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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935070, LOC129935071
+162 more
Copy number loss
See cases
GPathogenic
KLHL41
(S3F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
KLHL41
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 9
+1 more
GBenign/Likely benign
KLHL41
(D28fs)
Indel
(frameshift variant)
not provided
GLikely pathogenic
KLHL41
(I66T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
KLHL41
(A69V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KLHL41
(G133D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KLHL41
(L145del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
KLHL41
(Q173H)
Single nucleotide variant
(missense variant)
Nemaline myopathy 9
+1 more
GUncertain significance
KLHL41
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 9
+1 more
GBenign/Likely benign
KLHL41
(R205Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KLHL41
(V218M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KLHL41
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 9
+1 more
GBenign/Likely benign
KLHL41
(K251E)
Single nucleotide variant
(missense variant)
Nemaline myopathy 9
+1 more
GUncertain significance
KLHL41
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 9
+1 more
GLikely benign
KLHL41
(A271T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
KLHL41
(L288R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
KLHL41
(L305F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GBenign
KLHL41
Microsatellite
(intron variant)
not provided
+1 more
GBenign
KLHL41
(V396L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KLHL41
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GBenign
KLHL41
Microsatellite
(intron variant)
not provided
GLikely benign
KLHL41
Duplication
(intron variant)
not provided
GBenign
KLHL41
Duplication
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GBenign
KLHL41
(M481V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
KLHL41
(K521R)
Single nucleotide variant
(missense variant)
Nemaline myopathy 9
+1 more
GUncertain significance
KLHL41
Single nucleotide variant
(synonymous variant)
Nemaline myopathy 9
+1 more
GLikely benign
KLHL41
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
KLHL41
(W569*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GBenign
KLHL41
Duplication
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLHL41
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
KLHL41
(Y587H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KLHL41
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KLHL41
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KLHL41
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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