U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937460, LOC129937461
+571 more
Copy number loss
See cases
GPathogenic
LOC129937605, LOC129937606
+484 more
Copy number gain
See cases
GUncertain significance
ABTB1, ACAD9
+124 more
Copy number loss
See cases
GPathogenic
LOC129937518, LOC129937519
+248 more
Copy number loss
See cases
GLikely pathogenic
PODXL2
(G2D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(R3W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(R9W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(V22G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(P77R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(T133A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(T133S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(N141D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(G194E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(Q202R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(A217T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(R221K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PODXL2
(G226R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(S230L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(P250A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(T252I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(A265S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(A265V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(A272S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(E280A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(T290A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(F309L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(P321A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(L326P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(S331L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(P335Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(A337G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(D340N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(G351R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(Q357R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(Q358R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PODXL2
(G362E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(Q377K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(S426N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(V456M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(T484A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(A489P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(R495C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(R495G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(T500A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(V503M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PODXL2
(V535M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937491, PODXL2
(G538S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937491, PODXL2
(R542H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937491, PODXL2
(D550V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937492, PODXL2
(M564I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937492, PODXL2
(Q565H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937492, PODXL2
(P569S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937492, PODXL2
(S570R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937492, PODXL2
(G588A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937492, PODXL2
(G589S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937492, PODXL2
(G589D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129937492, PODXL2
(E594D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABTB1, ALDH1L1
+26 more
Copy number loss
not specified
GUncertain significance
ABTB1, KBTBD12
+7 more
Deletion
not provided
GUncertain significance
ABTB1, ACAD9
+38 more
Duplication
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
ABTB1, ACAD11
+109 more
Deletion
Alkaptonuria
GPathogenic
ABTB1, ACAD9
+59 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
ABTB1, ADCY5
+69 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination