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Items: 1 to 100 of 1484

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121466733, LOC121468000
+2048 more
Copy number loss
See cases
GPathogenic
LOC130010147, LOC130010148
+2049 more
Copy number gain
See cases
GPathogenic
LOC130009360, LOC130009361
+2047 more
Copy number gain
See cases
GPathogenic
LOC130009909, LOC130009910
+2044 more
Copy number gain
See cases
GPathogenic
LINC00333, LINC00343
+2045 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2040 more
Copy number gain
See cases
GPathogenic
LOC121838573, LOC121838574
+2028 more
Copy number gain
See cases
GPathogenic
URAD, USP12
+2024 more
Copy number gain
See cases
GPathogenic
LINC00462, LINC00463
+2021 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
SIAH3, SLAIN1
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+1288 more
Copy number gain
See cases
GPathogenic
LINC00550, LINC00552
+1268 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+706 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+705 more
Copy number gain
See cases
GPathogenic
LOC130010067, LOC130010068
+344 more
Copy number gain
See cases
GPathogenic
LOC132090867, MBNL2
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
LOC130009970, LOC130009971
+638 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+348 more
Copy number loss
See cases
GPathogenic
LOC130010039, LOC130010040
+369 more
Copy number gain
See cases
GPathogenic
DOCK9-DT, EFNB2
+544 more
Copy number gain
See cases
GPathogenic
LOC124946325, LOC124946326
+271 more
Copy number loss
See cases
GPathogenic
BIVM, BIVM-ERCC5
+184 more
Copy number gain
See cases
GPathogenic
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
CLYBL, CLYBL-AS1
+95 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
PCCA
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
PCCA
Single nucleotide variant
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
PCCA
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
PCCA
Single nucleotide variant
(5 prime UTR variant +1 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(5 prime UTR variant +1 more)
Propionic acidemia
GUncertain significance
PCCA
(M1V)
Single nucleotide variant
(missense variant +3 more)
Propionic acidemia
GUncertain significance
PCCA
(M1fs)
Duplication
(frameshift variant +3 more)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCA
(M1K)
Single nucleotide variant
(missense variant +3 more)
Propionic acidemia
GPathogenic
PCCA
(M1T)
Single nucleotide variant
(missense variant +3 more)
not specified
+1 more
GUncertain significance
PCCA
(A2P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(5 prime UTR variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(F4L)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(V6fs)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic
PCCA
(W5*)
Single nucleotide variant
(nonsense +2 more)
Propionic acidemia
GUncertain significance
PCCA
(V6A)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(G7R)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
(R16fs)
Duplication
(frameshift variant +2 more)
Propionic acidemia
GPathogenic
PCCA
(T8fs)
Deletion
(5 prime UTR variant +2 more)
Propionic acidemia
GLikely pathogenic
PCCA
(G7A)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
+2 more
GBenign/Likely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(P10L)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
(P10Q)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(L11Q)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GBenign
PCCA
(A14fs)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PCCA
(G15*)
Single nucleotide variant
(nonsense +2 more)
Propionic acidemia
GPathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(R17fs)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(R17H)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
(G18R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(W20R)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
(W20R)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
(P21S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
PCCA
(P21L)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(P22S)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
(P22L)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(Q23P)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(Q23fs)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(M26T)
Single nucleotide variant
(missense variant +2 more)
Propionic acidemia
GUncertain significance
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
PCCA
(A29fs)
Deletion
(frameshift variant +2 more)
Propionic acidemia
GPathogenic
PCCA
Single nucleotide variant
(synonymous variant +2 more)
Propionic acidemia
GLikely benign
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