U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOL1
+293 more
Copy number loss
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOBEC3A
+177 more
Copy number loss
See cases
GPathogenic
ANKRD54, BAIAP2L2
+122 more
Copy number loss
See cases
GPathogenic
LOC130067459, LOC130067460
+273 more
Copy number gain
See cases
GPathogenic
SLC16A8
(E502K)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC16A8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC16A8
(A500P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC16A8
(P497L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC16A8
(I67T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC16A8
(P488S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC16A8
(S483fs)
Deletion
(frameshift variant)
not provided
GBenign
SLC16A8
(S57R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC16A8
(G24R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC16A8
(P16L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC16A8
(R10C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC16A8
(I412L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SLC16A8
(L402V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SLC16A8
(R401C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SLC16A8
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC16A8
(P397S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(L393F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(V387L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SLC16A8
(M359T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(Y357F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(L346F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(S337G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(L332F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(R316Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(A305E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(V298L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(V295A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(A289T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(T286I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(A257T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(P234L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(L227P)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SLC16A8
(E219K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(G214R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(Q166L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(A159V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(R142Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(R141Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(I132M)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
SLC16A8
(N126K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(A124G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(A124P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130067398, SLC16A8
(T71M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130067398, SLC16A8
(L68F)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC16A8
(S55G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(G53S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(A52D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(A52T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(V39L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(V27A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(G23D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(G15D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(D14N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC16A8
(R7P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLA2G6, SLC16A8
+3 more
Deletion
not provided
GPathogenic
ANKRD54, BAIAP2L2
+50 more
Deletion
Infantile neuroaxonal dystrophy
+2 more
GConflicting classifications of pathogenicity
ANKRD54, BAIAP2L2
+29 more
Deletion
not provided
GPathogenic
ACO2, ADSL
+132 more
Duplication
Adenylosuccinate lyase deficiency
GUncertain significance
ANKRD54, C22orf23
+13 more
Copy number loss
Waardenburg syndrome type 2E
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
SH3BP1, CSNK1E
+25 more
Copy number loss
not provided
GPathogenic
NPTXR, FAM227A
+20 more
Copy number loss
See cases
GLikely pathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
ANKRD54, APOBEC3A
+76 more
Copy number gain
See cases
GLikely pathogenic
ANKRD54, BAIAP2L2
+31 more
Copy number loss
See cases
GPathogenic
ANKRD54, BAIAP2L2
+41 more
Copy number loss
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
BAIAP2L2, C22orf23
+13 more
Copy number gain
See cases
GLikely pathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination