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 193

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2048 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+2049 more
Copy number gain
See cases
GPathogenic
LOC126861801, LOC126861802
+2047 more
Copy number gain
See cases
GPathogenic
PDS5B, PDX1
+566 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2044 more
Copy number gain
See cases
GPathogenic
LOC126861839, LOC126861840
+2045 more
Copy number gain
See cases
GPathogenic
LOC130009480, LOC130009481
+488 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2040 more
Copy number gain
See cases
GPathogenic
USPL1, WASF3
+415 more
Copy number gain
See cases
GPathogenic
LOC124849292, LOC124849293
+2028 more
Copy number gain
See cases
GPathogenic
LOC130009376, LOC130009377
+620 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2021 more
Copy number gain
See cases
GPathogenic
LOC130009743, LOC130009744
+2024 more
Copy number gain
See cases
GPathogenic
LOC130009548, LOC130009549
+2024 more
Copy number gain
See cases
GPathogenic
CDX2, FLT1
+123 more
Copy number gain
See cases
GLikely pathogenic
PDX1
Single nucleotide variant
not provided
GBenign
PDX1
Single nucleotide variant
not provided
GBenign
PDX1
Deletion
(5 prime UTR variant)
not provided
GBenign
PDX1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
PDX1
Microsatellite
(5 prime UTR variant)
Maturity-onset diabetes of the young type 4
GUncertain significance
PDX1
Microsatellite
(5 prime UTR variant)
not specified
GLikely benign
PDX1
Deletion
(5 prime UTR variant)
PDX1-related condition
GUncertain significance
PDX1
Single nucleotide variant
(5 prime UTR variant)
PDX1-related condition
GLikely benign
PDX1
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PDX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PDX1
(G3A)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 4
+4 more
GUncertain significance
PDX1
(A10T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
PDX1
(D16V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(C18R)
Single nucleotide variant
(missense variant)
Pancreatic agenesis 1
+3 more
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDX1
(Q21L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(P26L)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia
GUncertain significance
PDX1
(F28V)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia
GUncertain risk allele
PDX1
(S31N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(P33S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PDX1
(P33A)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 4
+3 more
GConflicting classifications of pathogenicity
PDX1
(P33T)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+5 more
GConflicting classifications of pathogenicity
PDX1
(P33H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDX1
(A34V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PDX1
(L36R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PDX1
(Y37F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PDX1
(M38L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDX1
(P42S)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia
GUncertain risk allele
PDX1
Microsatellite
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
PDX1
(P43fs)
Insertion
(frameshift variant)
Monogenic diabetes
GUncertain significance
PDX1
(P45R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(P47L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
Pancreatic hypoplasia
+4 more
GBenign/Likely benign
PDX1
(G55D)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 4
+1 more
GConflicting classifications of pathogenicity
PDX1
Single nucleotide variant
(synonymous variant)
PDX1-related condition
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+2 more
GBenign/Likely benign
PDX1
(Q59K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(Q59L)
Single nucleotide variant
(missense variant)
Diabetes mellitus type 2, susceptibility to
Grisk factor
PDX1
(P63fs)
Deletion
(frameshift variant)
Pancreatic agenesis 1
+4 more
GConflicting classifications of pathogenicity
PDX1
(P62S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(D64Y)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
PDX1
(D64G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(E69G)
Single nucleotide variant
(missense variant)
PDX1-related condition
GUncertain significance
PDX1
(V70M)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+3 more
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GLikely benign
PDX1
(L73fs)
Duplication
(frameshift variant)
PDX1-Related Disorders
+1 more
GPathogenic/Likely pathogenic
PDX1
(L73fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDX1
(P71T)
Single nucleotide variant
(missense variant)
PDX1-related condition
+4 more
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
PDX1
(L73V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(D76N)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+5 more
GBenign/Likely benign
PDX1
(P77S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
GLikely benign
PDX1
(A80V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
GLikely benign
PDX1
(P87A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(L92F)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia
GUncertain risk allele
PDX1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PDX1
(H94Q)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 4
GUncertain significance
PDX1
(P95Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
not specified
GConflicting classifications of pathogenicity
PDX1
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
GLikely benign
PDX1
(P99H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
PDX1-related condition
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
Pancreatic agenesis 1
+5 more
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 4
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PDX1
(L117M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDX1
(W121C)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 4
GUncertain significance
PDX1
(K126N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDX1
(G132D)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia
GUncertain risk allele
PDX1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDX1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDX1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDX1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDX1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDX1
(A140T)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination