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Items: 1 to 100 of 157

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGCB
(R174fs)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy
GPathogenic
LOC129935364, MARS2
(M1V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
CAPN3
(S173F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
FKRP
(Q437fs)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy
GPathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
FKRP
(A157P)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
CAPN3, LOC126862115
(G127E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
GPathogenic
ASTN2, TRIM32
Deletion
Autosomal recessive limb-girdle muscular dystrophy
GPathogenic
DYSF
(F1197fs +7 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
TRAPPC11
(L918fs)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
DYSF
(E1000* +7 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
+1 more
GLikely pathogenic
CAPN3
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy
GUncertain significance
PLEC
Deletion
(initiator_codon_variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy
GUncertain significance
SGCA
(H29fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
POMT2
(W262*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
SGCA
(Y90C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GLikely pathogenic
ANO5
Deletion
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
POMT2
(W262*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+3 more
GPathogenic/Likely pathogenic
DYSF
Single nucleotide variant
(splice acceptor variant)
Qualitative or quantitative defects of dysferlin
+1 more
GLikely pathogenic
SGCB
(T182A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2E
+2 more
GPathogenic/Likely pathogenic
ASTN2, TRIM32
Deletion
Autosomal recessive limb-girdle muscular dystrophy
GPathogenic
POMT1, UCK1
Deletion
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
Gnathodiaphyseal dysplasia
+2 more
GLikely pathogenic
FKRP
(Q7*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
DYSF
Deletion
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
SGCA
(M1V)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+1 more
GPathogenic/Likely pathogenic
ASTN2, TRIM32
(E25*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
CAPN3
(L182Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
POMT1
(V202A)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GLikely pathogenic
SGCG
Deletion
Autosomal recessive limb-girdle muscular dystrophy
GPathogenic
DYSF
Duplication
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
CAPN3
Deletion
Autosomal recessive limb-girdle muscular dystrophy
GPathogenic
POMT1
(V529fs +10 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GPathogenic/Likely pathogenic
POMT1
(R105H +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GLikely pathogenic
DYSF
(W1897* +13 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
GPathogenic
CAPN3
(M248R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+2 more
GPathogenic
POMT1
Single nucleotide variant
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GPathogenic
DYSF
(I1546fs +13 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
CAPN3
(R400L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+1 more
GPathogenic
DYSF
(Q1668* +13 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
+4 more
GPathogenic/Likely pathogenic
DYSF
(E1440* +7 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
+4 more
GPathogenic/Likely pathogenic
ASTN2, TRIM32
(L153fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+3 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(R299H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+5 more
GPathogenic/Likely pathogenic
CAPN3
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic
SGCG
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy
+1 more
GLikely pathogenic
POMT1
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
DYSF
(L1775fs +13 more)
Duplication
(frameshift variant)
Qualitative or quantitative defects of dysferlin
+2 more
GPathogenic
POMT1
(V202I)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GPathogenic/Likely pathogenic
FKRP
(K472fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CAPN3
(M283T)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+2 more
GPathogenic/Likely pathogenic
FKRP
(P462S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
CAPN3
(S744G +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GConflicting classifications of pathogenicity
SGCA
(E137Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
CAPN3, LOC130056921
(E467del +1 more)
Microsatellite
(inframe_deletion)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GPathogenic/Likely pathogenic
CAPN3
Single nucleotide variant
(splice donor variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GPathogenic
POMGNT1, TSPAN1
(G505S +2 more)
Single nucleotide variant
(missense variant)
Muscle eye brain disease
+6 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+4 more
GPathogenic/Likely pathogenic
SGCB
(V89M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
FKRP
(E310*)
Single nucleotide variant
(nonsense)
Walker-Warburg congenital muscular dystrophy
+7 more
GPathogenic/Likely pathogenic
DYSF
(Y1505C +13 more)
Single nucleotide variant
(missense variant)
Distal myopathy with anterior tibial onset
+5 more
GConflicting classifications of pathogenicity
ANO5
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
FKRP
(I478T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
+4 more
GPathogenic/Likely pathogenic
CAPN3, LOC130056921
(R461C +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GPathogenic/Likely pathogenic
SGCB
(R91C)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
DYSF
(R1040W +7 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
CAPN3
(R541W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
DYSF, LOC110121121
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy
+2 more
GPathogenic
CAPN3
(G214S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DYSF
(W1968* +13 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
DYSF
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
CAPN3
(G367S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+3 more
GConflicting classifications of pathogenicity
LOC129992585, SGCB
(A8fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
CAPN3
(R357Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2N
GLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2B
+2 more
GLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2L
+1 more
GLikely pathogenic
TRAPPC11
(R48*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
+1 more
GPathogenic
CAPN3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+2 more
GUncertain significance
SGCA
(P205H)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
CAPN3
(R489Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+4 more
GPathogenic/Likely pathogenic
CAPN3
(S606L +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
DYSF
(R1768W +13 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+4 more
GPathogenic/Likely pathogenic
ANO5
(L668fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy
+4 more
GPathogenic
CAPN3
(G445R +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+3 more
GPathogenic/Likely pathogenic
SGCG
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+2 more
GPathogenic/Likely pathogenic
SGCG
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+2 more
GPathogenic/Likely pathogenic
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
+3 more
GPathogenic
CAPN3
(Y763C +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+3 more
GPathogenic/Likely pathogenic
CAPN3
(R289W)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+4 more
GPathogenic/Likely pathogenic
CAPN3
(I502T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2A
+4 more
GConflicting classifications of pathogenicity
CAPN3
(R769W +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+4 more
GPathogenic/Likely pathogenic
DYSF
(D422N +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
ANO5
(R547Q +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+4 more
GConflicting classifications of pathogenicity
CAPN3
(T417M +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+4 more
GPathogenic/Likely pathogenic
SGCG
(L194S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2C
+2 more
GPathogenic/Likely pathogenic
SGCA
(L173P)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2D
+2 more
GPathogenic/Likely pathogenic
SGCA
(S177fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy
+2 more
GPathogenic
DYSF
(R377* +3 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+5 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+6 more
GPathogenic
FKRP
(V300M)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+8 more
GConflicting classifications of pathogenicity
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