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Links from MedGen

Items: 1 to 100 of 304

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PALB2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
PALB2
Single nucleotide variant
(splice acceptor variant +1 more)
Fanconi anemia complementation group N
+1 more
GLikely pathogenic
PALB2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+2 more
GLikely benign
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+2 more
GLikely benign
PALB2
(K784*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
PALB2
(C396*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+1 more
GPathogenic
PALB2
(R146K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PALB2
Deletion
(intron variant)
Fanconi anemia complementation group N
GPathogenic
PALB2
Copy number loss
Hereditary cancer-predisposing syndrome
+1 more
Gnot provided
PALB2
Indel
(intron variant)
Familial cancer of breast
+2 more
GLikely benign
PALB2
(P739L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
PALB2
(R120T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
PALB2
Single nucleotide variant
(intron variant)
Pancreatic cancer, susceptibility to, 3
+3 more
GLikely benign
PALB2
Single nucleotide variant
(5 prime UTR variant)
Fanconi anemia complementation group N
GUncertain significance
PALB2
Single nucleotide variant
(5 prime UTR variant)
Fanconi anemia complementation group N
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+2 more
GConflicting classifications of pathogenicity
PALB2
(K1098fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group N
GPathogenic
PALB2
(A1017T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
Deletion
Fanconi anemia complementation group N
GPathogenic
PALB2
Deletion
Fanconi anemia complementation group N
GPathogenic
PALB2
(Q260R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(H130Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PALB2
(L278Q)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
PALB2
(F440L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group N
+3 more
GUncertain significance
PALB2
(T397P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
PALB2
(N368K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(P1111L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group N
+3 more
GUncertain significance
PALB2
(Y929I)
Indel
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
PALB2
(T666I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(P621L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(E943K)
Single nucleotide variant
(missense variant)
Pancreatic cancer, susceptibility to, 3
+3 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+3 more
GLikely benign
PALB2
(S779L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(F107L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
PALB2
(I887V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group N
+3 more
GUncertain significance
PALB2
(I1013V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
PALB2
(A38V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PALB2
(E384K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(S847C)
Single nucleotide variant
(missense variant)
Pancreatic cancer, susceptibility to, 3
+3 more
GConflicting classifications of pathogenicity
PALB2
(P811fs)
Deletion
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
PALB2
(C756Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group N
+3 more
GConflicting classifications of pathogenicity
PALB2
(A935G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PALB2
(P926L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(E954G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group N
+4 more
GLikely benign
PALB2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GLikely benign
PALB2
(D101E)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group N
+2 more
GUncertain significance
PALB2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PALB2
(S380fs)
Deletion
(frameshift variant)
Familial cancer of breast
+4 more
GPathogenic
PALB2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PALB2
(Q377P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
PALB2
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group N
+3 more
GConflicting classifications of pathogenicity
PALB2
(I676L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
PALB2
(R510S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
PALB2
(K974E)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
PALB2
(K601R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
PALB2
(S201R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
PALB2
(A323V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
PALB2
(A447E)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
PALB2
(K745R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group N
+3 more
GConflicting classifications of pathogenicity
PALB2
(P240T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PALB2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PALB2
(V1073F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(I941V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PALB2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
PALB2
(V925A)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+3 more
GBenign/Likely benign
PALB2
(K543T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
PALB2
(N497fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
PALB2
Deletion
(frameshift variant)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
PALB2
(L1074V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
PALB2
(P1009S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GUncertain significance
PALB2
(S804F)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+3 more
GLikely benign
PALB2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+6 more
GLikely benign
PALB2
(R170S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PALB2
(C755R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(C1109R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(E744G)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
PALB2
(T710M)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
PALB2
(Y910*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
PALB2
(T1099M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
PALB2
(D498N)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
PALB2
(A406V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PALB2
(S792*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group N
+1 more
GPathogenic/Likely pathogenic
PALB2
(T513A)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group N
+4 more
GUncertain significance
PALB2
(R566C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
PALB2
(K43E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PALB2
(A587T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(S461R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
PALB2
(R945fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group N
+2 more
GPathogenic/Likely pathogenic
PALB2
(R825G)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
PALB2
(Q36*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+4 more
GPathogenic
PALB2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PALB2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PALB2
Microsatellite
(intron variant)
not provided
+4 more
GBenign/Likely benign
PALB2
Single nucleotide variant
(intron variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
PALB2
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PALB2
(A38G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group N
+2 more
GUncertain significance
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