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Links from Gene

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTBD2, LOC130063010
(P62Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(K308T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2, LOC130063009
(R131C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(V403M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(T438M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(R278H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(D246E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(D246G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(T193K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2, LOC130063010
(G84A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
BTBD2
(V459M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(V451I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(R450C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(D443N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(P363R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(R362Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LINGO3, MIR1909
+21 more
Copy number gain
not specified
GUncertain significance
ABHD17A, ADAT3
+13 more
Copy number gain
not specified
GUncertain significance
BTBD2
(R9C)
Single nucleotide variant
(missense variant)
BTBD2-related disorder
GLikely benign
BTBD2
Microsatellite
BTBD2-related disorder
GLikely benign
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
BTBD2, LOC130063010
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BTBD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BTBD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BTBD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BTBD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BTBD2, LOC130063010
(P101S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2, LOC130063010
(E91V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2, LOC130063010
(A85T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(A54S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(V115M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(P474S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(R288H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2, LOC130063010
(E79A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2, LOC130063010
(R90C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD17A, ADAMTSL5
+80 more
Duplication
not provided
GUncertain significance
C19orf25, CSNK1G2
+35 more
Duplication
Progressive myoclonic epilepsy type 9
+1 more
GUncertain significance
TLE5, TLE6
+151 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+61 more
Duplication
Neutropenia, severe congenital, 1, autosomal dominant
+1 more
GUncertain significance
ABCA7, ABHD17A
+138 more
Duplication
not provided
GUncertain significance
BTBD2
(T58P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(R281W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(D273N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(A201V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(S334L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(A37V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2, LOC130063010
(E91D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(V141A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(A446V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(V463I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(T22S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2, LOC130063010
(A81V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD2
(M224V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCA7, ABHD17A
+77 more
Copy number gain
See cases
GPathogenic
AMH, AP3D1
+14 more
Copy number gain
not provided
GUncertain significance
ABCA7, ABHD17A
+138 more
Copy number gain
See cases
GPathogenic
MKNK2, MOB3A
+43 more
Copy number gain
not provided
GLikely pathogenic
ADAMTSL5, PLEKHJ1
+106 more
Copy number gain
not provided
GPathogenic
ABHD17A, ADAT3
+10 more
Copy number gain
not provided
GUncertain significance
ABHD17A, ADAT3
+8 more
Copy number loss
not provided
GUncertain significance
ABCA7, ABHD17A
+147 more
Copy number gain
not provided
GPathogenic
AP3D1, SPPL2B
+64 more
Duplication
Neurodevelopmental disorder
GUncertain significance
ABCA7, ABHD17A
+102 more
Copy number gain
not provided
GPathogenic
NDUFS7, OAZ1
+100 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
MKNK2, BTBD2
+1 more
Copy number loss
See cases
GBenign
GADD45B, BTBD2
+19 more
Copy number gain
See cases
GUncertain significance
ABCA7, ABHD17A
+87 more
Copy number gain
See cases
GPathogenic
BTBD2, MKNK2
+1 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
ABHD17A, ADAMTSL5
+219 more
Copy number gain
See cases
GUncertain significance
LOC130062818, LOC130062819
+332 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
ABHD17A, ADAT3
+387 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAT3
+108 more
Copy number loss
See cases
GPathogenic
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
ABHD17A, ADAT3
+362 more
Copy number gain
See cases
GPathogenic
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
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