C0020074[trait identifier] AND "Counsyl"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555070	NM_001007792.1(NTRK1):c.24C>A (p.Cys8Ter)	INSRR, NTRK1 (C8*)	Single nucleotide variant (nonsense +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 552224	NM_001007792.1(NTRK1):c.33C>A (p.Pro11=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 198111	NM_002529.4(NTRK1):c.710C>T (p.Thr237Met)	NTRK1 (T207M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 553221	NM_002529.4(NTRK1):c.1196-1G>A	NTRK1	Single nucleotide variant (splice acceptor variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic/Likely pathogenic
Select item 552083	NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup)	NTRK1	Duplication (inframe_insertion)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 557905	NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)	NTRK1 (R725W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 235534	NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)	NTRK1 (R744Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

ClinVar