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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL, AHCYL1
+333 more
Copy number loss
See cases
GPathogenic
ELAPOR1, EPS8L3
+276 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+148 more
Copy number loss
See cases
GPathogenic
AMIGO1, AMPD2
+72 more
Copy number gain
See cases
GUncertain significance
GSTM1, LOC129931113
(Y7C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSTM1
(H15Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GSTM1
(R82C)
Single nucleotide variant
(missense variant)
GSTM1-related disorder
GLikely benign
GSTM1
(R96L)
Single nucleotide variant
(missense variant)
not provided
GBenign
GSTM1
(M105T)
Single nucleotide variant
(missense variant)
not provided
GBenign
GSTM1
(K126T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSTM1
(R145W)
Single nucleotide variant
(missense variant)
not provided
GBenign
GSTM1
(L159V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GSTM1
(K173R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADORA3, AHCYL1
+48 more
Copy number loss
not specified
GUncertain significance
ADORA3, AHCYL1
+77 more
Copy number loss
not provided
GPathogenic
ADORA3, AHCYL1
+54 more
Copy number loss
not provided
GPathogenic
AHCYL1, AKNAD1
+52 more
Deletion
Hereditary spastic paraplegia 63
+1 more
GPathogenic
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
GSTM1, GSTM2
+3 more
Copy number loss
not provided
GUncertain significance
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
AHCYL1, AKNAD1
+47 more
Deletion
not provided
Gnot provided
KCNC4, LAMTOR5
+50 more
Deletion
1p13.3 deletion syndrome
GLikely pathogenic
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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