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Items: 1 to 100 of 55520

  • The following term was not found in ClinVar: Ala1693_phe1695delinsVal.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX7
(E199G +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
NBPF3
(M1T)
Single nucleotide variant
(missense variant +3 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
ID3
(S49T)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
PUM1
(D77H)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
PTCH2
(P773fs)
Duplication
(frameshift variant)
Familial cancer of breast
GLikely pathogenic
MUTYH
(R534Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Gastric cancer
+4 more
GBenign/Likely benign
MUTYH
(R519Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MUTYH
(S269fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
MUTYH
(S346W +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+3 more
GUncertain significance
MUTYH
(S324L +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MUTYH
Single nucleotide variant
(splice acceptor variant)
MUTYH-related condition
+5 more
GConflicting classifications of pathogenicity
MUTYH
(R307Q +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MUTYH
(T232S +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MUTYH
(A224D +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MUTYH
(R185W +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MUTYH
(R184Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MUTYH
(R97Q +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MUTYH
(P72L +5 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(R266H +5 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
RAD54L
(D21G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GBenign
RAD54L
(P32R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RAD54L
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
RAD54L
(A72P)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
RAD54L
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
RAD54L
(R154W)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
(R202C +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
(E256V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
RAD54L
(G108fs +1 more)
Deletion
(frameshift variant)
Familial cancer of breast
GUncertain significance
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GBenign
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GBenign
RAD54L
(R185Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
RAD54L
(R200W +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian failure
+1 more
GConflicting classifications of pathogenicity
RAD54L
Deletion
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
Indel
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
(T237I +1 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
RAD54L
(P253fs +1 more)
Deletion
(frameshift variant)
Familial cancer of breast
GLikely pathogenic
RAD54L
Single nucleotide variant
(synonymous variant)
Hereditary breast ovarian cancer syndrome
+2 more
GBenign/Likely benign
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
(D285del +1 more)
Deletion
(inframe_deletion)
Hereditary breast ovarian cancer syndrome
GUncertain significance
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
(T328I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RAD54L
(S520L +1 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
RAD54L
(R354C +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+2 more
GBenign/Likely benign
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
Deletion
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
Single nucleotide variant
(synonymous variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
RAD54L
(I403T +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+2 more
GLikely benign
RAD54L
(M410T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LRRC41, RAD54L
(H496Y +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RAD54L, LRRC41
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
LRRC41, RAD54L
(R508H +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
LRRC41, RAD54L
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GBenign
LRRC41, RAD54L
(F553V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GUncertain significance
LRRC41, RAD54L
(Q737* +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial cancer of breast
GUncertain significance
NOTCH2
(P152L)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
CHD1L
(L138P +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
AIM2
Single nucleotide variant
(stop lost)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
CDC73
(R91*)
Single nucleotide variant
(nonsense)
Hyperparathyroidism 1
+2 more
GPathogenic
EXO1
(G274R)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
LOC126806176, LOC126806177
+1047 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933242, LOC129933243
+1631 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1400 more
Copy number gain
See cases
GPathogenic
LOC129934199, LOC129934200
+2457 more
Copy number gain
See cases
GBenign
ABHD1, ADCY3
+321 more
Copy number loss
See cases
GPathogenic
BABAM2, LOC100505736
+3 more
Copy number loss
See cases
GUncertain significance
BABAM2
(N109D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BABAM2
(D209G)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
BABAM2
(Y220C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BABAM2
(H227Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BABAM2
(V287M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BABAM2
(P348L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BABAM2, LOC100505716
+1 more
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
BABAM2
(P374L +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BABAM2
(R395K +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
BIRC6
(L3279F +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
EPCAM
(P84S)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
EPCAM
(D130Y)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
EPCAM
(V212G)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
MSH2
(P5Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
MSH2
(P27L)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH2
(G40S)
Single nucleotide variant
(missense variant +1 more)
MSH2-related condition
+6 more
GConflicting classifications of pathogenicity
MSH2
(F42L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MSH2
(S87C +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MSH2
(V89A +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MSH2
(R96C +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MSH2
(Q130fs +1 more)
Microsatellite
(frameshift variant)
Lynch syndrome
GPathogenic
MSH2
(V150F +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MSH2
(I169V +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
MSH2
(P349A +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
MSH2
(Q419K +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
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