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Links from Gene

Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OXA1L
(T375M)
Single nucleotide variant
(missense variant)
OXA1L-related disorder
GLikely benign
OXA1L
(L54P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(G210D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OXA1L
(V82A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R376H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OXA1L
(V258G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(A233G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(V160M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(W141S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(E93D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(F55S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(P46R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OXA1L
(L40F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R20P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R20S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(M6T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R347H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R339C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(A314T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
Single nucleotide variant
(synonymous variant)
OXA1L-related disorder
GLikely benign
OXA1L
Single nucleotide variant
(intron variant)
OXA1L-related disorder
GLikely benign
OXA1L
Single nucleotide variant
(3 prime UTR variant)
OXA1L-related disorder
GLikely benign
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
OXA1L
(L267V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OXA1L
(W31S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
OXA1L
(R339H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R20G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(A54V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OXA1L
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
OXA1L
(M3V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(A112T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OXA1L
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
OXA1L
(Y263C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R152C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(L15F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R376C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(M385T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R381C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
OXA1L
(R182Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R9P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(I159V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(A186S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(G210V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(N323S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(Y428H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(F30L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OXA1L
(V25I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(L32P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OXA1L
(C7W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(R358Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OXA1L
(S321A)
Single nucleotide variant
(missense variant)
Myoepithelial tumor
GUncertain significance
ABHD4, ACIN1
+197 more
Copy number gain
Seizure
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
OXA1L
Duplication
(frameshift variant)
not provided
GLikely benign
PRMT5, PSMB11
+60 more
Copy number gain
14q11.2 microduplication
GLikely pathogenic
OXA1L
(V91I)
Single nucleotide variant
(missense variant)
not provided
GBenign
OXA1L
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABHD4, DAD1
+5 more
Deletion
not provided
GUncertain significance
AKAP6, MDP1
+187 more
Copy number gain
not provided
Gnot provided
OR10G3, OXA1L
+33 more
Copy number loss
not provided
GPathogenic
ABHD4, ACIN1
+187 more
Copy number gain
not provided
GPathogenic
OXA1L
(M317I)
Single nucleotide variant
(missense variant)
not provided
GBenign
OXA1L, SLC7A7
Copy number gain
not provided
GUncertain significance
SLC22A17, SLC7A7
+47 more
Copy number gain
not provided
GLikely pathogenic
ARHGEF40, BCL2L2
+152 more
Copy number gain
not provided
GPathogenic
SLC7A7, MMP14
+9 more
Copy number loss
not provided
GUncertain significance
OXA1L
(C147F)
Single nucleotide variant
(missense variant)
Mitochondrial disease
GPathogenic
OXA1L
(S110fs)
Duplication
(frameshift variant)
Mitochondrial disease
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
OXA1L, SLC7A7
Microsatellite
(inframe_insertion)
not specified
GBenign
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
OR5AU1, OR6S1
+164 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+149 more
Copy number gain
See cases
GPathogenic
OXA1L
(T340A)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
ABHD4, ARHGEF40
+242 more
Copy number gain
See cases
GUncertain significance
LOC124958010, LOC124958011
+529 more
Copy number gain
See cases
GLikely pathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
OXA1L, SLC7A7
Deletion
Lysinuric protein intolerance
GPathogenic
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