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 444

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
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
ABCB7, ACE2
+1628 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
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
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
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
LOC130068430, LOC130068431
+640 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
EDA2R, EFNB1
+410 more
Copy number loss
See cases
GPathogenic
ABCB7, AMER1
+269 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
LOC126863270, LOC126863271
+263 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
KIF4A, LOC130068402
+206 more
Duplication
Xq13q21 duplication
GPathogenic
TEX11, TSIX
+206 more
Copy number gain
See cases
GPathogenic
MIR421, MIR545
+175 more
Copy number gain
See cases
GPathogenic
ABCB7, ARR3
+161 more
Copy number gain
See cases
GPathogenic
CITED1, ERCC6L
+19 more
Copy number gain
See cases
GLikely benign
HDAC8
(V285M +4 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
+1 more
GUncertain significance
HDAC8
(L347M +4 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
Deletion
(splice acceptor variant)
Cornelia de Lange syndrome 1
GPathogenic
HDAC8
Single nucleotide variant
(splice acceptor variant)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Deletion
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
not provided
GBenign
HDAC8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HDAC8
(T302M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HDAC8
Deletion
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GBenign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GBenign
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GBenign
HDAC8
(E280K +4 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
(I343V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(I271T +2 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GUncertain significance
HDAC8
(R270Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GBenign
HDAC8
(R361* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cornelia de Lange syndrome 5
GPathogenic
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(R265C +2 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(R262Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
(S351T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GLikely benign
HDAC8
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
HDAC8
(T258M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
DMRTC1, DMRTC1B
+11 more
Copy number gain
See cases
GUncertain significance
HDAC8
(L346P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
HDAC8
(Y340C +1 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
+1 more
GUncertain significance
HDAC8
(Y340S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GLikely pathogenic
HDAC8
(T247fs +2 more)
Duplication
(frameshift variant +1 more)
Cornelia de Lange syndrome 5
GLikely pathogenic
HDAC8
(T247fs +2 more)
Duplication
(frameshift variant +1 more)
Cornelia de Lange syndrome 5
GPathogenic
HDAC8
Single nucleotide variant
(splice acceptor variant)
Cornelia de Lange syndrome 5
GLikely pathogenic
HDAC8
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 5
GBenign
Format
Items per page
Sort by
Choose Destination