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Links from Gene

Items: 1 to 100 of 249

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPB8
(T76I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CCDC60, FBXO21
+18 more
Copy number loss
not specified
GLikely pathogenic
HSPB8
Single nucleotide variant
(synonymous variant)
HSPB8-related disorder
GLikely benign
HSPB8
Single nucleotide variant
(3 prime UTR variant)
HSPB8-related disorder
GLikely benign
HSPB8
(Q130E)
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
(S122P)
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
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
(V171I)
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
(Q170H)
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
(D32G)
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
(S9F)
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
(G62D)
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
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(H11P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
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
GLikely benign
HSPB8
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(S175P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(G80A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(R18G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
(L31M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
(S180N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
Duplication
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Duplication
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Deletion
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(L53V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPB8
(T176K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPB8
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(Q170K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(T194N)
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
(S180R)
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
(K106R)
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
(E94G)
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
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
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(P73L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(D189G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(A147T)
Single nucleotide variant
(missense 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
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
(P89fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
Single nucleotide variant
(intron 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
(R29H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(A59T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB8
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HSPB8
(Q170fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2L
GPathogenic
HSPB8
(W48*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
(T87I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPB8
(D50N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPB8
(Q144E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
+1 more
GUncertain significance
HSPB8
(Q129P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPB8
(Y118*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GUncertain significance
HSPB8
(Q170fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely pathogenic
HSPB8
Single nucleotide variant
not provided
GLikely benign
HSPB8
(V149A)
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
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
HSPB8
Single nucleotide variant
(intron 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
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2L
GLikely benign
PXN, RAB35
+24 more
Copy number gain
not specified
GLikely pathogenic
HSPB8
(P173L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(H125R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(R18*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(P187S)
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
(P41S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(G133S)
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
(R71Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(E131K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(W48R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(D50E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(P151S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2L
GUncertain significance
HSPB8
(P160L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPB8
(R15H)
Single nucleotide variant
(missense variant)
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
AACS, ABCB9
+135 more
Copy number gain
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
HSPB8
Single nucleotide variant
(intron variant)
not provided
GBenign
HSPB8
Single nucleotide variant
not provided
GBenign
HSPB8
Microsatellite
(3 prime UTR variant)
not provided
GBenign
HSPB8
Single nucleotide variant
not provided
GBenign
HSPB8
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
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