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Items: 1 to 100 of 248

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANO5
Single nucleotide variant
(5 prime UTR variant)
Miyoshi myopathy
+7 more
GBenign
ANO5
(M1fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
ANO5
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
ANO5
Single nucleotide variant
(synonymous variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
(P4R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ANO5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ANO5
Single nucleotide variant
(splice acceptor variant)
Gnathodiaphyseal dysplasia
+2 more
GPathogenic/Likely pathogenic
ANO5
(E15G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GUncertain significance
ANO5
(Y23*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
ANO5
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GConflicting classifications of pathogenicity
ANO5
(E36fs +1 more)
Microsatellite
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GPathogenic
ANO5
(E44K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
Single nucleotide variant
(intron variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
Deletion
(splice acceptor variant +1 more)
Gnathodiaphyseal dysplasia
+2 more
GPathogenic/Likely pathogenic
ANO5
(P47S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GUncertain significance
ANO5
(R50Q +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
ANO5
(N52S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+4 more
GConflicting classifications of pathogenicity
ANO5
(F54S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(R57W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ANO5
(R57Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ANO5
(R58W +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+5 more
GPathogenic/Likely pathogenic
ANO5
(R58Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+3 more
GConflicting classifications of pathogenicity
ANO5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ANO5
Single nucleotide variant
(intron variant)
Gnathodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
ANO5
(N63fs +1 more)
Duplication
(frameshift variant)
Achilles tendon contracture
+13 more
GPathogenic/Likely pathogenic
ANO5
(Q62R +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
(S66fs +1 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
ANO5
(S70Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(F73L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(D75H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ANO5
(R78T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(D80G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GPathogenic/Likely pathogenic
ANO5
(V87I +1 more)
Single nucleotide variant
(missense variant)
ANO5-Related Muscle Diseases
+4 more
GConflicting classifications of pathogenicity
ANO5
(D89Y +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(synonymous variant)
Gnathodiaphyseal dysplasia
+7 more
GBenign
ANO5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ANO5
Single nucleotide variant
(synonymous variant)
ANO5-related condition
+3 more
GConflicting classifications of pathogenicity
ANO5
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+3 more
GConflicting classifications of pathogenicity
ANO5
Duplication
(intron variant)
Gnathodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
ANO5
Single nucleotide variant
(intron variant)
Gnathodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
ANO5
(K102fs +1 more)
Deletion
(frameshift variant)
Gnathodiaphyseal dysplasia
+3 more
GPathogenic
ANO5
(E102fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ANO5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ANO5
(T111P +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ANO5
Duplication
(intron variant)
not specified
GBenign
ANO5
Deletion
(intron variant)
Gnathodiaphyseal dysplasia
+6 more
GBenign/Likely benign
ANO5
Single nucleotide variant
(intron variant)
Gnathodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
ANO5
Single nucleotide variant
(synonymous variant)
Gnathodiaphyseal dysplasia
+5 more
GConflicting classifications of pathogenicity
ANO5
(Y129H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GUncertain significance
ANO5
(V139L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ANO5
(V139A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ANO5
(T142S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ANO5
(R160C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GUncertain significance
ANO5
(R160H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+3 more
GUncertain significance
ANO5
(P161L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
Single nucleotide variant
(synonymous variant)
Gnathodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
ANO5
(E185Q +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
(R193S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(R195W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GUncertain significance
ANO5
(R195Q +1 more)
Single nucleotide variant
(missense variant)
Miyoshi myopathy
+5 more
GUncertain significance
ANO5
(E202K +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
ANO5
(T206A +1 more)
Single nucleotide variant
(missense variant)
ANO5-related condition
+6 more
GBenign/Likely benign
ANO5
(F208del +1 more)
Microsatellite
(inframe_deletion)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
(I216T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
ANO5
(Y218C +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ANO5
(Y219C +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
(S222P +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
(G227A +1 more)
Single nucleotide variant
(missense variant)
ANO5-Related Muscle Diseases
+4 more
GConflicting classifications of pathogenicity
ANO5
(D230G +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
ANO5
(G230V)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+6 more
GPathogenic/Likely pathogenic
ANO5
Single nucleotide variant
(synonymous variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Recessive
+5 more
GConflicting classifications of pathogenicity
ANO5
(Y250C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GPathogenic
ANO5
(Q256E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(P266L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ANO5
(T267S +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
ANO5
(N268S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ANO5
(T272R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(L273F +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GConflicting classifications of pathogenicity
ANO5
(R279* +1 more)
Single nucleotide variant
(nonsense)
Gnathodiaphyseal dysplasia
+2 more
GPathogenic
ANO5
(Y282C +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(intron variant)
Gnathodiaphyseal dysplasia
+3 more
GBenign
ANO5
Deletion
(intron variant)
Gnathodiaphyseal dysplasia
+3 more
GConflicting classifications of pathogenicity
ANO5
(K293N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(N294Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(G297* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ANO5
(I300N +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ANO5
(G308E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(V319I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO5
(L322F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+6 more
GBenign/Likely benign
ANO5
(L329fs +1 more)
Duplication
(frameshift variant)
Gnathodiaphyseal dysplasia
+2 more
GPathogenic
ANO5
(M332V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ANO5
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ANO5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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