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Items: 1 to 100 of 136

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
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
SLC15A1
(R668Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(A667G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(L655F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(V633M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(Q619R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(S616L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(M614I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(Q609E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(M581V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(N577S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(C539R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(F528L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(I525V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC15A1
(G524D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(M502T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC15A1
(P467S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(H460L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(T429I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC15A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC15A1
(V378M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(M361V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(V334M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(A308G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(T281M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC15A1
(R272Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(E267G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(H250R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(G234D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(Q229H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(P228L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(Q195K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(M183I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC15A1
(P182S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(L175F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(K157R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(F151S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(V122M)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC15A1
(I93T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(S88T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC15A1
(S76L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(A54T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(V20M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC15A1
(S15N)
Single nucleotide variant
(missense variant)
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
CLYBL, DOCK9
+13 more
Deletion
Holoprosencephaly 5
GPathogenic
ABHD13, ADPRHL1
+76 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
DOCK9, FARP1
+2 more
Copy number gain
not provided
GUncertain significance
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
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