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Links from Gene

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TM4SF19, TM4SF19-AS1
+1 more
(A179T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GLikely benign
TM4SF19, TM4SF19-AS1
+1 more
(S223L)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GLikely benign
TM4SF19, TM4SF19-AS1
+1 more
(N238S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TM4SF19, TM4SF19-AS1
+1 more
(T196I)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
TM4SF19, TM4SF19-AS1
+1 more
(L186F +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GLikely benign
TM4SF19, TM4SF19-AS1
+1 more
(P177L)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
TM4SF19, TM4SF19-AS1
+1 more
(L127V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TM4SF19, TM4SF19-AS1
+1 more
Single nucleotide variant
not provided
GLikely benign
TM4SF19, TM4SF19-AS1
+1 more
Single nucleotide variant
not provided
GLikely benign
BDH1, CEP19
+113 more
Copy number loss
See cases
GPathogenic
TM4SF19, TM4SF19-AS1
+1 more
(Q136R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TM4SF19, TM4SF19-AS1
+1 more
(N212D)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
LOC129938264, LOC129938265
+114 more
Deletion
Chromosome 3q29 microdeletion syndrome
GPathogenic
CEP19, DLG1
+85 more
Deletion
Schizophrenia
GPathogenic
LOC123464504, LOC123464505
+108 more
Deletion
Schizophrenia
GPathogenic
LOC123464504, LOC129938307
+114 more
Duplication
Autism
GLikely pathogenic
BDH1, CEP19
+107 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
TM4SF19-DYNLT2B, TMEM44
+313 more
Copy number gain
See cases
GPathogenic
FBXO45, LINC00885
+110 more
Copy number gain
See cases
GUncertain significance
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+110 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+108 more
Copy number gain
See cases
Gconflicting data from submitters
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+111 more
Copy number loss
See cases
GPathogenic
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
ACAP2, APOD
+273 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+337 more
Copy number gain
See cases
GPathogenic
NRROS, PAK2
+109 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+169 more
Copy number gain
See cases
GPathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+239 more
Copy number loss
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+111 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+107 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+111 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+113 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+109 more
Copy number gain
See cases
GPathogenic
LOC129938303, LOC129938304
+133 more
Copy number gain
See cases
GPathogenic
DYNLT2B, LINC00885
+41 more
Copy number gain
See cases
GUncertain significance
BDH1, CEP19
+155 more
Copy number gain
See cases
GUncertain significance
LOC129938284, LOC129938285
+166 more
Copy number gain
See cases
GUncertain significance
BDH1, CEP19
+107 more
Copy number loss
See cases
GPathogenic
BDH1, CEP19
+111 more
Copy number loss
See cases
GPathogenic
RUBCN, SENP5
+264 more
Copy number gain
See cases
GPathogenic
LOC126806930, LOC126806931
+375 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+411 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
MIR944, MUC20
+557 more
Copy number loss
See cases
GPathogenic
CEP19, DLG1
+89 more
Copy number loss
See cases
GPathogenic
CEP19, DLG1
+102 more
Copy number gain
See cases
GPathogenic
LOC129938306, LOC129938307
+107 more
Copy number loss
See cases
GPathogenic
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