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Links from MedGen

Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNF4A
(Q370R +3 more)
Single nucleotide variant
(missense variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
GUncertain significance
HNF4A
(S3R)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 1
+4 more
GConflicting classifications of pathogenicity
SCNN1B
(R469C +1 more)
Single nucleotide variant
(missense variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
GUncertain significance
HNF4A
(G200S +3 more)
Single nucleotide variant
(missense variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
GUncertain significance
HNF4A
(L23I +3 more)
Single nucleotide variant
(missense variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
+3 more
GUncertain significance
HNF4A
(E235D +3 more)
Single nucleotide variant
(missense variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
+2 more
GUncertain significance
HNF4A
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 1
+3 more
GUncertain significance
HNF4A
(R415Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GLikely benign
HNF4A
(R100Q +3 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+3 more
GUncertain significance
HNF4A
(V379I +3 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+3 more
GUncertain significance
HNF4A
(G146R +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
HNF4A
Single nucleotide variant
(synonymous variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
+3 more
GLikely benign
HNF4A
Single nucleotide variant
(intron variant)
not specified
+3 more
GLikely benign
HNF4A
(R228W +3 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
HNF4A
(A193D +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
HNF4A
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
HNF4A
(V105I +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF4A
(I421V +6 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+4 more
GUncertain significance
HNF4A
(L194M +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF4A
(R136Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance/Uncertain risk allele
HNF4A
(V239M +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
HNF4A
(E210K +3 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance/Uncertain risk allele
HNF4A
Single nucleotide variant
(intron variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
GUncertain significance
HNF4A
(S142P +3 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance/Uncertain risk allele
HNF4A
(L319del +3 more)
Microsatellite
(inframe_deletion)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
+2 more
GUncertain significance
HNF4A
Single nucleotide variant
(synonymous variant)
HNF4A-related disorder
+5 more
GLikely benign
HNF4A
Single nucleotide variant
(synonymous variant)
HNF4A-related disorder
+5 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+4 more
GLikely benign
HNF4A
(M1T)
Single nucleotide variant
(missense variant +2 more)
Monogenic diabetes
GLikely pathogenic
HNF4A
(Y261C +3 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 1
+3 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(splice acceptor variant)
Monogenic diabetes
GLikely pathogenic
HNF4A
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 1
+4 more
GBenign/Likely benign
HNF4A
(I140V +3 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 1
+4 more
GUncertain significance
HNF4A
(T15M +3 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
HNF4A
(R152Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(intron variant)
Maturity-onset diabetes of the young type 1
+5 more
GConflicting classifications of pathogenicity
HNF4A
(R100W +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF4A
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
HNF4A
(G390R +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GBenign
HNF4A
Microsatellite
(inframe_insertion)
Monogenic diabetes
GPathogenic
HNF4A
(D279N +3 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+5 more
GUncertain significance
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+4 more
GConflicting classifications of pathogenicity
HNF4A
(R60W +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF4A
(P420S +6 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
HNF4A
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(synonymous variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
+6 more
GBenign/Likely benign
HNF4A
(S121G +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely benign
HNF4A
(I431V +6 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GBenign
HNF4A
Single nucleotide variant
(synonymous variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
+6 more
GBenign/Likely benign
HNF4A
(V380I +3 more)
Single nucleotide variant
(missense variant)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
+3 more
GUncertain significance
HNF4A
(R114W +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
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