"Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Univer - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 217

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499802	NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)	HNF1B (P553T +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 635574	NM_000458.4(HNF1B):c.1654-2A>T	HNF1B	Single nucleotide variant (splice acceptor variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635575	NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)	HNF1B (S547F +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635576	NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)	HNF1B (T537N +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome +1 more	GUncertain significance
Select item 595266	NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)	HNF1B (R527Q +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome +1 more	GUncertain significance
Select item 635577	NM_000458.4(HNF1B):c.1561dup (p.Gln521fs)	HNF1B (Q521fs +1 more)	Duplication (frameshift variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 392411	NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)	HNF1B (Q521* +1 more)	Single nucleotide variant (nonsense +1 more)	Renal cysts and diabetes syndrome +2 more	GPathogenic/Likely pathogenic
Select item 635578	NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr)	HNF1B (A514T +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GUncertain significance
Select item 635579	NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)	HNF1B (Y513C +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635580	NM_000458.4(HNF1B):c.1517del (p.Gln506fs)	HNF1B (Q480fs +1 more)	Deletion (frameshift variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635581	NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)	HNF1B (A502T +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635582	NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)	HNF1B (M495K +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
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 635583	NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter)	HNF1B (Q477* +1 more)	Single nucleotide variant (nonsense +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635584	NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs)	HNF1B (V446fs +1 more)	Duplication (intron variant +1 more)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 635585	NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter)	HNF1B (Q470* +1 more)	Single nucleotide variant (nonsense +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 12641	NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)	HNF1B (S465R +1 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 635586	NM_000458.4(HNF1B):c.1363_1364del (p.Ser455fs)	HNF1B (S429fs +1 more)	Microsatellite (frameshift variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635587	NM_000458.4(HNF1B):c.1360_1361del (p.Gln454fs)	HNF1B (Q428fs +1 more)	Microsatellite (frameshift variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635588	NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter)	HNF1B (Q454* +1 more)	Single nucleotide variant (nonsense +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635589	NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)	HNF1B (S451T +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635590	NM_000458.4(HNF1B):c.1339+1G>A	HNF1B	Single nucleotide variant (splice donor variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 36839	NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)	HNF1B (M442T +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GLikely pathogenic/Likely risk allele
Select item 635591	NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)	HNF1B (P437L +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635592	NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)	HNF1B	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635593	NM_000458.4(HNF1B):c.1299del (p.Ile434fs)	HNF1B (I408fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635595	NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)	HNF1B (N418T +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635594	NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)	HNF1B (N418I +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635596	NM_000458.4(HNF1B):c.1235dup (p.Val413fs)	HNF1B (V413fs +1 more)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 635597	NM_000458.4(HNF1B):c.1046-294_1206+704delinsGGTTTAAGGCACTACATTTTTTGGGAAGGACAGAAATCATGAAGTTAAAAGGAGG	HNF1B	Indel (splice acceptor variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635601	NM_000458.4(HNF1B):c.1047_1206+1dup	HNF1B	Duplication (splice acceptor variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635600	NM_000458.4(HNF1B):c.1206+1G>A	HNF1B	Single nucleotide variant (splice donor variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635599	NM_000458.4(HNF1B):c.1206+1G>C	HNF1B	Single nucleotide variant (splice donor variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635598	NM_000458.4(HNF1B):c.1047_1206+1del	HNF1B	Deletion (splice acceptor variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635603	NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu)	HNF1B	Deletion (inframe_indel)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635602	NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs)	HNF1B (M374fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely risk allele
Select item 635604	NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter)	HNF1B (Q382* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635605	NM_000458.4(HNF1B):c.1138del (p.Val380fs)	HNF1B (V354fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635606	NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter)	HNF1B (S379* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome	GPathogenic
Select item 224334	NM_000458.4(HNF1B):c.1132dup (p.Gln378fs)	HNF1B (Q352fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 379811	NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)	HNF1B (G370S +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 635607	NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)	HNF1B (I366fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 12642	NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)	HNF1B (Y352* +1 more)	Duplication (nonsense)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635608	NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)	HNF1B (Y352C +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635609	NM_000458.4(HNF1B):c.1048dup (p.Val350fs)	HNF1B (V350fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635610	NM_000458.3(HNF1B):c.1046del	HNF1B	Deletion	Renal cysts and diabetes syndrome	GPathogenic
Select item 635611	NM_000458.4(HNF1B):c.1046-2A>G	HNF1B	Single nucleotide variant (splice acceptor variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635612	NM_000458.4(HNF1B):c.811_1045+1del	HNF1B	Deletion (splice acceptor variant +1 more)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635613	NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)	HNF1B (S342P +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 635614	NM_000458.4(HNF1B):c.1009dup (p.His337fs)	HNF1B (H311fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 635617	NM_000458.4(HNF1B):c.1006dup (p.His336fs)	HNF1B (H310fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 635615	NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)	HNF1B (H336R +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
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 595653	NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)	HNF1B (H336D +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 36837	NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)	HNF1B (H336Y +1 more)	Single nucleotide variant (missense variant)	HNF1B-related condition +2 more	GConflicting classifications of pathogenicity
Select item 635618	NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)	HNF1B (P302fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635619	NM_000458.4(HNF1B):c.983del (p.Pro328fs)	HNF1B (P302fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635620	NM_000458.4(HNF1B):c.972_973del (p.His324fs)	HNF1B (H324fs +1 more)	Microsatellite (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635621	NM_000458.4(HNF1B):c.967dup (p.Thr323fs)	HNF1B (T297fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 36856	NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)	HNF1B (N321S +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GConflicting classifications of pathogenicity
Select item 635622	NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter)	HNF1B (Y318* +1 more)	Duplication (nonsense)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635623	NM_000458.4(HNF1B):c.949del (p.Ala317fs)	HNF1B (A291fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 36854	NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)	HNF1B (A317S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 635624	NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)	HNF1B (A314T +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635625	NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter)	HNF1B (Q311* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635626	NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)	HNF1B (N302K +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
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 635628	NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)	HNF1B (W299G +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635629	NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)	HNF1B (V296F +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635630	NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)	HNF1B (R295P +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Renal cysts and diabetes syndrome +3 more	GConflicting classifications of pathogenicity
Select item 635631	NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)	HNF1B (R295C +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 635632	NM_000458.4(HNF1B):c.869T>A (p.Leu290Ter)	HNF1B (L290* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635633	NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)	HNF1B (N289D +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 635634	NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)	HNF1B (G287V +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635635	NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)	HNF1B (L286V +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635636	NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp)	HNF1B (G285D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 562392	NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)	HNF1B (G285S +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635637	NM_000458.4(HNF1B):c.850del (p.His284fs)	HNF1B (H258fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635639	NM_000458.4(HNF1B):c.840dup (p.Ser281fs)	HNF1B (S255fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 635638	NM_000458.4(HNF1B):c.840del (p.Ser281fs)	HNF1B (S255fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
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 635640	NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)	HNF1B (R276G +1 more)	Single nucleotide variant (missense variant)	HNF1B-related condition +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)	Nonpapillary renal cell carcinoma +3 more	GPathogenic
Select item 635642	NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter)	HNF1B (Q275* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635644	NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)	HNF1B (C273Y +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635643	NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)	HNF1B (C273S +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 635645	NM_000458.4(HNF1B):c.810-2A>C	HNF1B	Single nucleotide variant (splice acceptor variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 635646	NM_000458.4(HNF1B):c.810-4C>G	HNF1B	Single nucleotide variant (intron variant)	Renal cysts and diabetes syndrome	GLikely benign
Select item 635647	NM_000458.4(HNF1B):c.809+1G>A	HNF1B, LOC126862549	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 280497	NM_000458.4(HNF1B):c.809+1G>T	HNF1B, LOC126862549	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 635648	NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)	HNF1B, LOC126862549 (L264S +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 586803	NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)	HNF1B, LOC126862549	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 635649	NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs)	HNF1B, LOC126862549 (A263fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome	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 598272	NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)	HNF1B, LOC126862549 (E260D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 635651	NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)	HNF1B, LOC126862549 (P256S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 635652	NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)	HNF1B, LOC126862549 (Q253P +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 418253	NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)	HNF1B, LOC126862549 (R252P +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GLikely pathogenic
Select item 635653	NM_000458.4(HNF1B):c.742C>T (p.Gln248Ter)	HNF1B, LOC126862549 (Q248* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome	GPathogenic

<< First< Prev

Page of 3