U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLD1
(Y618* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
GUncertain significance
POLD1
(P571A)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
GUncertain significance
POLD1
(E1067K +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
GPathogenic
POLD1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
POLD1
Single nucleotide variant
(3 prime UTR variant)
Mandibular hypoplasia-deafness-progeroid syndrome
+2 more
GBenign
POLD1
Single nucleotide variant
(intron variant)
Mandibular hypoplasia-deafness-progeroid syndrome
+2 more
GBenign
POLD1
(Q1062R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
GConflicting classifications of pathogenicity
POLD1
(T1072A +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
POLD1
(V767M +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
GUncertain significance
POLD1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
POLD1
(L838M +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+1 more
GUncertain significance
POLD1
(G1001S +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+3 more
GUncertain significance
POLD1
Single nucleotide variant
(synonymous variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GLikely benign
POLD1
(V122M)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
POLD1
(Q733E +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+2 more
GUncertain significance
POLD1
(R218C)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+1 more
GUncertain significance
POLD1
(R1011W +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+2 more
GUncertain significance
POLD1
(P208L)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
POLD1
(T666A +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+3 more
GUncertain significance
POLD1
Duplication
(splice acceptor variant)
Mandibular hypoplasia-deafness-progeroid syndrome
+3 more
GUncertain significance
POLD1
(R506C)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GUncertain significance
POLD1
(I431V)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+4 more
GConflicting classifications of pathogenicity
POLD1
(I1039T +1 more)
Single nucleotide variant
(missense variant +1 more)
POLD1-related disorder
+3 more
GUncertain significance
POLD1
(D920E +1 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 10
+3 more
GUncertain significance
POLD1
(A820T +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+1 more
GUncertain significance
POLD1
(R623W +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GUncertain significance
POLD1
(V573L)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GUncertain significance
POLD1
(R525Q)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+3 more
GConflicting classifications of pathogenicity
POLD1
(R352L)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+3 more
GUncertain significance
POLD1
(R875C +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+2 more
GUncertain significance
POLD1
(T1022M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
POLD1
(T1056M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
POLD1
Single nucleotide variant
(intron variant)
Colorectal cancer, susceptibility to, 10
+3 more
GUncertain significance
POLD1
(R322H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
POLD1
(I101F)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
POLD1
(I75V)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+3 more
GConflicting classifications of pathogenicity
POLD1
(R432W)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
POLD1
(G1126R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
POLD1
(A86V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
POLD1
(R715Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+1 more
GUncertain significance
POLD1
(P347L)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GUncertain significance
POLD1
(E884D +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+1 more
GUncertain significance
POLD1
(A536V)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+3 more
GUncertain significance
POLD1
(G12R)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+4 more
GConflicting classifications of pathogenicity
POLD1
(D644N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
POLD1
Single nucleotide variant
(synonymous variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GConflicting classifications of pathogenicity
POLD1
(R855* +1 more)
Single nucleotide variant
(nonsense +1 more)
Colorectal cancer, susceptibility to, 10
+3 more
GUncertain significance
POLD1
(S604Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+1 more
GUncertain significance
POLD1
(P123S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
POLD1
(R849C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
POLD1
(A171S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
POLD1
(P115S)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+1 more
GUncertain significance
POLD1
(R432G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
POLD1
(V455M)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
POLD1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GLikely benign
POLD1
Single nucleotide variant
(synonymous variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GBenign/Likely benign
POLD1
Single nucleotide variant
(synonymous variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GBenign/Likely benign
POLD1
Single nucleotide variant
(intron variant)
Colorectal cancer, susceptibility to, 10
+4 more
GBenign
POLD1
(R119H)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GBenign
POLD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign
POLD1
Single nucleotide variant
(splice acceptor variant)
Colorectal cancer, susceptibility to, 10
+3 more
GUncertain significance
POLD1
Single nucleotide variant
(intron variant)
Colorectal cancer, susceptibility to, 10
+4 more
GBenign/Likely benign
POLD1
Single nucleotide variant
(intron variant)
Colorectal cancer, susceptibility to, 10
+4 more
GBenign
POLD1
Single nucleotide variant
(synonymous variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GBenign
POLD1
(T238M)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GUncertain significance
POLD1
(V312M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
POLD1
(D289G)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GUncertain significance
POLD1
(A274T)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
POLD1
(R166Q)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+3 more
GConflicting classifications of pathogenicity
OUncertain significance
POLD1
(S118F)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
POLD1
(T954R +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GUncertain significance
POLD1
(M824V +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GUncertain significance
POLD1
(P82L)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
POLD1
(R78C)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+2 more
GUncertain significance
POLD1
(R776Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular hypoplasia-deafness-progeroid syndrome
+3 more
GConflicting classifications of pathogenicity
POLD1
(G764S +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+3 more
GUncertain significance
POLD1
(G68E)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GConflicting classifications of pathogenicity
POLD1
(R521Q)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GConflicting classifications of pathogenicity
POLD1
(Q456E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
POLD1
(T441M)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
POLD1
(R386H)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
POLD1
(V70F)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
POLD1
(R166W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
POLD1
(R30W)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
POLD1
(I260V)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
POLD1
(A145T)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+5 more
GBenign/Likely benign
POLD1
(G321S)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+6 more
GConflicting classifications of pathogenicity
POLD1
(R126C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
POLD1
(R19H)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GBenign/Likely benign
POLD1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign/Likely benign
POLD1
(R849H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
POLD1
(S605del +1 more)
Microsatellite
(inframe_deletion +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GPathogenic
Format
Items per page
Sort by
Choose Destination