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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC, FLNC-AS1
(W2677* +1 more)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy
+5 more
GPathogenic
DNM2
(F317L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate B
+2 more
GUncertain significance
LDB3
(P243L +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
GUncertain significance
DES
(R16C)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy
GPathogenic
DES
(K449T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DES
(A357P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DES
Single nucleotide variant
(intron variant)
Desmin-related myofibrillar myopathy
+2 more
GBenign
DES
(A213V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
BAG3
(R258W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
MYOT, PKD2L2-DT
(S60C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
LDB3, LOC110121486
(A165V +1 more)
Single nucleotide variant
(missense variant +1 more)
LDB3-related condition
+6 more
GConflicting classifications of pathogenicity
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