"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HNF1B"[gene] - ClinVar

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Items: 35

	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)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 1343483	NM_000458.4(HNF1B):c.1534+11G>A	HNF1B	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +4 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 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 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 1516497	NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)	HNF1B (M435I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 290901	NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)	HNF1B (I403F +1 more)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +3 more	GUncertain significance
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 1365752	NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)	HNF1B (S351fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
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 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 635633	NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)	HNF1B (N289D +1 more)	Single nucleotide variant (missense variant)	Hyperechogenic kidneys +3 more	GPathogenic/Likely pathogenic
Select item 1337503	NM_000458.4(HNF1B):c.831G>A (p.Gly277=)	HNF1B	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +4 more	GLikely 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 635647	NM_000458.4(HNF1B):c.809+1G>A	LOC126862549, HNF1B	Single nucleotide variant (splice donor variant)	Renal cysts and diabetes syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1255602	NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)	HNF1B, LOC126862549 (R226W +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +2 more	GUncertain significance
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 972750	NM_000458.4(HNF1B):c.660T>C (p.Asp220=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	not provided +5 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 1457328	NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)	HNF1B, LOC126862549 (Q212* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +3 more	GPathogenic/Likely pathogenic
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 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 1536561	NM_000458.4(HNF1B):c.544+14T>A	HNF1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 12643	NM_000458.4(HNF1B):c.544+1G>A	HNF1B	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus +3 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 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 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 36849	NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)	HNF1B	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 635724	NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)	HNF1B (E78*)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +2 more	GPathogenic
Select item 36840	NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)	HNF1B (P47L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 635731	NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)	HNF1B (S36F)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +4 more	GConflicting classifications of pathogenicity

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Items: 35