U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009917, LOC130009918
+1288 more
Copy number gain
See cases
GPathogenic
ARHGEF7-AS1, ARHGEF7-AS2
+1268 more
Copy number gain
See cases
GPathogenic
LOC124946344, LOC124946345
+706 more
Copy number gain
See cases
GPathogenic
LOC130010101, LOC130010102
+705 more
Copy number gain
See cases
GPathogenic
LOC126861817, LOC126861818
+344 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
LOC130010040, LOC130010041
+236 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+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
CLYBL, LOC112163637
(A2G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, LOC112163637
(R4C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, LOC112163637
(R11G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, LOC112163637
(A13V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, LOC112163637
(A17S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, LOC112163637
(A17T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, LOC112163637
(A17V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC112163637, CLYBL
(L18V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(R45Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(D73Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(R87Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(L94V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(R127Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(P136R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(V189I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CLYBL, CLYBL-AS3
(D164H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(V167I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL-AS3, CLYBL
(R174Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(S215G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(T185N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(I232T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(R225Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(A263T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(M230T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(W293C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(A300P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(D320V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(T298M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLYBL, CLYBL-AS3
(A300T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD13, ADPRHL1
+66 more
Copy number gain
not provided
GPathogenic
ABHD13, ARGLU1
+34 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+97 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
not specified
GPathogenic
ABCC4, ACOD1
+81 more
Copy number loss
not specified
GPathogenic
PCCA, POGLUT2
+50 more
Copy number loss
not provided
GPathogenic
ANKRD10, ANKRD10-IT1
+98 more
Copy number loss
not provided
GPathogenic
ABCC4, ACOD1
+78 more
Copy number loss
not provided
GPathogenic
GPR18, GRTP1
+121 more
Copy number gain
not provided
GPathogenic
TBC1D4, TEX29
+129 more
Copy number gain
not provided
GPathogenic
DZIP1, ERCC5
+35 more
Copy number gain
See cases
GPathogenic
CLYBL, DOCK9
+13 more
Deletion
Holoprosencephaly 5
GPathogenic
BIVM, BIVM-ERCC5
+18 more
Duplication
not provided
GUncertain significance
ABHD13, ADPRHL1
+67 more
Copy number gain
not provided
GPathogenic
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
ABHD13, ARGLU1
+25 more
Copy number loss
not provided
GPathogenic
BIVM-ERCC5, CCDC168
+40 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+116 more
Copy number gain
not provided
GPathogenic
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+93 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ABHD13, ADPRHL1
+62 more
Copy number loss
not specified
GPathogenic
ABCC4, CLDN10
+18 more
Copy number loss
not specified
GUncertain significance
ABCC4, ABHD13
+96 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+97 more
Copy number gain
not specified
GPathogenic
DCUN1D2, ERCC5
+101 more
Copy number loss
not specified
GPathogenic
MIR18A, MIR19A
+104 more
Copy number gain
not specified
GPathogenic
ACOD1, ADPRHL1
+129 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
GTF2F2, PRR20D
+175 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
CLYBL, DOCK9
+11 more
Deletion
Lobar holoprosencephaly
GPathogenic
ITGBL1, LIG4
+58 more
Deletion
Distal monosomy 13q
GPathogenic
ABCC4, CLDN10
+41 more
Deletion
Holoprosencephaly 5
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
CLYBL, TM9SF2
+3 more
Deletion
Holoprosencephaly 5
GPathogenic
CLYBL
Copy number loss
not provided
GLikely benign
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
BIVM, BIVM-ERCC5
+33 more
Copy number loss
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination