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Items: 1 to 100 of 434

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
BRD8, C5orf15
+230 more
Copy number loss
See cases
GPathogenic
BRD8, CDC23
+236 more
Copy number gain
See cases
GPathogenic
ECSCR, EGR1
+224 more
Copy number gain
See cases
GPathogenic
PKD2L2-DT, MYOT
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar myopathy 3
GUncertain significance
PKD2L2-DT, MYOT
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar myopathy 3
+2 more
GBenign/Likely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar myopathy 3
+2 more
GBenign/Likely benign
MYOT, PKD2L2-DT
Duplication
(intron variant)
not provided
GLikely benign
MYOT, PKD2L2-DT
Deletion
(intron variant)
not provided
GBenign
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
not provided
GBenign
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
not provided
GBenign
MYOT, PKD2L2-DT
Microsatellite
(intron variant)
not provided
GBenign
MYOT, PKD2L2-DT
Microsatellite
(intron variant)
not provided
GBenign
MYOT, PKD2L2-DT
Microsatellite
(intron variant)
not provided
GBenign
MYOT, PKD2L2-DT
Microsatellite
(intron variant)
not provided
GBenign
MYOT, PKD2L2-DT
Microsatellite
(intron variant)
not provided
GLikely benign
MYOT, PKD2L2-DT
Microsatellite
(intron variant)
not provided
GBenign
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar myopathy 3
+2 more
GUncertain significance
MYOT, PKD2L2-DT
Deletion
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
+2 more
GUncertain significance
MYOT, PKD2L2-DT
(M1L)
Single nucleotide variant
(missense variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(E5K)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(R6G)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(R6C)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(R6H)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(I11T)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(Q12E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(C17S)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(C17R)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(C17Y)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(G18V)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(L21M)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
PKD2L2-DT, MYOT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(P23T)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(P23S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(P26S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYOT, PKD2L2-DT
(T28I)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
PKD2L2-DT, MYOT
(S29F)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(S33I)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(K36fs)
Deletion
(frameshift variant +1 more)
Myofibrillar myopathy 3
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(S39F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
MYOT, PKD2L2-DT
(I40V)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
PKD2L2-DT, MYOT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
+2 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(I41T)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(Q43H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYOT, PKD2L2-DT
(R45H)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(R45L)
Single nucleotide variant
(intron variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(Q46R)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(Q46L)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T48R)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T48I)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(E49Q)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(E49D)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(missense variant +1 more)
Limb-Girdle Muscular Dystrophy, Dominant
+3 more
GBenign/Likely benign
MYOT, PKD2L2-DT
(R51G)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
PKD2L2-DT, MYOT
(S56del)
Microsatellite
(inframe_indel +2 more)
not provided
GUncertain significance
MYOT, PKD2L2-DT
(S55F)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
+11 more
GPathogenic/Likely pathogenic
MYOT, PKD2L2-DT
(S56L)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T57fs)
Deletion
(frameshift variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T57I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
MYOT, PKD2L2-DT
(S59N)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(S60F)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
+2 more
GPathogenic/Likely pathogenic
MYOT, PKD2L2-DT
(S60C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
MYOT, PKD2L2-DT
(H61P)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYOT, PKD2L2-DT
(T63I)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(M64K)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(A71G)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(Q74K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(no sequence alteration +1 more)
Myofibrillar myopathy 3
+2 more
GBenign
MYOT, PKD2L2-DT
(Q75H)
Single nucleotide variant
(missense variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(G78S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(N80S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+2 more
GBenign
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(R84S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(V85A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(T86K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+1 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(A94T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
MYOT, PKD2L2-DT
(S95I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GPathogenic
MYOT, PKD2L2-DT
(I100V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+1 more
GUncertain significance
PKD2L2-DT, MYOT
(P105L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
MYOT, PKD2L2-DT
(D106E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(N108T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+5 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(I112N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+2 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(A115S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+4 more
GConflicting classifications of pathogenicity
PKD2L2-DT, MYOT
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+2 more
GBenign/Likely benign
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