"PreventionGenetics, part of Exact Sciences"[submitter] AND "HNF1B"[ge - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631463	NM_000458.4(HNF1B):c.*67G>A	HNF1B (G450D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNF1B-related disorder	GUncertain significance
Select item 3045344	NM_000458.4(HNF1B):c.*56T>C	HNF1B	Single nucleotide variant (3 prime UTR variant +1 more)	HNF1B-related disorder	GLikely benign
Select item 1297600	NM_000458.4(HNF1B):c.*22G>A	HNF1B (R435H)	Single nucleotide variant (3 prime UTR variant +1 more)	HNF1B-related disorder	GUncertain significance
Select item 3061308	NM_000458.4(HNF1B):c.*18C>T	HNF1B (L434F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNF1B-related disorder	GUncertain significance
Select item 499805	NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)	HNF1B (L426M)	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 499802	NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)	HNF1B (P553T +2 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +4 more	GUncertain significance
Select item 3035602	NM_000458.4(HNF1B):c.1654-9del	HNF1B	Deletion (intron variant)	HNF1B-related disorder	GLikely benign
Select item 1315884	NM_000458.4(HNF1B):c.1637T>C (p.Met546Thr)	HNF1B (M520T +1 more)	Single nucleotide variant (missense variant +1 more)	HNF1B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3061557	NM_000458.4(HNF1B):c.1635C>T (p.Asn545=)	HNF1B	Single nucleotide variant (synonymous variant +1 more)	HNF1B-related disorder	GLikely benign
Select item 594386	NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)	HNF1B (M532V +1 more)	Single nucleotide variant (missense variant +1 more)	HNF1B-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 501505	NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)	HNF1B	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 3058912	NM_000458.4(HNF1B):c.1543C>T (p.His515Tyr)	HNF1B (H489Y +1 more)	Single nucleotide variant (missense variant +1 more)	HNF1B-related disorder	GUncertain significance
Select item 500489	NM_000458.4(HNF1B):c.1488C>T (p.Ala496=)	HNF1B	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 36841	NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)	HNF1B	Single nucleotide variant (synonymous variant +1 more)	Nonpapillary renal cell carcinoma +5 more	GBenign/Likely benign
Select item 2630173	NM_000458.4(HNF1B):c.1354C>T (p.Gln452Ter)	HNF1B (Q426* +1 more)	Single nucleotide variant (nonsense +1 more)	HNF1B-related disorder	GLikely pathogenic
Select item 3032587	NM_000458.4(HNF1B):c.1339+10del	HNF1B	Deletion (intron variant)	HNF1B-related disorder	GLikely benign
Select item 3052030	NM_000458.4(HNF1B):c.1251G>A (p.Thr417=)	HNF1B	Single nucleotide variant (synonymous variant)	HNF1B-related disorder	GLikely benign
Select item 2631430	NM_000458.4(HNF1B):c.1237del (p.Val413fs)	HNF1B (V387fs +1 more)	Deletion (frameshift variant)	HNF1B-related disorder	GLikely pathogenic
Select item 447509	NM_000458.4(HNF1B):c.1207-7C>T	HNF1B	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1744012	NM_000458.4(HNF1B):c.1188C>T (p.Leu396=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 379811	NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)	HNF1B (G370S +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2766537	NM_000458.4(HNF1B):c.1046-11T>G	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3053481	NM_000458.4(HNF1B):c.1045+6C>T	HNF1B	Single nucleotide variant (intron variant)	HNF1B-related disorder	GLikely benign
Select item 3030521	NM_000458.4(HNF1B):c.1033A>G (p.Asn345Asp)	HNF1B (N319D +1 more)	Single nucleotide variant (missense variant)	HNF1B-related disorder	GUncertain significance
Select item 36837	NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)	HNF1B (H336Y +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3029407	NM_000458.4(HNF1B):c.1005C>G (p.Pro335=)	HNF1B	Single nucleotide variant (synonymous variant)	HNF1B-related disorder	GLikely benign
Select item 2632520	NM_000458.4(HNF1B):c.908G>T (p.Arg303Leu)	HNF1B (R277L +1 more)	Single nucleotide variant (missense variant)	HNF1B-related disorder	GUncertain significance
Select item 3029422	NM_000458.4(HNF1B):c.906C>T (p.Asn302=)	HNF1B	Single nucleotide variant (synonymous variant)	HNF1B-related disorder	GLikely benign
Select item 635627	NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)	HNF1B (N302D +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GLikely pathogenic
Select item 635640	NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)	HNF1B (R276G +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3033076	NM_000458.4(HNF1B):c.810-7T>A	HNF1B	Single nucleotide variant (intron variant)	HNF1B-related disorder	GLikely benign
Select item 256210	NM_000458.4(HNF1B):c.810-17C>T	HNF1B	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3052177	NM_000458.4(HNF1B):c.809+10C>A	HNF1B, LOC126862549	Single nucleotide variant (intron variant)	HNF1B-related disorder	GLikely benign
Select item 3061133	NM_000458.4(HNF1B):c.785_786del (p.Glu262fs)	HNF1B, LOC126862549 (E236fs +1 more)	Microsatellite (frameshift variant)	HNF1B-related disorder	GPathogenic
Select item 598272	NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)	HNF1B, LOC126862549 (E260D +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +4 more	GConflicting classifications of pathogenicity
Select item 36853	NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 514068	NM_000458.4(HNF1B):c.723G>A (p.Ala241=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GBenign/Likely benign
Select item 2047875	NM_000458.4(HNF1B):c.722C>T (p.Ala241Val)	HNF1B, LOC126862549 (A241V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 668656	NM_000458.4(HNF1B):c.699C>T (p.Arg233=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GLikely benign
Select item 256209	NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)	HNF1B, LOC126862549 (N228K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2636815	NM_000458.4(HNF1B):c.677C>A (p.Pro226His)	HNF1B, LOC126862549 (P200H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073239	NM_000458.4(HNF1B):c.660T>A (p.Asp220Glu)	HNF1B, LOC126862549 (D194E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 972750	NM_000458.4(HNF1B):c.660T>C (p.Asp220=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 500466	NM_000458.4(HNF1B):c.657C>G (p.Ser219=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12644	NM_000458.4(HNF1B):c.544+1G>T	HNF1B	Single nucleotide variant (splice donor variant)	Renal cysts and diabetes syndrome +2 more	GPathogenic
Select item 2989441	NM_000458.4(HNF1B):c.498C>T (p.Ala166=)	HNF1B	Single nucleotide variant (synonymous variant)	HNF1B-related disorder +1 more	GLikely benign
Select item 635684	NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)	HNF1B (R165C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3057177	NM_000458.4(HNF1B):c.447C>T (p.His149=)	HNF1B	Single nucleotide variant (synonymous variant)	HNF1B-related disorder	GLikely benign
Select item 502534	NM_000458.4(HNF1B):c.420C>T (p.Val140=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 1928954	NM_000458.4(HNF1B):c.332A>G (p.Asp111Gly)	HNF1B (D111G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805638	NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)	HNF1B (E105G)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +4 more	GUncertain significance
Select item 597812	NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)	HNF1B (E105K)	Single nucleotide variant (missense variant)	HNF1B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 193101	NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)	HNF1B (D82N)	Single nucleotide variant (missense variant)	Monogenic diabetes +5 more	GConflicting classifications of pathogenicity
Select item 193102	NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)	HNF1B (G76C)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 3044149	NM_000458.4(HNF1B):c.225C>T (p.Ser75=)	HNF1B	Single nucleotide variant (synonymous variant)	HNF1B-related disorder	GLikely benign
Select item 2720619	NM_000458.4(HNF1B):c.195C>T (p.Leu65=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3028955	NM_000458.4(HNF1B):c.163G>A (p.Glu55Lys)	HNF1B (E55K)	Single nucleotide variant (missense variant)	HNF1B-related disorder	GUncertain significance
Select item 3032773	NM_000458.4(HNF1B):c.119G>A (p.Gly40Glu)	HNF1B (G40E)	Single nucleotide variant (missense variant)	HNF1B-related disorder	GUncertain significance
Select item 322948	NM_000458.4(HNF1B):c.36C>T (p.Leu12=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 3031212	NM_000458.4(HNF1B):c.-9C>T	HNF1B	Single nucleotide variant (5 prime UTR variant)	HNF1B-related disorder	GLikely benign
Select item 3029616	NM_000458.4(HNF1B):c.-23C>T	HNF1B	Single nucleotide variant (5 prime UTR variant)	HNF1B-related disorder	GLikely benign
Select item 3044135	NM_000458.4(HNF1B):c.-39A>C	HNF1B	Single nucleotide variant (5 prime UTR variant)	HNF1B-related disorder	GLikely benign

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Items: 63