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Items: 1 to 100 of 466

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
VAMP7, VBP1
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
LOC130068116, LOC130068117
+2633 more
Copy number gain
See cases
GPathogenic
NAA10, NALF2
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068159, LOC130068160
+2633 more
Copy number gain
See cases
GPathogenic
LOC111365170, LOC111365174
+2633 more
Copy number loss
See cases
GPathogenic
LOC110120679, LOC110120680
+2633 more
Copy number gain
See cases
GPathogenic
ITGB1BP2, ITIH6
+2632 more
Copy number gain
See cases
GPathogenic
LOC130068277, LOC130068278
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1932 more
Copy number loss
See cases
GPathogenic
LOC126863344, LOC126863345
+2632 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number loss
See cases
GPathogenic
LOC130068156, LOC130068157
+2632 more
Copy number loss
See cases
GPathogenic
LOC125467792, LOC125467793
+2628 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2628 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
VCX3B, VEGFD
+2633 more
Copy number loss
See cases
GPathogenic
CENPVL1, CENPVL2
+2632 more
Copy number gain
See cases
GPathogenic
CT47A6, CT47A7
+2632 more
Copy number gain
See cases
GPathogenic
LOC116309160, LOC116309161
+2631 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number loss
See cases
GPathogenic
CTPS2, CUL4B
+2631 more
Copy number gain
See cases
GPathogenic
LOC130068611, LOC130068612
+2632 more
Copy number loss
See cases
GPathogenic
LOC130068404, LOC130068405
+2632 more
Copy number loss
See cases
GPathogenic
GPR101, GPR119
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ACE2
+1798 more
Copy number gain
See cases
GPathogenic
LOC109396974, LOC109504725
+2632 more
Copy number gain
See cases
GPathogenic
WDR13, WDR44
+2632 more
Copy number loss
See cases
Gconflicting data from submitters
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
LINC00629, LINC00630
+2632 more
Copy number gain
See cases
GPathogenic
TSR2, TXLNG
+2611 more
Copy number loss
See cases
GPathogenic
DMRTC1, DMRTC1B
+2603 more
Copy number gain
See cases
GPathogenic
DLG3, DLG3-AS1
+2593 more
Copy number gain
See cases
GPathogenic
LOC116309156, LOC116309157
+2593 more
Copy number gain
See cases
GPathogenic
LOC130068344, LOC130068345
+2595 more
Copy number gain
See cases
GPathogenic
LOC129391311, LOC129391312
+2585 more
Copy number gain
See cases
GPathogenic
SYTL4, SYTL5
+2046 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2102 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2098 more
Copy number loss
See cases
GPathogenic
LOC130068386, LOC130068387
+824 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1590 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1476 more
Copy number loss
See cases
GPathogenic
LOC126863296, LOC126863297
+1467 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1467 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1466 more
Copy number gain
See cases
GPathogenic
LOC130068371, LOC130068372
+1464 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1254 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1249 more
Copy number loss
See cases
GPathogenic
LOC130068496, LOC130068497
+1244 more
Copy number loss
See cases
GPathogenic
MCTS1, MECP2
+1229 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1230 more
Copy number loss
See cases
GPathogenic
LOC126863325, LOC126863326
+1225 more
Copy number loss
See cases
GPathogenic
LOC130068537, LOC130068538
+1206 more
Copy number loss
See cases
GPathogenic
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
LAMP2, LDOC1
+1197 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1193 more
Copy number loss
See cases
GPathogenic
NXF5, PABPC5
+241 more
Copy number loss
See cases
GPathogenic
LOC126863293, LOC126863294
+478 more
Copy number gain
See cases
GPathogenic
LOC130068661, LOC130068662
+1181 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1180 more
Copy number loss
See cases
GPathogenic
LOC130068480, LOC130068481
+1169 more
Copy number gain
See cases
GPathogenic
LOC101927830, LOC101928335
+1159 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1155 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1152 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1150 more
Copy number loss
See cases
GPathogenic
LOC130068508, LOC130068509
+250 more
Copy number gain
See cases
GPathogenic
LOC126863349, LOC129391309
+1143 more
Copy number gain
See cases
GPathogenic
LOC121627985, LOC121627986
+1141 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+1123 more
Copy number loss
See cases
GPathogenic
ACSL4, AMMECR1
+224 more
Copy number gain
See cases
GPathogenic
ARMCX2, ARMCX3
+108 more
Copy number gain
See cases
GPathogenic
MAGEA8-AS1, MAGEA9
+1075 more
Copy number loss
See cases
GPathogenic
LOC130068847, LOC130068848
+1002 more
Copy number loss
See cases
GPathogenic
LOC130068862, LOC130068863
+1001 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+996 more
Copy number loss
See cases
GPathogenic
ATG4A, COL4A6
+27 more
Copy number gain
See cases
GPathogenic
PRPS1
Deletion
X-linked nonsyndromic hearing loss
+3 more
GLikely benign
PRPS1
Microsatellite
(5 prime UTR variant)
not specified
GLikely benign
PRPS1
Duplication
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
PRPS1
Duplication
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign/Likely benign
PRPS1
(F7L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
(G9R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely pathogenic
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 more
GLikely benign
PRPS1
(S16P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 5
GPathogenic
PRPS1
(S16F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Retinal dystrophy
GLikely pathogenic
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Nephrolithiasis/nephrocalcinosis
+1 more
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
(L25P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely pathogenic
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
PRPS1
(V30E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
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