5972[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 581121.	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 GRCh37: Chr1:187113113-224487119 GRCh38: Chr1:187143981-224299417	ADIPOR1, ADORA1, AIDA, ANGEL2, ARL8A, ASCL5, ASPM, ATF3, ATP2B4, ATP6V1G3, AVPR1B, B3GALT2, BATF3, BLACAT1, BMNCR, BPNT1, BRINP3, BRINP3-DT, BROX, BTG2, BTG2-DT, C1orf115, C1orf116, C1orf53, C1orf74, C4BPA, C4BPB, CACNA1S, CAMK1G, CAMSAP2, CAPN2, CAPN8, CCDC185, CD34, CD46, CD55, CDC73, CDK18, CENPF, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CRB1, CSRP1, CSRP1-AS1, CTSE, CYB5R1, DDX59, DDX59-AS1, DEGS1, DENND1B, DISP1, DSTYK, DTL, DUSP10, DYRK3, DYRK3-AS1, EIF2D, ELF3, ELF3-AS1, ELK4, EPRS1, ERLNC1, ESRRG, ETNK2, F13B, FAM177B, FAM72A, FBXO28, FCAMR, FCMR, FLVCR1, FLVCR1-DT, FMOD, G0S2, GARIN4, GLRX2, GOLT1A, GPATCH2, GPR25, GPR37L1, HHAT, HHIPL2, HLX, HLX-AS1, HSD11B1, HSD11B1-AS1, IARS2, IGFN1, IKBKE, IKBKE-AS1, IL10, IL19, IL20, IL24, INAVA, INTS7, IPO9, IPO9-AS1, IRF6, KCNH1, KCNH1-IT1, KCNK2, KCNT2, KCTD3, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAMB3, LAX1, LEMD1, LEMD1-AS1, LEMD1-DT, LGR6, LHX9, LINC00210, LINC00260, LINC00303, LINC00467, LINC00538, LINC00628, LINC00862, LINC01031, LINC01035, LINC01036, LINC01037, LINC01221, LINC01222, LINC01352, LINC01353, LINC01653, LINC01655, LINC01680, LINC01696, LINC01698, LINC01710, LINC01717, LINC01720, LINC01724, LINC01740, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02767, LINC02769, LINC02771, LINC02773, LINC02779, LINC02789, LINC02817, LINC02869, LMOD1, LOC101927143, LOC101927164, LOC103021295, LOC107325941, LOC107325942, LOC107548112, LOC107988045, LOC108281163, LOC108281185, LOC110120610, LOC110120807, LOC110121042, LOC110121056, LOC110121057, LOC110121081, LOC110121257, LOC110121306, LOC111365207, LOC111429603, LOC111429604, LOC111429612, LOC111556116, LOC111721704, LOC112577523, LOC112577526, LOC112577527, LOC112577528, LOC112577529, LOC112577530, LOC112577531, LOC112577532, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC113939983, LOC113939984, LOC114827844, LOC115804237, LOC115804238, LOC115804239, LOC115804240, LOC115804242, LOC115804243, LOC115804244, LOC115804245, LOC115804246, LOC120807609, LOC120807610, LOC120893169, LOC120893170, LOC120893171, LOC120893172, LOC120893173, LOC120893174, LOC120893175, LOC120893176, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC121725067, LOC121725068, LOC121725069, LOC121725070, LOC121725071, LOC121725072, LOC121725073, LOC121725074, LOC122094914, LOC122128411, LOC122149331, LOC122149332, LOC122149333, LOC122149334, LOC122149335, LOC122149336, LOC122149337, LOC122149338, LOC122149339, LOC122149340, LOC122149341, LOC122149342, LOC122149343, LOC122149344, LOC122149345, LOC122149346, LOC122149347, LOC122149348, LOC122149349, LOC122149350, LOC122149351, LOC122149352, LOC122149353, LOC122149354, LOC122149355, LOC122149356, LOC122149357, LOC122149358, LOC122149359, LOC122149360, LOC122149361, LOC122149362, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC124904584, LOC148696, LOC284581, LPGAT1, LPGAT1-AS1, LRRN2, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, MAPKAPK2, MARK1, MDM4, MFSD4A, MFSD4A-AS1, MIA3, MIR1231, MIR1278, MIR135B, MIR181A1, MIR181A1HG, MIR181B1, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR320B2, MIR4260, MIR4426, MIR4735, MIR5191, MIR664A, MIR6739, MIR6740, MIR6769B, MTARC1, MTARC2, MYBPH, MYOG, MYOPARR, NAV1, NEK2, NEK2-DT, NEK7, NENF, NFASC, NR5A2, NSL1, NTRAS, NUAK2, NUCKS1, NVL, OPTC, PACC1, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PPP2R5A, PRELP, PROX1, PROX1-AS1, PTPN14, PTPN7, PTPRC, RAB29, RAB3GAP2, RAB7B, RABIF, RASSF5, RBBP5, RCOR3, RD3, REN, RGS1, RGS13, RGS18, RGS2, RGS2-AS1, RGS21, RHEX, RNPEP, RO60, RPS6KC1, RRP15, SCARNA18B, SERTAD4, SERTAD4-AS1, SHISA4, SLC26A9, SLC26A9-AS1, SLC30A1, SLC30A10, SLC41A1, SLC45A3, SMYD2, SNORA16B, SNORA36B, SNORA70H, SNORA77, SNRPE, SOX13, SPATA17, SPATA17-AS1, SPATA45, SRGAP2, SUSD4, SYT14, SYT2, TAF1A, TAF1A-AS1, TATDN3, TGFB2, TGFB2-AS1, TGFB2-OT1, TIMM17A, TLR5, TMCC2, TMCC2-AS1, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, TP53BP2, TRAF3IP3, TRAF5, TRK-TTT3-1, TRK-TTT3-2, TRK-TTT8-1, TRT-TGT2-1, UBE2T, UCHL5, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, YOD1, ZBED6, ZBTB41, ZC3H11A, ZC3H11B, ZNF281		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5451542.	NC_000001.11:g.(?_204033173)_(208209798_?)del GRCh38: Chr1:204033173-208209798	CNTN2, LOC122149351, LOC122149352, LOC122149353, TRK-TTT8-1, YOD1, LOC122149359, LOC122149360, LOC122149361, LOC122149362, LOC122149487, LOC122149488, LOC122149354, LOC122149355, LOC122149356, LOC122149489, LOC124904584, LOC148696, LOC284581, LRRN2, MAPKAPK2, MDM4, MFSD4A, MFSD4A-AS1, LOC122149357, LOC122149358, CTSE, DSTYK, CR1, CR1L, DYRK3, DYRK3-AS1, EIF2D, ELK4, ERLNC1, CR2, AVPR1B, BLACAT1, C1orf116, C1orf147, C4BPA, C4BPB, CD34, CD46, CD55, CDK18, ETNK2, FAM72A, FCAMR, FCMR, GOLT1A, IKBKE, IL10, IL19, IL20, IL24, KISS1, KLHDC8A, LEMD1, LEMD1-AS1, LEMD1-DT, LINC00303, LINC00628, LINC02767, LOC103021295, LOC107548112, LOC110121081, LOC111365207, LOC111429612, LOC112577532, LOC112577533, LOC115804244, LOC120807609, LOC120893175, LOC120893176, LOC121725069, LOC121725070, LOC121725071, LOC122094914, LOC122128411, LOC122149349, LOC122149350, MIR135B, MIR29B2, MIR29B2CHG, MIR29C, MIR6769B, NFASC, NUAK2, NUCKS1, PFKFB2, PIGR, PIK3C2B, PLEKHA6, PLXNA2, PM20D1, PPP1R15B, RAB29, RAB7B, RASSF5, RBBP5, REN, RHEX, SLC26A9, SLC26A9-AS1, SLC41A1, SLC45A3, SOX13, SRGAP2, TMCC2, TMCC2-AS1, TMEM81, TRK-TTT3-1, TRK-TTT3-2		Autism	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 10497313.	NM_000537.4(REN):c.1220G>T (p.Ter407Leu) GRCh37: Chr1:204124145 GRCh38: Chr1:204155017	REN		not provided	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 13433094.	NM_000537.4(REN):c.1216C>T (p.Arg406Cys) GRCh37: Chr1:204124149 GRCh38: Chr1:204155021	REN	R406C	Hepatoblastoma	Likely pathogenic	no assertion criteria provided
Select item 15038825.	NM_000537.4(REN):c.1196G>A (p.Arg399His) GRCh37: Chr1:204124169 GRCh38: Chr1:204155041	REN	R399H	not provided	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 23934746.	NM_000537.4(REN):c.1187G>A (p.Arg396His) GRCh37: Chr1:204124178 GRCh38: Chr1:204155050	REN	R396H	Inborn genetic diseases	Likely benign (Dec 21, 2022)	criteria provided, single submitter
Select item 13391847.	NM_000537.4(REN):c.1186C>T (p.Arg396Cys) GRCh37: Chr1:204124179 GRCh38: Chr1:204155051	REN	R396C	Familial juvenile hyperuricemic nephropathy type 2	Uncertain significance	criteria provided, single submitter
Select item 7419588.	NM_000537.4(REN):c.1183C>A (p.Arg395=) GRCh37: Chr1:204124182 GRCh38: Chr1:204155054	REN		not provided	Likely benign (May 3, 2018)	criteria provided, single submitter
Select item 24153889.	NM_000537.4(REN):c.1160G>A (p.Arg387Gln) GRCh37: Chr1:204124205 GRCh38: Chr1:204155077	REN	R387Q	not provided, Familial juvenile hyperuricemic nephropathy type 2	Uncertain significance (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1312210.	NM_000537.4(REN):c.1159C>T (p.Arg387Ter) GRCh37: Chr1:204124206 GRCh38: Chr1:204155078	REN	R387*	Hyperproreninemia, familial	Pathogenic (Dec 2, 1994)	no assertion criteria provided
Select item 87661511.	NM_000537.4(REN):c.1118C>T (p.Pro373Leu) GRCh37: Chr1:204124247 GRCh38: Chr1:204155119	REN	P373L	Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 213718512.	NM_000537.4(REN):c.1101C>T (p.His367_Ala368=) GRCh37: Chr1:204124264 GRCh38: Chr1:204155136	REN		not provided	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 29495013.	NM_000537.4(REN):c.1076A>T (p.Lys359Ile) GRCh37: Chr1:204124289 GRCh38: Chr1:204155161	REN	K359I	Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 117778214.	NM_000537.4(REN):c.1060-66del GRCh37: Chr1:204124371 GRCh38: Chr1:204155243	REN		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 128198215.	NM_000537.4(REN):c.1060-240T>C GRCh37: Chr1:204124545 GRCh38: Chr1:204155417	REN		not provided	Benign (Jun 21, 2021)	criteria provided, single submitter
Select item 123959116.	NM_000537.4(REN):c.1059+83G>A GRCh37: Chr1:204124865 GRCh38: Chr1:204155737	REN		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 87661617.	NM_000537.4(REN):c.1032G>A (p.Thr344=) GRCh37: Chr1:204124975 GRCh38: Chr1:204155847	REN		Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Jan 22, 2018)	criteria provided, conflicting interpretations
Select item 219821618.	NM_000537.4(REN):c.1031C>T (p.Thr344Met) GRCh37: Chr1:204124976 GRCh38: Chr1:204155848	REN	T344M	not provided, Inborn genetic diseases	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206616419.	NM_000537.4(REN):c.1009C>T (p.His337Tyr) GRCh37: Chr1:204124998 GRCh38: Chr1:204155870	REN	H337Y	not provided	Benign (Jul 5, 2022)	criteria provided, single submitter
Select item 74928920.	NM_000537.4(REN):c.978C>T (p.Asn326=) GRCh37: Chr1:204125029 GRCh38: Chr1:204155901	REN		not provided	Likely benign (Mar 28, 2018)	criteria provided, single submitter
Select item 72910221.	NM_000537.4(REN):c.969G>T (p.Val323=) GRCh37: Chr1:204125038 GRCh38: Chr1:204155910	REN		not provided	Likely benign (Dec 4, 2017)	criteria provided, single submitter
Select item 75368322.	NM_000537.4(REN):c.961-5C>A GRCh37: Chr1:204125051 GRCh38: Chr1:204155923	REN		Renal tubular dysgenesis, not provided, Familial juvenile hyperuricemic nephropathy type 2	Conflicting interpretations of pathogenicity (Jan 23, 2022)	criteria provided, conflicting interpretations
Select item 207601023.	NM_000537.4(REN):c.961-8C>A GRCh37: Chr1:204125054 GRCh38: Chr1:204155926	REN		not provided	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 29495124.	NM_000537.4(REN):c.961-12C>A GRCh37: Chr1:204125058 GRCh38: Chr1:204155930	REN		Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 123655525.	NM_000537.4(REN):c.961-43C>T GRCh37: Chr1:204125089 GRCh38: Chr1:204155961	REN		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 118006226.	NM_000537.4(REN):c.960+34G>T GRCh37: Chr1:204125272 GRCh38: Chr1:204156144	REN		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 72433227.	NM_000537.4(REN):c.954G>A (p.Leu318=) GRCh37: Chr1:204125312 GRCh38: Chr1:204156184	REN		not provided	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 230521928.	NM_000537.4(REN):c.929A>G (p.Glu310Gly) GRCh37: Chr1:204125337 GRCh38: Chr1:204156209	REN	E310G	Inborn genetic diseases	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 189778829.	NM_000537.4(REN):c.928G>A (p.Glu310Lys) GRCh37: Chr1:204125338 GRCh38: Chr1:204156210	REN	E310K	not provided	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 223546430.	NM_000537.4(REN):c.914T>C (p.Ile305Thr) GRCh37: Chr1:204125352 GRCh38: Chr1:204156224	REN	I305T	Inborn genetic diseases	Uncertain significance (Jul 8, 2021)	criteria provided, single submitter
Select item 87376831.	NM_000537.4(REN):c.871G>A (p.Val291Ile) GRCh37: Chr1:204125395 GRCh38: Chr1:204156267	REN	V291I	Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 29495232.	NM_000537.4(REN):c.855C>T (p.Asp285=) GRCh37: Chr1:204125411 GRCh38: Chr1:204156283	REN		Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 87376933.	NM_000537.4(REN):c.832T>C (p.Ser278Pro) GRCh37: Chr1:204125434 GRCh38: Chr1:204156306	REN	S278P	Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 208185034.	NM_000537.4(REN):c.819-10C>A GRCh37: Chr1:204125457 GRCh38: Chr1:204156329	REN		not provided	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 189956135.	NM_000537.4(REN):c.819-45TCTG[13] GRCh37: Chr1:204125464-204125465 GRCh38: Chr1:204156336-204156337	REN		not provided	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 159913636.	NM_000537.4(REN):c.819-45TCTG[11] GRCh37: Chr1:204125464-204125465 GRCh38: Chr1:204156336-204156337	REN		Renal tubular dysgenesis of genetic origin, Familial juvenile hyperuricemic nephropathy type 2, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159880937.	NM_000537.4(REN):c.819-45TCTG[8] GRCh37: Chr1:204125464-204125465 GRCh38: Chr1:204156336-204156337	REN		not provided	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 128406638.	NM_000537.4(REN):c.819-45TCTG[10] GRCh37: Chr1:204125464-204125465 GRCh38: Chr1:204156336-204156337	REN		not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126311039.	NM_000537.4(REN):c.819-45TCTG[9] GRCh37: Chr1:204125464-204125465 GRCh38: Chr1:204156336-204156337	REN		not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 189936140.	NM_000537.4(REN):c.819-45TCTG[5] GRCh37: Chr1:204125465-204125472 GRCh38: Chr1:204156337-204156344	REN		not provided	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 128857041.	NM_000537.4(REN):c.819-45TCTG[6] GRCh37: Chr1:204125465-204125468 GRCh38: Chr1:204156337-204156340	REN		not provided	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128338042.	NM_000537.4(REN):c.819-62A>C GRCh37: Chr1:204125509 GRCh38: Chr1:204156381	REN		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 29495343.	NM_000537.4(REN):c.817G>C (p.Gly273Arg) GRCh37: Chr1:204125806 GRCh38: Chr1:204156678	REN	G273R	not provided, Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74727944.	NM_000537.4(REN):c.810A>G (p.Gln270=) GRCh37: Chr1:204125813 GRCh38: Chr1:204156685	REN		not provided	Likely benign (Apr 4, 2018)	criteria provided, single submitter
Select item 220597545.	NM_000537.4(REN):c.757G>A (p.Glu253Lys) GRCh37: Chr1:204125866 GRCh38: Chr1:204156738	REN	E253K	Inborn genetic diseases	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 29495446.	NM_000537.4(REN):c.744C>A (p.Asp248Glu) GRCh37: Chr1:204125879 GRCh38: Chr1:204156751	REN	D248E	not provided, Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 87472347.	NM_000537.4(REN):c.718G>A (p.Gly240Arg) GRCh37: Chr1:204125905 GRCh38: Chr1:204156777	REN	G240R	Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Familial juvenile hyperuricemic nephropathy type 2, Familial juvenile hyperuricemic nephropathy type 2	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218133748.	NM_000537.4(REN):c.711G>A (p.Ser237_Leu238=) GRCh37: Chr1:204125912 GRCh38: Chr1:204156784	REN		not provided	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 190593849.	NM_000537.4(REN):c.699-6C>T GRCh37: Chr1:204125930 GRCh38: Chr1:204156802	REN		not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 193344550.	NM_000537.4(REN):c.699-12T>A GRCh37: Chr1:204125936 GRCh38: Chr1:204156808	REN		not provided	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 124742351.	NM_000537.4(REN):c.699-63A>G GRCh37: Chr1:204125987 GRCh38: Chr1:204156859	REN		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 128196252.	NM_000537.4(REN):c.698+111C>T GRCh37: Chr1:204126378 GRCh38: Chr1:204157250	REN		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 129515453.	NM_000537.4(REN):c.689+254G>A GRCh37: Chr1:204128273 GRCh38: Chr1:204159145	REN		not provided	Benign (Jun 21, 2021)	criteria provided, single submitter
Select item 1312454.	NM_000537.4(REN):c.689G>A (p.Arg230Lys) GRCh37: Chr1:204128527 GRCh38: Chr1:204159399	REN	R230K	Renal tubular dysgenesis	Pathogenic (Sep 1, 2005)	no assertion criteria provided
Select item 29495555.	NM_000537.4(REN):c.663G>A (p.Glu221=) GRCh37: Chr1:204128553 GRCh38: Chr1:204159425	REN		not provided, Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 87566356.	NM_000537.4(REN):c.661G>A (p.Glu221Lys) GRCh37: Chr1:204128555 GRCh38: Chr1:204159427	REN	E221K	Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 29495657.	NM_000537.4(REN):c.649G>A (p.Gly217Arg) GRCh37: Chr1:204128567 GRCh38: Chr1:204159439	REN	G217R	not provided, Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis, Kidney disorder	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 221630658.	NM_000537.4(REN):c.631G>A (p.Asp211Asn) GRCh37: Chr1:204128585 GRCh38: Chr1:204159457	REN	D211N	Inborn genetic diseases	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 29495759.	NM_000537.4(REN):c.630C>T (p.Phe210=) GRCh37: Chr1:204128586 GRCh38: Chr1:204159458	REN		not provided, Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Jun 5, 2018)	criteria provided, conflicting interpretations
Select item 171242660.	NM_000537.4(REN):c.614G>A (p.Arg205Lys) GRCh37: Chr1:204128602 GRCh38: Chr1:204159474	REN	R205K	Kidney disorder	Uncertain significance (Jun 25, 2018)	criteria provided, single submitter
Select item 191229161.	NM_000537.4(REN):c.543C>T (p.Pro181_Ala182=) GRCh37: Chr1:204128673 GRCh38: Chr1:204159545	REN		not provided	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 141395062.	NM_000537.4(REN):c.533C>T (p.Thr178Met) GRCh37: Chr1:204128683 GRCh38: Chr1:204159555	REN	T178M	not provided, Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis of genetic origin	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241542963.	NM_000537.4(REN):c.504C>A (p.Ile168_Thr169=) GRCh37: Chr1:204128712 GRCh38: Chr1:204159584	REN		not provided	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 124955564.	NM_000537.4(REN):c.493-131A>C GRCh37: Chr1:204128854 GRCh38: Chr1:204159726	REN		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 122618065.	NM_000537.4(REN):c.492+134A>G GRCh37: Chr1:204129554 GRCh38: Chr1:204160426	REN		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 25638066.	NM_000537.4(REN):c.492+17T>G GRCh37: Chr1:204129671 GRCh38: Chr1:204160543	REN		Kidney disorder, Renal tubular dysgenesis, not specified, not provided, Familial juvenile hyperuricemic nephropathy type 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29495867.	NM_000537.4(REN):c.492+12C>T GRCh37: Chr1:204129676 GRCh38: Chr1:204160548	REN		not provided, Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 171237468.	NM_000537.4(REN):c.492+6T>C GRCh37: Chr1:204129682 GRCh38: Chr1:204160554	REN		Kidney disorder	Uncertain significance (Aug 14, 2018)	criteria provided, single submitter
Select item 29495969.	NM_000537.4(REN):c.492+3A>G GRCh37: Chr1:204129685 GRCh38: Chr1:204160557	REN		not provided, Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis of genetic origin, Familial juvenile hyperuricemic nephropathy type 2, Kidney disorder	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 221432470.	NM_000537.4(REN):c.479A>G (p.Gln160Arg) GRCh37: Chr1:204129701 GRCh38: Chr1:204160573	REN	Q160R	Inborn genetic diseases	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 196635471.	NM_000537.4(REN):c.463A>G (p.Ser155Gly) GRCh37: Chr1:204129717 GRCh38: Chr1:204160589	REN	S155G	not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 171594872.	NM_000537.4(REN):c.452C>A (p.Thr151Lys) GRCh37: Chr1:204129728 GRCh38: Chr1:204160600	REN	T151K	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 171235973.	NM_000537.4(REN):c.443G>A (p.Arg148His) GRCh37: Chr1:204129737 GRCh38: Chr1:204160609	REN	R148H	not provided, Kidney disorder	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190409874.	NM_000537.4(REN):c.442C>T (p.Arg148Cys) GRCh37: Chr1:204129738 GRCh38: Chr1:204160610	REN	R148C	not provided	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 218335775.	NM_000537.4(REN):c.422A>G (p.Asn141Ser) GRCh37: Chr1:204129758 GRCh38: Chr1:204160630	REN	N141S	not provided	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 5021176.	NM_000537.4(REN):c.404C>A (p.Ser135Tyr) GRCh37: Chr1:204129776 GRCh38: Chr1:204160648	REN	S135Y	Renal tubular dysgenesis	Pathogenic (Jan 15, 2011)	no assertion criteria provided
Select item 29496077.	NM_000537.4(REN):c.398C>T (p.Ser133Leu) GRCh37: Chr1:204129782 GRCh38: Chr1:204160654	REN	S133L	Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 29496178.	NM_000537.4(REN):c.390C>T (p.Phe130=) GRCh37: Chr1:204129790 GRCh38: Chr1:204160662	REN		not provided, Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 29496279.	NM_000537.4(REN):c.374-13G>A GRCh37: Chr1:204129819 GRCh38: Chr1:204160691	REN		Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 127297280.	NM_000537.4(REN):c.373+293C>A GRCh37: Chr1:204130127 GRCh38: Chr1:204160999	REN		not provided	Benign (Jun 21, 2021)	criteria provided, single submitter
Select item 126719981.	NM_000537.4(REN):c.373+196dup GRCh37: Chr1:204130217-204130218 GRCh38: Chr1:204161089-204161090	REN		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 126841382.	NM_000537.4(REN):c.373+44C>G GRCh37: Chr1:204130376 GRCh38: Chr1:204161248	REN		not provided, Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73937083.	NM_000537.4(REN):c.373+7C>T GRCh37: Chr1:204130413 GRCh38: Chr1:204161285	REN		not provided	Likely benign (Apr 7, 2018)	criteria provided, single submitter
Select item 193983284.	NM_000537.4(REN):c.356G>A (p.Arg119His) GRCh37: Chr1:204130437 GRCh38: Chr1:204161309	REN	R119H	Inborn genetic diseases, not provided	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198148485.	NM_000537.4(REN):c.355C>T (p.Arg119Cys) GRCh37: Chr1:204130438 GRCh38: Chr1:204161310	REN	R119C	Inborn genetic diseases, not provided	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 235837986.	NM_000537.4(REN):c.322T>G (p.Ser108Ala) GRCh37: Chr1:204130471 GRCh38: Chr1:204161343	REN	S108A	Inborn genetic diseases	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 59198187.	NM_000537.4(REN):c.320C>T (p.Ser107Leu) GRCh37: Chr1:204130473 GRCh38: Chr1:204161345	REN	S107L	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 87381988.	NM_000537.4(REN):c.317G>C (p.Gly106Ala) GRCh37: Chr1:204130476 GRCh38: Chr1:204161348	REN	G106A	Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 125208089.	NM_000537.4(REN):c.299_300del (p.Lys100fs) GRCh37: Chr1:204130493-204130494 GRCh38: Chr1:204161365-204161366	REN	K100fs	Renal tubular dysgenesis	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 217519390.	NM_000537.4(REN):c.276C>T (p.Ile92_Gly93=) GRCh37: Chr1:204130517 GRCh38: Chr1:204161389	REN		not provided	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 29496391.	NM_000537.4(REN):c.267G>T (p.Glu89Asp) GRCh37: Chr1:204130526 GRCh38: Chr1:204161398	REN	E89D	Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Familial juvenile hyperuricemic nephropathy type 2	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 195118892.	NM_000537.4(REN):c.265G>A (p.Glu89Lys) GRCh37: Chr1:204130528 GRCh38: Chr1:204161400	REN	E89K	not provided	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 218204393.	NM_000537.4(REN):c.264C>G (p.Gly88_Glu89=) GRCh37: Chr1:204130529 GRCh38: Chr1:204161401	REN		not provided	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 198184994.	NM_000537.4(REN):c.262G>A (p.Gly88Ser) GRCh37: Chr1:204130531 GRCh38: Chr1:204161403	REN	G88S	not provided	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 219550895.	NM_000537.4(REN):c.257A>G (p.Tyr86Cys) GRCh37: Chr1:204130536 GRCh38: Chr1:204161408	REN	Y86C	not provided	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 93040996.	NM_000537.4(REN):c.255G>C (p.Gln85His) GRCh37: Chr1:204130538 GRCh38: Chr1:204161410	REN	Q85H	Renal tubular dysgenesis	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 215522897.	NM_000537.4(REN):c.251C>A (p.Thr84Asn) GRCh37: Chr1:204130542 GRCh38: Chr1:204161414	REN	T84N	not provided	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203205498.	NM_000537.4(REN):c.250-19T>C GRCh37: Chr1:204130562 GRCh38: Chr1:204161434	REN		not provided	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 122396099.	NM_000537.4(REN):c.249+110G>A GRCh37: Chr1:204131031 GRCh38: Chr1:204161903	REN		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 1289859100.	NM_000537.4(REN):c.249+79_249+80del GRCh37: Chr1:204131061-204131062 GRCh38: Chr1:204161933-204161934	REN		not provided	Benign (May 14, 2021)	criteria provided, single submitter

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