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Items: 85

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
AARS1, ADAT1
+295 more
Copy number loss
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
BCAR1, CFDP1
+75 more
Copy number gain
See cases
GUncertain significance
CLEC18B, FA2H
+23 more
Copy number loss
See cases
GUncertain significance
BCAR1, CFDP1
+60 more
Copy number gain
See cases
GUncertain significance
BCAR1, CFDP1
+58 more
Copy number gain
See cases
GUncertain significance
FA2H, LOC125177351
+12 more
Copy number loss
See cases
GLikely benign
FA2H, LOC130059393
+3 more
Deletion
Hereditary spastic paraplegia 35
GLikely pathogenic
FA2H, LOC130059394
(H69Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GUncertain significance
FA2H, LOC130059394
(H69Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
+2 more
GUncertain significance
LOC130059394, FA2H
(R68G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
+2 more
GConflicting classifications of pathogenicity
FA2H, LOC130059394
(H67Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GUncertain significance
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
LOC130059394, FA2H
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059394
(G64W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GPathogenic
FA2H, LOC130059394
(G64R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(A60T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FA2H, LOC130059394
(S59T)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
Deletion
(inframe_deletion)
Hereditary spastic paraplegia 35
+2 more
GPathogenic
FA2H, LOC130059394
(I58T)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
FA2H, LOC130059394
(I58fs)
Duplication
(frameshift variant)
Spastic paraplegia
GPathogenic
FA2H, LOC130059394
(D57fs)
Microsatellite
(frameshift variant)
Spastic paraplegia
GPathogenic
FA2H, LOC130059394
(A54fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 35
GLikely pathogenic
FA2H, LOC130059394
(Q56fs)
Deletion
(frameshift variant)
Spastic paraplegia
GPathogenic
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
LOC130059394, FA2H
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059394
(E47K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
+2 more
GConflicting classifications of pathogenicity
FA2H, LOC130059394
(G45A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FA2H, LOC130059394
(G45R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(G45W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GLikely pathogenic
FA2H, LOC130059394
(P44fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 35
GPathogenic
FA2H, LOC130059394
(P44Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
FA2H, LOC130059394
(P44S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
FA2H, LOC130059394
(H42Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FA2H, LOC130059394
(H42Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(F39fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 35
GLikely pathogenic
FA2H, LOC130059394
(F39L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GPathogenic
FA2H, LOC130059394
(F39L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GPathogenic
FA2H, LOC130059394
(S38N)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(L36V)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
FA2H, LOC130059394
(D35Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GConflicting classifications of pathogenicity
FA2H, LOC130059394
(Y34*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 35
GPathogenic
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059394
(R32G)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059394
(R28H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(R28C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FA2H, LOC130059394
(V27D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(W26S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(C25del)
Deletion
(inframe_deletion)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(C25W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GUncertain significance
FA2H, LOC130059394
(A24fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
FA2H, LOC130059394
(G23R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GLikely benign
FA2H, LOC130059394
(A22T)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
FA2H, LOC130059394
(Q17R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
LOC130059394, FA2H
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059394
(E15K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FA2H, LOC130059394
(P13L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059394
(S12L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059394
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GBenign
FA2H, LOC130059394
(A8fs)
Deletion
(frameshift variant)
Spastic paraplegia
GPathogenic
FA2H, LOC130059394
(P7L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FA2H, LOC130059394
(P6L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059394
(A4S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GBenign
FA2H, LOC130059394
(M1T)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GPathogenic
FA2H, LOC130059394
(M1V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 35
+1 more
GPathogenic
FA2H, LOC130059394
Single nucleotide variant
(5 prime UTR variant)
FA2H-related disorder
GLikely benign
FA2H, LOC130059394
Single nucleotide variant
Hereditary spastic paraplegia 35
GUncertain significance
FA2H, LOC130059394
Single nucleotide variant
Hereditary spastic paraplegia 35
+2 more
GBenign
FA2H, LOC130059394
Single nucleotide variant
not provided
GBenign
FA2H, LOC130059394
Single nucleotide variant
not provided
GLikely benign
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