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Items: 1 to 100 of 116

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, CLDN10
+168 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
DOCK9, DOCK9-AS1
+98 more
Copy number gain
See cases
GUncertain significance
BIVM, BIVM-ERCC5
+184 more
Copy number gain
See cases
GPathogenic
FARP1, RNF113B
(K321T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(P296L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(P296S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FARP1, RNF113B
(P288L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(E248K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(D216N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(P193S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(R188H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(A179G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(S169L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(S152R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(E121K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(E119K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(G104E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(R98H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(R98C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(D91N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(E84A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(H77Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(P59R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(E45K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(R36H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(K35E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(R27L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(R27W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(A14T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FARP1, RNF113B
(A2P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
FARP1, RNF113B
+1 more
Copy number gain
not provided
GUncertain significance
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
FARP1, IPO5
+1 more
Copy number gain
not provided
GUncertain significance
FARP1, IPO5
+1 more
Copy number gain
not provided
GUncertain significance
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
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
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
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
BIVM, BIVM-ERCC5
+33 more
Copy number loss
not provided
GPathogenic
CDC16, NALCN
+142 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+129 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+86 more
Copy number gain
not provided
GUncertain significance
FARP1, IPO5
+1 more
Copy number gain
not provided
GUncertain significance
ABCC4, ABHD13
+103 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+49 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
See cases
GPathogenic
BIVM, BIVM-ERCC5
+26 more
Copy number gain
See cases
GLikely pathogenic
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