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Items: 1 to 100 of 1155

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTOR
(S2215Y)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
MTOR
(S2215F)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
NEXN
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
NRAS
(Q61H)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+1 more
GConflicting classifications of pathogenicity
NRAS
(Q61L)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
NRAS
(Q61P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NRAS
(Q61R)
Single nucleotide variant
(missense variant)
Large congenital melanocytic nevus
+3 more
GConflicting classifications of pathogenicity
NRAS
(Q61K)
Single nucleotide variant
(missense variant)
Large congenital melanocytic nevus
+2 more
GConflicting classifications of pathogenicity
NRAS
(G13D)
Single nucleotide variant
(missense variant)
Acute megakaryoblastic leukemia in down syndrome
+2 more
GPathogenic/Likely pathogenic
NRAS
(G13R)
Single nucleotide variant
(missense variant)
Noonan syndrome 6
GLikely pathogenic
NRAS
(G12A)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GPathogenic/Likely pathogenic
NRAS
(G12V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NRAS
(G12D)
Single nucleotide variant
(missense variant)
NRAS-related condition
+5 more
GPathogenic/Likely pathogenic
NRAS
(G12S)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GPathogenic
NRAS
(G12R)
Single nucleotide variant
(missense variant)
Noonan syndrome 6
+2 more
GPathogenic
NRAS
(G12C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RYR2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SOS1
(D1200E +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GLikely benign
MSH2
(A53T)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MSH2
(P349L +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GPathogenic
MSH6
(I725M +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MSH6
(G1316E +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
MSH6
(E1335A +2 more)
Single nucleotide variant
(missense variant)
MSH6-related condition
+6 more
GConflicting classifications of pathogenicity
MSH6
(E1335D +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
SF3B1
(K666Q)
Single nucleotide variant
(missense variant)
Breast neoplasm
+3 more
GLikely pathogenic
SF3B1
(K666E)
Single nucleotide variant
(missense variant)
Breast neoplasm
+4 more
GLikely pathogenic
IDH1
(R132L)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+14 more
GPathogenic/Likely pathogenic
IDH1
(R132H)
Single nucleotide variant
(missense variant)
Metaphyseal chondromatosis
+3 more
GPathogenic/Likely pathogenic
IDH1
(R132S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
IDH1
(R132G)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+14 more
GPathogenic/Likely pathogenic
IDH1
(R132C)
Single nucleotide variant
(missense variant)
Maffucci syndrome
+4 more
GPathogenic/Likely pathogenic
RAF1
(L613V +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
RAF1
(S257W +3 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
MLH1
(G67V)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GConflicting classifications of pathogenicity
MLH1
(S131* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GPathogenic
MLH1
Single nucleotide variant
(splice acceptor variant)
Lynch syndrome
GLikely pathogenic
MLH1
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
GPathogenic/Likely pathogenic
MLH1
Single nucleotide variant
(splice donor variant)
Lynch syndrome
GPathogenic
MLH1
(T347N +4 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
MLH1
(G174D +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MLH1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
MLH1
(F626S +5 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GConflicting classifications of pathogenicity
MLH1
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
MLH1
(A681T +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(R687Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MLH1
(V720G +8 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MLH1
(I499fs +8 more)
Deletion
(frameshift variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(S33Y +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+13 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(G34V +1 more)
Single nucleotide variant
(missense variant)
Melanoma
+11 more
GConflicting classifications of pathogenicity
CTNNB1, LOC126806658
(T41A +1 more)
Single nucleotide variant
(missense variant)
Desmoid tumor
GLikely pathogenic
BAP1
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
BAP1
(Q436fs)
Deletion
(frameshift variant)
BAP1-related tumor predisposition syndrome
GPathogenic
MRAS
(G23V)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 11
+1 more
GPathogenic
PIK3CA
(V344M)
Single nucleotide variant
(missense variant)
Cowden syndrome
+3 more
GPathogenic
PIK3CA
(V344A)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+7 more
GLikely pathogenic
PIK3CA
(V344G)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+8 more
GLikely pathogenic
PIK3CA
(E545Q)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+26 more
GPathogenic/Likely pathogenic; drug response
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+4 more
GPathogenic/Likely pathogenic
PIK3CA
(E545A +1 more)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 5
GPathogenic
PIK3CA
(E545A)
Single nucleotide variant
(missense variant)
Neoplasm of ovary
GPathogenic
PIK3CA
(E545G)
Single nucleotide variant
(missense variant)
Melanoma
+26 more
GPathogenic/Likely pathogenic
PIK3CA
(E545D)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+1 more
GPathogenic/Likely pathogenic
PIK3CA
(Q546K)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with mainly venous malformation with capillary component
+1 more
GConflicting classifications of pathogenicity
PIK3CA
(Q546E)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+13 more
GPathogenic/Likely pathogenic
PIK3CA
(Q546L)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+12 more
GPathogenic/Likely pathogenic
PIK3CA
(Q546P)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+13 more
GPathogenic/Likely pathogenic
PIK3CA
(Q546R)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+2 more
GPathogenic
PIK3CA
(Q546H)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+12 more
GLikely pathogenic
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+17 more
GPathogenic
PIK3CA
(H1047L)
Single nucleotide variant
(missense variant)
Colorectal cancer
+6 more
GPathogenic
PIK3CA
(H1047R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
PIK3CA
(H1047Q)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+21 more
GLikely pathogenic
KIT
(K642E +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GPathogenic
IGFBP7
Single nucleotide variant
(splice acceptor variant)
Familial retinal arterial macroaneurysm
GPathogenic
FBXW7
(R505H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBXW7
(R479L +2 more)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+11 more
GLikely pathogenic
FBXW7
(R479P +2 more)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+11 more
GLikely pathogenic
FBXW7
(R479Q +2 more)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+11 more
GLikely pathogenic
FBXW7
(R479G +2 more)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+11 more
GLikely pathogenic
SLC45A2
Single nucleotide variant
(no sequence alteration)
not provided
GBenign
CDH12
Copy number gain
See cases
GUncertain significance
LAMA4
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+2 more
GUncertain significance
PMS2
(M622I +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GBenign
SAMD9L
(H880Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GBenign
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 7
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 3
+1 more
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 3
+1 more
GBenign/Likely benign
BRAF, LOC126860202
+3 more
Duplication
RASopathy
GUncertain significance
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
RASopathy
GLikely benign
BRAF
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 3
+1 more
GUncertain significance
BRAF
(H766del +3 more)
Deletion
(inframe_deletion +1 more)
RASopathy
GUncertain significance
BRAF
(H744Y +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(V743L +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(P712L +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+1 more
GUncertain significance
BRAF
(A740V +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(Y760C +7 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
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