U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 138

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
ACE2, ACOT9
+314 more
Copy number loss
not specified
GPathogenic
ACE2, ACOT9
+305 more
Copy number loss
not specified
GPathogenic
CCDC22, CFP
+155 more
Copy number loss
not provided
GPathogenic
HDAC6, RGN
+275 more
Copy number loss
not provided
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
FAM156A, FAM156B
+4 more
Copy number gain
not provided
GUncertain significance
ABCB7, ABCD1
+790 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
ACE2, ACOT9
+315 more
Copy number loss
Turner syndrome
GPathogenic
ADGRG2, ACE2
+309 more
Complex
Turner syndrome
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
Turner syndrome
GPathogenic
AKAP14, CT47A11
+819 more
Copy number gain
Hypotonia
+2 more
GPathogenic
ALAS2, APEX2
+33 more
Copy number gain
not specified
GLikely pathogenic
RADX, RAI2
+818 more
Copy number loss
not provided
GPathogenic
GPM6B, KLHL15
+818 more
Copy number gain
not provided
GPathogenic
ALAS2, APEX2
+32 more
Copy number gain
not provided
GPathogenic
KLHL34, KLHL4
+818 more
Copy number loss
not provided
GPathogenic
FAM156B, FOXP3
+109 more
Copy number gain
not provided
GPathogenic
ACE2, ACOT9
+309 more
Copy number loss
not provided
GPathogenic
ACE2, ACOT9
+304 more
Copy number loss
See cases
GPathogenic
XAGE5, SSX2
+4 more
Copy number gain
not provided
GUncertain significance
GPR173, FAM156B
+10 more
Copy number gain
Intellectual disability
GPathogenic
ACE2, ACOT9
+305 more
Copy number loss
not provided
GPathogenic
ABCB7, AKAP4
+268 more
Inversion
Elevated circulating creatine kinase concentration
GLikely pathogenic
ARHGAP36, ARHGAP4
+818 more
Copy number loss
not provided
GPathogenic
FAM156A, FAM156B
+14 more
Copy number loss
not provided
GUncertain significance
RBBP7, RBM10
+316 more
Copy number loss
not provided
GPathogenic
BEX1, BEX2
+818 more
Copy number gain
not provided
GPathogenic
ABCB7, AKAP4
+281 more
Copy number loss
not provided
GPathogenic
AKAP14, CCDC22
+733 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
RPS6KA6, UPRT
+413 more
Copy number gain
not provided
GPathogenic
AMER1, AMMECR1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic
ARSF, CFAP47
+2632 more
Duplication
Autism
+1 more
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
EIF1AX, EIF2S3
+539 more
Copy number loss
See cases
GPathogenic
PNMA5, PNMA6A
+695 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+314 more
Copy number loss
See cases
GPathogenic
SYN1, SYP
+294 more
Copy number loss
See cases
GPathogenic
ABCB7, AKAP4
+300 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+731 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+390 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+300 more
Copy number loss
See cases
GPathogenic
ARSF, XAGE2
+312 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+312 more
Copy number loss
See cases
GPathogenic
WDR45, WNK3
+313 more
Copy number loss
See cases
GPathogenic
BEX4, BEX5
+566 more
Copy number gain
not provided
GUncertain significance
TMLHE, TMSB15A
+819 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
See cases
GPathogenic
BEX1, BEX2
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ADGRG2
+818 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number gain
See cases
GPathogenic
TMEM255A, TMEM31
+819 more
Copy number gain
See cases
GPathogenic
ACE2, ACOT9
+316 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+783 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
PNMA3, PLP1
+818 more
Copy number gain
See cases
GPathogenic
ACE2, ACOT9
+316 more
Copy number loss
See cases
GPathogenic
MAGEB4, MAGEB5
+818 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
See cases
GPathogenic
RPS6KA3, RPS6KA6
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
RRAGB, RS1
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, AKAP4
+250 more
Copy number gain
See cases
GPathogenic
ARL13A, ARMCX1
+818 more
Copy number gain
See cases
GPathogenic
HDAC6, HTATSF1
+818 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number loss
See cases
GPathogenic
VAMP7, VBP1
+2632 more
Copy number loss
See cases
GPathogenic
LOC130067918, LOC130067919
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068528, LOC130068529
+2634 more
Copy number gain
See cases
GPathogenic
ARMCX5, ARMCX5-GPRASP2
+2634 more
Copy number loss
See cases
GPathogenic
KDM5C, LOC113875033
+48 more
Copy number loss
See cases
GPathogenic
FUNDC1, FUNDC2
+2633 more
Copy number loss
See cases
GPathogenic
LOC126863244, LOC126863245
+2633 more
Copy number gain
See cases
GPathogenic
LOC121627970, LOC121627971
+1042 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1131 more
Copy number loss
See cases
GPathogenic
LOC130068353, LOC130068354
+169 more
Copy number gain
See cases
GPathogenic
LOC126863325, LOC126863326
+2633 more
Copy number gain
See cases
GPathogenic
LOC130067990, LOC130067991
+1217 more
Copy number loss
See cases
GPathogenic
MAGED2, MAGED4
+1799 more
Copy number gain
See cases
GPathogenic
ALAS2, APEX2
+162 more
Copy number loss
See cases
GPathogenic
AKAP4, BMP15
+157 more
Copy number gain
See cases
GPathogenic
LOC130068457, LOC130068458
+824 more
Copy number loss
See cases
GPathogenic
AKAP4, ARAF
+328 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
CNKSR2, COL4A5
+2604 more
Copy number gain
See cases
GPathogenic
LOC130068098, LOC130068099
+2633 more
Copy number loss
See cases
Gconflicting data from submitters
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
VCX3A, VCX3B
+1070 more
Copy number loss
See cases
GPathogenic
LOC126863315, LOC126863316
+2633 more
Copy number gain
See cases
GPathogenic
LOC130067920, LOC130067921
+1476 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1164 more
Copy number loss
See cases
GPathogenic
LOC130068055, LOC130068056
+2612 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+2047 more
Copy number loss
See cases
GPathogenic
CENPVL1, FAM156A
+31 more
Copy number loss
See cases
GUncertain significance
Format
Items per page
Sort by
Choose Destination