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Links from Gene

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB42
(E75K)
Single nucleotide variant
(missense variant +1 more)
Autism
GUncertain significance
RAB42
(A149V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB42
(R205S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB42
(G191V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB42
(Q107H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RAB42
(E42D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
RAB42
(I85T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB42
(R86Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RAB42
(G35S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB42
(S93Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB42
(G61R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB42
(T23P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB42
(E157Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR3, PTPRU
+66 more
Copy number gain
not specified
GUncertain significance
ATP5IF1, DNAJC8
+14 more
Copy number loss
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
RAB42, TAF12
+1 more
Copy number gain
See cases
GLikely benign
PHACTR4, RAB42
+5 more
Copy number gain
See cases
GUncertain significance
RAB42, TAF12
+1 more
Copy number gain
See cases
GLikely benign
RCC1, EYA3
+12 more
Copy number gain
See cases
GUncertain significance
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
LOC112577575, LOC112577576
+24 more
Copy number loss
See cases
GUncertain significance
ATP5IF1, DNAJC8
+51 more
Copy number gain
See cases
GUncertain significance
LOC129929998, LOC129929999
+293 more
Copy number loss
See cases
GPathogenic
ADGRB2, AHDC1
+348 more
Copy number gain
See cases
GPathogenic
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