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Items: 1 to 100 of 649

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
HMGN5, HNRNPH2
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068194, LOC130068195
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863191, LOC126863192
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068432, LOC130068433
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068031, LOC130068032
+2633 more
Copy number gain
See cases
GPathogenic
LOC110120594, LOC110120595
+2633 more
Copy number loss
See cases
GPathogenic
LOC130067964, LOC130067965
+2633 more
Copy number gain
See cases
GPathogenic
CT45A7, CT45A8
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
FANCB, FGD1
+1932 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+2632 more
Copy number gain
See cases
GPathogenic
TIMM8A, TIMP1
+2631 more
Copy number loss
See cases
GPathogenic
LOC119407398, LOC119407399
+2632 more
Copy number loss
See cases
GPathogenic
FAM223B, FAM226A
+2628 more
Copy number loss
See cases
GPathogenic
LOC126863207, LOC126863208
+2628 more
Copy number gain
See cases
GPathogenic
LOC130068458, LOC130068459
+2633 more
Copy number gain
See cases
GPathogenic
LOC113875011, LOC113875012
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
LOC130068362, LOC130068363
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number gain
See cases
GPathogenic
LOC130068054, LOC130068055
+2631 more
Copy number loss
See cases
GPathogenic
LOC126863302, LOC126863303
+2631 more
Copy number gain
See cases
GPathogenic
LOC119407406, LOC119407407
+2632 more
Copy number loss
See cases
GPathogenic
ACOT9, ABCB7
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863301, LOC126863302
+2632 more
Copy number gain
See cases
GPathogenic
LOC130067921, LOC130067922
+1798 more
Copy number gain
See cases
GPathogenic
LOC126863205, LOC126863206
+2632 more
Copy number gain
See cases
GPathogenic
LOC107985687, LOC107988021
+2632 more
Copy number loss
See cases
Gconflicting data from submitters
LOC130067947, LOC130067948
+2632 more
Copy number gain
See cases
GPathogenic
CT45A3, CT45A5
+2632 more
Copy number gain
See cases
GPathogenic
CDKL5, CDR1
+2611 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2603 more
Copy number gain
See cases
GPathogenic
LOC126863296, LOC126863297
+2593 more
Copy number gain
See cases
GPathogenic
LOC130068368, LOC130068369
+2593 more
Copy number gain
See cases
GPathogenic
LOC130067891, LOC130067892
+2595 more
Copy number gain
See cases
GPathogenic
LOC130068100, LOC130068101
+2585 more
Copy number gain
See cases
GPathogenic
ABCB7, ACE2
+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
ABCB7, ACSL4
+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
LOC113875008, LOC113875009
+1467 more
Copy number gain
See cases
GPathogenic
LOC130068588, LOC130068589
+1467 more
Copy number gain
See cases
GPathogenic
LOC116309158, LOC116309159
+1466 more
Copy number gain
See cases
GPathogenic
GPRASP2, GPRASP3
+1464 more
Copy number loss
See cases
GPathogenic
LOC130068848, LOC130068849
+1254 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1249 more
Copy number loss
See cases
GPathogenic
DNAAF6, DNASE1L1
+1244 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1229 more
Copy number loss
See cases
GPathogenic
LOC130068886, LOC130068887
+1230 more
Copy number loss
See cases
GPathogenic
TCP11X2, TENM1
+1225 more
Copy number loss
See cases
GPathogenic
FAM3A, FAM50A
+1206 more
Copy number loss
See cases
GPathogenic
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
LOC113875015, LOC113875016
+1197 more
Copy number loss
See cases
GPathogenic
CT45A10, CT45A2
+1193 more
Copy number loss
See cases
GPathogenic
APOOL, ARL13A
+241 more
Copy number loss
See cases
GPathogenic
LOC126863293, LOC126863294
+478 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+1181 more
Copy number loss
See cases
GPathogenic
LOC130068516, LOC130068517
+1180 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1169 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+1159 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1155 more
Copy number loss
See cases
GPathogenic
LOC130068676, LOC130068677
+1152 more
Copy number loss
See cases
GPathogenic
GABRQ, GDI1
+1150 more
Copy number loss
See cases
GPathogenic
TMEM164, TMEM31
+250 more
Copy number gain
See cases
GPathogenic
PLP1, PLS3
+1143 more
Copy number gain
See cases
GPathogenic
LOC130068811, LOC130068812
+1141 more
Copy number gain
See cases
GPathogenic
LOC130068857, LOC130068858
+1123 more
Copy number loss
See cases
GPathogenic
ACSL4, AMMECR1
+224 more
Copy number gain
See cases
GPathogenic
LOC130068686, LOC130068687
+1075 more
Copy number loss
See cases
GPathogenic
LOC130068697, LOC130068698
+1002 more
Copy number loss
See cases
GPathogenic
LOC130068869, LOC130068870
+1001 more
Copy number loss
See cases
GPathogenic
PLXNB3-AS1, PNCK
+996 more
Copy number loss
See cases
GPathogenic
ATG4A, COL4A6
+27 more
Copy number gain
See cases
GPathogenic
ATG4A, COL4A5
+2 more
Deletion
X-linked Alport syndrome
GLikely pathogenic
COL4A6
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
COL4A6
Single nucleotide variant
(stop lost)
not provided
GLikely pathogenic
COL4A6
(M1687V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A6
(R1625C +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL4A6
(S1682N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A6
(S1593N +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A6
(E1651K +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A6
(I1633M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A6
(R1628fs +4 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
COL4A6
(E1611Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL4A6
Microsatellite
(intron variant)
not provided
GLikely benign
COL4A6
Single nucleotide variant
(intron variant)
not provided
GBenign
COL4A6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A6
Single nucleotide variant
(intron variant)
Hearing loss, X-linked 6
+2 more
GBenign
COL4A6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL4A6
(M1547L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A6
(P1533S +4 more)
Single nucleotide variant
(missense variant)
Hearing loss, X-linked 6
GUncertain significance
COL4A6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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