Related gene-specific medical variations for Gene (Select 22906) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068224	NM_001042646.3(TRAK1):c.2762_2763insGAA (p.Pro921_Thr922insAsn)	TRAK1	Insertion (inframe_insertion +3 more)	Developmental and epileptic encephalopathy, 68	GUncertain significance
Select item 3023076	NM_001042646.3(TRAK1):c.1082G>A (p.Arg361Gln)	LOC129936554, TRAK1 (R361Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437228	NM_001042646.3(TRAK1):c.187G>A (p.Gly63Ser)	TRAK1 (G63S)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 68	GUncertain significance
Select item 2437227	NM_001042646.3(TRAK1):c.2774G>T (p.Gly925Val)	TRAK1 (G800V +5 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 68	GUncertain significance
Select item 2013230	NM_001042646.3(TRAK1):c.1085G>A (p.Arg362His)	LOC129936554, TRAK1 (R288H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1340750	GRCh37/hg19 3p22.1(chr3:42182456-42235006)x1	TRAK1	Copy number loss	not provided	GUncertain significance
Select item 1319349	NM_001042646.3(TRAK1):c.1501C>T (p.Arg501Trp)	TRAK1 (R397W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319348	NM_001042646.3(TRAK1):c.286+1G>A	TRAK1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 685451	GRCh37/hg19 3p22.1(chr3:42160760-42183807)x1	TRAK1	Copy number loss	not provided	GUncertain significance