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Links from Gene

Items: 1 to 100 of 107

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WNT7B
(A282T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTSE1, MIRLET7A3
+11 more
Deletion
not provided
GPathogenic
WNT7B
(G303S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(V287M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(M180L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(C15W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(Q80H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(E348K +1 more)
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
CHKB, LOC112695108
+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
WNT7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7B
(Q290R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(A305V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(G136S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(R199Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(R258H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(A148D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(A113V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(R55W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(A286V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WNT7B
(R164Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADM2, ALG12
+64 more
Copy number loss
not provided
GPathogenic
CDPF1, CELSR1
+50 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+50 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+50 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
A4GALT, ACR
+96 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
WNT7B
(G188S)
Single nucleotide variant
(missense variant)
Matthew-Wood syndrome
GPathogenic
WNT7B
(Y75*)
Single nucleotide variant
(nonsense)
Matthew-Wood syndrome
GPathogenic
BIK, BRD1
+94 more
Deletion
Intellectual disability
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
CPT1B, CRELD2
+401 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC121627953, LOC121627954
+411 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ADM2, ALG12
+333 more
Deletion
Phelan-McDermid syndrome
GPathogenic
DENND6B, EFCAB6
+443 more
Deletion
Phelan-McDermid syndrome
GPathogenic
TRABD, TRABD-AS1
+338 more
Deletion
Phelan-McDermid syndrome
GPathogenic
CRELD2, DENND6B
+471 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ATXN10, BRD1
+45 more
Copy number loss
22q13.3 interstitial deletion
GPathogenic
A4GALT, ACO2
+126 more
Copy number gain
not provided
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
WNT7B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WNT7B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
ACR, ADM2
+60 more
Copy number loss
not provided
GPathogenic
A4GALT, ACR
+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
ACR, ADM2
+50 more
Copy number loss
not provided
GPathogenic
ATXN10, CDPF1
+10 more
Copy number gain
See cases
GUncertain significance
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
WNT7B
(R98*)
Single nucleotide variant
(nonsense)
Matthew-Wood syndrome
+1 more
GPathogenic
WNT7B
(R247W)
Single nucleotide variant
(missense variant)
Anophthalmia-microphthalmia syndrome
GLikely pathogenic
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
BRD1, TTC38
+18 more
Copy number loss
See cases
GLikely pathogenic
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
LOC126863174, LOC126863175
+129 more
Copy number loss
See cases
GUncertain significance
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
CDPF1, CELSR1
+99 more
Copy number gain
See cases
GUncertain significance
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
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