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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNF1B
(L426M)
Single nucleotide variant
(synonymous variant +1 more)
HNF1B-related condition
+2 more
GConflicting classifications of pathogenicity
HNF1B
(Q555K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance/Uncertain risk allele
HNF1B
(P553T +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+4 more
GUncertain significance
HNF1B
Single nucleotide variant
(intron variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1B
(M532V +1 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+4 more
GConflicting classifications of pathogenicity
HNF1B
(A531P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1B
(R527Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Renal cysts and diabetes syndrome
+1 more
GUncertain significance
HNF1B
Single nucleotide variant
(synonymous variant +1 more)
HNF1B-related condition
+3 more
GConflicting classifications of pathogenicity
HNF1B
(Q495fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
HNF1B
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant +1 more)
HNF1B-related condition
+2 more
GConflicting classifications of pathogenicity
HNF1B
(V472I +1 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant +1 more)
HNF1B-related condition
+5 more
GBenign/Likely benign
HNF1B
(L466V +1 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1B
(Q446E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1B
(I403F +1 more)
Single nucleotide variant
(missense variant)
Renal cysts and diabetes syndrome
+4 more
GConflicting classifications of pathogenicity
HNF1B
(A373T +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance/Uncertain risk allele
HNF1B
(S372R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNF1B
(G370S +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
HNF1B
(S362F +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1B
(S353T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1B
(S353G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance/Uncertain risk allele
HNF1B
(S342F +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+3 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1B
(H336D +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF1B
(S325N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant)
Renal cysts and diabetes syndrome
+5 more
GBenign/Likely benign
HNF1B
(R295H +1 more)
Single nucleotide variant
(missense variant)
Renal cysts and diabetes syndrome
+3 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1B, LOC126862549
(E260D +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HNF1B, LOC126862549
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
HNF1B, LOC126862549
(A241T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HNF1B, LOC126862549
(N228K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
HNF1B, LOC126862549
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+5 more
GBenign/Likely benign
HNF1B, LOC126862549
Single nucleotide variant
(synonymous variant)
HNF1B-related condition
+1 more
GConflicting classifications of pathogenicity
HNF1B
(R181*)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+2 more
GPathogenic
HNF1B
(M160R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance/Uncertain risk allele
HNF1B
(T158I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNF1B
(G144S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant)
HNF1B-related condition
+2 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1B
(A122T)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GUncertain significance/Uncertain risk allele
HNF1B
Single nucleotide variant
(intron variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
HNF1B
(M113I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance/Uncertain risk allele
HNF1B
(E109K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNF1B
(E105K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1B
(T100A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNF1B
(D85G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HNF1B
(D82N)
Single nucleotide variant
(missense variant)
HNF1B-related condition
+5 more
GConflicting classifications of pathogenicity
HNF1B
(G76C)
Single nucleotide variant
(missense variant)
HNF1B-related condition
+4 more
GConflicting classifications of pathogenicity
HNF1B
(V61G)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
HNF1B
(P47L)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+4 more
GUncertain significance
HNF1B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HNF1B
(V25L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
HNF1B
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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