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Items: 1 to 100 of 249

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
TRD-GTC2-10, TRD-GTC2-9
+906 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+892 more
Copy number gain
See cases
GPathogenic
HNF1A, HNF1A-AS1
+786 more
Copy number gain
See cases
GPathogenic
HSPB8
Single nucleotide variant
not provided
GBenign
HSPB8
Single nucleotide variant
not provided
GBenign
HSPB8
Single nucleotide variant
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GBenign
HSPB8
Single nucleotide variant
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2L
+2 more
GBenign
HSPB8
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
HSPB8
(D3E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(G4S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(G4D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(Q5R)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 2A
+3 more
GConflicting classifications of pathogenicity
HSPB8
(M6T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(S9P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
HSPB8
(S9F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(C10G)
Indel
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(H11P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(H11R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(R15C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(R15H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(L16R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
+2 more
GBenign/Likely benign
HSPB8
(R17C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(R17P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(R17H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(R18G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
(R18*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(P20S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(R22Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(R29C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSPB8
(R29S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSPB8
(R29H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(L31M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(D32G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(D32A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(D38E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
HSPB8
(P39L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
(P41S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(D42G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPB8
(D43N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(T45R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(A46D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HSPB8
(S47C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HSPB8
(W48R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(W48*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
HSPB8
(D50N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPB8
(D50V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPB8
(D50E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(A52D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
(L53V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPB8
(R55C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HSPB8
(R55H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
(L56I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GBenign/Likely benign
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(A59T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
(G62fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(G62D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(T63I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(R65K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
+2 more
GLikely benign
HSPB8
(G67V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(M68I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(P70S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
HSPB8
(R71W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(R71Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(G72D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(P73L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(T76I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(A77T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
(A77S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
(R78M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
HSPB8
(G80A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(V81M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
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