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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FHL1
(K20R +2 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, reducing body, X-linked, early-onset, severe
+5 more
GUncertain significance
FHL1
(Q37R +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked myopathy with postural muscle atrophy
+1 more
GUncertain significance
FHL1
(R59C +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked myopathy with postural muscle atrophy
+1 more
GUncertain significance
FHL1
(T93N +2 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, reducing body, X-linked, childhood-onset
+6 more
GConflicting classifications of pathogenicity
FHL1
(A69T +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
FHL1
(A69G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FHL1
(N85del +2 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
FHL1
(R111Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FHL1
(K147E +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked myopathy with postural muscle atrophy
+6 more
GUncertain significance
FHL1
(W122C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FHL1
(T152S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FHL1
(F158fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
FHL1
(C162W +2 more)
Single nucleotide variant
(missense variant +1 more)
FHL1-related disorder
+3 more
GUncertain significance
FHL1
(V179M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FHL1
(F231S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
FHL1
(A319T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FHL1
(V257M +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
FHL1
(Q268H +2 more)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+2 more
GUncertain significance
FHL1
(K279N +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
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