ClinVar for MedGen (Select 96569) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067872	NM_000458.4(HNF1B):c.953A>G (p.Tyr318Cys)	HNF1B (Y292C +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 3066361	NM_000458.4(HNF1B):c.1205T>C (p.Met402Thr)	HNF1B (M376T +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 3066322	NM_000458.4(HNF1B):c.895T>C (p.Trp299Arg)	HNF1B (W273R +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 3066168	NM_000458.4(HNF1B):c.668G>T (p.Cys223Phe)	HNF1B, LOC126862549 (C197F +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 3066113	NM_000458.4(HNF1B):c.461T>G (p.Leu154Arg)	HNF1B (L154R)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 3065977	NM_000458.4(HNF1B):c.1167_1186del (p.Asp390fs)	HNF1B (D364fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 3061871	NM_000458.4(HNF1B):c.480G>A (p.Met160Ile)	HNF1B (M160I)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 2687775	NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)	HNF1B (H453R +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 2674593	NM_000458.4(HNF1B):c.215del (p.Gly72fs)	HNF1B (G72fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 2663885	NM_000458.4(HNF1B):c.345-2A>G	HNF1B	Single nucleotide variant (splice acceptor variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 2584387	NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)	HNF1B (S148*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2582407	NM_000458.4(HNF1B):c.515del (p.Tyr172fs)	HNF1B (Y172fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 2444128	NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly)	HNF1B (D364G +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 2442178	NM_000458.4(HNF1B):c.395A>G (p.His132Arg)	HNF1B (H132R)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 2412749	NM_000458.4(HNF1B):c.935dup (p.Leu313fs)	HNF1B (L287fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 2231273	NM_000458.4(HNF1B):c.907C>T (p.Arg303Cys)	HNF1B (R277C +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +2 more	GUncertain significance
Select item 1992355	NM_000458.4(HNF1B):c.280G>T (p.Glu94Ter)	HNF1B (E94*)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome	GPathogenic
Select item 1806305	NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr)	HNF1B (N146T)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 1805939	NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)	HNF1B, LOC126862549 (Q227L +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 1804958	NM_000458.4(HNF1B):c.479T>C (p.Met160Thr)	HNF1B (M160T)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 1709714	NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)	HNF1B (V358G +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 1706960	NM_000458.4(HNF1B):c.344+2_344+5del	HNF1B	Deletion (splice donor variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 1676229	NM_000458.4(HNF1B):c.628del (p.Ser210fs)	HNF1B, LOC126862549 (S184fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 1536561	NM_000458.4(HNF1B):c.544+14T>A	HNF1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1532785	NM_000458.4(HNF1B):c.1534+10C>T	HNF1B	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1516497	NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)	HNF1B (M435I +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +3 more	GUncertain significance
Select item 1457328	NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)	LOC126862549, HNF1B (Q212* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1365752	NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)	HNF1B (S351fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1344654	NM_000458.4(HNF1B):c.1333_1334del (p.Ala445fs)	HNF1B (A419fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 1343483	NM_000458.4(HNF1B):c.1534+11G>A	HNF1B	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1339005	NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)	HNF1B (L260P +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 1337503	NM_000458.4(HNF1B):c.831G>A (p.Gly277=)	HNF1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1337314	NM_000458.4(HNF1B):c.658G>C (p.Asp220His)	HNF1B, LOC126862549 (D194H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1333532	NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg)	HNF1B (G438R +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 1333507	NM_000458.4(HNF1B):c.1001C>T (p.Ser334Phe)	HNF1B (S308F +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 1255602	NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)	HNF1B, LOC126862549 (R226W +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 1172901	NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)	HNF1B (G438S +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome +4 more	GUncertain significance
Select item 996143	NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val)	HNF1B (A476V +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 994816	NM_000458.4(HNF1B):c.1207-18T>C	HNF1B	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +5 more	GBenign/Likely benign
Select item 982423	NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter)	HNF1B (E81*)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 979138	NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)	HNF1B (G53W)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 979080	NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter)	HNF1B (Q402* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 976053	NM_000458.4(HNF1B):c.908G>A (p.Arg303His)	HNF1B (R277H +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 975085	NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter)	HNF1B (K161*)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 975066	NM_000458.4(HNF1B):c.187del (p.His63fs)	HNF1B (H63fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 975063	NM_000458.4(HNF1B):c.61dup (p.Val21fs)	HNF1B (V21fs)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 974555	NM_000458.4:c.(?_-1)_(544+1_545-1)del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 974554	NM_000458.4:c.(?_-1)_(*1_?)del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 974524	NM_000458.4:c.810_1045del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 974523	NM_000458.4(HNF1B):c.1340-3C>G	HNF1B	Single nucleotide variant (intron variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 974389	NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly)	HNF1B (R278G +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GLikely pathogenic/Likely risk allele
Select item 974388	NM_000458.4(HNF1B):c.495_496del (p.Ala166fs)	HNF1B (A166fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 972750	NM_000458.4(HNF1B):c.660T>C (p.Asp220=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 892082	NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr)	HNF1B (P90T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 892081	NM_000458.4(HNF1B):c.309G>C (p.Ala103=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 892080	NM_000458.4(HNF1B):c.438C>T (p.Asn146=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 892035	NM_000458.4(HNF1B):c.*625C>T	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 892034	NM_000458.4(HNF1B):c.*629C>T	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 892033	NM_000458.4(HNF1B):c.*659G>A	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GBenign/Likely benign
Select item 890838	NM_000458.4(HNF1B):c.477T>C (p.Pro159=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 890837	NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp)	HNF1B (R284W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 890273	NM_000458.4(HNF1B):c.1654-11T>C	HNF1B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888622	NM_000458.4(HNF1B):c.9C>T (p.Ser3=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888621	NM_000458.4(HNF1B):c.150T>G (p.Pro50=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 888570	NM_000458.4(HNF1B):c.*409A>G	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 873058	NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)	GATA4 (M208K +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 813922	NM_000458.4(HNF1B):c.1258dup (p.His420fs)	HNF1B (H394fs +1 more)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 805639	NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)	HNF1B, LOC126862549 (M193T)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 805638	NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)	HNF1B (E105G)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +4 more	GUncertain significance
Select item 692161	NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter)	HNF1B (W273* +1 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 635752	NM_000458.3:c.1_809del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 635751	NM_000458.3:c.1_1045del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 635750	NM_000458.3:c.1046_*941del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 635749	NM_000458.3:c.545_1045del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 635748	NM_000458.3:c.1046_1674del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 635737	NM_000458.4(HNF1B):c.715_717del (p.Gly239del)	LOC126862549, HNF1B (G213del +1 more)	Deletion (inframe_deletion)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635736	NM_000458.4(HNF1B):c.3G>A (p.Met1Ile)	HNF1B (M1I)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635735	NM_000458.4(HNF1B):c.3G>T (p.Met1Ile)	HNF1B (M1I)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635734	NM_000458.4(HNF1B):c.18del (p.Ser7fs)	HNF1B (S7fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635733	NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)	HNF1B (L12F)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 635732	NM_000458.4(HNF1B):c.70del (p.Glu24fs)	HNF1B (E24fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635731	NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)	HNF1B (S36F)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 635730	NM_000458.4(HNF1B):c.110dup (p.Asn38fs)	HNF1B (N38fs)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 635729	NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys)	HNF1B (E44K)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 635728	NM_000458.4(HNF1B):c.206_207del (p.His69fs)	HNF1B (H69fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635727	NM_000458.4(HNF1B):c.143del (p.Leu48fs)	HNF1B (L48fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635726	NM_000458.4(HNF1B):c.207_211del (p.His69fs)	HNF1B (H69fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635725	NM_000458.4(HNF1B):c.211_217del (p.Lys71fs)	HNF1B (K71fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635724	NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)	HNF1B (E78*)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus +2 more	GPathogenic
Select item 635723	NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)	HNF1B (E78D)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635722	NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)	HNF1B (G83D)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635721	NM_000458.4(HNF1B):c.252del (p.Asp84fs)	HNF1B (D84fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635720	NM_000458.4(HNF1B):c.280del (p.Glu94fs)	HNF1B (E94fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635719	NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs)	HNF1B (Q96fs)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635718	NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)	HNF1B (L92F)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635717	NM_000458.4(HNF1B):c.322del (p.Ala108fs)	HNF1B (A108fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635716	NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)	HNF1B (V110G)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635715	NM_000458.4(HNF1B):c.335G>C (p.Arg112Pro)	HNF1B (R112P)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635714	NM_000458.4(HNF1B):c.324_340del (p.Glu109fs)	HNF1B (E109fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 635713	NM_000458.4(HNF1B):c.335_342del (p.Arg112fs)	HNF1B (R112fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic

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