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Links from Gene

Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC4, LOC130058543
(C57S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
Deletion
Fanconi anemia complementation group Q
+2 more
GPathogenic
ERCC4, LOC130058543
(G40R)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
GUncertain significance
ERCC4, LOC130058543
(E19K)
Single nucleotide variant
(missense variant)
XFE progeroid syndrome
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
(D30E)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
LOC130058543, ERCC4
(T64S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(E25Q)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
LOC130058543, ERCC4
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
(Q50*)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4, LOC130058543
(C53Y)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group Q
+2 more
GLikely benign
ERCC4, LOC130058543
(D28G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(L51R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(L591V)
Single nucleotide variant
(missense variant)
Ovarian cancer
GLikely pathogenic
ERCC4, LOC130058543
(V34M)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+3 more
GConflicting classifications of pathogenicity
ERCC4, LOC130058543
(M1V)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group Q
GUncertain significance
ERCC4
(G673S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(L433W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(K487E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(T493P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4, LOC130058543
(G31R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4, LOC130058543
(V23fs)
Deletion
(frameshift variant)
Xeroderma pigmentosum, group F
+2 more
GPathogenic
ERCC4, LOC130058543
(M12V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(A7V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(A56V)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4, LOC130058543
(M1R)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(R9G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(A36P)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(N63H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ERCC4, LOC130058543
(V33A)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+2 more
GLikely benign
ERCC4, LOC130058543
(R20*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group Q
+2 more
GPathogenic
ERCC4, LOC130058543
(Y46C)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(D42G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(F48Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(T29I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERCC4, LOC130058543
(R43W)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
GUncertain significance
ERCC4, LOC130058544
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERCC4
(I337V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(L388V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(E533K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(I746M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(S768C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(S780C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(V909A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4, LOC130058543
(A13T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ERCC4, LOC130058543
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ERCC4, LOC130058544
Single nucleotide variant
(intron variant)
not provided
GBenign
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
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
(D42N)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(L44F)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(P6L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
GUncertain significance
ERCC4
(I357fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ERCC4, LOC130058543
(A11V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(E2Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(A41G)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
GUncertain significance
ERCC4, LOC130058543
(L49F)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
+5 more
GUncertain significance
ERCC4, LOC130058543
(R37C)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+3 more
GUncertain significance
ERCC4, LOC130058543
(R9P)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(A13S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4
(F851del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
ERCC4
(G508del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
ERCC4
(I518fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
ERCC4, LOC130058543
(A7T)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+2 more
GUncertain significance
ERCC4, LOC130058543
(P14L)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+2 more
GUncertain significance
ERCC4
(L252fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
ERCC4
(M497V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4, LOC130058543
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group F
+2 more
GConflicting classifications of pathogenicity
ERCC4, LOC130058543
(Q21E)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
+2 more
GUncertain significance
ERCC4, LOC130058543
(P14R)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group F
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
+4 more
GBenign/Likely benign
ERCC4, LOC130058543
(D30A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
Copy number gain
Premature ovarian failure
GUncertain significance
ERCC4
Single nucleotide variant
(splice donor variant)
not specified
Gnot provided
ERCC4
(G508E)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
ERCC4
(H571Y)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
ERCC4
(R483G)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
ERCC4
(D330H)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
ERCC4
(L313P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC4
(V870I)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
ERCC4, LOC130058543
(V59E)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
ERCC4, LOC130058543
(L27F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group Q
+4 more
GUncertain significance
ERCC4, LOC130058543
(P6S)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
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