1636[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1483631.	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 GRCh37: Chr17:57595736-73049225 GRCh38: Chr17:36449220-75053130	B4GALNT2, BCAS3, BECN1, BPTF, BRCA1, BRIP1, BTBD17, C17orf113, C17orf47, C17orf58, C17orf67, C17orf78, C17orf80, C17orf98, C1QL1, CA10, CA4, CACNA1G, CACNA1G-AS1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CASC17, CASC3, CAVIN1, CBX1, CCDC103, CCDC182, CCDC200, CCDC43, CCDC47, CCR10, CCR7, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD300LG, CD79B, CDC27, CDC42EP4, CDC6, CDK12, CDK5RAP3, CDR2L, CEP112, CEP95, CFAP97D1, CHAD, CHCT1, CISD3, CLTC, CNP, CNTD1, CNTNAP1, COA3, COASY, COG1, COIL, COL1A1, COPZ2, COX11, CPSF4L, CRHR1, CSF3, CSH1, CSH2, CSHL1, CUEDC1, CWC25, CYB561, DBF4B, DCAF7, DCAKD, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX40, DHX58, DHX8, DLX3, DLX4, DNAI2, DNAJC7, DUSP14, DUSP3, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB13-DT, EFCAB3, EFTUD2, EIF1, EME1, EPN3, EPOP, EPX, ERBB2, ERN1, ETV4, EZH1, FADS6, FAM104A, FAM117A, FAM171A2, FAM187A, FAM20A, FAM215A, FAM215B, FBXL20, FBXO47, FDXR, FKBP10, FLJ40194, FLJ45513, FMNL1, FMNL1-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GNA13, GNGT2, GOSR2, GPATCH8, GPR142, GPR179, GPRC5C, GRB7, GRIN2C, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, HID1, HID1-AS1, HIGD1B, HLF, HNF1B, HOXB-AS1, HOXB-AS2, HOXB-AS3, HOXB-AS4, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HROB, HSD17B1, HSD17B1-AS1, HSF5, HSPB9, ICAM2, IFI35, IGBP1C, IGF2BP1, IGFBP4, IKZF3, INTS2, ITGA2B, ITGA3, ITGB3, JUP, KANSL1, KANSL1-AS1, KAT2A, KAT7, KCNH4, KCNH6, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF18B, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KPNB1-DT, KRT10, KRT10-AS1, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-16, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, LASP1, LHX1, LHX1-DT, LIMD2, LINC00469, LINC00511, LINC00671, LINC00672, LINC00673, LINC00674, LINC00910, LINC00974, LINC01028, LINC01152, LINC01180, LINC01476, LINC01482, LINC01483, LINC01497, LINC01969, LINC01974, LINC01976, LINC01982, LINC01999, LINC02003, LINC02071, LINC02072, LINC02073, LINC02074, LINC02075, LINC02079, LINC02086, LINC02089, LINC02092, LINC02097, LINC02210, LINC02210-CRHR1, LINC02563, LINC02594, LINC02875, LINC02876, LOC100134391, LOC100287808, LOC100505782, LOC100507002, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101928251, LOC101928343, LOC101929767, LOC102723517, LOC102724183, LOC105371763, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105371880, LOC105980078, LOC106677019, LOC106694315, LOC106694316, LOC108004529, LOC108004536, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108281137, LOC109280161, LOC109286563, LOC109609706, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121373, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589213, LOC111589215, LOC111589216, LOC111822952, LOC112529910, LOC112529911, LOC112529912, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC112533643, LOC112533644, LOC112533645, LOC112533646, LOC112533647, LOC112533648, LOC112533649, LOC112533650, LOC112533651, LOC112533652, LOC112533653, LOC112533654, LOC112533655, LOC112533658, LOC112533659, LOC112533660, LOC112533661, LOC112533662, LOC112533663, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC116276479, LOC120285839, LOC121587588, LOC121587589, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121587598, LOC121587599, LOC121587600, LOC121587601, LOC121587602, LOC121587603, LOC121587604, LOC121587605, LOC121603768, LOC121603769, LOC121603770, LOC121603771, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121852931, LOC121852932, LOC121852933, LOC121852934, LOC121852935, LOC121852936, LOC121852937, LOC121852938, LOC121852939, LOC121852940, LOC121852941, LOC121852942, LOC121852943, LOC121852944, LOC121852945, LOC121852946, LOC121852947, LOC121852948, LOC121852949, LOC121852950, LOC729683, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC3C, LRRC46, LRRC59, LSM12, LUC7L3, MAP2K6, MAP3K14, MAP3K14-AS1, MAP3K3, MAPT, MAPT-AS1, MAPT-IT1, MARCHF10, MARCHF10-DT, MBTD1, MED1, MED13, MED24, MEIOC, MEOX1, METTL2A, MGC16275, MIEN1, MILR1, MIR10226, MIR10A, MIR1203, MIR1273E, MIR142, MIR152, MIR196A1, MIR21, MIR2117, MIR2117HG, MIR2909, MIR301A, MIR3064, MIR3185, MIR3614, MIR3615, MIR378J, MIR4315-1, MIR4315-2, MIR4524A, MIR4524B, MIR454, MIR4726, MIR4727, MIR4728, MIR4729, MIR4734, MIR4736, MIR4737, MIR5010, MIR5047, MIR5089, MIR548AA2, MIR548AT, MIR548BC, MIR548D2, MIR6080, MIR6129, MIR6165, MIR633, MIR634, MIR635, MIR6510, MIR6779, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MIR8059, MKS1, MLLT6, MLX, MMD, MPO, MPP2, MPP3, MRC2, MRM1, MRPL10, MRPL27, MRPL45, MRPL58, MRPS23, MSI2, MSL1, MTMR4, MYCBPAP, MYL4, MYO19, NACA2, NAGLU, NAGS, NAT9, NBR1, NBR2, NEUROD2, NFE2L1, NFE2L1-DT, NGFR, NGFR-AS1, NKIRAS2, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NPEPPS, NR1D1, NSF, NT5C3B, NXPH3, ODAD4, OR4D1, OR4D2, ORMDL3, OSBPL7, OTOP2, OTOP3, P3H4, PCGF2, PCTP, PDK2, PECAM1, PGAP3, PHB1, PHOSPHO1, PICART1, PIGW, PIP4K2B, PITPNC1, PLCD3, PLEKHH3, PLEKHM1, PLXDC1, PNMT, PNPO, POLG2, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, PRAC2, PRKAR1A, PRKCA, PRKCA-AS1, PRO1804, PRR11, PRR15L, PRR29, PRR29-AS1, PSMB3, PSMC3IP, PSMC5, PSMD12, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRH2, PYY, RAB37, RAB5C, RAB5C-AS1, RAD51C, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, RGS9, RND2, RNF43, RNFT1, RNFT1-DT, RNU2-1, ROCR, RPL19, RPL23, RPL27, RPL38, RPRML, RPS6KB1, RSAD1, RUNDC1, RUNDC3A, RUNDC3A-AS1, SAMD14, SCARNA20, SCN4A, SCPEP1, SCRN2, SDK2, SEPTIN4, SEPTIN4-AS1, SGCA, SKA2, SKAP1, SKAP1-AS2, SLC16A6, SLC25A39, SLC35B1, SLC39A11, SLC4A1, SLC9A3R1, SLC9A3R1-AS1, SMARCD2, SMARCE1, SMG8, SMIM36, SMURF2, SNF8, SNHG25, SNORA21, SNORA21B, SNORA38B, SNORA50C, SNORA90, SNORD104, SNORD124, SNX11, SOCS7, SOST, SOX9, SOX9-AS1, SOX9CRE1, SP2, SP2-AS1, SP2-DT, SP6, SPAG9, SPATA20, SPATA32, SPOP, SPPL2C, SRCIN1, SRSF1, SSTR2, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, STRADA, STXBP4, SUPT4H1, SYNRG, TAC4, TACO1, TADA2A, TANC2, TBC1D3, TBC1D3C, TBC1D3D, TBC1D3E, TBC1D3K, TBC1D3L, TBKBP1, TEX14, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, TEX2, THRA, TLK2, TMEM100, TMEM101, TMEM104, TMEM106A, TMEM92, TMEM92-AS1, TMUB2, TNS4, TOB1, TOB1-AS1, TOM1L1, TOP2A, TRC-GCA14-1, TRC-GCA2-2, TRC-GCA2-3, TRC-GCA2-4, TRC-GCA4-1, TRIM25, TRIM37, TRN-GTT2-5, TRQ-TTG1-1, TRR-CCG2-1, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRSUP-TTA1-1, TSPOAP1, TSPOAP1-AS1, TTLL6, TTYH2, TUBD1, TUBG1, TUBG2, UBE2Z, UBTF, USH1G, USP32, UTP18, VAT1, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WIPI1, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2, AARSD1, AATF, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCA9-AS1, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, AMZ2, ANKFN1, ANKRD40, ANKRD40CL, AOC2, AOC3, APOH, APPBP2, APPBP2-DT, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ARSG, ASB16, ASB16-AS1, ATP5MC1, ATP5PD, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, AXIN2		See cases	Pathogenic (Apr 21, 2011)	no assertion criteria provided
Select item 572822.	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 GRCh37: Chr17:48563237-65936105 GRCh38: Chr17:36449220-68170214	AARSD1, AATF, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, ANKFN1, ANKRD40, ANKRD40CL, AOC2, AOC3, APOH, APPBP2, APPBP2-DT, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ASB16, ASB16-AS1, ATP5MC1, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, AXIN2, B4GALNT2, BCAS3, BECN1, BPTF, BRCA1, BRIP1, C17orf113, C17orf47, C17orf58, C17orf67, C17orf78, C17orf98, C1QL1, CA10, CA4, CACNA1G, CACNA1G-AS1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CASC3, CAVIN1, CBX1, CCDC103, CCDC182, CCDC200, CCDC43, CCDC47, CCR10, CCR7, CD300LG, CD79B, CDC27, CDC6, CDK12, CDK5RAP3, CEP112, CEP95, CFAP97D1, CHAD, CHCT1, CISD3, CLTC, CNP, CNTD1, CNTNAP1, COA3, COASY, COIL, COL1A1, COPZ2, COX11, CRHR1, CSF3, CSH1, CSH2, CSHL1, CUEDC1, CWC25, CYB561, DBF4B, DCAF7, DCAKD, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX40, DHX58, DHX8, DLX3, DLX4, DNAJC7, DUSP14, DUSP3, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB13-DT, EFCAB3, EFTUD2, EIF1, EME1, EPN3, EPOP, EPX, ERBB2, ERN1, ETV4, EZH1, FAM117A, FAM171A2, FAM187A, FAM215A, FAM215B, FBXL20, FBXO47, FKBP10, FLJ40194, FLJ45513, FMNL1, FMNL1-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GNA13, GNGT2, GOSR2, GPATCH8, GPR179, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, HIGD1B, HLF, HNF1B, HOXB-AS1, HOXB-AS2, HOXB-AS3, HOXB-AS4, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HROB, HSD17B1, HSD17B1-AS1, HSF5, HSPB9, ICAM2, IFI35, IGBP1C, IGF2BP1, IGFBP4, IKZF3, INTS2, ITGA2B, ITGA3, ITGB3, JUP, KANSL1, KANSL1-AS1, KAT2A, KAT7, KCNH4, KCNH6, KIF18B, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KPNB1-DT, KRT10, KRT10-AS1, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-16, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, LASP1, LHX1, LHX1-DT, LIMD2, LINC00671, LINC00672, LINC00674, LINC00910, LINC00974, LINC01180, LINC01476, LINC01969, LINC01974, LINC01976, LINC01982, LINC01999, LINC02071, LINC02072, LINC02073, LINC02075, LINC02079, LINC02086, LINC02089, LINC02210, LINC02210-CRHR1, LINC02563, LINC02594, LINC02875, LINC02876, LOC100287808, LOC100505782, LOC100507002, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101929767, LOC102724183, LOC105371763, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105980078, LOC106677019, LOC106694315, LOC106694316, LOC108004529, LOC108004536, LOC108281137, LOC109280161, LOC109286563, LOC109609706, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589213, LOC111589215, LOC111589216, LOC111822952, LOC112529910, LOC112529911, LOC112529912, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC112533643, LOC112533644, LOC112533645, LOC112533646, LOC112533647, LOC112533648, LOC112533649, LOC112533650, LOC112533651, LOC112533652, LOC112533653, LOC112533654, LOC112533655, LOC112533658, LOC112533659, LOC112533660, LOC112533661, LOC112533662, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC120285839, LOC121587588, LOC121587589, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121587598, LOC121587599, LOC121587600, LOC121587601, LOC121587602, LOC121587603, LOC121587604, LOC121587605, LOC121603768, LOC121603769, LOC121603770, LOC121603771, LOC121852931, LOC121852932, LOC121852933, LOC121852934, LOC121852935, LOC121852936, LOC121852937, LOC121852938, LOC121852939, LOC121852940, LOC121852941, LOC121852942, LOC121852943, LOC121852944, LOC121852945, LOC121852946, LOC121852947, LOC729683, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC3C, LRRC46, LRRC59, LSM12, LUC7L3, MAP3K14, MAP3K14-AS1, MAP3K3, MAPT, MAPT-AS1, MAPT-IT1, MARCHF10, MARCHF10-DT, MBTD1, MED1, MED13, MED24, MEIOC, MEOX1, METTL2A, MIEN1, MILR1, MIR10226, MIR10A, MIR1203, MIR1273E, MIR142, MIR152, MIR196A1, MIR21, MIR2117, MIR2117HG, MIR2909, MIR301A, MIR3064, MIR3185, MIR3614, MIR378J, MIR4315-1, MIR4315-2, MIR454, MIR4726, MIR4727, MIR4728, MIR4729, MIR4734, MIR4736, MIR4737, MIR5010, MIR5047, MIR5089, MIR548AA2, MIR548AT, MIR548BC, MIR548D2, MIR6080, MIR6129, MIR6165, MIR633, MIR634, MIR6510, MIR6779, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MIR8059, MKS1, MLLT6, MLX, MMD, MPO, MPP2, MPP3, MRC2, MRM1, MRPL10, MRPL27, MRPL45, MRPS23, MSI2, MSL1, MTMR4, MYCBPAP, MYL4, MYO19, NACA2, NAGLU, NAGS, NBR1, NBR2, NEUROD2, NFE2L1, NFE2L1-DT, NGFR, NGFR-AS1, NKIRAS2, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NPEPPS, NR1D1, NSF, NT5C3B, NXPH3, ODAD4, OR4D1, OR4D2, ORMDL3, OSBPL7, P3H4, PCGF2, PCTP, PDK2, PECAM1, PGAP3, PHB1, PHOSPHO1, PICART1, PIGW, PIP4K2B, PITPNC1, PLCD3, PLEKHH3, PLEKHM1, PLXDC1, PNMT, PNPO, POLG2, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, PRAC2, PRKCA, PRKCA-AS1, PRR11, PRR15L, PRR29, PRR29-AS1, PSMB3, PSMC3IP, PSMC5, PSMD12, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRH2, PYY, RAB5C, RAB5C-AS1, RAD51C, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, RGS9, RND2, RNF43, RNFT1, RNFT1-DT, RNU2-1, RPL19, RPL23, RPL27, RPRML, RPS6KB1, RSAD1, RUNDC1, RUNDC3A, RUNDC3A-AS1, SAMD14, SCARNA20, SCN4A, SCPEP1, SCRN2, SEPTIN4, SEPTIN4-AS1, SGCA, SKA2, SKAP1, SKAP1-AS2, SLC25A39, SLC35B1, SLC4A1, SMARCD2, SMARCE1, SMG8, SMIM36, SMURF2, SNF8, SNHG25, SNORA21, SNORA21B, SNORA38B, SNORA50C, SNORA90, SNORD104, SNORD124, SNX11, SOCS7, SOST, SP2, SP2-AS1, SP2-DT, SP6, SPAG9, SPATA20, SPATA32, SPOP, SPPL2C, SRCIN1, SRSF1, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, STRADA, STXBP4, SUPT4H1, SYNRG, TAC4, TACO1, TADA2A, TANC2, TBC1D3, TBC1D3C, TBC1D3D, TBC1D3E, TBC1D3K, TBC1D3L, TBKBP1, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, TEX14, TEX2, THRA, TLK2, TMEM100, TMEM101, TMEM106A, TMEM92, TMEM92-AS1, TMUB2, TNS4, TOB1, TOB1-AS1, TOM1L1, TOP2A, TRC-GCA14-1, TRC-GCA2-2, TRC-GCA2-3, TRC-GCA2-4, TRC-GCA4-1, TRIM25, TRIM37, TRN-GTT2-5, TRQ-TTG1-1, TRR-CCG2-1, TRSUP-TTA1-1, TSPOAP1, TSPOAP1-AS1, TTLL6, TUBD1, TUBG1, TUBG2, UBE2Z, UBTF, USP32, UTP18, VAT1, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 12315113.	Single allele GRCh37: Chr17:61554194 GRCh38: Chr17:63476833	ACE		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 12857564.	Single allele GRCh37: Chr17:61554341 GRCh38: Chr17:63476980	ACE		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 4265455.	NM_000789.3(ACE):c.-35_-33delGAG GRCh37: Chr17:61554419-61554421 GRCh38: Chr17:63477058-63477060	ACE		not provided	Uncertain significance (Apr 12, 2017)	criteria provided, single submitter
Select item 12153246.	NM_000789.4(ACE):c.2T>C (p.Met1Thr) GRCh37: Chr17:61554457 GRCh38: Chr17:63477096	ACE	M1T	not provided	Pathogenic (Apr 5, 2021)	criteria provided, single submitter
Select item 21713887.	NM_000789.4(ACE):c.5G>A (p.Gly2Glu) GRCh37: Chr17:61554460 GRCh38: Chr17:63477099	ACE	G2E	not provided	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 3243578.	NM_000789.4(ACE):c.5G>T (p.Gly2Val) GRCh37: Chr17:61554460 GRCh38: Chr17:63477099	ACE	G2V	Renal tubular dysgenesis, not provided	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2085599.	NM_000789.4(ACE):c.12_31del (p.Ser5fs) GRCh37: Chr17:61554467-61554486 GRCh38: Chr17:63477106-63477125	ACE	S5fs	not provided, Renal tubular dysgenesis	Pathogenic/Likely pathogenic (Feb 28, 2018)	criteria provided, multiple submitters, no conflicts
Select item 203442210.	NM_000789.4(ACE):c.15G>C (p.Ser5_Gly6=) GRCh37: Chr17:61554470 GRCh38: Chr17:63477109	ACE		not provided	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 221377011.	NM_000789.4(ACE):c.20G>T (p.Arg7Leu) GRCh37: Chr17:61554475 GRCh38: Chr17:63477114	ACE	R7L	Inborn genetic diseases	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 89039112.	NM_000789.4(ACE):c.22C>T (p.Arg8Trp) GRCh37: Chr17:61554477 GRCh38: Chr17:63477116	ACE	R8W	not provided, Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Intracerebral hemorrhage, Microvascular complications of diabetes, susceptibility to, 3	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89039213.	NM_000789.4(ACE):c.25G>A (p.Gly9Arg) GRCh37: Chr17:61554480 GRCh38: Chr17:63477119	ACE	G9R	Renal tubular dysgenesis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87175814.	NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) GRCh37: Chr17:61554488-61554493 GRCh38: Chr17:63477127-63477132	ACE		Microvascular complications of diabetes, susceptibility to, 3, Renal tubular dysgenesis of genetic origin, Intracerebral hemorrhage, not provided	Pathogenic/Likely pathogenic (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121908615.	NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) GRCh37: Chr17:61554490-61554513 GRCh38: Chr17:63477129-63477152	ACE		not provided, Intracerebral hemorrhage, Microvascular complications of diabetes, susceptibility to, 3, Renal tubular dysgenesis of genetic origin	Pathogenic/Likely pathogenic (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32435816.	NM_000789.4(ACE):c.44CGCTGC[3] (p.15PL[3]) GRCh37: Chr17:61554493-61554494 GRCh38: Chr17:63477132-63477133	ACE		Renal tubular dysgenesis, not provided	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142873217.	NM_000789.4(ACE):c.44CGCTGC[1] (p.15PL[1]) GRCh37: Chr17:61554494-61554499 GRCh38: Chr17:63477133-63477138	ACE		not provided, Microvascular complications of diabetes, susceptibility to, 3, Intracerebral hemorrhage, Renal tubular dysgenesis of genetic origin	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32435918.	NM_000789.4(ACE):c.45G>C (p.Pro15=) GRCh37: Chr17:61554500 GRCh38: Chr17:63477139	ACE		Renal tubular dysgenesis, not provided	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 87175919.	NM_000789.4(ACE):c.58_63del (p.Leu21_Leu22del) GRCh37: Chr17:61554508-61554513 GRCh38: Chr17:63477147-63477152	ACE		not provided	Likely pathogenic (Mar 1, 2020)	criteria provided, single submitter
Select item 190044220.	NM_000789.4(ACE):c.67C>G (p.Pro23Ala) GRCh37: Chr17:61554522 GRCh38: Chr17:63477161	ACE	P23A	not provided	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 240192621.	NM_000789.4(ACE):c.74A>T (p.Gln25Leu) GRCh37: Chr17:61554529 GRCh38: Chr17:63477168	ACE	Q25L	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 191956422.	NM_000789.4(ACE):c.78C>T (p.Pro26_Ala27=) GRCh37: Chr17:61554533 GRCh38: Chr17:63477172	ACE		not provided	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 205943823.	NM_000789.4(ACE):c.80C>T (p.Ala27Val) GRCh37: Chr17:61554535 GRCh38: Chr17:63477174	ACE	A27V	not provided	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 193638524.	NM_000789.4(ACE):c.82C>T (p.Leu28_Ala29=) GRCh37: Chr17:61554537 GRCh38: Chr17:63477176	ACE		not provided	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 190792825.	NM_000789.4(ACE):c.132C>T (p.Ala44_Gly45=) GRCh37: Chr17:61554587 GRCh38: Chr17:63477226	ACE		not provided	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 89039326.	NM_000789.4(ACE):c.140A>G (p.Gln47Arg) GRCh37: Chr17:61554595 GRCh38: Chr17:63477234	ACE	Q47R	not provided, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Sep 8, 2022)	criteria provided, conflicting interpretations
Select item 32436027.	NM_000789.4(ACE):c.164C>T (p.Ser55Phe) GRCh37: Chr17:61554619 GRCh38: Chr17:63477258	ACE	S55F	Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32436128.	NM_000789.4(ACE):c.177G>A (p.Gln59=) GRCh37: Chr17:61554632 GRCh38: Chr17:63477271	ACE		Renal tubular dysgenesis, not provided, Renal tubular dysgenesis of genetic origin, Microvascular complications of diabetes, susceptibility to, 3, Intracerebral hemorrhage	Benign/Likely benign (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216879529.	NM_000789.4(ACE):c.189G>A (p.Gln63_Ser64=) GRCh37: Chr17:61554644 GRCh38: Chr17:63477283	ACE		not provided	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 142368930.	NM_000789.4(ACE):c.204C>G (p.Ser68Arg) GRCh37: Chr17:61554659 GRCh38: Chr17:63477298	ACE	S68R	not provided	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 105003631.	NM_000789.4(ACE):c.209C>T (p.Ala70Val) GRCh37: Chr17:61554664 GRCh38: Chr17:63477303	ACE	A70V	not provided	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 194262032.	NM_000789.4(ACE):c.213C>A (p.His71Gln) GRCh37: Chr17:61554668 GRCh38: Chr17:63477307	ACE	H71Q	not provided	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 89094733.	NM_000789.4(ACE):c.214G>T (p.Asp72Tyr) GRCh37: Chr17:61554669 GRCh38: Chr17:63477308	ACE	D72Y	Renal tubular dysgenesis	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 167036034.	NM_000789.4(ACE):c.231G>T (p.Ala77=) GRCh37: Chr17:61554686 GRCh38: Chr17:63477325	ACE		not provided	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 89094835.	NM_000789.4(ACE):c.231G>A (p.Ala77=) GRCh37: Chr17:61554686 GRCh38: Chr17:63477325	ACE		Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Intracerebral hemorrhage, Microvascular complications of diabetes, susceptibility to, 3, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194059336.	NM_000789.4(ACE):c.232G>T (p.Glu78Ter) GRCh37: Chr17:61554687 GRCh38: Chr17:63477326	ACE	E78*	not provided	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 89094937.	NM_000789.4(ACE):c.240A>G (p.Ala80=) GRCh37: Chr17:61554695 GRCh38: Chr17:63477334	ACE		not provided, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 190362338.	NM_000789.4(ACE):c.241A>G (p.Arg81Gly) GRCh37: Chr17:61554696 GRCh38: Chr17:63477335	ACE	R81G	not provided	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 163034439.	NM_000789.4(ACE):c.249+15C>G GRCh37: Chr17:61554719 GRCh38: Chr17:63477358	ACE		Microvascular complications of diabetes, susceptibility to, 3, Intracerebral hemorrhage, Renal tubular dysgenesis of genetic origin, not provided	Likely benign (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163034540.	NM_000789.4(ACE):c.249+16C>G GRCh37: Chr17:61554720 GRCh38: Chr17:63477359	ACE		Microvascular complications of diabetes, susceptibility to, 3, Intracerebral hemorrhage, Renal tubular dysgenesis of genetic origin, not provided	Likely benign (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129515741.	NM_000789.4(ACE):c.249+209G>C GRCh37: Chr17:61554913 GRCh38: Chr17:63477552	ACE		not provided	Benign (Jun 21, 2021)	criteria provided, single submitter
Select item 205047242.	NM_000789.4(ACE):c.250-18C>T GRCh37: Chr17:61555274 GRCh38: Chr17:63477913	ACE		not provided	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 89095043.	NM_000789.4(ACE):c.250-8C>T GRCh37: Chr17:61555284 GRCh38: Chr17:63477923	ACE		not provided, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 135992544.	NM_000789.4(ACE):c.253G>A (p.Glu85Lys) GRCh37: Chr17:61555295 GRCh38: Chr17:63477934	ACE	E85K	not provided	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 152308545.	NM_000789.4(ACE):c.325T>C (p.Trp109Arg) GRCh37: Chr17:61555367 GRCh38: Chr17:63478006	ACE	W109R	not provided	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 89095146.	NM_000789.4(ACE):c.344C>G (p.Pro115Arg) GRCh37: Chr17:61555386 GRCh38: Chr17:63478025	ACE	P115R	Renal tubular dysgenesis	Uncertain significance (Aug 8, 2017)	criteria provided, single submitter
Select item 89095247.	NM_000789.4(ACE):c.349C>T (p.Leu117=) GRCh37: Chr17:61555391 GRCh38: Chr17:63478030	ACE		not provided, Renal tubular dysgenesis	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 89218348.	NM_000789.4(ACE):c.353G>T (p.Arg118Leu) GRCh37: Chr17:61555395 GRCh38: Chr17:63478034	ACE	R118L	Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32436249.	NM_000789.4(ACE):c.383G>A (p.Gly128Asp) GRCh37: Chr17:61555425 GRCh38: Chr17:63478064	ACE	G128D	Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Microvascular complications of diabetes, susceptibility to, 3, Intracerebral hemorrhage	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 210820250.	NM_000789.4(ACE):c.407A>C (p.Lys136Thr) GRCh37: Chr17:61555449 GRCh38: Chr17:63478088	ACE	S58R, K136T	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 32436351.	NM_000789.4(ACE):c.411G>T (p.Arg137=) GRCh37: Chr17:61555453 GRCh38: Chr17:63478092	ACE		Renal tubular dysgenesis, not provided	Conflicting interpretations of pathogenicity (Aug 29, 2022)	criteria provided, conflicting interpretations
Select item 42403352.	NM_000789.4(ACE):c.412C>T (p.Gln138Ter) GRCh37: Chr17:61555454 GRCh38: Chr17:63478093	ACE	Q138*	not provided	Pathogenic (Mar 10, 2017)	criteria provided, single submitter
Select item 132841353.	NM_000789.4(ACE):c.417+5G>A GRCh37: Chr17:61555464 GRCh38: Chr17:63478103	ACE		Renal dysplasia, cystic, susceptibility to, Anhydramnios	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 32436454.	NM_000789.4(ACE):c.417+8G>A GRCh37: Chr17:61555467 GRCh38: Chr17:63478106	ACE		Renal tubular dysgenesis, not provided	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32436555.	NM_000789.4(ACE):c.417+13C>T GRCh37: Chr17:61555472 GRCh38: Chr17:63478111	ACE		Renal tubular dysgenesis, not provided	Conflicting interpretations of pathogenicity (Apr 20, 2022)	criteria provided, conflicting interpretations
Select item 126283556.	NM_000789.4(ACE):c.417+207G>A GRCh37: Chr17:61555666 GRCh38: Chr17:63478305	ACE		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 127399957.	NM_000789.4(ACE):c.418-70C>G GRCh37: Chr17:61556298 GRCh38: Chr17:63478937	ACE		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 89218458.	NM_000789.4(ACE):c.447G>C (p.Arg149Ser) GRCh37: Chr17:61556397 GRCh38: Chr17:63479036	ACE	R149S	Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Intracerebral hemorrhage, Microvascular complications of diabetes, susceptibility to, 3, not provided	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198421459.	NM_000789.4(ACE):c.456C>G (p.Ser152_Thr153=) GRCh37: Chr17:61556406 GRCh38: Chr17:63479045	ACE		not provided	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 89218560.	NM_000789.4(ACE):c.460G>A (p.Ala154Thr) GRCh37: Chr17:61556410 GRCh38: Chr17:63479049	ACE	A154T	Renal tubular dysgenesis, not provided	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89218661.	NM_000789.4(ACE):c.465G>C (p.Lys155Asn) GRCh37: Chr17:61556415 GRCh38: Chr17:63479054	ACE	K155N	Renal tubular dysgenesis, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204850962.	NM_000789.4(ACE):c.474C>T (p.Leu158_Pro159=) GRCh37: Chr17:61556424 GRCh38: Chr17:63479063	ACE		not provided	Benign (Aug 21, 2022)	criteria provided, single submitter
Select item 88874763.	NM_000789.4(ACE):c.477C>T (p.Pro159=) GRCh37: Chr17:61556427 GRCh38: Chr17:63479066	ACE		Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Intracerebral hemorrhage, Microvascular complications of diabetes, susceptibility to, 3	Likely benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88874864.	NM_000789.4(ACE):c.479A>G (p.Asn160Ser) GRCh37: Chr17:61556429 GRCh38: Chr17:63479068	ACE	N160S	Renal tubular dysgenesis, not provided	Benign (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192227865.	NM_000789.4(ACE):c.489C>T (p.Ala163_Thr164=) GRCh37: Chr17:61556439 GRCh38: Chr17:63479078	ACE		not provided	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 88874966.	NM_000789.4(ACE):c.503T>C (p.Leu168Pro) GRCh37: Chr17:61556453 GRCh38: Chr17:63479092	ACE	L168P	Renal tubular dysgenesis, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88875067.	NM_000789.4(ACE):c.507C>T (p.Asp169=) GRCh37: Chr17:61556457 GRCh38: Chr17:63479096	ACE		Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 166148668.	NM_000789.4(ACE):c.511+23_511+36del GRCh37: Chr17:61556480-61556493 GRCh38: Chr17:63479119-63479132	ACE		not provided	Benign (Aug 10, 2022)	criteria provided, single submitter
Select item 117838569.	NM_000789.4(ACE):c.511+66A>G GRCh37: Chr17:61556527 GRCh38: Chr17:63479166	ACE		Renal tubular dysgenesis, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 194196670.	NM_000789.4(ACE):c.512-19C>G GRCh37: Chr17:61557111 GRCh38: Chr17:63479750	ACE		not provided	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 190240471.	NM_000789.4(ACE):c.537G>A (p.Ser179_Arg180=) GRCh37: Chr17:61557155 GRCh38: Chr17:63479794	ACE		not provided	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 215529872.	NM_000789.4(ACE):c.539G>A (p.Arg180Gln) GRCh37: Chr17:61557157 GRCh38: Chr17:63479796	ACE	R180Q	not provided	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 71166073.	NM_000789.4(ACE):c.547G>A (p.Ala183Thr) GRCh37: Chr17:61557165 GRCh38: Chr17:63479804	ACE	A183T	not provided	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 32436674.	NM_000789.4(ACE):c.549C>G (p.Ala183=) GRCh37: Chr17:61557167 GRCh38: Chr17:63479806	ACE		Renal tubular dysgenesis, not provided	Conflicting interpretations of pathogenicity (Jul 9, 2022)	criteria provided, conflicting interpretations
Select item 25680975.	NM_000789.4(ACE):c.582C>T (p.Asn194=) GRCh37: Chr17:61557200 GRCh38: Chr17:63479839	ACE		Renal tubular dysgenesis, not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190626176.	NM_000789.4(ACE):c.583G>A (p.Ala195Thr) GRCh37: Chr17:61557201 GRCh38: Chr17:63479840	ACE	A195T	not provided	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 88875177.	NM_000789.4(ACE):c.590G>A (p.Gly197Asp) GRCh37: Chr17:61557208 GRCh38: Chr17:63479847	ACE	G197D	Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin, Intracerebral hemorrhage, Microvascular complications of diabetes, susceptibility to, 3	Uncertain significance (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166989178.	NM_000789.4(ACE):c.597G>T (p.Pro199=) GRCh37: Chr17:61557215 GRCh38: Chr17:63479854	ACE		not provided	Likely benign (Aug 6, 2021)	criteria provided, single submitter
Select item 212843479.	NM_000789.4(ACE):c.599T>C (p.Leu200Pro) GRCh37: Chr17:61557217 GRCh38: Chr17:63479856	ACE	L200P	not provided	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 154541080.	NM_000789.4(ACE):c.600G>A (p.Leu200=) GRCh37: Chr17:61557218 GRCh38: Chr17:63479857	ACE		not provided	Benign (Jul 21, 2022)	criteria provided, single submitter
Select item 204288481.	NM_000789.4(ACE):c.605C>T (p.Pro202Leu) GRCh37: Chr17:61557223 GRCh38: Chr17:63479862	ACE	P202L	not provided	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 218247382.	NM_000789.4(ACE):c.640G>A (p.Ala214Thr) GRCh37: Chr17:61557258 GRCh38: Chr17:63479897	ACE	A214T	not provided	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 219264583.	NM_000789.4(ACE):c.654C>T (p.Asp218_Gly219=) GRCh37: Chr17:61557272 GRCh38: Chr17:63479911	ACE		not provided	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 25681084.	NM_000789.4(ACE):c.655+13C>T GRCh37: Chr17:61557286 GRCh38: Chr17:63479925	ACE		Renal tubular dysgenesis, not specified, not provided	Benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211152485.	NM_000789.4(ACE):c.656-12C>T GRCh37: Chr17:61557686 GRCh38: Chr17:63480325	ACE		not provided	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 77720886.	NM_000789.4(ACE):c.656-9C>T GRCh37: Chr17:61557689 GRCh38: Chr17:63480328	ACE		Intracerebral hemorrhage, Renal tubular dysgenesis of genetic origin, Microvascular complications of diabetes, susceptibility to, 3, Renal tubular dysgenesis, not provided	Benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 225693687.	NM_000789.4(ACE):c.673G>T (p.Ala225Ser) GRCh37: Chr17:61557715 GRCh38: Chr17:63480354	ACE	A225S, G67V	Inborn genetic diseases	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 32436788.	NM_000789.4(ACE):c.682C>T (p.Arg228Cys) GRCh37: Chr17:61557724 GRCh38: Chr17:63480363	ACE	R228C	Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 236746789.	NM_000789.4(ACE):c.690G>T (p.Trp230Cys) GRCh37: Chr17:61557732 GRCh38: Chr17:63480371	ACE	W230C, V73L	Inborn genetic diseases	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 32436890.	NM_000789.4(ACE):c.714C>T (p.Asp238=) GRCh37: Chr17:61557756 GRCh38: Chr17:63480395	ACE		Renal tubular dysgenesis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 190624491.	NM_000789.4(ACE):c.729C>A (p.Leu243_Tyr244=) GRCh37: Chr17:61557771 GRCh38: Chr17:63480410	ACE	L86I	not provided	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 89045292.	NM_000789.4(ACE):c.731A>G (p.Tyr244Cys) GRCh37: Chr17:61557773 GRCh38: Chr17:63480412	ACE	Y244C	not provided, Renal tubular dysgenesis	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213215593.	NM_000789.4(ACE):c.753C>T (p.Tyr251_Leu252=) GRCh37: Chr17:61557795 GRCh38: Chr17:63480434	ACE	P94S	not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 89045394.	NM_000789.4(ACE):c.761T>C (p.Leu254Pro) GRCh37: Chr17:61557803 GRCh38: Chr17:63480442	ACE	L254P	Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 213165795.	NM_000789.4(ACE):c.773_774delinsAA (p.Val258Glu) GRCh37: Chr17:61557815-61557816 GRCh38: Chr17:63480454-63480455	ACE	P101T, V258E	not provided	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 89045496.	NM_000789.4(ACE):c.780C>T (p.Arg260=) GRCh37: Chr17:61557822 GRCh38: Chr17:63480461	ACE		not provided, Renal tubular dysgenesis	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32436997.	NM_000789.4(ACE):c.781G>T (p.Ala261Ser) GRCh37: Chr17:61557823 GRCh38: Chr17:63480462	ACE	A261S	Renal tubular dysgenesis, not provided	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1806398.	NM_000789.4(ACE):c.798C>G (p.Tyr266Ter) GRCh37: Chr17:61557840 GRCh38: Chr17:63480479	ACE	Y266*	Renal tubular dysgenesis	Pathogenic (Sep 1, 2005)	no assertion criteria provided
Select item 89045599.	NM_000789.4(ACE):c.799G>A (p.Gly267Arg) GRCh37: Chr17:61557841 GRCh38: Chr17:63480480	ACE	G267R	not provided, Renal tubular dysgenesis	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 432142100.	NM_000789.4(ACE):c.817C>T (p.Leu273Phe) GRCh37: Chr17:61557859 GRCh38: Chr17:63480498	ACE	L273F	not provided	Likely pathogenic (Apr 13, 2016)	criteria provided, single submitter

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