"Baylor Genetics"[submitter] AND "NTRK1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584593	NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	NTRK1 (R55S +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GConflicting classifications of pathogenicity
Select item 209177	NM_002529.4(NTRK1):c.360-2A>C	NTRK1	Single nucleotide variant (splice acceptor variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic/Likely pathogenic
Select item 637475	NM_002529.4(NTRK1):c.429-1G>C	NTRK1	Single nucleotide variant (splice acceptor variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 1031723	NM_002529.4(NTRK1):c.785A>G (p.Asn262Ser)	NTRK1 (N262S +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 968061	NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)	NTRK1 (R243Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 209178	NM_002529.4(NTRK1):c.1040G>C (p.Arg347Pro)	NTRK1 (R317P +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 21306	NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs)	NTRK1 (P585fs +2 more)	Insertion (frameshift variant)	not provided +1 more	GPathogenic

ClinVar