCh38: Chr4:88019502	PKD2	E214*	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Pathogenic (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144760837.	NM_000297.4(PKD2):c.251G>A (p.Arg84Gln) GRCh37: Chr4:88929136 GRCh38: Chr4:88007984	PKD2	R84Q	Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Uncertain significance (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140919138.	NM_000297.4(PKD2):c.2428G>A (p.Asp810Asn) GRCh37: Chr4:88989119 GRCh38: Chr4:88067967	PKD2	D810N	Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140634439.	NM_000297.4(PKD2):c.1931T>C (p.Ile644Thr) GRCh37: Chr4:88979167 GRCh38: Chr4:88058015	PKD2	I644T	Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136571240.	NM_000297.4(PKD2):c.2585C>T (p.Ala862Val) GRCh37: Chr4:88996026 GRCh38: Chr4:88074874	PKD2	A862V	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135724641.	NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro) GRCh37: Chr4:88989182 GRCh38: Chr4:88068030	PKD2	S831P	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135675442.	NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro) GRCh37: Chr4:88973248 GRCh38: Chr4:88052096	PKD2	A552P	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135574643.	NM_000297.4(PKD2):c.776A>C (p.Asp259Ala) GRCh37: Chr4:88957438 GRCh38: Chr4:88036286	PKD2	D259A	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134504744.	NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser) GRCh37: Chr4:88986607 GRCh38: Chr4:88065455	PKD2	G734S	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134489145.	NM_000297.4(PKD2):c.41del (p.Asp14fs) GRCh37: Chr4:88928926 GRCh38: Chr4:88007774	PKD2	D14fs	Polycystic kidney disease 2	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 134289146.	NM_000297.4(PKD2):c.2019+3A>G GRCh37: Chr4:88979258 GRCh38: Chr4:88058106	PKD2		Polycystic kidney disease 2	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 133601647.	NM_000297.4(PKD2):c.2460C>T (p.Ser820=) GRCh37: Chr4:88989151 GRCh38: Chr4:88067999	PKD2		Autosomal dominant polycystic kidney disease, not specified, Polycystic kidney disease 2	Benign/Likely benign (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133444748.	NM_000297.4(PKD2):c.2020-5A>G GRCh37: Chr4:88983053 GRCh38: Chr4:88061901	PKD2		Polycystic kidney disease 2	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 133407949.	NM_000297.4(PKD2):c.485C>T (p.Pro162Leu) GRCh37: Chr4:88929370 GRCh38: Chr4:88008218	PKD2	P162L	Polycystic kidney disease 2	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132840550.	NM_000297.4(PKD2):c.916C>G (p.Arg306Gly) GRCh37: Chr4:88959475 GRCh38: Chr4:88038323	PKD2	R306G	Polycystic kidney disease 2, Anhydramnios, Multiple renal cysts	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132837551.	NM_000297.4(PKD2):c.1903A>C (p.Thr635Pro) GRCh37: Chr4:88979139 GRCh38: Chr4:88057987	PKD2	T635P	Polycystic kidney disease 2	Uncertain significance	no assertion criteria provided
Select item 130864152.	NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs) GRCh37: Chr4:88979211-88979214 GRCh38: Chr4:88058059-88058062	PKD2	Y660fs	Polycystic kidney disease 2	Pathogenic (Oct 18, 2021)	criteria provided, single submitter
Select item 125645853.	NM_000297.4(PKD2):c.783dup (p.Val262fs) GRCh37: Chr4:88957440-88957441 GRCh38: Chr4:88036288-88036289	PKD2	V262fs	not provided, Polycystic kidney disease 2	Pathogenic/Likely pathogenic (Sep 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125568454.	NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) GRCh37: Chr4:88989199 GRCh38: Chr4:88068047	PKD2	Y836*	Polycystic kidney disease 2	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 125553555.	NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe) GRCh37: Chr4:88996785 GRCh38: Chr4:88075633	PKD2	S949F	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117916856.	GRCh37/hg19 4q22.1(chr4:88973122-88979275) GRCh37: Chr4:88973122-88979275	PKD2		Polycystic kidney disease 2	Likely pathogenic	no assertion criteria provided
Select item 117907357.	NM_000297.4(PKD2):c.952dup (p.Val318fs) GRCh37: Chr4:88959507-88959508 GRCh38: Chr4:88038355-88038356	PKD2	V318fs	not provided, Polycystic kidney disease 2	Pathogenic (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 117906358.	NM_000297.4(PKD2):c.110del (p.Gly37fs) GRCh37: Chr4:88928993 GRCh38: Chr4:88007841	PKD2	G37fs	Polycystic kidney disease 2	Pathogenic (Jun 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117741859.	NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) GRCh37: Chr4:88977358 GRCh38: Chr4:88056206	PKD2	Q613*	Polycystic kidney disease 2, not provided	Pathogenic/Likely pathogenic (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117737260.	NM_000297.4(PKD2):c.1116dup (p.Asp373fs) GRCh37: Chr4:88964401-88964402 GRCh38: Chr4:88043249-88043250	PKD2	D373fs	Polycystic kidney disease 2	Likely pathogenic (Jul 8, 2021)	criteria provided, single submitter
Select item 117283961.	NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) GRCh37: Chr4:88957435 GRCh38: Chr4:88036283	PKD2	L258P	not provided, Polycystic kidney disease 2	Conflicting interpretations of pathogenicity (Dec 2, 2022)	criteria provided, conflicting interpretations
Select item 117079562.	NM_000297.4(PKD2):c.2164G>T (p.Val722Leu) GRCh37: Chr4:88986571 GRCh38: Chr4:88065419	PKD2	V722L	not provided, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Benign/Likely benign (Nov 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116099663.	NM_000297.4(PKD2):c.2583C>T (p.Asp861=) GRCh37: Chr4:88996024 GRCh38: Chr4:88074872	PKD2		Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Likely benign (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115352364.	NM_000297.4(PKD2):c.1717-7C>T GRCh37: Chr4:88977231 GRCh38: Chr4:88056079	PKD2		Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111146165.	NM_000297.4(PKD2):c.783C>T (p.Pro261=) GRCh37: Chr4:88957445 GRCh38: Chr4:88036293	PKD2		Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110590566.	NM_000297.4(PKD2):c.2499C>T (p.Gly833=) GRCh37: Chr4:88989190 GRCh38: Chr4:88068038	PKD2		Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107006767.	NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) GRCh37: Chr4:88959577 GRCh38: Chr4:88038425	PKD2	E340*	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Pathogenic (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106557468.	NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala) GRCh37: Chr4:88964443 GRCh38: Chr4:88043291	PKD2	T385A	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Conflicting interpretations of pathogenicity (May 31, 2022)	criteria provided, conflicting interpretations
Select item 106035869.	NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly) GRCh37: Chr4:88996055 GRCh38: Chr4:88074903	PKD2	R872G	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105941970.	NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn) GRCh37: Chr4:88979163 GRCh38: Chr4:88058011	PKD2	D643N	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104977971.	NM_000297.4(PKD2):c.2318A>G (p.His773Arg) GRCh37: Chr4:88986991 GRCh38: Chr4:88065839	PKD2	H773R	Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Uncertain significance (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104793272.	NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln) GRCh37: Chr4:88989099 GRCh38: Chr4:88067947	PKD2	R803Q	Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103229973.	NM_000297.4(PKD2):c.1487G>A (p.Arg496His) GRCh37: Chr4:88967961 GRCh38: Chr4:88046809	PKD2	R496H	Polycystic kidney disease 2	Uncertain significance (May 10, 2018)	criteria provided, single submitter
Select item 102978074.	NM_000297.4(PKD2):c.697G>A (p.Val233Ile) GRCh37: Chr4:88940711 GRCh38: Chr4:88019559	PKD2	V233I	Polycystic kidney disease 2	Uncertain significance (Jan 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102355575.	NM_000297.4(PKD2):c.2358+5G>A GRCh37: Chr4:88987036 GRCh38: Chr4:88065884	PKD2		Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Uncertain significance (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99728376.	NM_000297.4(PKD2):c.2391A>C (p.Pro797=) GRCh37: Chr4:88989082 GRCh38: Chr4:88067930	PKD2		Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99724577.	NM_000297.4(PKD2):c.710-10T>G GRCh37: Chr4:88957362 GRCh38: Chr4:88036210	PKD2		Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99723478.	NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) GRCh37: Chr4:88973303 GRCh38: Chr4:88052151	PKD2	W570L	Polycystic kidney disease 2	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 99721779.	NM_000297.4(PKD2):c.843+1G>A GRCh37: Chr4:88957506 GRCh38: Chr4:88036354	PKD2		Polycystic kidney disease 2	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 99721680.	NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) GRCh37: Chr4:88929452 GRCh38: Chr4:88008300	PKD2	W189*	Polycystic kidney disease 2	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 99713881.	NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) GRCh37: Chr4:88973203 GRCh38: Chr4:88052051	PKD2	Q537*	Polycystic kidney disease 2	Pathogenic (Aug 10, 2021)	criteria provided, single submitter
Select item 99711482.	NM_000297.4(PKD2):c.1716+2T>A GRCh37: Chr4:88973312 GRCh38: Chr4:88052160	PKD2		Polycystic kidney disease 2	Pathogenic (May 26, 2022)	criteria provided, single submitter
Select item 99711083.	NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs) GRCh37: Chr4:88979232-88979235 GRCh38: Chr4:88058080-88058083	PKD2	F666fs	Polycystic kidney disease 2	Pathogenic (Oct 12, 2021)	criteria provided, single submitter
Select item 99710984.	NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del) GRCh37: Chr4:88977331-88977333 GRCh38: Chr4:88056179-88056181	PKD2	F605del	Polycystic kidney disease 2	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 99472785.	NM_000297.4(PKD2):c.733A>C (p.Asn245His) GRCh37: Chr4:88957395 GRCh38: Chr4:88036243	PKD2	N245H	Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, not provided	Uncertain significance (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99297786.	NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs) GRCh37: Chr4:88928996-88929002 GRCh38: Chr4:88007844-88007850	PKD2	S39fs	Polycystic kidney disease 2	Likely pathogenic (Sep 10, 2020)	no assertion criteria provided
Select item 99246287.	NM_000297.4(PKD2):c.1390del (p.Arg464fs) GRCh37: Chr4:88967863 GRCh38: Chr4:88046711	PKD2	R464fs	Polycystic kidney disease 2	Likely pathogenic (Mar 26, 2020)	no assertion criteria provided
Select item 97682388.	NM_000297.4(PKD2):c.2118+1G>C GRCh37: Chr4:88983157 GRCh38: Chr4:88062005	PKD2		Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Pathogenic (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97660289.	NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys) GRCh37: Chr4:88967960 GRCh38: Chr4:88046808	PKD2	R496C	Polycystic kidney disease 2	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 97657390.	NM_000297.4(PKD2):c.1496A>G (p.Lys499Arg) GRCh37: Chr4:88967970 GRCh38: Chr4:88046818	PKD2	K499R	Polycystic kidney disease 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 97505491.	NM_000297.4(PKD2):c.2522+1_2522+2del GRCh37: Chr4:88989212-88989213 GRCh38: Chr4:88068060-88068061	PKD2		Polycystic kidney disease 2	Pathogenic (Jul 3, 2018)	criteria provided, single submitter
Select item 97454492.	NM_000297.4(PKD2):c.2119-2A>G GRCh37: Chr4:88986524 GRCh38: Chr4:88065372	PKD2		Polycystic kidney disease 2	Pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97454393.	NM_000297.4(PKD2):c.1445del (p.Phe482fs) GRCh37: Chr4:88967917 GRCh38: Chr4:88046765	PKD2	F482fs	Polycystic kidney disease 2	Pathogenic (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97440894.	NM_000297.4(PKD2):c.2508C>A (p.Tyr836Ter) GRCh37: Chr4:88989199 GRCh38: Chr4:88068047	PKD2	Y836*	Polycystic kidney disease 2	Pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97268095.	NM_000297.4(PKD2):c.2744G>A (p.Arg915His) GRCh37: Chr4:88996683 GRCh38: Chr4:88075531	PKD2	R915H	Polycystic kidney disease 2	Uncertain significance (Nov 15, 2019)	criteria provided, single submitter
Select item 97267596.	NM_000297.4(PKD2):c.2844del (p.Ser949fs) GRCh37: Chr4:88996782 GRCh38: Chr4:88075630	PKD2	S949fs	Polycystic kidney disease 2	Pathogenic (Apr 25, 2019)	criteria provided, single submitter
Select item 96650797.	NM_000297.4(PKD2):c.2762C>T (p.Ala921Val) GRCh37: Chr4:88996701 GRCh38: Chr4:88075549	PKD2	A921V	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95753798.	NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser) GRCh37: Chr4:88964551 GRCh38: Chr4:88043399	PKD2	A421S	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93783799.	NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr) GRCh37: Chr4:88964551 GRCh38: Chr4:88043399	PKD2	A421T	Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2	Uncertain significance (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 932029100.	NM_000297.4(PKD2):c.1469A>T (p.Glu490Val) GRCh37: Chr4:88967943 GRCh38: Chr4:88046791	PKD2	E490V	Polycystic kidney disease 2	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter

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