"GeneDx"[submitter] AND "HNF1B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58695	GRCh37/hg19 17q12(chr17:35958761-36224189)x3	DDX52, HNF1B +7 more	Copy number gain	See cases	GPathogenic
Select item 322939	NM_000458.4(HNF1B):c.*274=	HNF1B	Single nucleotide variant (no sequence alteration)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 322940	NM_000458.4(HNF1B):c.*100=	HNF1B	Single nucleotide variant (no sequence alteration)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 322941	NM_000458.4(HNF1B):c.*99C>A	HNF1B	Single nucleotide variant (3 prime UTR variant)	Renal cysts and diabetes syndrome +1 more	GBenign
Select item 322943	NM_000458.4(HNF1B):c.*47T>G	HNF1B (F443L)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal cysts and diabetes syndrome +2 more	GBenign
Select item 499802	NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)	HNF1B (P553T +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 322944	NM_000458.4(HNF1B):c.1654-14CT[4]	HNF1B	Microsatellite (intron variant)	Renal cysts and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 36843	NM_000458.4(HNF1B):c.1654-22=	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 676394	NM_000458.4(HNF1B):c.1654-106C>T	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 1296943	NM_000458.4(HNF1B):c.1653+268C>T	HNF1B, LOC126862547	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292698	NM_000458.4(HNF1B):c.1653+164del	HNF1B, LOC126862547	Deletion (intron variant)	not provided	GBenign
Select item 1181903	NM_000458.4(HNF1B):c.1653+102G>A	HNF1B, LOC126862547	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225876	NM_000458.4(HNF1B):c.1653+89G>A	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292623	NM_000458.4(HNF1B):c.1653+47_1653+48insC	HNF1B	Insertion (intron variant)	not provided	GBenign
Select item 1315884	NM_000458.4(HNF1B):c.1637T>C (p.Met546Thr)	HNF1B (M520T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392411	NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)	HNF1B (Q521* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1186308	NM_000458.4(HNF1B):c.1535-44G>C	HNF1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674360	NM_000458.4(HNF1B):c.1535-46T>G	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 1245270	NM_000458.4(HNF1B):c.1535-102A>G	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676878	NM_000458.4(HNF1B):c.1535-177T>C	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265455	NM_000458.4(HNF1B):c.1535-185G>C	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193087	NM_000458.4(HNF1B):c.1535-188C>T	HNF1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676876	NM_000458.4(HNF1B):c.1535-225_1535-224insC	HNF1B	Insertion (intron variant)	not provided +1 more	GBenign
Select item 672693	NM_000458.4(HNF1B):c.1534+252G>C	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290199	NM_000458.4(HNF1B):c.1534+105A>G	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706837	NM_000458.4(HNF1B):c.1507G>A (p.Ala503Thr)	HNF1B (A477T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 322945	NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)	HNF1B (G492S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3342401	NM_000458.4(HNF1B):c.1435C>T (p.His479Tyr)	HNF1B (H453Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 36841	NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)	HNF1B	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1172901	NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)	HNF1B (G438S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 549545	NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly)	HNF1B (V458G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 677779	NM_000458.4(HNF1B):c.1340-97G>A	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1292697	NM_000458.4(HNF1B):c.1340-100C>T	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235881	NM_000458.4(HNF1B):c.1340-115=	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674307	NM_000458.4(HNF1B):c.1340-303T>A	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1279728	NM_000458.4(HNF1B):c.1339+27T>C	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 984524	NM_000458.4(HNF1B):c.1239C>T (p.Val413=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 1212367	NM_000458.4(HNF1B):c.1207-54G>A	HNF1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206591	NM_000458.4(HNF1B):c.1207-66G>A	HNF1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676904	NM_000458.4(HNF1B):c.1207-247_1207-246insGG	HNF1B	Insertion (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 596527	NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)	HNF1B (A373T +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +4 more	GUncertain significance/Uncertain risk allele
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 +4 more	GConflicting classifications of pathogenicity
Select item 1700809	NM_000458.4(HNF1B):c.1054T>C (p.Tyr352His)	HNF1B (Y326H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243619	NM_000458.4(HNF1B):c.1046-279G>A	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667604	NM_000458.4(HNF1B):c.1045+330G>C	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 36838	NM_000458.4(HNF1B):c.1045+12T>C	HNF1B	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 286565	NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe)	HNF1B (S342F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 635616	NM_000458.4(HNF1B):c.1006del (p.His336fs)	HNF1B (H336fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 386723	NM_000458.4(HNF1B):c.983C>T (p.Pro328Leu)	HNF1B (P328L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 36855	NM_000458.4(HNF1B):c.951C>G (p.Ala317=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +5 more	GBenign/Likely benign
Select item 377967	NM_000458.4(HNF1B):c.948C>T (p.Asp316=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3340682	NM_000458.4(HNF1B):c.944T>C (p.Met315Thr)	HNF1B (M289T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342779	NM_000458.4(HNF1B):c.913A>G (p.Lys305Glu)	HNF1B (K279E +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 636637	NM_000458.4(HNF1B):c.892A>G (p.Asn298Asp)	HNF1B (N298D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 635630	NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)	HNF1B (R295P +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GLikely pathogenic
Select item 288154	NM_000458.4(HNF1B):c.884G>A (p.Arg295His)	HNF1B (R295H +1 more)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 635631	NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)	HNF1B (R295C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1318795	NM_000458.4(HNF1B):c.875C>T (p.Thr292Ile)	HNF1B (T266I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635641	NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)	HNF1B (R276Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12640	NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)	HNF1B (R276* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus +4 more	GPathogenic
Select item 1203436	NM_000458.4(HNF1B):c.810-32T>C	HNF1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235142	NM_000458.4(HNF1B):c.810-40G>C	HNF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678417	NM_000458.4(HNF1B):c.809+109A>G	HNF1B, LOC126862549	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1198571	NM_000458.4(HNF1B):c.809+63T>C	HNF1B, LOC126862549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280497	NM_000458.4(HNF1B):c.809+1G>T	HNF1B, LOC126862549	Single nucleotide variant (splice donor variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 635650	NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)	HNF1B, LOC126862549 (R261G +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 418253	NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)	LOC126862549, HNF1B (R252P +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GLikely pathogenic
Select item 514068	NM_000458.4(HNF1B):c.723G>A (p.Ala241=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Nonpapillary renal cell carcinoma +5 more	GBenign/Likely benign
Select item 635664	NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)	HNF1B, LOC126862549 (R235Q +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
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 +1 more	GLikely benign
Select item 1320511	NM_000458.4(HNF1B):c.697C>T (p.Arg233Cys)	HNF1B, LOC126862549 (R207C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317001	NM_000458.4(HNF1B):c.681CAA[1] (p.Asn228del)	HNF1B, LOC126862549 (N202del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 256209	NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)	HNF1B, LOC126862549 (N228K +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +3 more	GBenign/Likely benign
Select item 511470	NM_000458.4(HNF1B):c.657C>T (p.Ser219=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Renal cysts and diabetes syndrome +5 more	GBenign/Likely benign
Select item 546210	NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)	LOC126862549, HNF1B (S198R)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome +4 more	GUncertain significance/Uncertain risk allele
Select item 1316139	NM_000458.4(HNF1B):c.584A>G (p.Asp195Gly)	HNF1B, LOC126862549 (D195G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 676875	NM_000458.4(HNF1B):c.545-73TCTG[7]	HNF1B, LOC126862549	Microsatellite (intron variant)	not provided	GBenign
Select item 2720149	NM_000458.4(HNF1B):c.544+5G>A	HNF1B	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 12644	NM_000458.4(HNF1B):c.544+1G>T	HNF1B	Single nucleotide variant (splice donor variant)	HNF1B-related disorder +2 more	GPathogenic
Select item 586801	NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)	HNF1B (Q182*)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +4 more	GPathogenic
Select item 372381	NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)	HNF1B (R181*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 12635	NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)	HNF1B (R177*)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus +3 more	GPathogenic
Select item 1706375	NM_000458.4(HNF1B):c.520A>G (p.Arg174Gly)	HNF1B (R174G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620126	NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)	HNF1B (W171*)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 1810433	NM_000458.4(HNF1B):c.475C>T (p.Pro159Ser)	HNF1B (P159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759413	NM_000458.4(HNF1B):c.452C>T (p.Ser151Phe)	HNF1B (S151F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322947	NM_000458.4(HNF1B):c.444G>A (p.Ser148=)	HNF1B	Single nucleotide variant (synonymous variant)	Renal cysts and diabetes syndrome +3 more	GBenign/Likely benign
Select item 635698	NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)	HNF1B (S148L)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +3 more	GPathogenic/Likely pathogenic
Select item 12645	NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)	HNF1B (S148W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 586799	NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)	HNF1B (Q147*)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 280653	NM_000458.4(HNF1B):c.406dup (p.Gln136fs)	HNF1B (Q136fs)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +2 more	GPathogenic/Likely pathogenic
Select item 3368577	NM_000458.4(HNF1B):c.401T>C (p.Ile134Thr)	HNF1B (I134T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430698	NM_000458.4(HNF1B):c.376A>G (p.Lys126Glu)	HNF1B (K126E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36847	NM_000458.4(HNF1B):c.345-19C>T	HNF1B	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1166166	NM_000458.4(HNF1B):c.345-210=	HNF1B	Variation (intron variant)	not provided	GBenign
Select item 676933	NM_000458.4(HNF1B):c.345-228C>G	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 673431	NM_000458.4(HNF1B):c.344+256G>C	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 676932	NM_000458.4(HNF1B):c.344+228G>C	HNF1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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