U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 954

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
ANKLE2, ARL6IP4
+906 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+892 more
Copy number gain
See cases
GPathogenic
ZNF664, ZNF664-RFLNA
+786 more
Copy number gain
See cases
GPathogenic
ACADS, ANAPC5
+264 more
Copy number gain
See cases
GUncertain significance
ACADS, ANAPC5
+175 more
Copy number loss
See cases
GPathogenic
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
LOC130009086, LOC130009087
+416 more
Copy number loss
See cases
GPathogenic
HNF1A
Single nucleotide variant
not specified
GUncertain significance
HNF1A
Single nucleotide variant
not specified
+1 more
GBenign/Likely benign
HNF1A
Single nucleotide variant
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
Maturity onset diabetes mellitus in young
+1 more
GLikely benign
HNF1A
Single nucleotide variant
not specified
+1 more
GLikely benign
HNF1A
Deletion
not specified
GUncertain significance
HNF1A
Single nucleotide variant
not specified
GUncertain significance
HNF1A
Single nucleotide variant
(genic upstream transcript variant)
Monogenic diabetes
GUncertain significance
HNF1A
Deletion
(genic upstream transcript variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(genic upstream transcript variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
Single nucleotide variant
not provided
GUncertain significance
HNF1A
Single nucleotide variant
not provided
GUncertain significance
HNF1A
Single nucleotide variant
(genic upstream transcript variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNF1A
Microsatellite
(5 prime UTR variant)
Monogenic diabetes
GBenign
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
HNF1A
Deletion
(5 prime UTR variant)
Maturity-onset diabetes of the young type 3
GPathogenic
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
HNF1A
Single nucleotide variant
(5 prime UTR variant)
HNF1A-related condition
+2 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(5 prime UTR variant)
HNF1A-related condition
+2 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
HNF1A
Single nucleotide variant
(5 prime UTR variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GUncertain significance
HNF1A
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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
(V2I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNF1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNF1A
(L5R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(S6C)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(S6N)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(S6I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HNF1A
Duplication
(inframe_insertion)
Monogenic diabetes
GLikely pathogenic
HNF1A
(Q7*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
HNF1A
(L8M)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
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
(Q9P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(Q9R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(T10P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(T10M)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
GLikely benign
HNF1A
Single nucleotide variant
(synonymous variant)
Monogenic diabetes
GUncertain significance
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
(L12P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(L12H)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(A14V)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(A15fs)
Indel
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
Single nucleotide variant
(synonymous variant)
Monogenic diabetes
GUncertain significance
HNF1A
(A15T)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GLikely risk allele
HNF1A
(A15S)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+1 more
GConflicting classifications of pathogenicity
HNF1A
(A15V)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(L16V)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(L16P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(L17V)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(L17H)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
Single nucleotide variant
(synonymous variant)
HNF1A-related condition
GLikely benign
HNF1A
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
HNF1A
(E18*)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+2 more
GPathogenic/Likely pathogenic
HNF1A
(S19A)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(S19L)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
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
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
GBenign
HNF1A
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 3
GUncertain significance
HNF1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNF1A
(S22R)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(E24fs)
Microsatellite
(frameshift variant)
Monogenic diabetes
GPathogenic
HNF1A
(A25P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(A25T)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(L26R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNF1A
(L26P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
HNF1A
(I27P)
Indel
(missense variant)
not provided
GUncertain significance
HNF1A
(I27L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
HNF1A
(I27S)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(I27T)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
HNF1A
(Q28*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination