"Ambry Genetics"[submitter] AND "HNF1B"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499805	NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)	HNF1B (L426M)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 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)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
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 593736	NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)	HNF1B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1774025	NM_000458.4(HNF1B):c.1501A>G (p.Met501Val)	HNF1B (M475V +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	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 1771290	NM_000458.4(HNF1B):c.1381A>G (p.Ser461Gly)	HNF1B (S435G +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 593888	NM_000458.4(HNF1B):c.1338A>G (p.Gln446=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 979080	NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter)	HNF1B (Q402* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1744012	NM_000458.4(HNF1B):c.1188C>T (p.Leu396=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1734332	NM_000458.4(HNF1B):c.1152C>A (p.Val384=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1799376	NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile)	HNF1B (T376I +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
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 1788042	NM_000458.4(HNF1B):c.1087T>C (p.Ser363Pro)	HNF1B (S337P +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1780802	NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)	HNF1B (Q328H +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3284533	NM_000458.4(HNF1B):c.1014del (p.Gln338fs)	HNF1B (Q338fs +1 more)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 1790397	NM_000458.4(HNF1B):c.1008C>G (p.His336Gln)	HNF1B (H336Q +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 595653	NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)	HNF1B (H336D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2043239	NM_000458.4(HNF1B):c.999C>T (p.Gly333=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 2525968	NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe)	HNF1B (L304F +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
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 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 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 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 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 1757313	NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg)	HNF1B, LOC126862549 (W212R +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	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 635668	NM_000458.4(HNF1B):c.544+3_544+6del	HNF1B	Deletion (splice donor variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic/Likely pathogenic
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 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 2887986	NM_000458.4(HNF1B):c.429C>T (p.Thr143=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	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 +1 more	GConflicting classifications of pathogenicity
Select item 1734633	NM_000458.4(HNF1B):c.375C>A (p.Ile125=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1727842	NM_000458.4(HNF1B):c.311C>T (p.Ala104Val)	HNF1B (A104V)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3231754	NM_000458.4(HNF1B):c.300C>G (p.Thr100=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 2603668	NM_000458.4(HNF1B):c.271A>G (p.Ile91Val)	HNF1B (I91V)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	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 381601	NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)	HNF1B (V61G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3284532	NM_000458.4(HNF1B):c.165G>A (p.Glu55=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 979138	NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)	HNF1B (G53W)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 36852	NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)	HNF1B (V25L)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 1316013	NM_000458.4(HNF1B):c.66C>A (p.Thr22=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1751609	NM_000458.4(HNF1B):c.60G>A (p.Gly20=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 322948	NM_000458.4(HNF1B):c.36C>T (p.Leu12=)	HNF1B	Single nucleotide variant (synonymous variant)	Renal cysts and diabetes syndrome +2 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 +3 more	GConflicting classifications of pathogenicity
Select item 1768916	NM_000458.4(HNF1B):c.9C>G (p.Ser3=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign

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Items: 48