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Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937936, LOC129937937
+631 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
ACTRT3, ARL14
+304 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
ACTRT3, CLDN11
+101 more
Copy number gain
See cases
GUncertain significance
ZBBX
(E751D +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBBX
(S772L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(E757K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(V749L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(I707V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(S704L +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBBX
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZBBX
(E687G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LINC01327, SERPINI2
+2 more
Copy number loss
See cases
GUncertain significance
ZBBX
(H667R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(I715M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(S660R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(P695S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(Q628H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(N643K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBBX
(E627G)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZBBX
(T573A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(I521V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(R506I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBBX
(L503V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(E498A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(V495I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBBX
(C523Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(S461C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(V455M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(N448K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(Y409C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(P437L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBBX
(I364M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(L391P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(Q371R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(D331N +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZBBX
(S326F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(A323V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBBX
(P339S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZBBX
(H297Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(S316F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(I308M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(E294G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(E265K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(D259V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZBBX
(A255V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZBBX
(N252D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(N277K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(T242P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(Q268E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(V265A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBBX
(D225G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(R240C +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBBX
(P218L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(N206K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(V196I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(V159I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(L118F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(N110S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(K128N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(K128T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(N48S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(V76L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(S40F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(E64K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(L35S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBBX
(R29Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCHE, GOLIM4
+7 more
Copy number loss
not provided
GPathogenic
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
BCHE, GOLIM4
+7 more
Copy number gain
not specified
GUncertain significance
ACTL6A, ACTRT3
+79 more
Copy number gain
not specified
GPathogenic
SERPINI2, ZBBX
+1 more
Copy number loss
not provided
GUncertain significance
ZBBX
Copy number loss
not provided
GUncertain significance
GOLIM4, PDCD10
+4 more
Copy number loss
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
SLITRK3, ZBBX
+2 more
Copy number loss
See cases
GUncertain significance
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
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