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Links from Gene

Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRRM3
(P167S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R49H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G418C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(H324L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(H324Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R320Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R287L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(F22L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(K204T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G176D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G137R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R59H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(H495Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(H495Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G493D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(A476V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G382V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD11, ABHD11-AS1
+43 more
Copy number gain
not specified
GPathogenic
HSPB1, SRRM3
Copy number gain
not provided
GUncertain significance
SRRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SRRM3
(R283Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SRRM3
(S80L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R223Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(H332P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R605C)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SRRM3
(R34L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(A379P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G384A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G326A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(T355K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPB1, MDH2
+5 more
Duplication
not provided
GUncertain significance
SRRM3
(G325W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G315R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G478S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R388Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(A41G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R522P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G137V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R421P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(R406K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(H209L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(E124K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(L39P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(S491I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3
(G433S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRRM3, YWHAG
+9 more
Copy number gain
not provided
GUncertain significance
CCL24, CCL26
+10 more
Copy number gain
not provided
GUncertain significance
CCL24, CCL26
+11 more
Copy number loss
not provided
GLikely pathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
HSPB1, MDH2
+5 more
Deletion
not provided
GUncertain significance
APTR, CCDC146
+126 more
Deletion
Distal 7q11.23 microdeletion syndrome
GPathogenic
TBL2, TMEM120A
+50 more
Copy number loss
not provided
GPathogenic
HSPB1, SRRM3
+3 more
Deletion
not provided
GUncertain significance
VPS37D, CLDN4
+44 more
Copy number loss
not provided
GPathogenic
CCL24, CCL26
+9 more
Copy number gain
not provided
GUncertain significance
CCL24, CCL26
+11 more
Copy number gain
not provided
GUncertain significance
HSPB1, SRRM3
+1 more
Copy number gain
not provided
GUncertain significance
CCL24, CCL26
+14 more
Copy number loss
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ABHD11, ABHD11-AS1
+44 more
Copy number loss
Williams syndrome
GPathogenic
POR, YWHAG
+11 more
Copy number loss
not provided
GLikely pathogenic
SRRM3, CCL26
+11 more
Copy number gain
not provided
GUncertain significance
STYXL1, CCL24
+12 more
Copy number gain
not provided
GUncertain significance
CACNA2D1, ERVW-1
+91 more
Deletion
not provided
GUncertain significance
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+44 more
Copy number loss
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
GTF2IRD1, CLIP2
+22 more
Copy number loss
See cases
GLikely pathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
ABHD11, ABHD11-AS1
+285 more
Copy number gain
See cases
GLikely pathogenic
APTR, CACNA2D1
+194 more
Copy number loss
See cases
GPathogenic
CCL24, CCL26
+63 more
Copy number loss
See cases
GUncertain significance
CCL24, CCL26
+65 more
Copy number loss
See cases
GPathogenic
CCL24, CCL26
+65 more
Copy number gain
See cases
GUncertain significance
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998696, LOC129998697
+219 more
Copy number loss
See cases
GPathogenic
APTR, CCDC146
+109 more
Copy number loss
See cases
GPathogenic
APTR, CACNA2D1
+249 more
Copy number loss
See cases
GPathogenic
SPDYE12, SPDYE13
+330 more
Copy number loss
See cases
GPathogenic
CCL24, CCL26
+63 more
Copy number loss
See cases
GUncertain significance
ABHD11, ABHD11-AS1
+317 more
Copy number loss
See cases
GPathogenic
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