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Items: 1 to 100 of 775

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
CTNNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTNNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTNNB1
Deletion
(intron variant)
not provided
GLikely benign
CTNNB1
Single nucleotide variant
(5 prime UTR variant)
CTNNB1-related disorder
GLikely benign
CTNNB1
(M1V)
Single nucleotide variant
(missense variant +2 more)
CTNNB1-related syndromic intellectual disability
GUncertain significance
CTNNB1
(A2G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CTNNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTNNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTNNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTNNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTNNB1, LOC126806658
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTNNB1, LOC126806658
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126806658, CTNNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTNNB1, LOC126806658
Duplication
(intron variant)
not provided
GLikely benign
CTNNB1, LOC126806658
Single nucleotide variant
(intron variant)
not provided
+7 more
GBenign/Likely benign
CTNNB1, LOC126806658
(A5G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CTNNB1, LOC126806658
(M8T +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely benign
CTNNB1, LOC126806658
(E9D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTNNB1, LOC126806658
(A13T +1 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(M14V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
(M14T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
(E15K +1 more)
Single nucleotide variant
(missense variant)
Severe intellectual disability-progressive spastic diplegia syndrome
GUncertain significance
LOC126806658, CTNNB1
(E15D +1 more)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTNNB1, LOC126806658
(A20V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTNNB1, LOC126806658
(A21T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
Deletion
(inframe_deletion)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(V22A +1 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(S16fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
CTNNB1, LOC126806658
(S16G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
Deletion
(inframe_indel)
Neoplasm
OUncertain significance
CTNNB1, LOC126806658
(H17L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
Deletion
(inframe_deletion)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(Q26R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
(Q21fs +1 more)
Duplication
(frameshift variant)
Severe intellectual disability-progressive spastic diplegia syndrome
GPathogenic
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTNNB1, LOC126806658
Deletion
(inframe_indel)
Hepatoblastoma
Gother
CTNNB1, LOC126806658
(Q21H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
Deletion
(inframe_deletion)
Juvenile nasopharyngeal angiofibroma
GLikely pathogenic
CTNNB1, LOC126806658
(S22C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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)
Craniopharyngioma
+11 more
GPathogenic/Likely pathogenic; other
OOncogenic
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)
Carcinoma of esophagus
+10 more
GLikely pathogenic
CTNNB1, LOC126806658
(S33A +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+10 more
GLikely pathogenic
CTNNB1, LOC126806658
(S33P +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+10 more
GLikely pathogenic
CTNNB1, LOC126806658
(S33C +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+14 more
GLikely pathogenic; other
OOncogenic
CTNNB1, LOC126806658
(S33F +1 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+13 more
GPathogenic/Likely pathogenic; other
CTNNB1, LOC126806658
(S33Y +1 more)
Single nucleotide variant
(missense variant)
Pancreatic adenocarcinoma
+13 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(G34R +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
CTNNB1, LOC126806658
(G34R +1 more)
Single nucleotide variant
(missense variant)
Pilomatrixoma
+2 more
GPathogenic/Likely 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)
Medulloblastoma
+9 more
GPathogenic/Likely pathogenic; other
CTNNB1, LOC126806658
(G34V +1 more)
Single nucleotide variant
(missense variant)
Hepatoblastoma
+11 more
GConflicting classifications of pathogenicity
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTNNB1, LOC126806658
(S37A +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+9 more
GLikely pathogenic
CTNNB1, LOC126806658
(S37P +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of stomach
+9 more
GLikely pathogenic
CTNNB1, LOC126806658
(S37Y +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of stomach
+10 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(S37F +1 more)
Single nucleotide variant
(missense variant)
Pilomatrixoma
+11 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(S37C +1 more)
Single nucleotide variant
(missense variant)
Lung adenocarcinoma
+11 more
GPathogenic/Likely pathogenic
CTNNB1, LOC126806658
(G31fs +1 more)
Deletion
(frameshift variant)
CTNNB1-related disorder
GLikely pathogenic
CTNNB1, LOC126806658
(T40S +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
CTNNB1, LOC126806658
(T40A +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of stomach
GLikely pathogenic
LOC126806658, CTNNB1
(T40P +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
CTNNB1, LOC126806658
(T40I +1 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
LOC126806658, CTNNB1
(T40S +1 more)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
CTNNB1, LOC126806658
(T41A +1 more)
Single nucleotide variant
(missense variant)
Desmoid tumor
GLikely pathogenic
CTNNB1, LOC126806658
(T41S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTNNB1, LOC126806658
(T41N +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+7 more
GLikely pathogenic
CTNNB1, LOC126806658
(T41I +1 more)
Single nucleotide variant
(missense variant)
Desmoid disease, hereditary
GLikely pathogenic
CTNNB1, LOC126806658
(T35A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
(T42I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CTNNB1, LOC126806658
(S45del +1 more)
Deletion
(inframe_deletion)
Nephroblastoma
+2 more
GPathogenic; other
OOncogenic
CTNNB1, LOC126806658
(S38fs +1 more)
Deletion
(frameshift variant)
Severe intellectual disability-progressive spastic diplegia syndrome
GPathogenic
CTNNB1, LOC126806658
(S45A +1 more)
Single nucleotide variant
(missense variant)
Disease
+1 more
GLikely pathogenic
CTNNB1, LOC126806658
(S45P +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+11 more
GPathogenic/Likely pathogenic
OOncogenic
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
CTNNB1, LOC126806658
(S45F +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+11 more
GPathogenic/Likely pathogenic; other
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTNNB1, LOC126806658
(N44S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
(E47* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CTNNB1, LOC126806658
(E48* +1 more)
Single nucleotide variant
(nonsense)
Severe intellectual disability-progressive spastic diplegia syndrome
GPathogenic
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTNNB1, LOC126806658
(T52I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806658, CTNNB1
(S53C +1 more)
Single nucleotide variant
(missense variant)
CTNNB1-related disorder
+1 more
GUncertain significance
CTNNB1, LOC126806658
(Q54* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CTNNB1, LOC126806658
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126806658, CTNNB1
(W66* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CTNNB1, LOC126806658
(S64fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
CTNNB1, LOC126806658
(T75I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
(Q69E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
(A73P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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