C4748688[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342255	NM_001042646.3(TRAK1):c.364-26T>C	TRAK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 68 +1 more	GBenign
Select item 1342256	NM_001042646.3(TRAK1):c.900+43G>A	TRAK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 68 +1 more	GBenign
Select item 1342257	NM_001042646.3(TRAK1):c.1095A>G (p.Ser365=)	LOC129936554, TRAK1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 68 +1 more	GBenign
Select item 1342258	NM_001042646.3(TRAK1):c.1744+77G>A	TRAK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1342259	NM_001042646.3(TRAK1):c.1749C>T (p.Ser583=)	TRAK1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 68 +1 more	GBenign
Select item 1342260	NM_001042646.3(TRAK1):c.1815C>T (p.Pro605=)	TRAK1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 68 +1 more	GBenign
Select item 1342261	NM_001042646.3(TRAK1):c.2067-41A>G	TRAK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 68 +1 more	GBenign
Select item 1342262	NM_001042646.3(TRAK1):c.2067-12T>C	TRAK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 68 +1 more	GBenign
Select item 1342263	NM_001042646.3(TRAK1):c.*42CTC[1]	TRAK1	Microsatellite (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 68	GBenign