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 619

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+863 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
FAM153A, FAM153B
+176 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
LOC129995374, LOC129995375
+136 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+142 more
Copy number loss
See cases
GPathogenic
ARL10, CDHR2
+129 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+141 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+137 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+134 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+140 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+172 more
Copy number loss
See cases
GPathogenic
B4GALT7, CDHR2
+113 more
Copy number loss
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
B4GALT7, DBN1
+65 more
Copy number gain
See cases
GUncertain significance
DDX41
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
DDX41
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
DDX41
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
DDX41
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
DDX41
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DDX41
Single nucleotide variant
(3 prime UTR variant)
DDX41-related disorder
GLikely benign
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
(H491R +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
+1 more
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
(G484S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
(K471E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(G461C +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
(R454H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DDX41
Deletion
(intron variant)
not provided
GLikely benign
DDX41
Deletion
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX41
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DDX41
(L448fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
DDX41
(D444G +1 more)
Single nucleotide variant
(missense variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
(V439L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(V562M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
(P560L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
DDX41-related disorder
GLikely benign
DDX41
(K430N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DDX41
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DDX41
Single nucleotide variant
(synonymous variant)
DDX41-related disorder
+1 more
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
DDX41-related hematologic malignancy predisposition syndrome
GUncertain significance
DDX41
Single nucleotide variant
(intron variant)
DDX41-related disorder
+2 more
GConflicting classifications of pathogenicity
DDX41
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX41
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX41
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DDX41
Single nucleotide variant
(intron variant)
Myelodysplastic syndrome
GPathogenic
DDX41
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
(F409fs +1 more)
Indel
(frameshift variant)
DDX41-related hematologic malignancy predisposition syndrome
GPathogenic
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(synonymous variant)
DDX41-related disorder
GLikely benign
DDX41
(G404D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(T403fs +1 more)
Microsatellite
(frameshift variant)
DDX41-related hematologic malignancy predisposition syndrome
+2 more
GPathogenic/Likely pathogenic
DDX41
(T403P +1 more)
Single nucleotide variant
(missense variant)
DDX41-related disorder
GUncertain significance
DDX41
(T529A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(S400L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(R525H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(G398R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX41
(R522H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Deletion
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX41
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX41
(Y390C +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
DDX41
(N389fs +1 more)
Microsatellite
(frameshift variant)
DDX41-related disorder
GLikely pathogenic
DDX41
(I387T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(E385G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(P384S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX41
(V378I +1 more)
Single nucleotide variant
(missense variant)
DDX41-related disorder
+1 more
GUncertain significance
DDX41
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination