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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
MYOD1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYOD1
(D12E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYOD1
Single nucleotide variant
(synonymous variant)
MYOD1-related disorder
GLikely benign
MYOD1
(D39G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(R41L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYOD1
(P48T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYOD1
(L56F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(S63*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYOD1
(F65Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYOD1
Single nucleotide variant
(synonymous variant)
MYOD1-related disorder
GLikely benign
MYOD1
(E79K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(H88R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYOD1
(D109E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(Y156*)
Single nucleotide variant
(nonsense)
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
GLikely pathogenic
MYOD1
(A162T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(D168N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(D168G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(A169S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(P171S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(P183R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(R188fs)
Duplication
(frameshift variant)
Autosomal dominant centronuclear myopathy
+1 more
GPathogenic
MYOD1
(P185T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(P185S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(P186A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(G195C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(S197F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(A199V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(R203G)
Single nucleotide variant
(missense variant)
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
GUncertain significance
MYOD1
(S204C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
Single nucleotide variant
(intron variant)
MYOD1-related disorder
GBenign
MYOD1
(D212G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(S214R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
Single nucleotide variant
(nonsense)
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
GPathogenic
MYOD1
Single nucleotide variant
(intron variant)
not provided
GBenign
MYOD1
(P240A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYOD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYOD1
(V274M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(S276P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MYOD1
(A285D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYOD1
(E292K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(S293N)
Single nucleotide variant
(missense variant)
MYOD1-related disorder
GBenign
MYOD1
(S293R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(S300T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
(P305Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYOD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
ABCC8, KCNC1
+12 more
Copy number gain
not specified
GUncertain significance
CSRP3, GTF2H1
+26 more
Duplication
Progressive myoclonic epilepsy type 7
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
MYOD1, ABCC8
+3 more
Copy number gain
not provided
GUncertain significance
LDHA, SLC5A12
+67 more
Copy number gain
not provided
GPathogenic
DKK3, DNAJC24
+116 more
Copy number gain
not provided
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
ABCC8, C11orf58
+22 more
Copy number gain
not provided
GUncertain significance
ABCC8, C11orf58
+13 more
Copy number gain
not provided
GUncertain significance
GTF2H1, HPS5
+18 more
Copy number loss
not provided
GUncertain significance
ABCC8, KCNC1
+8 more
Copy number gain
See cases
GUncertain significance
MYOD1, OTOG
Copy number gain
See cases
GUncertain significance
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ASCL3, CEND1
+305 more
Copy number gain
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
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