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Items: 1 to 100 of 1106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
ABCB6, ANKZF1
+77 more
Copy number gain
See cases
GUncertain significance
ABCB6, ACSL3
+195 more
Copy number loss
See cases
GPathogenic
DES, DES-LCR
+14 more
Duplication
Neuronopathy, distal hereditary motor, autosomal recessive 5
GUncertain significance
DES, DES-LCR
Single nucleotide variant
not provided
GLikely benign
DES, DES-LCR
Single nucleotide variant
not provided
GBenign
DES, DES-LCR
Single nucleotide variant
not provided
GBenign
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar Myopathy, Dominant
+4 more
GBenign/Likely benign
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DES, DES-LCR
Duplication
(5 prime UTR variant)
not provided
+1 more
GBenign
DES, DES-LCR
Insertion
(5 prime UTR variant)
not provided
GBenign
DES
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
DES
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GUncertain significance
DES
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
DES
(M1V)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+2 more
GConflicting classifications of pathogenicity
DES
(M1T)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
GLikely pathogenic
DES
(S2I)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GPathogenic/Likely pathogenic
DES
(Q3E)
Single nucleotide variant
(missense variant)
DES-related disorder
GUncertain significance
DES
(Q3*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DES
(Q3R)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
DES
(A4T)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(A4D)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
+2 more
GLikely benign
DES
(Y5*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GUncertain significance
DES
(S6W)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(S6L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Myofibrillar Myopathy, Dominant
+7 more
GConflicting classifications of pathogenicity
DES
(S7F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(S8G)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(Q9E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(R10C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DES
(R10S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(R10H)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DES
(V11M)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(V11L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(V11A)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(S12F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
Deletion
(splice donor variant)
Megacolon
GUncertain significance
DES
(S13P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DES
(S13Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(S13F)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+2 more
GPathogenic
DES
(Y14H)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(R15G)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(R15C)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(R15S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
(R16S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(R16C)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy
GPathogenic
DES
(T17P)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(T17S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(T17N)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DES
(G19R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DES
(G20R)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(G20E)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
DES
(A21T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(A21D)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DES
(P22R)
Single nucleotide variant
(missense variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+2 more
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
DES-related disorder
+2 more
GConflicting classifications of pathogenicity
DES
(G23A)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(G23D)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
Insertion
(inframe_insertion)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(P25A)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(P25L)
Inversion
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
Single nucleotide variant
(no sequence alteration)
not specified
GBenign
DES
Single nucleotide variant
(synonymous variant)
Myofibrillar Myopathy, Dominant
+7 more
GBenign
DES
(L26H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DES
(G27R)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(G27S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
DES
(G27D)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(S28F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
DES
Deletion
(inframe_indel)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(P29R)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(P29L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
(S31C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(S31R)
Single nucleotide variant
(missense variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+4 more
GUncertain significance
DES
Single nucleotide variant
(no sequence alteration)
not specified
GBenign
DES
Single nucleotide variant
(synonymous variant)
Myofibrillar Myopathy, Dominant
+7 more
GBenign
DES
(P33S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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