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Links from Gene

Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEMT
(S57N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PEMT
(W44G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PEMT
(T181M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PEMT
(D176N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PEMT
(P28S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PEMT
(R49Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COPS3, FLCN
+7 more
Copy number gain
not specified
GUncertain significance
ADORA2B, AKAP10
+61 more
Copy number loss
not specified
GPathogenic
ABR, ACADVL
+329 more
Copy number gain
not specified
GPathogenic
AKAP10, ALDH3A1
+49 more
Copy number loss
not provided
GPathogenic
ADORA2B, AKAP10
+61 more
Copy number loss
not provided
GPathogenic
LGALS9C, MIR33B
+30 more
Duplication
not provided
GPathogenic
MPRIP, NT5M
+49 more
Copy number gain
Potocki-Lupski syndrome
GPathogenic
LLGL1, MAPK7
+44 more
Copy number loss
not provided
GPathogenic
PEMT
(V138I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALDH3A2, ALKBH5
+42 more
Duplication
Meckel-Gruber syndrome
+2 more
GUncertain significance
PEMT
(R3L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PEMT
(G123R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PEMT
(R82H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH5, ATPAF2
+38 more
Copy number gain
not provided
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number gain
See cases
GUncertain significance
ADORA2B, ARHGAP44
+228 more
Duplication
not specified
GPathogenic
ADORA2B, AKAP10
+78 more
Complex
PMP22-RAI1 contiguous gene duplication syndrome
GPathogenic
AKAP10, ALDH3A1
+43 more
Copy number loss
Smith-Magenis syndrome
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
Smith-Magenis syndrome
GPathogenic
ATPAF2, CCDC144A
+17 more
Complex
Potocki-Lupski syndrome
GPathogenic
ALKBH5, ATPAF2
+48 more
Copy number loss
not provided
GPathogenic
ALKBH5, ATPAF2
+21 more
Duplication
Birt-Hogg-Dube syndrome
GUncertain significance
AKAP10, ALDH3A1
+48 more
Copy number gain
Potocki-Lupski syndrome
GPathogenic
PEMT
(S222N +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AKAP10, ALDH3A1
+48 more
Copy number gain
Potocki-Lupski syndrome
GPathogenic
AKAP10, ALDH3A1
+43 more
Copy number loss
Smith-Magenis syndrome
GPathogenic
COPS3, FLCN
+6 more
Copy number gain
See cases
GUncertain significance
ADORA2B, ALKBH5
+37 more
Copy number loss
not provided
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
not provided
GPathogenic
SMCR8, SNORD3A
+47 more
Copy number gain
not provided
GPathogenic
ADORA2B, ALKBH5
+42 more
Copy number loss
not provided
GPathogenic
PEMT
(R55H +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ALKBH5, ATPAF2
+23 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number loss
Smith-Magenis syndrome
GPathogenic
PEMT, RAI1
Copy number gain
not provided
GUncertain significance
AKAP10, ALDH3A1
+46 more
Copy number loss
not provided
GPathogenic
AKAP10, ALDH3A1
+46 more
Copy number loss
not provided
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number gain
not provided
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
not provided
GPathogenic
GID4, GRAP
+47 more
Copy number loss
not provided
GPathogenic
AKAP10, ALDH3A1
+252 more
Deletion
Autism
GPathogenic
DRC3, LOC130060351
+248 more
Duplication
Autism
GPathogenic
DRC3, DRG2
+20 more
Copy number loss
Abnormal facial shape
+14 more
GPathogenic
COPS3, DRC3
+47 more
Copy number gain
Delayed gross motor development
+3 more
GPathogenic
TRIM16L, MED9
+47 more
Copy number loss
Pes valgus
+9 more
GPathogenic
MYO15A, NT5M
+47 more
Duplication
Potocki-Lupski syndrome
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
See cases
GPathogenic
B9D1, AKAP10
+51 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+49 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+49 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+49 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+59 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+48 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+59 more
Copy number gain
See cases
GPathogenic
EPN2, EVPLL
+45 more
Copy number loss
See cases
GPathogenic
LOC130060361, LOC130060362
+281 more
Copy number gain
See cases
GPathogenic
FAM106C, FAM83G
+311 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+243 more
Copy number loss
See cases
GPathogenic
LOC125177430, LOC130060384
+7 more
Copy number gain
See cases
GUncertain significance
LOC126862516, LOC126862517
+314 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+252 more
Copy number gain
See cases
GPathogenic
LOC130060442, LOC130060443
+251 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+249 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
MIR6778, MPRIP
+158 more
Copy number loss
See cases
GPathogenic
ADORA2B, ALKBH5
+240 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+244 more
Copy number loss
See cases
GPathogenic
LOC130060377, LOC130060378
+143 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+220 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+251 more
Copy number gain
See cases
GPathogenic
MYO15A, NT5M
+252 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+226 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+245 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
LOC284191, LRRC75A
+216 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
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