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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6
(Q1413R)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+4 more
GBenign
ERCC6
(E1408A)
Single nucleotide variant
(missense variant)
ERCC6-related condition
+6 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ERCC6
(V1366I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC6
(G1356S)
Single nucleotide variant
(missense variant)
UV-sensitive syndrome 1
+7 more
GConflicting classifications of pathogenicity
ERCC6
(D1355E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ERCC6
(R1288*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
ERCC6
(D1249N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ERCC6
(S1240I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC6
(F1217C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ERCC6
(A1215T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ERCC6
(R1213G)
Single nucleotide variant
(missense variant)
COFS syndrome
+4 more
GBenign/Likely benign
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GUncertain significance
ERCC6
(C1212S)
Single nucleotide variant
(missense variant)
DE SANCTIS-CACCHIONE SYNDROME
+3 more
GUncertain significance
ERCC6
(E1194G)
Single nucleotide variant
(missense variant)
ERCC6-related condition
+2 more
GLikely benign
ERCC6
(M1097V)
Single nucleotide variant
(missense variant)
COFS syndrome
+4 more
GBenign/Likely benign
ERCC6
(P1095R)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ERCC6
(Q1041P)
Single nucleotide variant
(missense variant)
COFS syndrome
+12 more
GConflicting classifications of pathogenicity
ERCC6
(I1021V)
Single nucleotide variant
(missense variant)
ERCC6-related condition
+4 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
ERCC6, LOC126860933
(R975Q)
Single nucleotide variant
(missense variant)
COFS syndrome
+4 more
GConflicting classifications of pathogenicity
ERCC6, LOC126860933
(R947*)
Single nucleotide variant
(nonsense)
Cerebrooculofacioskeletal syndrome 1
+3 more
GPathogenic/Likely pathogenic
ERCC6, LOC126860933
(P934T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(synonymous variant)
ERCC6-related condition
+5 more
GBenign/Likely benign
ERCC6
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(intron variant)
Age related macular degeneration 5
+3 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ERCC6
(T699M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ERCC6
(W686C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ERCC6
(R683Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ERCC6
(R666C)
Single nucleotide variant
(missense variant)
not specified
+12 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ERCC6
(K553N)
Single nucleotide variant
(missense variant)
ERCC6-related condition
+9 more
GUncertain significance
ERCC6
Single nucleotide variant
(splice donor variant)
Cockayne syndrome
+2 more
GPathogenic/Likely pathogenic
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ERCC6, ERCC6-PGBD3
+1 more
(R464W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
ERCC6, ERCC6-PGBD3
+1 more
(R447Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ERCC6, PGBD3
(D425A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ERCC6, PGBD3
(G399D)
Single nucleotide variant
(missense variant +1 more)
COFS syndrome
+8 more
GBenign/Likely benign
ERCC6, PGBD3
(D386E)
Single nucleotide variant
(missense variant +1 more)
ERCC6-related condition
+5 more
GConflicting classifications of pathogenicity
ERCC6, ERCC6-PGBD3
+1 more
Microsatellite
(inframe_deletion)
DE SANCTIS-CACCHIONE SYNDROME
+3 more
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ERCC6, ERCC6-PGBD3
(G270S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC6-PGBD3, ERCC6
(R241H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC6
(L224F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(synonymous variant)
COFS syndrome
+4 more
GBenign
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ERCC6, ERCC6-PGBD3
(R122C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERCC6, ERCC6-PGBD3
(E43D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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