"Genetic Services Laboratory, University of Chicago"[submitter] AND "H - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593924	NM_000458.4(HNF1B):c.1654-9T>A	HNF1B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1337789	NM_000458.4(HNF1B):c.1508C>T (p.Ala503Val)	HNF1B (A477V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 286565	NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe)	HNF1B (S342F +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 1337503	NM_000458.4(HNF1B):c.831G>A (p.Gly277=)	HNF1B	Single nucleotide variant (synonymous variant)	Nonpapillary renal cell carcinoma +4 more	GLikely benign
Select item 1338597	NM_000458.4(HNF1B):c.807_809+3del	HNF1B, LOC126862549	Deletion (splice donor variant)	not provided	GPathogenic
Select item 972750	NM_000458.4(HNF1B):c.660T>C (p.Asp220=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 1337314	NM_000458.4(HNF1B):c.658G>C (p.Asp220His)	HNF1B, LOC126862549 (D194H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 511470	NM_000458.4(HNF1B):c.657C>T (p.Ser219=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +5 more	GBenign/Likely benign
Select item 805639	NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)	HNF1B, LOC126862549 (M193T)	Single nucleotide variant (missense variant +1 more)	Nonpapillary renal cell carcinoma +4 more	GUncertain significance
Select item 12647	NM_000458.4(HNF1B):c.494G>A (p.Arg165His)	HNF1B (R165H)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GPathogenic/Likely pathogenic
Select item 322947	NM_000458.4(HNF1B):c.444G>A (p.Ser148=)	HNF1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 597812	NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)	HNF1B (E105K)	Single nucleotide variant (missense variant)	HNF1B-related disorder +2 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 36852	NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)	HNF1B (V25L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1337504	NM_000458.4(HNF1B):c.-134G>A	HNF1B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 322953	NM_000458.3(HNF1B):c.-178G>A	HNF1B	Single nucleotide variant	Renal cysts and diabetes syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1336252	NM_000458.3(HNF1B):c.-338C>A	HNF1B	Single nucleotide variant	not specified	GUncertain significance