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Links from MedGen

Items: 1 to 100 of 23607

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAD50
Duplication
(splice donor variant)
Familial cancer of breast
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GBenign/Likely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Indel
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Deletion
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Deletion
(intron variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GBenign
BARD1
(G508fs +3 more)
Deletion
(frameshift variant +2 more)
Familial cancer of breast
GPathogenic
PALB2
Indel
(nonsense +1 more)
Familial cancer of breast
GPathogenic
ATM
Indel
(splice donor variant)
Familial cancer of breast
GLikely pathogenic
ATM
(S2fs)
Duplication
(frameshift variant)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(L2760fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
ATM
(S1357fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(Q2729fs)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
BARD1
(W127fs +1 more)
Deletion
(frameshift variant +2 more)
Familial cancer of breast
GPathogenic
PALB2
(D1063fs +10 more)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Deletion
(splice acceptor variant +1 more)
Familial cancer of breast
GLikely pathogenic
PALB2
(S362fs +2 more)
Insertion
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
ATM
(L1189fs)
Indel
(frameshift variant)
Familial cancer of breast
GPathogenic
ATM, C11orf65
Deletion
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Insertion
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Deletion
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Duplication
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM, C11orf65
Deletion
(intron variant)
Familial cancer of breast
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GBenign
ATM
Deletion
(intron variant)
Familial cancer of breast
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
PALB2
(Q211fs +2 more)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
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