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Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+903 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
MTNR1A, NAF1
+535 more
Copy number gain
See cases
GPathogenic
LOC129993482, LOC129993483
+509 more
Copy number loss
See cases
GPathogenic
LOC129993424, LOC129993425
+485 more
Copy number loss
See cases
GPathogenic
MIR4455, MIR548T
+466 more
Copy number loss
See cases
GPathogenic
LOC129993469, LOC129993470
+455 more
Copy number loss
See cases
GPathogenic
LOC129993480, LOC129993481
+451 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+386 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+399 more
Copy number loss
See cases
GPathogenic
SAP30-DT, SCRG1
+401 more
Copy number gain
See cases
GUncertain significance
LOC126807230, LOC126807231
+383 more
Copy number loss
See cases
GPathogenic
UFSP2, VEGFC
+375 more
Copy number loss
See cases
GPathogenic
MIR4455, MIR548T
+369 more
Copy number gain
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+372 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+322 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
FLJ38576, FRG1
+339 more
Copy number loss
See cases
GPathogenic
ACSL1, AGA
+324 more
Copy number loss
See cases
GPathogenic
ACSL1, AGA
+293 more
Copy number loss
See cases
GLikely pathogenic
LOC132089100, LOC132089101
+293 more
Copy number loss
See cases
GPathogenic
LOC126807226, LOC126807227
+285 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+287 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+286 more
Copy number loss
See cases
GPathogenic
LOC132089106, LOC132089107
+282 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+267 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+275 more
Copy number gain
See cases
GLikely pathogenic
ACSL1, ANKRD37
+275 more
Copy number loss
See cases
GPathogenic
WWC2, WWC2-AS1
+274 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+193 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+193 more
Copy number loss
See cases
GPathogenic
CFAP97, ACSL1
+148 more
Copy number loss
See cases
GUncertain significance
ACSL1, ANKRD37
+256 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+223 more
Copy number gain
See cases
GLikely pathogenic
ACSL1, ANKRD37
+165 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+241 more
Copy number loss
See cases
GPathogenic
CLDN22, CLDN24
+6 more
Copy number gain
See cases
GUncertain significance
CLDN24
(A202V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(V153I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CLDN24
(K143R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(V137I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(V135L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(W127R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(I120N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(K115T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(I107T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CLDN24
(S69T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(Q63R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(W51C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN24
(R6T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT1, FAT4
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ACSL1
+85 more
Copy number loss
not specified
GPathogenic
ACSL1, ADAM29
+34 more
Copy number loss
not specified
GPathogenic
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
ENPP6, F11
+68 more
Copy number loss
not provided
GPathogenic
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
GLRA3, GPM6A
+27 more
Copy number loss
not provided
GLikely pathogenic
AADAT, ACSL1
+69 more
Copy number gain
not provided
GPathogenic
MTNR1A, PDLIM3
+36 more
Deletion
not provided
GPathogenic
CDKN2AIP, CLDN22
+7 more
Deletion
not provided
GPathogenic
ACSL1, ANKRD37
+37 more
Copy number loss
not provided
GPathogenic
AADAT, ACSL1
+69 more
Copy number loss
See cases
GPathogenic
CYP4V2, HAND2
+93 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+50 more
Copy number loss
FETAL DEMISE
GPathogenic
ACSL1, ANKRD37
+37 more
Copy number loss
not specified
GPathogenic
ACSL1, ADAM29
+46 more
Copy number gain
not specified
GPathogenic
AADAT, ACSL1
+86 more
Copy number gain
not specified
GPathogenic
CFAP96, CFAP97
+36 more
Copy number loss
Atypical behavior
+1 more
GLikely pathogenic
AADAT, ADAM29
+35 more
Copy number loss
See cases
GPathogenic
CDKN2AIP, CLDN22
+7 more
Copy number loss
not provided
GUncertain significance
ACSL1, ANKRD37
+32 more
Copy number gain
not provided
GPathogenic
ACSL1, ANKRD37
+37 more
Copy number loss
not provided
GPathogenic
SCRG1, SH3RF1
+79 more
Copy number loss
not provided
GPathogenic
MTNR1A, PDLIM3
+37 more
Copy number loss
not provided
GLikely pathogenic
ACSL1, ANKRD37
+37 more
Copy number loss
not provided
GPathogenic
AADAT, ABCE1
+163 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+131 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+65 more
Copy number gain
not provided
GPathogenic
ACSL1, AGA
+40 more
Copy number loss
not provided
GPathogenic
AADAT, ACSL1
+70 more
Copy number loss
not provided
GPathogenic
CDKN2AIP, CLDN22
+10 more
Copy number loss
not provided
GUncertain significance
CDKN2AIP, CLDN22
+10 more
Copy number loss
not provided
GUncertain significance
CLDN22, FAM149A
+48 more
Copy number loss
not provided
GPathogenic
RWDD4, SAP30
+54 more
Copy number loss
not provided
GPathogenic
ACSL1, ANKRD37
+37 more
Copy number gain
not provided
GPathogenic
ACSL1, AGA
+45 more
Copy number loss
not provided
GPathogenic
ACSL1, ADAM29
+47 more
Copy number loss
not provided
GPathogenic
AADAT, ACSL1
+63 more
Copy number loss
not provided
GPathogenic
AADAT, ACSL1
+92 more
Copy number gain
not provided
GPathogenic
ANKRD37, ACSL1
+43 more
Deletion
not provided
GPathogenic
AADAT, ACSL1
+102 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
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