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Items: 1 to 100 of 3702

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
LOC113219472, LOC113633876
+131 more
Copy number loss
Autism spectrum disorder
GPathogenic
AASS, ANKRD7
+248 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
CAPZA2, CAV1
+98 more
Copy number loss
See cases
GPathogenic
ASZ1, CAPZA2
+131 more
Copy number loss
See cases
GPathogenic
CAV1, CAV2
+48 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Renal cell carcinoma
+1 more
GBenign
COMETT, MET
Single nucleotide variant
(no sequence alteration)
Autism, susceptibility to, 9
GUncertain significance
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Papillary renal cell carcinoma type 1
GBenign
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Papillary renal cell carcinoma type 1
GUncertain significance
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Papillary renal cell carcinoma type 1
GUncertain significance
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Papillary renal cell carcinoma type 1
GUncertain significance
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Papillary renal cell carcinoma type 1
GUncertain significance
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Papillary renal cell carcinoma type 1
GUncertain significance
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Papillary renal cell carcinoma type 1
GUncertain significance
COMETT, MET
Single nucleotide variant
(5 prime UTR variant)
Papillary renal cell carcinoma type 1
GUncertain significance
COMETT, MET
Deletion
(intron variant)
not provided
GLikely benign
MET
Single nucleotide variant
(intron variant)
not specified
Gnot provided
MET
Single nucleotide variant
(intron variant)
not specified
Gnot provided
MET
Single nucleotide variant
(intron variant)
not specified
GLikely benign
MET
Single nucleotide variant
(intron variant)
Papillary renal cell carcinoma type 1
+2 more
GBenign
MET
Single nucleotide variant
(intron variant)
not specified
GLikely benign
MET
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
MET
(M1fs)
Deletion
(frameshift variant +2 more)
Renal cell carcinoma
+1 more
GUncertain significance
MET
Duplication
Papillary renal cell carcinoma type 1
GUncertain significance
LOC126860157, LOC126860158
+45 more
Duplication
Papillary renal cell carcinoma type 1
GUncertain significance
MET
Single nucleotide variant
(5 prime UTR variant +1 more)
Papillary renal cell carcinoma type 1
GLikely benign
MET
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
MET
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MET
Duplication
Papillary renal cell carcinoma type 1
GUncertain significance
MET
(A3T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
MET
(A3V)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+1 more
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
GLikely benign
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GLikely benign
MET
(A5S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MET
(A5T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 97
+2 more
GConflicting classifications of pathogenicity
MET
(V6M)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+1 more
GUncertain significance
MET
(V6L)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+3 more
GUncertain significance
MET
(V6G)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
+1 more
GLikely benign
MET
(A8S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MET
(A8T)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+2 more
GConflicting classifications of pathogenicity
MET
(P9fs)
Duplication
(frameshift variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
MET
(P9S)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(P9T)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(P9L)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
MET
(G10D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
MET
(I11V)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(L12F)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+1 more
GConflicting classifications of pathogenicity
MET
(L12I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
+1 more
GConflicting classifications of pathogenicity
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
+2 more
GBenign/Likely benign
MET
(V13L)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(V13L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MET
(V13M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MET
(V13A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MET
(L14F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
GLikely benign
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
+1 more
GLikely benign
MET
(L15P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
MET
(F16C)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+1 more
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
MET
(T17S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MET
(T17I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Papillary renal cell carcinoma type 1
GLikely benign
MET
(L18V)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(L18M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
GLikely benign
MET
(V19L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
+1 more
GLikely benign
MET
(Q20K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MET
(R21G)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(R21K)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+2 more
GConflicting classifications of pathogenicity
MET
(S22I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MET
(S22R)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(S22R)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
+1 more
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
GLikely benign
MET
(G24E)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
MET
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
MET
(E25K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MET
(E25*)
Single nucleotide variant
(nonsense +1 more)
Renal cell carcinoma
GUncertain significance
MET
Single nucleotide variant
(synonymous variant +1 more)
Renal cell carcinoma
GLikely benign
MET
(C26R)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(C26Y)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MET
(K27*)
Single nucleotide variant
(nonsense +1 more)
Renal cell carcinoma
GUncertain significance
MET
(K27R)
Indel
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
MET
(K27R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MET
(E28Q)
Single nucleotide variant
(missense variant +1 more)
Renal cell carcinoma
GUncertain significance
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