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Items: 1 to 100 of 847

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 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
LOC132090408, LOC132090409
+572 more
Copy number gain
See cases
GPathogenic
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC112486211, LOC112486212
+360 more
Copy number loss
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059506, LOC130059507
+447 more
Copy number loss
See cases
GPathogenic
LOC130059528, LOC130059529
+162 more
Copy number loss
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
ARLNC1, ATMIN
+162 more
Copy number loss
CMIP-related neurodevelopmental disorder
GLikely pathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
ATMIN, BCO1
+20 more
Copy number gain
See cases
GUncertain significance
GAN
Single nucleotide variant
not provided
GLikely benign
GAN
Single nucleotide variant
not provided
GBenign
GAN, LOC130059497
Single nucleotide variant
not provided
GBenign
GAN, LOC130059497
Single nucleotide variant
(5 prime UTR variant)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059497
Single nucleotide variant
(5 prime UTR variant)
Giant axonal neuropathy 1
GUncertain significance
GAN
Single nucleotide variant
(5 prime UTR variant)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant)
Giant axonal neuropathy 1
+1 more
GBenign
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130059498, GAN
Single nucleotide variant
(5 prime UTR variant)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(A2T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(G4S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(S5R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GAN, LOC130059498
(S5T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(S5N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(A6V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(V7fs)
Insertion
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GConflicting classifications of pathogenicity
GAN, LOC130059498
(V7fs)
Deletion
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(S8C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(D9Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(D9E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(synonymous variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(P10S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(P10R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(A13T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(R15S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GConflicting classifications of pathogenicity
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
GAN, LOC130059498
(L16H)
Indel
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(R18Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GAN, LOC130059498
(A19E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(L20R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(S21T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(S22L)
Indel
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
+1 more
GConflicting classifications of pathogenicity
GAN, LOC130059498
(S27P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(S27C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
+1 more
GUncertain significance
GAN, LOC130059498
(R28G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(D31H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
+1 more
GUncertain significance
GAN, LOC130059498
(A32V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(H33P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(V35I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(G38R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(E40*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GPathogenic
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(Q44*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
GAN, LOC130059498
(K45M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(I47M)
Single nucleotide variant
(missense variant +1 more)
Hypotonia
GLikely pathogenic
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(A49T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(A49E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(A50S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
LOC130059498, GAN
(A51P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(S52G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
(S52R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GLikely benign
GAN, LOC130059498
(P53L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
+2 more
GBenign/Likely benign
GAN, LOC130059498
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
(R56K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Deletion
(intron variant)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(intron variant)
Giant axonal neuropathy 1
GUncertain significance
GAN, LOC130059498
Single nucleotide variant
(intron variant)
not specified
GLikely benign
GAN, LOC130059498
Single nucleotide variant
(intron variant)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059498
Single nucleotide variant
(intron variant)
Giant axonal neuropathy 1
GLikely benign
GAN, LOC130059499
Single nucleotide variant
(intron variant)
not provided
GBenign
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