U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1088

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEC
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
PLEC
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex with nail dystrophy
+6 more
GBenign
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(V4514M +6 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
PLEC
(S4504L +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
PLEC-related condition
+7 more
GBenign/Likely benign
PLEC
(T4484I +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
(M4515V +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
PLEC
(G4478S +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
(T4509S +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEC
(G4482S +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
PLEC
(S4465P +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+5 more
GConflicting classifications of pathogenicity
PLEC
(G4478S +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
(T4469A +6 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
PLEC-related condition
+6 more
GConflicting classifications of pathogenicity
PLEC
(R4476S +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+6 more
GBenign
PLEC
(A4455T +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(G4462S +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+5 more
GConflicting classifications of pathogenicity
PLEC
(A4436T +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+6 more
GBenign
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
PLEC-related condition
+7 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
PLEC
(V4396M +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(R4394C +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
(T4384M +6 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex, Ogna type
+6 more
GConflicting classifications of pathogenicity
PLEC
(R4373H +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GUncertain significance
PLEC
(R4432C +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(T4370M +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+6 more
GBenign
PLEC
(D4369N +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
PLEC-related condition
+6 more
GConflicting classifications of pathogenicity
PLEC
(T4362S +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEC
(Q4359R +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEC
(A4339T +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa with pyloric atresia
+6 more
GBenign/Likely benign
PLEC
(S4347L +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 more
GUncertain significance
PLEC
(T4334I +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
PLEC
(T4366A +6 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+5 more
GConflicting classifications of pathogenicity
PLEC
(R4326H +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(P4299L +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+7 more
GUncertain significance
PLEC
(G4295S +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
PLEC
(G4288S +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
PLEC-related condition
+7 more
GConflicting classifications of pathogenicity
PLEC
(T4315M +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(E4255G +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(P4241S +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+7 more
GBenign/Likely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+6 more
GBenign
PLEC
(V4230I +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+7 more
GBenign
PLEC
Single nucleotide variant
(synonymous variant)
PLEC-related condition
+6 more
GConflicting classifications of pathogenicity
PLEC
(A4239T +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+6 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PLEC
(S4227L +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
(R4214H +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+5 more
GUncertain significance
PLEC
(A4240T +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(S4365C +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GUncertain significance
PLEC
(T4194M +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(A4192G +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
PLEC
(A4192T +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(S4221L +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+6 more
GBenign/Likely benign
PLEC
(A4214T +6 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PLEC
(A4194T +6 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
PLEC
(R4169C +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PLEC
(V4175M +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
PLEC
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
PLEC
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign
Format
Items per page
Sort by
Choose Destination