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Items: 1 to 100 of 2731

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068573, LOC130068624
+2631 more
Duplication
Schizophrenia
+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
MIR1468, MIR1587
+2598 more
Copy number gain
Klinefelter syndrome
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
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, COL4A5
+2 more
Deletion
X-linked Alport syndrome
GLikely pathogenic
COL4A5, COL4A6
+3 more
Copy number gain
See cases
GUncertain significance
COL4A5, COL4A6
+1 more
Deletion
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Duplication
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL4A5
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
COL4A5
(M1V)
Single nucleotide variant
(missense variant +1 more)
X-linked Alport syndrome
+1 more
GPathogenic
COL4A5
(M1K)
Single nucleotide variant
(missense variant +1 more)
X-linked Alport syndrome
GPathogenic
COL4A5
(L3fs)
Duplication
(frameshift variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A5
(R4S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A5
(G11V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A5
(G11V)
Indel
(missense variant)
not provided
GUncertain significance
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A5
(L14fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(L14V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL4A5
(A16P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A5
(L17fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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