ClinVar for MedGen (Select 96569) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24441281.	NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly) GRCh37: Chr17:36070548 GRCh38: Chr17:37710540	HNF1B	D364G, D390G	Renal cysts and diabetes syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24421782.	NM_000458.4(HNF1B):c.395A>G (p.His132Arg) GRCh37: Chr17:36099580 GRCh38: Chr17:37739589	HNF1B	H132R	Renal cysts and diabetes syndrome	Uncertain significance (Jan 6, 2021)	criteria provided, single submitter
Select item 24127493.	NM_000458.4(HNF1B):c.935dup (p.Leu313fs) GRCh37: Chr17:36091695-36091696 GRCh38: Chr17:37731704-37731705	HNF1B	L287fs, L313fs	Renal cysts and diabetes syndrome	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 19923554.	NM_000458.4(HNF1B):c.280G>T (p.Glu94Ter) GRCh37: Chr17:36104596 GRCh38: Chr17:37744605	HNF1B	E94*	Renal cysts and diabetes syndrome	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 18063055.	NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr) GRCh37: Chr17:36099538 GRCh38: Chr17:37739547	HNF1B	N146T	Renal cysts and diabetes syndrome	Likely pathogenic (May 1, 2020)	criteria provided, single submitter
Select item 18059396.	NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu) GRCh37: Chr17:36093601 GRCh38: Chr17:37733608	HNF1B, LOC126862549	Q227L, Q253L	Renal cysts and diabetes syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 18049587.	NM_000458.4(HNF1B):c.479T>C (p.Met160Thr) GRCh37: Chr17:36099496 GRCh38: Chr17:37739505	HNF1B	M160T	Renal cysts and diabetes syndrome	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 17097148.	NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly) GRCh37: Chr17:36070566 GRCh38: Chr17:37710558	HNF1B	V358G, V384G	Renal cysts and diabetes syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 17069609.	NM_000458.4(HNF1B):c.344+2_344+5del GRCh37: Chr17:36104527-36104530 GRCh38: Chr17:37744536-37744539	HNF1B		not provided, Renal cysts and diabetes syndrome	Pathogenic (May 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 167622910.	NM_000458.4(HNF1B):c.628del (p.Ser210fs) GRCh37: Chr17:36093731 GRCh38: Chr17:37733738	HNF1B, LOC126862549	S184fs, S210fs	Renal cysts and diabetes syndrome	Pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153656111.	NM_000458.4(HNF1B):c.544+14T>A GRCh37: Chr17:36099417 GRCh38: Chr17:37739426	HNF1B		Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus, not provided	Benign/Likely benign (Feb 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153278512.	NM_000458.4(HNF1B):c.1534+10C>T GRCh37: Chr17:36060978 GRCh38: Chr17:37700973	HNF1B		not provided, Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus	Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151649713.	NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile) GRCh37: Chr17:36064958 GRCh38: Chr17:37704951	HNF1B	M435I, M409I	Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus, not provided	Uncertain significance (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145732814.	NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) GRCh37: Chr17:36093725 GRCh38: Chr17:37733732	HNF1B, LOC126862549	Q212, Q186	Type II diabetes mellitus, Nonpapillary renal cell carcinoma, Renal cysts and diabetes syndrome, not provided	Pathogenic/Likely pathogenic (Jul 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 136575215.	NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) GRCh37: Chr17:36070586-36070587 GRCh38: Chr17:37710578-37710579	HNF1B	S351fs, S377fs	Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus, not provided	Pathogenic/Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134465416.	NM_000458.4(HNF1B):c.1333_1334del (p.Ala445fs) GRCh37: Chr17:36064929-36064930 GRCh38: Chr17:37704922-37704923	HNF1B	A419fs, A445fs	Renal cysts and diabetes syndrome	Pathogenic (Feb 14, 2019)	no assertion criteria provided
Select item 134348317.	NM_000458.4(HNF1B):c.1534+11G>A GRCh37: Chr17:36060977 GRCh38: Chr17:37700972	HNF1B		Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus, not specified, not provided	Benign/Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133900518.	NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) GRCh37: Chr17:36091774 GRCh38: Chr17:37731783	HNF1B	L260P, L286P	Renal cysts and diabetes syndrome	Uncertain significance	criteria provided, single submitter
Select item 133750319.	NM_000458.4(HNF1B):c.831G>A (p.Gly277=) GRCh37: Chr17:36091800 GRCh38: Chr17:37731809	HNF1B		not specified, Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus, not provided	Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133731420.	NM_000458.4(HNF1B):c.658G>C (p.Asp220His) GRCh37: Chr17:36093701 GRCh38: Chr17:37733708	HNF1B, LOC126862549	D194H, D220H	not specified, Renal cysts and diabetes syndrome	Uncertain significance (Oct 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 133353221.	NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg) GRCh37: Chr17:36061132 GRCh38: Chr17:37701127	HNF1B	G438R, G464R	Renal cysts and diabetes syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 133350722.	NM_000458.4(HNF1B):c.1001C>T (p.Ser334Phe) GRCh37: Chr17:36091630 GRCh38: Chr17:37731639	HNF1B	S308F, S334F	Renal cysts and diabetes syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 125560223.	NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp) GRCh37: Chr17:36093605 GRCh38: Chr17:37733612	HNF1B, LOC126862549	R226W, R252W	Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 117290124.	NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) GRCh37: Chr17:36061132 GRCh38: Chr17:37701127	HNF1B	G438S, G464S	Type II diabetes mellitus, Nonpapillary renal cell carcinoma, Renal cysts and diabetes syndrome, not specified, not provided, Type II diabetes mellitus	Uncertain significance (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99614325.	NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val) GRCh37: Chr17:36061017 GRCh38: Chr17:37701012	HNF1B	A476V, A502V	Renal cysts and diabetes syndrome	Uncertain significance (Feb 9, 2021)	criteria provided, single submitter
Select item 99481626.	NM_000458.4(HNF1B):c.1207-18T>C GRCh37: Chr17:36065074 GRCh38: Chr17:37705067	HNF1B		Renal cysts and diabetes syndrome, Type II diabetes mellitus, Nonpapillary renal cell carcinoma, not specified, not provided, Maturity onset diabetes mellitus in young	Benign/Likely benign (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98242327.	NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter) GRCh37: Chr17:36104635 GRCh38: Chr17:37744644	HNF1B	E81*	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Pathogenic (Jul 31, 2020)	criteria provided, multiple submitters, no conflicts
Select item 97913828.	NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) GRCh37: Chr17:36104719 GRCh38: Chr17:37744728	HNF1B	G53W	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Conflicting interpretations of pathogenicity (Aug 1, 2016)	criteria provided, conflicting interpretations
Select item 97908029.	NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) GRCh37: Chr17:36064981 GRCh38: Chr17:37704974	HNF1B	Q402, Q428	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Pathogenic/Likely pathogenic (Oct 15, 2018)	criteria provided, multiple submitters, no conflicts
Select item 97605330.	NM_000458.4(HNF1B):c.908G>A (p.Arg303His) GRCh37: Chr17:36091723 GRCh38: Chr17:37731732	HNF1B	R277H, R303H	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Conflicting interpretations of pathogenicity (Oct 9, 2018)	criteria provided, conflicting interpretations
Select item 97508531.	NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter) GRCh37: Chr17:36099494 GRCh38: Chr17:37739503	HNF1B	K161*	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Pathogenic (Jan 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 97506632.	NM_000458.4(HNF1B):c.187del (p.His63fs) GRCh37: Chr17:36104689 GRCh38: Chr17:37744698	HNF1B	H63fs	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Pathogenic (Feb 14, 2019)	criteria provided, multiple submitters, no conflicts
Select item 97506333.	NM_000458.4(HNF1B):c.61dup (p.Val21fs) GRCh37: Chr17:36104814-36104815 GRCh38: Chr17:37744823-37744824	HNF1B	V21fs	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Pathogenic/Likely pathogenic (Jan 3, 2019)	criteria provided, multiple submitters, no conflicts
Select item 97455534.	NM_000458.4:c.(?_-1)_(544+1_545-1)del	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97455435.	NM_000458.4:c.(?_-1)_(*1_?)del	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97452436.	NM_000458.4:c.810_1045del	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97452337.	NM_000458.4(HNF1B):c.1340-3C>G GRCh37: Chr17:36061185 GRCh38: Chr17:37701180	HNF1B		Renal cysts and diabetes syndrome	Likely pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97438938.	NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly) GRCh37: Chr17:36091721 GRCh38: Chr17:37731730	HNF1B	R278G, R304G	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Likely pathogenic/Likely risk allele (Feb 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 97438839.	NM_000458.4(HNF1B):c.495_496del (p.Ala166fs) GRCh37: Chr17:36099479-36099480 GRCh38: Chr17:37739488-37739489	HNF1B	A166fs	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Pathogenic (Feb 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 97275040.	NM_000458.4(HNF1B):c.660T>C (p.Asp220=) GRCh37: Chr17:36093699 GRCh38: Chr17:37733706	HNF1B, LOC126862549		Maturity onset diabetes mellitus in young, not specified, not provided, Nonpapillary renal cell carcinoma, Renal cysts and diabetes syndrome, Type II diabetes mellitus	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 89208241.	NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr) GRCh37: Chr17:36104608 GRCh38: Chr17:37744617	HNF1B	P90T	Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 89208142.	NM_000458.4(HNF1B):c.309G>C (p.Ala103=) GRCh37: Chr17:36104567 GRCh38: Chr17:37744576	HNF1B		Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89208043.	NM_000458.4(HNF1B):c.438C>T (p.Asn146=) GRCh37: Chr17:36099537 GRCh38: Chr17:37739546	HNF1B		Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89203544.	NM_000458.4(HNF1B):c.*625C>T GRCh37: Chr17:36046750 GRCh38: Chr17:37686747	HNF1B		Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 89203445.	NM_000458.4(HNF1B):c.*629C>T GRCh37: Chr17:36046746 GRCh38: Chr17:37686743	HNF1B		Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89203346.	NM_000458.4(HNF1B):c.*659G>A GRCh37: Chr17:36046716 GRCh38: Chr17:37686713	HNF1B		Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 89083847.	NM_000458.4(HNF1B):c.477T>C (p.Pro159=) GRCh37: Chr17:36099498 GRCh38: Chr17:37739507	HNF1B		Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 89083748.	NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp) GRCh37: Chr17:36091703 GRCh38: Chr17:37731712	HNF1B	R284W, R310W	not provided, Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Oct 25, 2021)	criteria provided, conflicting interpretations
Select item 89027349.	NM_000458.4(HNF1B):c.1654-11T>C GRCh37: Chr17:36047406 GRCh38: Chr17:37687403	HNF1B		not provided, Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 88862250.	NM_000458.4(HNF1B):c.9C>T (p.Ser3=) GRCh37: Chr17:36104867 GRCh38: Chr17:37744876	HNF1B		not provided, Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (May 12, 2022)	criteria provided, conflicting interpretations
Select item 88862151.	NM_000458.4(HNF1B):c.150T>G (p.Pro50=) GRCh37: Chr17:36104726 GRCh38: Chr17:37744735	HNF1B		Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 88857052.	NM_000458.4(HNF1B):c.*409A>G GRCh37: Chr17:36046966 GRCh38: Chr17:37686963	HNF1B		Renal cysts and diabetes syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87305853.	NM_001308093.3(GATA4):c.623T>A (p.Met208Lys) GRCh37: Chr8:11606431 GRCh38: Chr8:11748922	GATA4	M208K, M207K, M1K	Atrioventricular septal defect 4, Renal cysts and diabetes syndrome	Uncertain significance (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81392254.	NM_000458.4(HNF1B):c.1258dup (p.His420fs) GRCh37: Chr17:36065004-36065005 GRCh38: Chr17:37704997-37704998	HNF1B	H394fs, H420fs	Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Pathogenic/Likely pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80563955.	NM_000458.4(HNF1B):c.578T>C (p.Met193Thr) GRCh37: Chr17:36093781 GRCh38: Chr17:37733788	HNF1B, LOC126862549	M193T	not specified, Nonpapillary renal cell carcinoma, Type II diabetes mellitus, Renal cysts and diabetes syndrome, not provided	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80563856.	NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) GRCh37: Chr17:36104562 GRCh38: Chr17:37744571	HNF1B	E105G	Nonpapillary renal cell carcinoma, Type II diabetes mellitus, Renal cysts and diabetes syndrome, not provided	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69216157.	NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter) GRCh37: Chr17:36091735 GRCh38: Chr17:37731744	HNF1B	W273, W299	Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Pathogenic/Likely pathogenic (Jul 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 63575258.	NM_000458.3:c.1_809del	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63575159.	NM_000458.3:c.1_1045del	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63575060.	NM_000458.3:c.1046_*941del	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63574961.	NM_000458.3:c.545_1045del	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63574862.	NM_000458.3:c.1046_1674del	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63573763.	NM_000458.4(HNF1B):c.715_717del (p.Gly239del) GRCh37: Chr17:36093642-36093644 GRCh38: Chr17:37733649-37733651	LOC126862549, HNF1B	G213del, G239del	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63573664.	NM_000458.4(HNF1B):c.3G>A (p.Met1Ile) GRCh37: Chr17:36104873 GRCh38: Chr17:37744882	HNF1B	M1I	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63573565.	NM_000458.4(HNF1B):c.3G>T (p.Met1Ile) GRCh37: Chr17:36104873 GRCh38: Chr17:37744882	HNF1B	M1I	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63573466.	NM_000458.4(HNF1B):c.18del (p.Ser7fs) GRCh37: Chr17:36104858 GRCh38: Chr17:37744867	HNF1B	S7fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63573367.	NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe) GRCh37: Chr17:36104842 GRCh38: Chr17:37744851	HNF1B	L12F	Renal cysts and diabetes syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 14, 2023)	criteria provided, conflicting interpretations
Select item 63573268.	NM_000458.4(HNF1B):c.70del (p.Glu24fs) GRCh37: Chr17:36104806 GRCh38: Chr17:37744815	HNF1B	E24fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63573169.	NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe) GRCh37: Chr17:36104769 GRCh38: Chr17:37744778	HNF1B	S36F	Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus, Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 63573070.	NM_000458.4(HNF1B):c.110dup (p.Asn38fs) GRCh37: Chr17:36104765-36104766 GRCh38: Chr17:37744774-37744775	HNF1B	N38fs	Maturity onset diabetes mellitus in young, Renal cysts and diabetes syndrome	Pathogenic/Likely pathogenic (Jul 6, 2019)	criteria provided, multiple submitters, no conflicts
Select item 63572971.	NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys) GRCh37: Chr17:36104746 GRCh38: Chr17:37744755	HNF1B	E44K	Renal cysts and diabetes syndrome	Uncertain significance (Jul 6, 2019)	criteria provided, single submitter
Select item 63572872.	NM_000458.4(HNF1B):c.206_207del (p.His69fs) GRCh37: Chr17:36104669-36104670 GRCh38: Chr17:37744678-37744679	HNF1B	H69fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63572773.	NM_000458.4(HNF1B):c.143del (p.Leu48fs) GRCh37: Chr17:36104733 GRCh38: Chr17:37744742	HNF1B	L48fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63572674.	NM_000458.4(HNF1B):c.207_211del (p.His69fs) GRCh37: Chr17:36104665-36104669 GRCh38: Chr17:37744674-37744678	HNF1B	H69fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63572575.	NM_000458.4(HNF1B):c.211_217del (p.Lys71fs) GRCh37: Chr17:36104659-36104665 GRCh38: Chr17:37744668-37744674	HNF1B	K71fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63572476.	NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) GRCh37: Chr17:36104644 GRCh38: Chr17:37744653	HNF1B	E78*	Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type II diabetes mellitus, Renal cysts and diabetes syndrome	Pathogenic (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63572377.	NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp) GRCh37: Chr17:36104642 GRCh38: Chr17:37744651	HNF1B	E78D	Renal cysts and diabetes syndrome	Likely pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63572278.	NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp) GRCh37: Chr17:36104628 GRCh38: Chr17:37744637	HNF1B	G83D	Renal cysts and diabetes syndrome	Likely pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63572179.	NM_000458.4(HNF1B):c.252del (p.Asp84fs) GRCh37: Chr17:36104624 GRCh38: Chr17:37744633	HNF1B	D84fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63572080.	NM_000458.4(HNF1B):c.280del (p.Glu94fs) GRCh37: Chr17:36104596 GRCh38: Chr17:37744605	HNF1B	E94fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571981.	NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs) GRCh37: Chr17:36104591-36104592 GRCh38: Chr17:37744600-37744601	HNF1B	Q96fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571882.	NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe) GRCh37: Chr17:36104602 GRCh38: Chr17:37744611	HNF1B	L92F	Renal cysts and diabetes syndrome	Likely pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571783.	NM_000458.4(HNF1B):c.322del (p.Ala108fs) GRCh37: Chr17:36104554 GRCh38: Chr17:37744563	HNF1B	A108fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571684.	NM_000458.4(HNF1B):c.329T>G (p.Val110Gly) GRCh37: Chr17:36104547 GRCh38: Chr17:37744556	HNF1B	V110G	Renal cysts and diabetes syndrome	Likely pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571585.	NM_000458.4(HNF1B):c.335G>C (p.Arg112Pro) GRCh37: Chr17:36104541 GRCh38: Chr17:37744550	HNF1B	R112P	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571486.	NM_000458.4(HNF1B):c.324_340del (p.Glu109fs) GRCh37: Chr17:36104536-36104552 GRCh38: Chr17:37744545-37744561	HNF1B	E109fs	Renal cysts and diabetes syndrome, Maturity onset diabetes mellitus in young	Pathogenic (Jul 6, 2019)	criteria provided, multiple submitters, no conflicts
Select item 63571387.	NM_000458.4(HNF1B):c.335_342del (p.Arg112fs) GRCh37: Chr17:36104534-36104541 GRCh38: Chr17:37744543-37744550	HNF1B	R112fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571288.	NM_000458.4(HNF1B):c.344+2T>C GRCh37: Chr17:36104530 GRCh38: Chr17:37744539	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571189.	NM_000458.4(HNF1B):c.345-1G>A GRCh37: Chr17:36099631 GRCh38: Chr17:37739640	HNF1B		Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63571090.	NM_000458.4(HNF1B):c.353del (p.Pro118fs) GRCh37: Chr17:36099622 GRCh38: Chr17:37739631	HNF1B	P118fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570991.	NM_000458.4(HNF1B):c.356G>A (p.Trp119Ter) GRCh37: Chr17:36099619 GRCh38: Chr17:37739628	HNF1B	W119*	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570892.	NM_000458.4(HNF1B):c.372G>T (p.Met124Ile) GRCh37: Chr17:36099603 GRCh38: Chr17:37739612	HNF1B	M124I	Renal cysts and diabetes syndrome	Likely pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570793.	NM_000458.4(HNF1B):c.374T>C (p.Ile125Thr) GRCh37: Chr17:36099601 GRCh38: Chr17:37739610	HNF1B	I125T	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570694.	NM_000458.4(HNF1B):c.391C>T (p.Gln131Ter) GRCh37: Chr17:36099584 GRCh38: Chr17:37739593	HNF1B	Q131*	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570595.	NM_000458.4(HNF1B):c.386_392del (p.Met129fs) GRCh37: Chr17:36099583-36099589 GRCh38: Chr17:37739592-37739598	HNF1B	M129fs	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570496.	NM_000458.4(HNF1B):c.395A>C (p.His132Pro) GRCh37: Chr17:36099580 GRCh38: Chr17:37739589	HNF1B	H132P	Renal cysts and diabetes syndrome	Likely pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570397.	NM_000458.4(HNF1B):c.398A>G (p.Asn133Ser) GRCh37: Chr17:36099577 GRCh38: Chr17:37739586	HNF1B	N133S	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570298.	NM_000458.4(HNF1B):c.406C>G (p.Gln136Glu) GRCh37: Chr17:36099569 GRCh38: Chr17:37739578	HNF1B	Q136E	Renal cysts and diabetes syndrome	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 63570199.	NM_000458.4(HNF1B):c.406C>T (p.Gln136Ter) GRCh37: Chr17:36099569 GRCh38: Chr17:37739578	HNF1B	Q136*	not provided, Renal cysts and diabetes syndrome	Pathogenic (Mar 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 635700100.	NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln) GRCh37: Chr17:36099541 GRCh38: Chr17:37739550	HNF1B	L145Q	Renal cysts and diabetes syndrome	Likely pathogenic (Jul 6, 2019)	criteria provided, single submitter

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