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Links from MedGen

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(E1325*)
Single nucleotide variant
(nonsense)
Breast cancer, susceptibility to
GLikely pathogenic
HMMR, HMMR-AS1
(V556A +3 more)
Single nucleotide variant
(missense variant)
Breast cancer, susceptibility to
GUncertain significance
PALB2
(L433F)
Single nucleotide variant
(missense variant)
Breast cancer, susceptibility to
+1 more
GUncertain significance
PALB2
(M992fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CHEK2
(Y156* +1 more)
Single nucleotide variant
(nonsense +2 more)
Breast cancer, susceptibility to
+3 more
GPathogenic/Likely pathogenic
ATM
(W488*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
PALB2
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+3 more
GLikely pathogenic
ATM, C11orf65
(Q2971*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRCA2
(I2822fs)
Deletion
(frameshift variant)
Breast cancer, susceptibility to
GLikely pathogenic
STK11
(V143A)
Single nucleotide variant
(missense variant)
Breast cancer, susceptibility to
GUncertain significance
BRCA2
(S1342N)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA2
(T2722I)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
(Y2826F)
Single nucleotide variant
(missense variant)
Breast cancer, susceptibility to
+1 more
GUncertain significance
BRCA2
(N2051fs)
Duplication
(frameshift variant)
Breast cancer, susceptibility to
GLikely pathogenic
BRCA2
(P89Q)
Single nucleotide variant
(missense variant)
Breast cancer, susceptibility to
+1 more
GUncertain significance
BRCA2
(Y2905fs)
Duplication
(frameshift variant)
Breast cancer, susceptibility to
GLikely pathogenic
BRCA1
(I435fs +20 more)
Duplication
(frameshift variant +1 more)
Breast cancer, susceptibility to
GLikely pathogenic
BRCA1
(E1548M +75 more)
Indel
(missense variant +1 more)
Breast cancer, susceptibility to
+1 more
GUncertain significance
BRCA1
(C91Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GUncertain significance
BRCA1
(C442S +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
NBN
(E510D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHEK2
(D203* +1 more)
Duplication
(nonsense +2 more)
Prostate cancer, susceptibility to
+3 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRCA2
(E38K)
Single nucleotide variant
(missense variant)
Breast cancer, susceptibility to
+4 more
GUncertain significance
ATM
(E1072*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+4 more
GPathogenic
PALB2
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA2
(Q1295*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
ATM
(R1875*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic
PTEN
(E353del +2 more)
Microsatellite
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BRCA2
(K907E)
Single nucleotide variant
(missense variant)
Breast cancer, susceptibility to
+3 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(T1119S +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2077fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic
ATM, C11orf65
(R2993*)
Single nucleotide variant
(nonsense +1 more)
Breast cancer, susceptibility to
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(Q1017*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Microsatellite
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
PALB2
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Malignant tumor of breast
+8 more
GPathogenic/Likely pathogenic
RAD50, TH2LCRR
(R1260H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PALB2
(K142*)
Single nucleotide variant
(nonsense)
PALB2-related disorder
+5 more
GPathogenic
PALB2
Deletion
(frameshift variant)
Breast cancer, susceptibility to
+5 more
GPathogenic
ATM, C11orf65
(Q2800fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic
ATM
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Q1970*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic
BARD1
(S551* +3 more)
Single nucleotide variant
(nonsense +2 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2849*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
PALB2
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Li-Fraumeni syndrome 2
+11 more
GPathogenic/Likely pathogenic
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+14 more
GPathogenic/Likely pathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 2
+19 more
GPathogenic
RAD50
(Q799H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(E1978*)
Single nucleotide variant
(nonsense +1 more)
not provided
+6 more
GPathogenic
ATM
(W57*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic
ATM
(R447*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
PALB2
Deletion
(frameshift variant)
Fanconi anemia complementation group N
+10 more
GPathogenic
PALB2
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
PALB2
(W1038*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GPathogenic
PALB2
(Q775*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
PALB2
(L531fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
PALB2
(Q343*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic
BRCA2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PHB1
Single nucleotide variant
(3 prime UTR variant)
Breast cancer, susceptibility to
Grisk factor
KLC1, XRCC3
Single nucleotide variant
(intron variant)
Breast cancer, susceptibility to
Grisk factor
BARD1
(C557S +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+12 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele
ATM
(S49C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
(H1082fs)
Indel
(frameshift variant)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(V2424G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GPathogenic
CYP17A1, CYP17A1-AS1
(R239*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 17-alpha-monooxygenase
+1 more
GPathogenic
PALB2
(Q988*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
PALB2
(Y1183*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
APC
(I1307K +12 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
+7 more
GConflicting classifications of pathogenicity; association; risk factor
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