U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIBC2
(N100D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP8, ATXN10
+24 more
Copy number loss
not specified
GLikely pathogenic
A4GALT, ADM2
+78 more
Copy number loss
not specified
GPathogenic
ACR, ADM2
+69 more
Copy number loss
not specified
GPathogenic
CELSR1, CERK
+64 more
Copy number loss
not specified
GPathogenic
FAM118A, FBLN1
+404 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
CELSR1, CERK
+55 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+54 more
Copy number gain
not provided
GPathogenic
ACR, ADM2
+71 more
Copy number loss
not provided
GPathogenic
RIBC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RIBC2
(T46P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIBC2
(K59E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIBC2
(V8A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIBC2
(N77D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIBC2
(F328Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIBC2
(N19T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADM2, ALG12
+64 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+69 more
Copy number loss
not provided
GPathogenic
MIOX, MPPED1
+76 more
Copy number gain
not provided
GPathogenic
ARHGAP8, ATXN10
+33 more
Copy number loss
not specified
GPathogenic
A4GALT, ACR
+82 more
Copy number loss
not specified
GPathogenic
MIOX, PPP6R2
+96 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
RIBC2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
BIK, BRD1
+94 more
Deletion
Intellectual disability
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
PRR5, RIBC2
+10 more
Copy number gain
not provided
GUncertain significance
ACR, ADM2
+401 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+411 more
Deletion
Phelan-McDermid syndrome
GPathogenic
PRR5-ARHGAP8, RABL2B
+443 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+471 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ATXN10, BRD1
+45 more
Copy number loss
22q13.3 interstitial deletion
GPathogenic
FAM118A, UPK3A
+4 more
Copy number loss
not provided
GUncertain significance
A4GALT, ACO2
+126 more
Copy number gain
not provided
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
ACR, ADM2
+60 more
Copy number loss
not provided
GPathogenic
ARHGAP8, CPT1B
+92 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
A4GALT, ACR
+83 more
Copy number loss
not provided
GPathogenic
A4GALT, ACR
+79 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+77 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+61 more
Copy number loss
not provided
GPathogenic
A4GALT, ACR
+79 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+57 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+70 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+77 more
Copy number loss
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+91 more
Copy number loss
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
ADM2, A4GALT
+128 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
ARHGAP8, ATXN10
+105 more
Copy number gain
See cases
GUncertain significance
LOC126863184, LOC126863185
+541 more
Copy number gain
See cases
GPathogenic
LOC126863187, LOC126863188
+523 more
Copy number gain
See cases
GPathogenic
ADM2, ALG12
+481 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+451 more
Copy number loss
See cases
GPathogenic
CIMAP1B, CPT1B
+492 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+580 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+396 more
Copy number loss
See cases
GPathogenic
A4GALT, ALG12
+428 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+396 more
Copy number gain
See cases
GPathogenic
ADM2, ALG12
+428 more
Copy number gain
See cases
GBenign
LOC130067605, LOC130067606
+303 more
Copy number gain
See cases
GPathogenic
ACR, ADM2
+434 more
Copy number loss
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067596, LOC130067597
+687 more
Copy number gain
See cases
GPathogenic
ACR, ADM2
+401 more
Copy number loss
See cases
GPathogenic
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067697, LOC130067698
+396 more
Copy number gain
See cases
GPathogenic
LOC126863187, LOC126863188
+495 more
Copy number gain
See cases
GPathogenic
A4GALT, ADM2
+502 more
Copy number gain
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
ACR, ADM2
+396 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+441 more
Copy number loss
See cases
GPathogenic
LOC130067640, LOC130067641
+483 more
Copy number loss
See cases
GPathogenic
A4GALT, ACR
+521 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+371 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination