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Links from MedGen

Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(P21T)
Single nucleotide variant
(missense variant +2 more)
Diabetes mellitus type 1
+3 more
GUncertain significance
HNF1A
(E444* +1 more)
Single nucleotide variant
(nonsense)
Type 1 diabetes mellitus 20
GPathogenic
HNF1A
(T537M)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+6 more
GUncertain significance
HNF1A
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
HNF1A
(P519L)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
C12orf43, HNF1A
(S593T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Monogenic diabetes
GUncertain significance
HNF1A
(P291L)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
C12orf43, HNF1A
(H609Y +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Monogenic diabetes
GUncertain significance
HNF1A
(G47E)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(synonymous variant)
Diabetes mellitus type 1
+6 more
GLikely benign
HNF1A
Single nucleotide variant
(intron variant)
Diabetes mellitus type 1
+6 more
GLikely benign
HNF1A
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
HNF1A
(P379H)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GBenign
HNF1A
(P519S)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
HNF1A
(Q175R)
Single nucleotide variant
(missense variant)
Hepatic adenomas, familial
+6 more
GUncertain significance
HNF1A
(P295L)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 3
+6 more
GUncertain significance
HNF1A
Single nucleotide variant
(genic upstream transcript variant)
Monogenic diabetes
GUncertain significance
HNF1A
(P289T)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+7 more
GUncertain significance
HNF1A
(E79V)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 3
+6 more
GUncertain significance
HNF1A
(H387Y)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 3
+6 more
GUncertain significance
HNF1A
(P291A)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(L86H)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(P289fs)
Insertion
(frameshift variant)
not provided
+2 more
GPathogenic
HNF1A
(H505N)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(V344M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HNF1A
(A586T +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
HNF1A
(P289S)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(splice acceptor variant +1 more)
Type 2 diabetes mellitus
+5 more
GLikely pathogenic
HNF1A
(S574G +1 more)
Inversion
(missense variant)
not provided
+6 more
GLikely benign
HNF1A
(G20R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
Deletion
(inframe_deletion)
Diabetes mellitus type 1
+5 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(synonymous variant)
Hepatic adenomas, familial
+7 more
GConflicting classifications of pathogenicity
HNF1A
(E275A)
Single nucleotide variant
(missense variant)
Type 1 diabetes mellitus 20
GUncertain significance
HNF1A
(V259I)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1A
(G42D)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+7 more
GUncertain significance
HNF1A
(S569N +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+7 more
GUncertain significance
HNF1A
(V567I +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+4 more
GUncertain significance
HNF1A
(D546A +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+7 more
GUncertain significance/Uncertain risk allele
HNF1A
Single nucleotide variant
(synonymous variant)
Type 1 diabetes mellitus 20
+2 more
GConflicting classifications of pathogenicity
HNF1A
(T425M)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance/Uncertain risk allele
HNF1A
(P379T)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(P291T)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(P467L)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+5 more
GUncertain significance
HNF1A
(R321H)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+6 more
GConflicting classifications of pathogenicity
HNF1A
(A161T)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+6 more
GUncertain significance
HNF1A
(V167I)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GUncertain significance/Uncertain risk allele
HNF1A
(Q583P +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GUncertain significance/Uncertain risk allele
HNF1A
(G47R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(T441K)
Single nucleotide variant
(missense variant)
Hepatic adenomas, familial
+7 more
GUncertain significance
HNF1A
Single nucleotide variant
(synonymous variant)
Diabetes mellitus type 1
+8 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+8 more
GBenign/Likely benign
HNF1A
Single nucleotide variant
(intron variant)
not provided
+7 more
GConflicting classifications of pathogenicity
HNF1A
(T525S)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 3
+8 more
GUncertain significance
HNF1A
(E275del)
Microsatellite
(inframe_deletion)
not provided
+7 more
GConflicting classifications of pathogenicity
HNF1A
(D526N)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 3
+6 more
GUncertain significance
HNF1A
(R272C)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
Single nucleotide variant
(synonymous variant)
Diabetes mellitus type 1
+8 more
GBenign/Likely benign
HNF1A
(T10M)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(H514R)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+7 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(intron variant)
Maturity onset diabetes mellitus in young
+8 more
GConflicting classifications of pathogenicity
HNF1A
(P379A)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GBenign
HNF1A
Single nucleotide variant
(splice donor variant +1 more)
Monogenic diabetes
GLikely pathogenic
HNF1A
(R229*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
HNF1A
(P308L)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance/Uncertain risk allele
HNF1A
(G339S)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 3
+8 more
GLikely benign
HNF1A
Microsatellite
(5 prime UTR variant)
Monogenic diabetes
GBenign
HNF1A
Duplication
(intron variant)
Maturity onset diabetes mellitus in young
+8 more
GBenign/Likely benign
HNF1A
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+8 more
GBenign/Likely benign
HNF1A
(R114H)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 1
+5 more
GUncertain significance
HNF1A
Single nucleotide variant
(intron variant)
Maturity onset diabetes mellitus in young
+7 more
GConflicting classifications of pathogenicity
HNF1A
(S581G +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GBenign
HNF1A
(A544T)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 3
+3 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+6 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 3
+7 more
GBenign/Likely benign
HNF1A
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 3
+8 more
GBenign/Likely benign
HNF1A
(G31D)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GBenign
HNF1A
(R583Q +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 3
+6 more
GConflicting classifications of pathogenicity
HNF1A
(E48fs)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(R583G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HNF1A
(R272H)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(P447L)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(G292fs)
Duplication
(frameshift variant)
Monogenic diabetes
GPathogenic
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