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Links from Gene

Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH24
(A697T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(S461L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(S783A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R26Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(V634I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(A398V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(G583S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(W599L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R316Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(V91I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R32Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(S297N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(T248M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(Q220K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(P819T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(P778S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(P758S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R74Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(P686S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(A641T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(A635T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CDH24
(R581H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(D509H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(P479S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CDH24
(R442C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R362C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(V358E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(Y349C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
CDH24
(V245E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(P426L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R217Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R43Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R626L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(S267C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(E33G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CDH24
(G718S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CDH24
(R282Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(A565V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(P564L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(V165G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(A119V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL52, MYH6
+77 more
Duplication
Lysinuric protein intolerance
+1 more
GUncertain significance
CDH24
(G85R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R332C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R501W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(E427K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(I309F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R362H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R78H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(G792D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(G301E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(A710V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(I556T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(D509N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(V393I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R20H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R625Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R548H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(T341I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(Q693E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(A616G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R32W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(Q425L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(A738T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(R725W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(F266V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH24
(G455D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD4, ACIN1
+197 more
Copy number gain
Seizure
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
PRMT5, PSMB11
+60 more
Copy number gain
14q11.2 microduplication
GLikely pathogenic
C14orf93, PSMB11
+6 more
Copy number gain
not provided
GUncertain significance
AKAP6, MDP1
+187 more
Copy number gain
not provided
Gnot provided
ABHD4, ACIN1
+187 more
Copy number gain
not provided
GPathogenic
SLC22A17, SLC7A7
+47 more
Copy number gain
not provided
GLikely pathogenic
ARHGEF40, BCL2L2
+152 more
Copy number gain
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
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
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
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
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