U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 898

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF
(W1954C +13 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
Duplication
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
Microsatellite
(inframe_deletion)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
Deletion
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+1 more
GLikely pathogenic
DYSF
(A296fs +3 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+1 more
GUncertain significance
DYSF
(R386* +3 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
(W1464* +13 more)
Single nucleotide variant
(nonsense)
Miyoshi muscular dystrophy 1
+1 more
GPathogenic/Likely pathogenic
DYSF
(Q120P +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
(N1875D +13 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
(T1215A +7 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF, LOC122787136
Copy number loss
Autosomal recessive limb-girdle muscular dystrophy type 2B
GPathogenic
DYSF
Copy number loss
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
(R1715P +13 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
(L1945P +13 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
(M1114fs +7 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
(P1689L +13 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(L2035F +13 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GUncertain significance
DYSF
(D1841fs +13 more)
Insertion
(frameshift variant)
Miyoshi muscular dystrophy 1
+2 more
GPathogenic
DYSF
Indel
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(F1460fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(I1320fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(T720fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(Y1419fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(K851fs +7 more)
Microsatellite
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(L1495fs +13 more)
Indel
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(E1994fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(Y1480* +13 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(P1418fs +7 more)
Insertion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(A1699fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(A182fs +3 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(W1678* +13 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(P136fs +1 more)
Indel
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(V1697fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(E750fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(Y1670fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(E1867* +13 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(Y479fs +3 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(T184fs +3 more)
Indel
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(G156fs +3 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(L1760fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(K812* +7 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(E715* +7 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(K1630fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(Y633* +7 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(E1972fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(K216* +3 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(G1052fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(Y525fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(D107fs +1 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(K896* +7 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(L501fs +7 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+3 more
GPathogenic/Likely pathogenic
DYSF
(K1010* +7 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(K201* +3 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(P143fs +1 more)
Deletion
(frameshift variant)
Miyoshi muscular dystrophy 1
+2 more
GLikely pathogenic
DYSF
(W912* +7 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+3 more
GPathogenic/Likely pathogenic
DYSF
(Y1702* +13 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(E359* +3 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(Y1588* +13 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+3 more
GPathogenic/Likely pathogenic
DYSF
(E300fs +3 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(L105fs +1 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(Y727fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(I713fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(A1968fs +13 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(F1191fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(D60fs +1 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(A587fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(K1712* +13 more)
Single nucleotide variant
(nonsense)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(L106fs +1 more)
Indel
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(P1092fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(A1041fs +7 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+2 more
GLikely pathogenic
DYSF
(W1013* +7 more)
Single nucleotide variant
(nonsense)
Miyoshi muscular dystrophy 1
+3 more
GLikely pathogenic
DYSF
(T911S +7 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+2 more
GUncertain significance
DYSF
(R1856fs +13 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
(M1918K +13 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
(Q225* +3 more)
Single nucleotide variant
(nonsense)
Qualitative or quantitative defects of dysferlin
GPathogenic
DYSF
(H1739R +13 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
(Y792* +7 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GPathogenic
DYSF
(C1928* +13 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GPathogenic
DYSF
(R1082S +7 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
(G1646fs +13 more)
Indel
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GPathogenic
DYSF
(V1203fs +7 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GPathogenic
DYSF
(E1009G +7 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GUncertain significance
DYSF
(L344P +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
(M1821fs +13 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GPathogenic
DYSF
(R204Q +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GUncertain significance
DYSF
(E1000G +7 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+3 more
GUncertain significance
DYSF
(D304G +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+1 more
GUncertain significance
DYSF
(R945Q +7 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GLikely pathogenic
DYSF
(G1119S +7 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GUncertain significance
DYSF
(R370Q +3 more)
Single nucleotide variant
(missense variant)
Distal myopathy with anterior tibial onset
+3 more
GConflicting classifications of pathogenicity
DYSF
(Q725* +7 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+1 more
GPathogenic/Likely pathogenic
DYSF
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+1 more
GConflicting classifications of pathogenicity
DYSF
(E1610fs +13 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+3 more
GPathogenic
DYSF
(P2017A +13 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(P125L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DYSF
(L1811Q +13 more)
Single nucleotide variant
(missense variant)
Miyoshi muscular dystrophy 1
+2 more
GUncertain significance
DYSF
(N439K +3 more)
Single nucleotide variant
(missense variant)
Distal myopathy with anterior tibial onset
+2 more
GUncertain significance
DYSF
(P1667A +13 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+3 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination