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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(P23S)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
+1 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(K36fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
MYOT-related condition
+3 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(I41T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(Q43H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(missense variant +1 more)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GBenign/Likely benign
MYOT, PKD2L2-DT
(T57I)
Single nucleotide variant
(intron variant +1 more)
Myofibrillar myopathy 3
+1 more
GPathogenic
MYOT, PKD2L2-DT
(S60F)
Single nucleotide variant
(missense variant +1 more)
MYOT-related condition
+2 more
GPathogenic/Likely pathogenic
MYOT, PKD2L2-DT
(S60C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
MYOT, PKD2L2-DT
Single nucleotide variant
(no sequence alteration +1 more)
not specified
+2 more
GBenign
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant +2 more)
Myofibrillar myopathy 3
+2 more
GBenign
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(T86K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
MYOT, PKD2L2-DT
(N108T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(A115S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Limb-Girdle Muscular Dystrophy, Dominant
+4 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
MYOT-related condition
+3 more
GBenign/Likely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(E34Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
MYOT-related condition
+4 more
GBenign/Likely benign
MYOT, PKD2L2-DT
(E155A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYOT, PKD2L2-DT
(R178H +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Limb-Girdle Muscular Dystrophy, Dominant
+6 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(R188I +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+1 more
GUncertain significance
PKD2L2-DT, MYOT
(G191R +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+1 more
GBenign/Likely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(G91D +1 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Dominant
+5 more
GBenign/Likely benign
MYOT, PKD2L2-DT
(S210L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
MYOT, PKD2L2-DT
Deletion
(intron variant)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(R219Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(V227I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYOT, PKD2L2-DT
Deletion
(intron variant)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(I261T +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(D270H +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+1 more
GUncertain significance
PKD2L2-DT, MYOT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKD2L2-DT, MYOT
(V312L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Dominant
+5 more
GBenign/Likely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Dominant
+4 more
GBenign/Likely benign
MYOT, PKD2L2-DT
(E362fs +2 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(P376S +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+1 more
GUncertain significance
PKD2L2-DT, MYOT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
MYOT, PKD2L2-DT
(D286E +1 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Dominant
+3 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(T403S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYOT, PKD2L2-DT
(T422I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
+2 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(A429G +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(C434R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PKD2L2-DT, MYOT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
+3 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(N467K +2 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Dominant
+4 more
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(L471F +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(E296G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MYOT, PKD2L2-DT
(R485C +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+1 more
GConflicting classifications of pathogenicity
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