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Items: 1 to 100 of 2014

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
LOC129932493, LOC129932494
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
LOC129932930, LOC129932931
+967 more
Copy number gain
See cases
GPathogenic
LOC129932702, LOC129932703
+954 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+954 more
Copy number gain
See cases
GPathogenic
LOC129932675, LOC129932676
+952 more
Copy number gain
See cases
GPathogenic
ADSS2, AGT
+951 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+949 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+869 more
Copy number gain
See cases
GPathogenic
OR2T27, OR2T29
+655 more
Copy number gain
See cases
GPathogenic
LOC126806063, LOC126806064
+378 more
Copy number loss
See cases
GPathogenic
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
LOC129932908, LOC129932909
+270 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ACTN2, ADSS2
+301 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+282 more
Copy number loss
See cases
GPathogenic
AKT3, AKT3-IT1
+55 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+278 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+277 more
Copy number loss
See cases
GPathogenic
BECN2, CHML
+35 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+276 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+276 more
Copy number loss
See cases
GPathogenic
BECN2, CHML
+35 more
Copy number gain
See cases
GUncertain significance
SNORA100, SPMIP3
+274 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
LOC128598893, LOC128598894
+273 more
Copy number gain
See cases
GPathogenic
LOC122152349, LOC122152350
+272 more
Copy number loss
See cases
GPathogenic
BECN2, CHML
+29 more
Copy number gain
See cases
GUncertain significance
OR11L1, OR13G1
+264 more
Copy number loss
See cases
GPathogenic
CHML, FH
+5 more
Copy number gain
See cases
GUncertain significance
ADSS2, AHCTF1
+183 more
Copy number loss
See cases
GPathogenic
FH
Microsatellite
not provided
GBenign
FH
Single nucleotide variant
not provided
GLikely benign
FH
Single nucleotide variant
not provided
GLikely benign
FH
Deletion
Fumarase deficiency
GPathogenic
FH, LOC129932888
Deletion
Fumarase deficiency
GPathogenic
FH
Single nucleotide variant
Hereditary leiomyomatosis and renal cell cancer
+1 more
GConflicting classifications of pathogenicity
FH
Deletion
(3 prime UTR variant)
Hereditary leiomyomatosis and renal cell cancer
+2 more
GBenign/Likely benign
FH
Single nucleotide variant
(3 prime UTR variant)
Hereditary leiomyomatosis and renal cell cancer
+1 more
GUncertain significance
FH
Single nucleotide variant
(3 prime UTR variant)
Hereditary leiomyomatosis and renal cell cancer
+1 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(3 prime UTR variant)
Hereditary leiomyomatosis and renal cell cancer
+1 more
GUncertain significance
FH
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
FH
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
FH, LOC129932888
Deletion
Fumarase deficiency
GPathogenic
FH
Deletion
Fumarase deficiency
GPathogenic
FH
Deletion
Fumarase deficiency
GPathogenic
FH, LOC129932888
Duplication
Fumarase deficiency
GUncertain significance
FH, LOC129932888
Duplication
Fumarase deficiency
GUncertain significance
FH
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
FH
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
FH
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
FH
Single nucleotide variant
(stop lost)
Hereditary cancer-predisposing syndrome
GUncertain significance
FH
(K510R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(K510E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(K510Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(P509L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
FH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FH
(G508D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(G508S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
FH
(G508C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(G508R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(L507del)
Deletion
(inframe_deletion +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
FH
(L507Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FH
(L507P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
FH
(M506I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(M506I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(M506R)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GUncertain significance
FH
(M506V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FH
Insertion
(inframe_insertion)
not provided
GUncertain significance
FH
(P503R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(P503fs)
Duplication
(frameshift variant)
Hereditary leiomyomatosis and renal cell cancer
+2 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
FH
(K502E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
FH
(V501I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
(W500C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
FH
(W500*)
Single nucleotide variant
(nonsense)
Hereditary leiomyomatosis and renal cell cancer
+2 more
GPathogenic
FH
(W500*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FH
(W500R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
(E499fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FH
(E499*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FH
(E499K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
FH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
FH
(D498G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FH
(F497L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
(E495fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
FH
(Q496*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
FH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FH
(E495G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(E495*)
Single nucleotide variant
(nonsense)
Fumarase deficiency
GLikely pathogenic
FH
(E495fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
FH
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
FH
(A494E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(A494V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
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