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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYORG
(A234fs)
Microsatellite
(frameshift variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
(W318C)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(Y281H)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(E625*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
(Y596*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
(Y490C)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
+1 more
GUncertain significance
MYORG
(P664L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
(D53E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MYORG
(F385Y)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
+1 more
GBenign
MYORG
(P536L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
(G545D)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
+1 more
GUncertain significance
MYORG
(M35V)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
Microsatellite
(inframe_deletion)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
MYORG
(G64E)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(R611W)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
Duplication
(inframe_insertion)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
MYORG
(W249C)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(L660Q)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(D434H)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(T476N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYORG
(I656T)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
MYORG
(L113R)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(L622P)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(A373D)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(Y477*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
(W229C)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
Deletion
(inframe_deletion)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(W443*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
Single nucleotide variant
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GPathogenic
MYORG
(D354del)
Microsatellite
(inframe_deletion)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(F411fs)
Deletion
(frameshift variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GPathogenic
MYORG
(Q445*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
Indel
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(Q203*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
(S232L)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GUncertain significance
MYORG
(R441G)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GLikely pathogenic
MYORG
(W75*)
Single nucleotide variant
(nonsense)
Basal ganglia calcification, idiopathic, 7, autosomal recessive
GPathogenic
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