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Links from Gene

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064285, TBCB
(D81N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(S123C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6, APLP1
+63 more
Copy number loss
not provided
GPathogenic
TBCB
(T179M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(R145C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(P138T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(P123A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(S17N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(I109T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ALKBH6, CAPNS1
+11 more
Copy number gain
not specified
GUncertain significance
ALKBH6, APLP1
+18 more
Copy number gain
not provided
GUncertain significance
ALKBH6, APLP1
+72 more
Deletion
not provided
GPathogenic
TBCB
(N209K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(R43H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(V6M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(G131R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(R212C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(G189R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(V110L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6, APLP1
+83 more
Duplication
Hereditary spastic paraplegia 75
GUncertain significance
TBCB
(P9L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(V121F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130064285, TBCB
(S14N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(Y146N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(K211R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(R103P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(H39R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBCB
(P149S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6, APLP1
+54 more
Deletion
Brugada syndrome 5
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
CAPNS1, COX7A1
+4 more
Copy number gain
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
ALKBH6, APLP1
+79 more
Copy number loss
Generalized epilepsy with febrile seizures plus, type 1
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ALKBH6, APLP1
+39 more
Copy number loss
See cases
GUncertain significance
TBCB, CAPNS1
+1 more
Copy number gain
See cases
GUncertain significance
SIPA1L3, ALKBH6
+41 more
Copy number gain
See cases
GUncertain significance
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
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