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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
AARS1, AP1G1
+263 more
Copy number loss
See cases
GPathogenic
LOC132090408, LOC132090409
+572 more
Copy number gain
See cases
GPathogenic
AARS1, CALB2
+84 more
Copy number gain
See cases
GUncertain significance
AARS1, ADAT1
+295 more
Copy number loss
See cases
GPathogenic
AARS1, COG4
+27 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
ST3GAL2
(M337T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(R315P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(V296L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(S193N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(Q148H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(P136S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(K120E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(M114T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ST3GAL2
(M114L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(M102T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(G91S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ST3GAL2
(R74H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(R64W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(L50P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(T45M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(G40E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(G40R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ST3GAL2
(P35A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
COG4, FCSK
+8 more
Deletion
COG4-congenital disorder of glycosylation
GPathogenic
PRMT7, PRSS54
+195 more
Duplication
Chromosome 16q12 duplication syndrome
GLikely pathogenic
COG4, AARS1
+27 more
Deletion
not provided
GPathogenic
DDX19B, FCSK
+8 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
AARS1, AP1G1
+51 more
Deletion
Immunodeficiency
GUncertain significance
AARS1, CLEC18C
+10 more
Copy number gain
not specified
GUncertain significance
AARS1, AP1G1
+40 more
Copy number loss
not provided
GPathogenic
AARS1, COG4
+5 more
Copy number gain
not provided
GUncertain significance
AARS1, CALB2
+21 more
Copy number gain
not provided
GUncertain significance
CYB5B, DDX19A
+127 more
Deletion
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
TXNL4B, UTP4
+59 more
Copy number loss
See cases
GPathogenic
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
HYDIN, IL34
+10 more
Copy number gain
not specified
GUncertain significance
LOC400541, PDPR
+10 more
Copy number gain
not specified
GUncertain significance
AARS1, AP1G1
+37 more
Duplication
Immunodeficiency
GUncertain significance
AARS1, COG4
+10 more
Copy number loss
not provided
GUncertain significance
AARS1, ACD
+268 more
Copy number gain
not provided
Gnot provided
DDX19A, DDX19B
+6 more
Copy number gain
Abnormal peripheral nervous system morphology
GUncertain significance
IL34, ST3GAL2
+4 more
Copy number gain
not provided
GUncertain significance
CALB2, CHST4
+11 more
Copy number gain
not provided
GUncertain significance
COG4, DDX19A
+6 more
Copy number gain
not provided
GUncertain significance
AARS1, COG4
+10 more
Copy number gain
not provided
GUncertain significance
AARS1, ACD
+194 more
Copy number gain
not provided
GPathogenic
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+292 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+174 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADGRG5, CFAP263
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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