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Items: 1 to 100 of 5965

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
LOC125146428, LOC125146429
+400 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+287 more
Copy number gain
See cases
GLikely pathogenic
LOC130058727, LOC130058728
+287 more
Copy number gain
See cases
GPathogenic
AQP8, ARHGAP17
+209 more
Copy number loss
See cases
GPathogenic
OTOA, PALB2
+280 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+233 more
Copy number gain
See cases
GLikely pathogenic
DCTPP1, DOC2A
+409 more
Copy number gain
See cases
GPathogenic
PALB2
Duplication
Familial cancer of breast
GLikely pathogenic
PALB2
Single nucleotide variant
Familial cancer of breast
GLikely benign
PALB2
Deletion
Familial cancer of breast
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Duplication
Familial cancer of breast
GUncertain significance
PALB2
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group N
GUncertain significance
PALB2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
Indel
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PALB2
Deletion
(stop lost)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Duplication
Familial cancer of breast
GUncertain significance
PALB2
Duplication
Familial cancer of breast
GUncertain significance
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Duplication
Familial cancer of breast
GUncertain significance
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Duplication
Familial cancer of breast
GUncertain significance
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
Deletion
(splice acceptor variant)
Malignant tumor of breast
GLikely pathogenic
PALB2
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PALB2
Deletion
Hereditary cancer-predisposing syndrome
GPathogenic
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Deletion
Familial cancer of breast
GPathogenic
PALB2
Single nucleotide variant
(stop lost)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+1 more
GLikely benign
PALB2
Duplication
(inframe_indel +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
(S1186*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
PALB2
(Y1185D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PALB2
(Y1185H)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(H1184Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PALB2
(H1184fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PALB2
(H1091N +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PALB2
(H1184Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PALB2
(Y1183*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
PALB2
(Y1183*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
PALB2
Indel
(nonsense)
Familial cancer of breast
GPathogenic
PALB2
(Y1183D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+1 more
GLikely benign
PALB2
(V1103fs +10 more)
Insertion
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
PALB2
(V1182A)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(V1182fs)
Duplication
(frameshift variant)
Familial cancer of breast
GPathogenic
PALB2
(V1182L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GConflicting classifications of pathogenicity
PALB2
(I1180fs)
Deletion
(frameshift variant)
Familial cancer of breast
GLikely pathogenic
PALB2
(F1181fs)
Deletion
(frameshift variant)
Familial cancer of breast
GUncertain significanceFDA Recognized
database
PALB2
(N1179fs)
Indel
(frameshift variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
(F1181S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PALB2
(K1176fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
PALB2
(I1180M)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
GUncertain significance
PALB2
(I1180T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PALB2
(I1180V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+1 more
GLikely benign
PALB2
Deletion
(inframe_deletion)
Familial cancer of breast
GUncertain significance
PALB2
(N1179K)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(N1179S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
PALB2
(G1154A +10 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(G1154R +10 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(D1084N +10 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
(Q1175fs)
Indel
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely pathogenic
PALB2
(K1083E +10 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
PALB2
(Q1175R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(Q1175*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
PALB2
(G1174V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(G1174R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(A824G +10 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
(A1173D)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(A1173V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PALB2
(A1080P +10 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
(A1173T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(A1173S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PALB2
(L1172R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(L1172P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(L1172V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
PALB2
(L1171F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PALB2
(L1078fs +10 more)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GUncertain significanceFDA Recognized
database
PALB2
(L1171S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+1 more
GLikely benign
PALB2
(H1077P +10 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
PALB2
(H1170N)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GConflicting classifications of pathogenicity
PALB2
(H1170Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PALB2
(H1170fs)
Microsatellite
(frameshift variant)
Hereditary breast ovarian cancer syndrome
+6 more
GConflicting classifications of pathogenicity
PALB2
(S1169C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(S1090T +10 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
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