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Links from MedGen

Items: 1 to 100 of 546

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KBTBD13
(D131A)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(V320fs)
Deletion
(frameshift variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(V204M)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(W12G)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(A150V)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(E47K)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(A456fs)
Deletion
(frameshift variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(T61M)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(G219A)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(R49C)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
+1 more
GUncertain significance
KBTBD13
(L65P)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(V288M)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(V320L)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(G51A)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(V160fs)
Duplication
(frameshift variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
Insertion
(inframe_insertion)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(F128fs)
Microsatellite
(frameshift variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(G297fs)
Deletion
(frameshift variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(Y249C)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(R399H)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(A147T)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(T251P)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
Duplication
(inframe_insertion)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(V356L)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(G14S)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(V48A)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(S453W)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Duplication
(inframe_insertion)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(S38C)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(R95C)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(D120E)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(G391R)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(F386L)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(A46P)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(D111Y)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(D181Y)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(E417Q)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(E266V)
Indel
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(S161C)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(N209Y)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(P431L)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(P233T)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(W330R)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
+1 more
GLikely benign
KBTBD13
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KBTBD13
(F87L)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(R59Q)
Indel
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(G117A)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(G56R)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(A205V)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(L441Q)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(T454I)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
+1 more
GUncertain significance
KBTBD13
(A396V)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
+1 more
GUncertain significance
KBTBD13
(E47G)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(E98*)
Single nucleotide variant
(nonsense)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(R350C)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(V48L)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(P194S)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(G67S)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(A296T)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(F58L)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
+1 more
GUncertain significance
KBTBD13
(D234N)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(A262T)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(A334D)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
(Y342C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(G384S)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(V9L)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GUncertain significance
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
KBTBD13
(S124G)
Single nucleotide variant
(missense variant)
Nemaline myopathy 6
GBenign
KBTBD13
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 6
GLikely benign
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