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Links from MedGen

Items: 1 to 100 of 285

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(P168L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(T110M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Deletion
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(L191fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(A70T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(V153I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(W51*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(L38M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(R4H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(P39R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely pathogenic
HSPB1
(V6F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(E160Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(E40*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(P168S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(A32D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(I179T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(A32S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(R37W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(L46V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(G116D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(T143S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(S98C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(G132V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Duplication
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Deletion
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Deletion
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(A173V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Microsatellite
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(E40V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(M169I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(R75C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(R27H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(H25Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(T121S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(A67T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(D200E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(P14S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(S158fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2F
GPathogenic
HSPB1
(E201G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(P66S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(G122D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(D200V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(S83fs)
Insertion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2F
GPathogenic
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(R20S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
+1 more
GConflicting classifications of pathogenicity
HSPB1
(P52R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Duplication
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GBenign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
(T164I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(A76P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(S43W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Deletion
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(D129N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(A105D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Indel
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(E166D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Deletion
Charcot-Marie-Tooth disease axonal type 2F
GPathogenic
HSPB1
(D107E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+1 more
GConflicting classifications of pathogenicity
HSPB1
(E119del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
GLikely benign
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(S83C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(A61fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(V85I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(S158C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(G193del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(S156del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(W22C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(A92V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
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