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Items: 1 to 100 of 855

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130058149, LOC130058150
+925 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+851 more
Copy number gain
See cases
GPathogenic
BFAR, CPPED1
+113 more
Copy number loss
See cases
GLikely pathogenic
BFAR, CPPED1
+110 more
Copy number loss
See cases
GPathogenic
ERCC4
Single nucleotide variant
Xeroderma pigmentosum, group F
+2 more
GBenign
ERCC4
Single nucleotide variant
not provided
GLikely benign
ERCC4, LOC130058543
Single nucleotide variant
not provided
GBenign
LOC130058543, ERCC4
+1 more
Deletion
Cockayne syndrome
+2 more
GPathogenic
ERCC4, LOC130058543
(M1V)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group Q
GUncertain significance
ERCC4, LOC130058543
(M1R)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130058543, ERCC4
(E2Q)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(S3L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
(P6S)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+7 more
GUncertain significance
ERCC4, LOC130058543
(P6L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
GUncertain significance
ERCC4, LOC130058543
(A7T)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
(A7V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4, LOC130058543
(R8*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group Q
+2 more
GPathogenic
ERCC4, LOC130058543
(R9G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(R9P)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
(A11V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
ERCC4, LOC130058543
(M12V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(A13T)
Single nucleotide variant
(missense variant)
Behavioral variant of frontotemporal dementia
+4 more
GUncertain significance
ERCC4, LOC130058543
(A13S)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
LOC130058543, ERCC4
(P14L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(P14R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
(E19K)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
GUncertain significance
ERCC4, LOC130058543
(R20*)
Single nucleotide variant
(nonsense)
Cockayne syndrome
+2 more
GPathogenic
ERCC4, LOC130058543
(Q21E)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(V23fs)
Deletion
(frameshift variant)
Cockayne syndrome
+2 more
GPathogenic
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
(E25Q)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(L27F)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+4 more
GUncertain significance
LOC130058543, ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
(D28G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(T29I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERCC4, LOC130058543
(D30A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4, LOC130058543
(D30E)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(G31R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
(V33A)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC4, LOC130058543
(V34M)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GConflicting classifications of pathogenicity
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GConflicting classifications of pathogenicity
ERCC4, LOC130058543
(A36P)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(R37C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
(G40R)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
GUncertain significance
ERCC4, LOC130058543
(A41G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(D42N)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(D42G)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
(R43W)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
LOC130058543, ERCC4
(L44F)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
(Y46C)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(F48Y)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(L49F)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
+4 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
(Q50*)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4, LOC130058543
(L51R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(C53Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4, LOC130058543
(A56V)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
(V59E)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4, LOC130058543
(N63H)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GUncertain significance
ERCC4, LOC130058543
(T64S)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(Q65L)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
GUncertain significance
ERCC4
(A67T)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+5 more
GBenign
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
LOC130058544, ERCC4
Single nucleotide variant
(intron variant)
not provided
GBenign
ERCC4, LOC130058544
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
not provided
GBenign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group F
+2 more
GLikely benign
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(E70K)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4
(Y71H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ERCC4
(F72L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(I73V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+4 more
GUncertain significance
ERCC4
Single nucleotide variant
(synonymous variant)
ERCC4-related disorder
+4 more
GConflicting classifications of pathogenicity
ERCC4
(I78L)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(V81I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+3 more
GConflicting classifications of pathogenicity
ERCC4
(V81F)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+5 more
GBenign/Likely benign
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