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Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
ACER1, ACSBG2
+113 more
Copy number gain
See cases
GUncertain significance
ADGRE1, LOC129391044
+12 more
Copy number gain
See cases
GBenign
ADGRE1, LOC130063344
(R2L)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADGRE1
(P24L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(Y55C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(A57V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(G92R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ADGRE1
(P125L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(F128L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(T131I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(S139G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ADGRE1
(V141I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(N98T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(S156N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ADGRE1
(S158R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(C118S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(V173M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(D126G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(S206I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(I231N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(G114E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(C266W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(C233F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(G247S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(P250T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(K180E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADGRE1
(I327L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(Q335K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(G287E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(I176R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(K315N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(T368M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(V370L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(V229I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(L196Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(T212K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(S258Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(E233A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(R252Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADGRE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ADGRE1, LOC129391044
+11 more
Copy number gain
See cases
GLikely benign
ADGRE1, LOC129391044
+11 more
Copy number gain
See cases
GBenign
ADGRE1, LOC129391044
+11 more
Copy number gain
See cases
GBenign
ADGRE1
(K297T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(L453V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(L312F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(I290V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(F306L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADGRE1
(I366N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(V516L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(G376A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(Y393C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
Duplication
(intron variant)
ADGRE1-related disorder
GLikely benign
ADGRE1
(P364A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(C426Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(S528N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(N582H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(A415V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(G417R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(D422A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(I470V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(A620V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(A570T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(L464F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(G514S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1
(H657Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRE1, LOC130063345
(A669V +4 more)
Single nucleotide variant
(missense variant)
ADGRE1-related disorder
GLikely benign
ADGRE1
(M673V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(G749V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(G608A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(G579E +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(I585V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(E727V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ADGRE1
Single nucleotide variant
(intron variant)
not provided
GBenign
ADGRE1
(A697T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(R675Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(I697T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(I733M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE1
(P739T +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADGRE1
(T885M +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ACER1, ACSBG2
+65 more
Duplication
not provided
GUncertain significance
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
ARHGEF18, C3
+51 more
Deletion
Mucolipidosis type IV
GPathogenic
ACER1, ACSBG2
+165 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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Format
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