Related gene-specific medical variations for Gene (Select 114798) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063286	GRCh37/hg19 13q31.1(chr13:84306712-84650729)x1	SLITRK1	Copy number loss	not specified	GUncertain significance
Select item 2436112	NM_001281503.2(SLITRK1):c.1661G>A (p.Ser554Asn)	SLITRK1 (S554N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436111	NM_001281503.2(SLITRK1):c.1108T>G (p.Leu370Val)	SLITRK1 (L370V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 979380	GRCh37/hg19 13q31.1(chr13:84095508-84477377)x1	SLITRK1	Copy number loss	not provided	GUncertain significance
Select item 564010	GRCh37/hg19 13q31.1(chr13:84378439-84586816)x3	SLITRK1	Copy number gain	not provided	GUncertain significance
Select item 564004	GRCh37/hg19 13q31.1(chr13:84306612-84461566)x1	SLITRK1	Copy number loss	not provided	GUncertain significance

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