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Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006424, LOC130006425
+305 more
Copy number loss
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
ACER3, LOC130006476
(A2P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACER3, LOC130006476
(A4T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACER3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACER3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ACER3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACER3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACER3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACER3
(L18P)
Single nucleotide variant
(missense variant +1 more)
Alkaline ceramidase 3 deficiency
GUncertain significance
ACER3
(Y25H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACER3
(Y25C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACER3
(E33G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACER3
(L41R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ACER3
(M48I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
ACER3
(G50S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACER3
(V52I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
ACER3
(Q53R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACER3
(E60Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACER3
(K61R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACER3
(R62W)
Indel
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
ACER3
(R62Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+1 more
GUncertain significance
ACER3
(I64V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(intron variant)
not provided
GBenign
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
(V73L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACER3
(G39E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACER3
(F43L +1 more)
Single nucleotide variant
(missense variant +1 more)
Alkaline ceramidase 3 deficiency
GUncertain significance
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
(I2L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(Y3H +2 more)
Single nucleotide variant
(missense variant)
Alkaline ceramidase 3 deficiency
GUncertain significance
ACER3
Single nucleotide variant
(intron variant)
not provided
GBenign
ACER3
Single nucleotide variant
(intron variant)
not provided
GBenign
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACER3
(V89I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACER3
(I131L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(V37L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACER3
(Q109* +2 more)
Single nucleotide variant
(nonsense)
ACER3-related disorder
GPathogenic
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(intron variant)
not provided
GBenign
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
(Y112H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACER3
(L158F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(R122* +2 more)
Single nucleotide variant
(nonsense)
Alkaline ceramidase 3 deficiency
GLikely pathogenic
ACER3
(I126V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(T70A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACER3
Duplication
(intron variant)
not provided
GBenign
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
(V167I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(P132S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(T140I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACER3
(I144V +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ACER3
(W152* +2 more)
Single nucleotide variant
(nonsense)
Alkaline ceramidase 3 deficiency
GPathogenic
ACER3
(D192G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(C101Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
(R203* +2 more)
Single nucleotide variant
(nonsense)
Alkaline ceramidase 3 deficiency
GPathogenic
ACER3
(V206I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(G116S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
(G116C +2 more)
Single nucleotide variant
(missense variant)
Alkaline ceramidase 3 deficiency
GPathogenic
ACER3
(S140R +2 more)
Single nucleotide variant
(missense variant)
Alkaline ceramidase 3 deficiency
GPathogenic
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(intron variant)
not provided
GBenign
ACER3
(V154M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(intron variant)
not provided
GBenign
ACER3
Deletion
(splice acceptor variant)
not provided
GUncertain significance
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACER3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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