"Eurofins Ntd Llc (ga)"[submitter] AND "NTRK1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 289495	NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)	LOC129931648, NTRK1 (G4S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 234386	NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)	NTRK1, LOC129931648 (R6W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 193129	NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)	NTRK1 (G18E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 246137	NM_002529.4(NTRK1):c.254G>A (p.Arg85His)	NTRK1 (R55H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 292877	NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)	NTRK1 (V140A +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GConflicting classifications of pathogenicity
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 292892	NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)	NTRK1 (S567C +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +3 more	GConflicting classifications of pathogenicity
Select item 37077	NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)	NTRK1 (H598Y +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 12308	NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)	NTRK1 (G607V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 138565	NM_002529.4(NTRK1):c.2047-16T>C	NTRK1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 194476	NM_002529.4(NTRK1):c.2057G>A (p.Arg686His)	NTRK1 (R650H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 292900	NM_002529.4(NTRK1):c.*6C>T	NTRK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity