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Links from MedGen

Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1
Duplication
(splice acceptor variant)
Progressive myositis ossificans
+1 more
GUncertain significance
MAF, WWOX
Duplication
(inframe_insertion)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
BMPR2
(E376K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACVR1
(A358E)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(intron variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(5 prime UTR variant +1 more)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(intron variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(5 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
(S41F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GConflicting classifications of pathogenicity
ACVR1
(V162M)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
+1 more
GBenign/Likely benign
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GConflicting classifications of pathogenicity
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
ACVR1
Single nucleotide variant
(5 prime UTR variant +1 more)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(5 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(5 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(5 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GBenign
ACVR1
(H47Q)
Single nucleotide variant
(missense variant)
ACVR1-related disorder
+2 more
GBenign/Likely benign
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GBenign/Likely benign
ACVR1
Duplication
(splice donor variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GLikely benign
ACVR1
Single nucleotide variant
(intron variant)
Progressive myositis ossificans
+1 more
GBenign
ACVR1
Single nucleotide variant
(intron variant)
ACVR1-related disorder
+2 more
GBenign/Likely benign
ACVR1
(H274Y)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GBenign
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GBenign
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GBenign
ACVR1
Single nucleotide variant
(synonymous variant)
Progressive myositis ossificans
+1 more
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
+1 more
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Single nucleotide variant
(3 prime UTR variant)
Progressive myositis ossificans
GBenign
ACVR1
Deletion
(3 prime UTR variant)
Progressive myositis ossificans
GUncertain significance
ACVR1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ACVR1
(A15G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ACVR1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ACVR1
(R258G)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GLikely pathogenic
ACVR1
(L196P)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GPathogenic
ACVR1
(R202I)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GPathogenic
ACVR1
(R375P)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GPathogenic
ACVR1
(G328E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ACVR1
(G328W)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GPathogenic
ACVR1
(G328R)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GPathogenic
ACVR1
(R258S)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
GPathogenic
ACVR1
(G356D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ACVR1
(R206H)
Single nucleotide variant
(missense variant)
Progressive myositis ossificans
+4 more
GPathogenic
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