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Items: 1 to 100 of 2632

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+275 more
Copy number gain
See cases
GPathogenic
BAZ2B, BAZ2B-AS1
+197 more
Copy number loss
See cases
GPathogenic
COBLL1, CSRNP3
+38 more
Copy number loss
See cases
GPathogenic
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
LOC129935070, LOC129935071
+162 more
Copy number loss
See cases
GPathogenic
ABCB11, ATF2
+269 more
Copy number loss
See cases
GPathogenic
B3GALT1, CSRNP3
+25 more
Copy number gain
See cases
GPathogenic
LOC129935043, LOC129935044
+17 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
LOC129935046, LOC129935047
+17 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
SCN9A, TTC21B
+17 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
CSRNP3, GALNT3
+16 more
Copy number loss
See cases
GPathogenic
B3GALT1, CSRNP3
+22 more
Copy number loss
West syndrome
GPathogenic
LOC100506124, LOC102724058
+14 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
LOC102724058, LOC129935046
+6 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
LOC102724058, SCN1A
+3 more
Copy number loss
See cases
GPathogenic
SCN1A, SCN1A-AS1
+1 more
Duplication
Neuropathy, hereditary sensory and autonomic, type 2A
+2 more
GUncertain significance
SCN9A, SCN1A-AS1
Deletion
Generalized epilepsy with febrile seizures plus, type 7
+1 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GUncertain significance
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Deletion
(3 prime UTR variant)
Inherited Erythromelalgia
+6 more
GUncertain significance
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Small fiber neuropathy
+3 more
GBenign
SCN1A-AS1, SCN9A
Deletion
(3 prime UTR variant)
Inherited Erythromelalgia
+6 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+3 more
GBenign/Likely benign
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign/Likely benign
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Duplication
(3 prime UTR variant)
Severe myoclonic epilepsy in infancy
+6 more
GLikely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+4 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Deletion
(3 prime UTR variant)
Inherited Erythromelalgia
+6 more
GLikely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Deletion
(3 prime UTR variant)
Congenital Indifference to Pain
+3 more
GBenign
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+3 more
GBenign
SCN1A-AS1, SCN9A
Duplication
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GLikely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GUncertain significance
SCN9A, SCN1A-AS1
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Insertion
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Duplication
(3 prime UTR variant)
Congenital Indifference to Pain
+6 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Small fiber neuropathy
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Duplication
(3 prime UTR variant)
Congenital Indifference to Pain
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Deletion
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Deletion
(3 prime UTR variant)
Inherited Erythromelalgia
+6 more
GUncertain significance
SCN1A-AS1, SCN9A
Duplication
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Duplication
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+2 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
+3 more
GBenign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Primary erythromelalgia
+3 more
GUncertain significance
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Paroxysmal extreme pain disorder
+3 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
Single nucleotide variant
(3 prime UTR variant)
Inherited Erythromelalgia
+3 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
Duplication
(3 prime UTR variant)
Inherited Erythromelalgia
+6 more
GUncertain significance
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