"Athena Diagnostics"[submitter] AND "HNF1B"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36844	NM_000458.4(HNF1B):c.1654-4G>A	HNF1B	Single nucleotide variant (intron variant)	Renal cysts and diabetes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 36842	NM_000458.4(HNF1B):c.1654-11_1654-9delinsC	HNF1B	Indel (intron variant)	Renal cysts and diabetes syndrome +2 more	GUncertain significance
Select item 594386	NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)	HNF1B (M532V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	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 499838	NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)	HNF1B	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 447511	NM_000458.4(HNF1B):c.1339+17G>A	HNF1B	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 447510	NM_000458.4(HNF1B):c.1339+12T>C	HNF1B	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 994817	NM_000458.4(HNF1B):c.1243A>T (p.Thr415Ser)	HNF1B (T389S +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 447509	NM_000458.4(HNF1B):c.1207-7C>T	HNF1B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 994816	NM_000458.4(HNF1B):c.1207-18T>C	HNF1B	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 447508	NM_000458.4(HNF1B):c.1206+42_1206+46del	HNF1B	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 447507	NM_000458.4(HNF1B):c.1046-12G>A	HNF1B	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
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 994819	NM_000458.4(HNF1B):c.972C>T (p.His324=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 805641	NM_000458.4(HNF1B):c.852C>T (p.His284=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 586803	NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)	HNF1B, LOC126862549	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 598272	NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)	HNF1B, LOC126862549 (E260D +1 more)	Single nucleotide variant (missense variant)	not specified +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)	Renal cysts and diabetes syndrome +1 more	GLikely pathogenic
Select item 805640	NM_000458.4(HNF1B):c.738G>T (p.Leu246Phe)	HNF1B, LOC126862549 (L220F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 36851	NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)	LOC126862549, HNF1B (R235W +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
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 586802	NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs)	HNF1B, LOC126862549 (S187fs +1 more)	Duplication (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 805639	NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)	HNF1B, LOC126862549 (M193T)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome +4 more	GUncertain significance
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 12647	NM_000458.4(HNF1B):c.494G>A (p.Arg165His)	HNF1B (R165H)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GPathogenic/Likely pathogenic
Select item 586800	NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn)	HNF1B (T158N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1256561	NM_000458.4(HNF1B):c.374T>A (p.Ile125Asn)	HNF1B (I125N)	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 447512	NM_000458.4(HNF1B):c.344+1G>A	HNF1B	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 193101	NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)	HNF1B (D82N)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +4 more	GConflicting classifications of pathogenicity
Select item 193102	NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)	HNF1B (G76C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 450822	NM_000458.4(HNF1B):c.146C>G (p.Ser49Cys)	HNF1B (S49C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 994818	NM_000458.4(HNF1B):c.135G>A (p.Thr45=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1807423	NM_000458.4(HNF1B):c.127C>G (p.Leu43Val)	HNF1B (L43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684076	NM_000458.4(HNF1B):c.78G>T (p.Leu26=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684077	NM_000458.4(HNF1B):c.-8C>G	HNF1B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

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Items: 46