U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 396

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
ABCB7, ACE2
+1398 more
Copy number gain
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
GK, GK-AS1
+1475 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1163 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1628 more
Copy number loss
See cases
GPathogenic
LOC130068016, LOC130068017
+1163 more
Copy number loss
See cases
GPathogenic
LOC130068277, LOC130068278
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1932 more
Copy number loss
See cases
GPathogenic
GAGE12H, GAGE12I
+1163 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1163 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
LOC121627957, LOC121627958
+1154 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
LOC130068209, LOC130068210
+1130 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1798 more
Copy number gain
See cases
GPathogenic
LOC109396974, LOC109504725
+2632 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1216 more
Copy number loss
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
LOC107652445, LOC107985657
+1163 more
Copy number loss
See cases
GPathogenic
MIR1321, MIR1468
+1493 more
Copy number loss
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
ACE2, ACE2-DT
+1130 more
Copy number loss
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
AKAP4, ALAS2
+343 more
Copy number gain
See cases
GPathogenic
LOC130068430, LOC130068431
+640 more
Copy number loss
See cases
GPathogenic
LOC130068386, LOC130068387
+824 more
Copy number loss
See cases
GPathogenic
ALAS2, APEX2
+162 more
Copy number loss
See cases
GPathogenic
ALAS2, APEX2
+162 more
Copy number gain
See cases
GPathogenic
ALAS2, APEX2
+146 more
Copy number gain
See cases
GPathogenic
LOC130068353, LOC130068354
+169 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1590 more
Copy number loss
See cases
GPathogenic
ALAS2, APEX2
+93 more
Copy number gain
See cases
GPathogenic
ALAS2, APEX2
+92 more
Copy number gain
See cases
GPathogenic
EDA2R, EFNB1
+410 more
Copy number loss
See cases
GPathogenic
ALAS2, APEX2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
ALAS2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ALAS2
(Y586F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALAS2
(Y545fs +2 more)
Indel
(frameshift variant)
not provided
GUncertain significance
ALAS2
(Q568R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALAS2
(S573F +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ALAS2
(E532fs +2 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALAS2
(S568G +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(M530fs +2 more)
Deletion
(frameshift variant)
X-linked erythropoietic protoporphyria
GPathogenic
ALAS2
(M567V +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ALAS2
(L566F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALAS2
(E528D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALAS2
(E565Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAS2
(V562A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAS2
(R523H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAS2
(R523C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAS2
(R559P +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ALAS2
(R559H +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
ALAS2
(S538fs +2 more)
Deletion
(frameshift variant)
X-linked erythropoietic protoporphyria
GPathogenic
ALAS2
(C518* +2 more)
Duplication
(nonsense)
not provided
GLikely pathogenic
ALAS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ALAS2
(Q548* +2 more)
Single nucleotide variant
(nonsense)
X-linked erythropoietic protoporphyria
GPathogenic
ALAS2
Single nucleotide variant
(synonymous variant)
X-linked sideroblastic anemia 1
GUncertain significance
ALAS2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ALAS2
(A505V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALAS2
(T528I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAS2
(T541S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAS2
Deletion
(intron variant)
not provided
GLikely benign
ALAS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALAS2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALAS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALAS2
(M491fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
ALAS2
(H487R +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination