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Links from MedGen

Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BIVM-ERCC5, ERCC5
(L1435fs +1 more)
Deletion
(frameshift variant)
Xeroderma pigmentosum, group G
GLikely pathogenic
BIVM-ERCC5, ERCC5
(R523* +1 more)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum, group G
GLikely pathogenic
BIVM-ERCC5, ERCC5
(K108fs +1 more)
Deletion
(frameshift variant)
Xeroderma pigmentosum, group G
GLikely pathogenic
BIVM-ERCC5, ERCC5
+1 more
(W1182R +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(splice acceptor variant)
Xeroderma pigmentosum, group G
GLikely pathogenic
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ERCC5, BIVM-ERCC5
(A347S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BIVM-ERCC5, ERCC5
+1 more
(D1252Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
(K1185T +1 more)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 3
+3 more
GUncertain significance
BIVM-ERCC5, ERCC5
(S1146R +1 more)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 3
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
(G1141R +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
+1 more
(R819W +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
+1 more
GUncertain significance
LOC126861834, BIVM-ERCC5
+1 more
(A1249T +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
+2 more
GUncertain significance
BIVM-ERCC5, ERCC5
+1 more
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
GUncertain significance
ERCC5, BIVM-ERCC5
(M802R +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
(T344A +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
(S765C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
+1 more
(I1185F +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
(M676V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
(E614V +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
(A98V +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
(S1045R +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
(R954W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
(R1632H +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
(R1373Q +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
(V378I +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
(I26V)
Single nucleotide variant
(missense variant +1 more)
ERCC5-related disorder
+2 more
GLikely benign
ERCC5, BIVM-ERCC5
(E11A)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
(A1050G +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
ERCC5, BIVM-ERCC5
(V1044I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
(V281fs +1 more)
Microsatellite
(frameshift variant)
Xeroderma pigmentosum, group G
GPathogenic
BIVM-ERCC5, ERCC5
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
+1 more
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GBenign/Likely benign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
BIVM-ERCC5-related disorder
+2 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
(A377fs +1 more)
Deletion
(frameshift variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
BIVM-ERCC5, ERCC5
+1 more
(Q785* +1 more)
Single nucleotide variant
(nonsense)
Xeroderma pigmentosum, group G
GLikely pathogenic
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GBenign/Likely benign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(3 prime UTR variant)
Xeroderma pigmentosum, group G
+1 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
BIVM-ERCC5, ERCC5
(R1178C +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
(A1143V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
(V1138M +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
(V940M +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
BIVM-ERCC5, ERCC5
(P867L +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
+1 more
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
+1 more
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GConflicting classifications of pathogenicity
LOC126861834, BIVM-ERCC5
+1 more
(Q756H +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
LOC126861834, BIVM-ERCC5
+1 more
(L736F +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
+1 more
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
+1 more
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+2 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ERCC5, BIVM-ERCC5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
BIVM-ERCC5, ERCC5
(P487L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
(T411M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
BIVM-ERCC5-related disorder
+2 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+3 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
(I247V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
BIVM-ERCC5, ERCC5
(E224Q +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
(H181R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BIVM-ERCC5, ERCC5
(P148S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
Xeroderma pigmentosum, group G
+1 more
GBenign
BIVM-ERCC5, ERCC5
(R43W +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Xeroderma pigmentosum, group G
+1 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
Xeroderma pigmentosum, group G
GUncertain significance
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ERCC5, BIVM-ERCC5
Single nucleotide variant
(intron variant)
Cerebrooculofacioskeletal syndrome 3
+3 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
BIVM-ERCC5, ERCC5
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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