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Items: 1 to 100 of 5137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
COL7A1, MIR711
+2 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
COL7A1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa dystrophica
GUncertain significance
COL7A1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa dystrophica
GBenign
COL7A1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa dystrophica
GUncertain significance
COL7A1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa dystrophica
GLikely benign
COL7A1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa dystrophica
GUncertain significance
COL7A1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa dystrophica
GUncertain significance
COL7A1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa dystrophica
GBenign
COL7A1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa dystrophica
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(A2942S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
COL7A1-related condition
+1 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa dystrophica inversa, autosomal recessive
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(Q2937E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(S2936R)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL7A1
(S2936I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(Q2935*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa pruriginosa
+1 more
GConflicting classifications of pathogenicity
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(V2934F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL7A1
(V2933L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(R2932W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(P2931S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(C2929F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL7A1
(R2928H)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa dystrophica
+1 more
GConflicting classifications of pathogenicity
COL7A1
(R2928C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(R2927H)
Single nucleotide variant
(missense variant)
Generalized dominant dystrophic epidermolysis bullosa
+7 more
GConflicting classifications of pathogenicity
COL7A1
(R2927C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa dystrophica
+1 more
GConflicting classifications of pathogenicity
COL7A1
(E2926V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(A2924T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(T2921A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(T2921fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(G2920E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(F2919S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(R2918C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(N2917D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(A2916V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(G2911D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(Y2909C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(P2906fs)
Deletion
(frameshift variant)
Epidermolysis bullosa dystrophica
GPathogenic
COL7A1
(P2906A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(G2899fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL7A1
(C2904*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(S2900fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL7A1
(A2903T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL7A1
(A2903fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL7A1
(E2902fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(R2895P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(R2895Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL7A1
(Y2893*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
COL7A1
(W2892C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(R2891C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Deletion
(inframe_deletion)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(T2889I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Deletion
(nonsense)
not provided
GPathogenic
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
(T2886I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(C2885Y)
Single nucleotide variant
(missense variant)
COL7A1-related condition
+1 more
GConflicting classifications of pathogenicity
COL7A1
(G2883S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
(P2879S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL7A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa dystrophica
GUncertain significance
COL7A1
(C2876R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL7A1
Deletion
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL7A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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