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Items: 1 to 100 of 282

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNF1A
Single nucleotide variant
(genic upstream transcript variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
Deletion
(5 prime UTR variant)
Maturity-onset diabetes of the young type 3
GPathogenic
HNF1A
(M1L)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GLikely pathogenic
HNF1A
(M1L)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GPathogenic
HNF1A
(M1V)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GPathogenic
HNF1A
(M1T)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GPathogenic
HNF1A
(V2fs)
Deletion
(frameshift variant +1 more)
Monogenic diabetes
GPathogenic
HNF1A
(S6C)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(S6N)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
Duplication
(inframe_insertion)
Monogenic diabetes
GLikely pathogenic
HNF1A
(Q7*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
HNF1A
(Q9*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
HNF1A
(Q9L)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 3
GLikely pathogenic
HNF1A
(T10P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(L12F)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(L12V)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(L12R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(A15fs)
Indel
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(E18*)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+2 more
GPathogenic/Likely pathogenic
HNF1A
(G20R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(G20R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(G20E)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(G20A)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(G20V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HNF1A
(E24fs)
Microsatellite
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(L26P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(Q28*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GLikely pathogenic
HNF1A
(E32*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
HNF1A
(P33L)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(Y36fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HNF1A
(E41*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
HNF1A
(L44fs)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(L44fs)
Indel
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(E48fs)
Duplication
(frameshift variant)
not provided
GPathogenic
HNF1A
(G47fs)
Deletion
(frameshift variant)
Maturity onset diabetes mellitus in young
GLikely pathogenic
HNF1A
(E48fs)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(S49Y)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HNF1A
(C50*)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+1 more
GPathogenic/Likely pathogenic
HNF1A
(R54G)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GPathogenic
HNF1A
(R54*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
HNF1A
(G55fs)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(E56*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HNF1A
(L57fs)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(E59*)
Duplication
(nonsense)
not provided
GPathogenic
HNF1A
(N62fs)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(N62fs)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(E66fs)
Duplication
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(G69fs)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(E71*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HNF1A
(E73*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GLikely pathogenic
HNF1A
(T82fs)
Insertion
(frameshift variant)
not provided
GPathogenic
HNF1A
(K87*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GLikely pathogenic
HNF1A
(E88*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HNF1A
(E95*)
Duplication
(nonsense)
Monogenic diabetes
GLikely pathogenic
HNF1A
(E105fs)
Duplication
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(L107V)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(L107I)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(L107P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(L107R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
Single nucleotide variant
(splice donor variant)
Monogenic diabetes
GPathogenic
HNF1A
Single nucleotide variant
(splice donor variant)
Monogenic diabetes
GPathogenic
HNF1A
Single nucleotide variant
(splice donor variant)
Monogenic diabetes
GPathogenic
HNF1A
Single nucleotide variant
(splice donor variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
Deletion
(splice acceptor variant)
Maturity onset diabetes mellitus in young
+1 more
GPathogenic/Likely pathogenic
HNF1A
Single nucleotide variant
(splice acceptor variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
Single nucleotide variant
(splice acceptor variant)
Monogenic diabetes
GPathogenic
HNF1A
Single nucleotide variant
(splice acceptor variant)
Monogenic diabetes
GPathogenic
HNF1A
(P112fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HNF1A
(P112L)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(W113*)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
GPathogenic
HNF1A
(V115fs)
Duplication
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(A116V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HNF1A
(K120E)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(K120N)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(Y122C)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(Y122*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HNF1A
(L123V)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
Microsatellite
(inframe_insertion)
Monogenic diabetes
GLikely pathogenic
HNF1A
(Q124*)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+1 more
GPathogenic
HNF1A
(Q125*)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
GPathogenic
HNF1A
(H126R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HNF1A
(N127del)
Microsatellite
(inframe_deletion)
Monogenic diabetes
GLikely pathogenic
HNF1A
(Q130*)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+1 more
GPathogenic
HNF1A
(R131W)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(R131Q)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(R131L)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(V133M)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(V134fs)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(D135fs)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(D135A)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GLikely pathogenic
HNF1A
(L139P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HNF1A
(S142F)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(H143fs)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(H143Y)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(H143Q)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(L144R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HNF1A
(S145F)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF1A
(G151fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HNF1A
(K158*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HNF1A
(R159G)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
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