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Items: 1 to 100 of 1713

  • The following term was not found in ClinVar: Lys752_gly759del.
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
MTOR
(S2215T)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+6 more
GLikely pathogenic
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
(G13V)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+10 more
GPathogenic/Likely pathogenic
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
+2 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
+3 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)
Lynch syndrome 5
+3 more
GUncertain significance
MSH6
(N487H +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 5
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)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH6
(E1335D +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 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
SF3B1
(R625H)
Single nucleotide variant
(missense variant)
Uveal melanoma
GLikely pathogenic
SF3B1
(R625G)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+3 more
GLikely pathogenic
SF3B1
(R625C)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+3 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
CNOT9
(S87P)
Single nucleotide variant
(missense variant +1 more)
Gastric adenocarcinoma
+4 more
GLikely pathogenic
CNOT9
(S87C)
Single nucleotide variant
(missense variant +1 more)
Prostate adenocarcinoma
+4 more
GLikely pathogenic
CNOT9
(P131S)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
GLikely pathogenic
CNOT9
(P131L)
Single nucleotide variant
(missense variant)
CNOT9-associated neurodevelopmental disorder
GLikely pathogenic
RAF1
(L613V +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
RAF1
(L489F +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
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
(G114V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colon cancer
GUncertain significance
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
(L559R +5 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GUncertain significance
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
+3 more
GUncertain significance
MLH1
(V720G +8 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
MLH1
(I499fs +8 more)
Deletion
(frameshift variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(D32N +1 more)
Single nucleotide variant
(missense variant)
Juvenile nasopharyngeal angiofibroma
GPathogenic
CTNNB1, LOC126806658
(D32H +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+8 more
GLikely pathogenic
CTNNB1, LOC126806658
(D32Y +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+10 more
GPathogenic/Likely pathogenic; other
CTNNB1, LOC126806658
(D32V +1 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+8 more
GLikely pathogenic
CTNNB1, LOC126806658
(D32A +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+8 more
GLikely pathogenic
CTNNB1, LOC126806658
(D32G +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+10 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(S33T +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+10 more
GLikely pathogenic
CTNNB1, LOC126806658
(S33A +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+10 more
GLikely pathogenic
CTNNB1, LOC126806658
(S33P +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+10 more
GLikely pathogenic
CTNNB1, LOC126806658
(S33C +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+13 more
GLikely pathogenic; other
CTNNB1, LOC126806658
(S33F +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+13 more
GPathogenic/Likely pathogenic; other
CTNNB1, LOC126806658
(S33Y +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+13 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(G34R +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
CTNNB1, LOC126806658
(G34A +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+7 more
GLikely pathogenic
CTNNB1, LOC126806658
(G34E +1 more)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+9 more
GPathogenic/Likely pathogenic; other
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
CTNNB1, LOC126806658
(T41N +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+7 more
GLikely pathogenic
LOC126806658, CTNNB1
(T41I +1 more)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+8 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(S45P +1 more)
Single nucleotide variant
(missense variant)
Disease
+10 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(S45C +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+8 more
GLikely pathogenic
CTNNB1, LOC126806658
(S45Y +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+8 more
GPathogenic/Likely pathogenic
LOC126806658, CTNNB1
(S45F +1 more)
Single nucleotide variant
(missense variant)
Adrenal cortex carcinoma
+11 more
GPathogenic/Likely pathogenic; other
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
MRAS
(Q71R)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 11
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)
not provided
+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
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