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Items: 1 to 100 of 1192

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932075, LOC129932076
+560 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
ANGPTL1, APOBEC4
+455 more
Copy number loss
See cases
GPathogenic
LOC129388668, LOC129388669
+477 more
Copy number loss
See cases
GPathogenic
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
LAMC2, LOC126805948
Single nucleotide variant
Junctional epidermolysis bullosa
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
Junctional epidermolysis bullosa
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
not provided
+1 more
GBenign
LAMC2, LOC126805948
Single nucleotide variant
Junctional epidermolysis bullosa
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
Junctional epidermolysis bullosa
+1 more
GBenign
LAMC2, LOC126805948
Single nucleotide variant
Junctional epidermolysis bullosa
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
(5 prime UTR variant)
Junctional epidermolysis bullosa
+3 more
GBenign
LAMC2, LOC126805948
Single nucleotide variant
(5 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
(5 prime UTR variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
(5 prime UTR variant)
Junctional epidermolysis bullosa
+1 more
GBenign
LAMC2, LOC126805948
Single nucleotide variant
(5 prime UTR variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GUncertain significance
LOC126805948, LAMC2
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
LAMC2, LOC126805948
(M1V)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMC2, LOC126805948
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LAMC2, LOC126805948
(M1I)
Single nucleotide variant
(missense variant +1 more)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
(W5*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LAMC2, LOC126805948
(G7S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
Junctional epidermolysis bullosa
+1 more
GConflicting classifications of pathogenicity
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
(R20W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126805948, LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
(R25K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LAMC2, LOC126805948
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126805948, LAMC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2, LOC126805948
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMC2, LOC126805948
Deletion
(intron variant)
not provided
GBenign
LAMC2, LOC126805948
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMC2, LOC126805948
Single nucleotide variant
(intron variant)
not provided
GBenign
LAMC2
Duplication
(intron variant)
not provided
GBenign
LAMC2
Duplication
(intron variant)
not provided
GBenign
LAMC2
Duplication
(intron variant)
not provided
GBenign
LAMC2
Deletion
(intron variant)
not provided
GBenign
LAMC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
LAMC2
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GLikely pathogenic
LAMC2
(V27A)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(N31S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(R45fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LAMC2
(R45G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(Q46*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LAMC2
(F51fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(N57D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(N59fs)
Deletion
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(D61*)
Duplication
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(C65*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(E66K)
Single nucleotide variant
(missense variant)
Junctional epidermolysis bullosa
+2 more
GConflicting classifications of pathogenicity
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(Y73*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(R78G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAMC2
(C84*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa gravis of Herlitz
GLikely pathogenic
LAMC2
(N85S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LAMC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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