"Ambry Genetics"[submitter] AND "NTRK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2394768	NM_014215.3(INSRR):c.3880G>T (p.Gly1294Cys)	INSRR, NTRK1 (G1294C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531847	NM_014215.3(INSRR):c.3857G>A (p.Arg1286Lys)	INSRR, NTRK1 (R1286K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2369705	NM_014215.3(INSRR):c.3805C>T (p.Arg1269Trp)	INSRR, NTRK1 (R1269W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412160	NM_014215.3(INSRR):c.3751C>T (p.Arg1251Trp)	INSRR, NTRK1 (R1251W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214436	NM_014215.3(INSRR):c.3748C>A (p.Leu1250Met)	INSRR, NTRK1 (L1250M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333772	NM_014215.3(INSRR):c.3736A>T (p.Ile1246Leu)	INSRR, NTRK1 (I1246L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397141	NM_014215.3(INSRR):c.3625G>A (p.Gly1209Arg)	INSRR, NTRK1 (G1209R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496081	NM_014215.3(INSRR):c.3601G>T (p.Val1201Leu)	INSRR, NTRK1 (V1201L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528732	NM_014215.3(INSRR):c.3538G>C (p.Val1180Leu)	INSRR, NTRK1 (V1180L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355379	NM_014215.3(INSRR):c.3538G>A (p.Val1180Met)	INSRR, NTRK1 (V1180M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454496	NM_014215.3(INSRR):c.3484G>A (p.Glu1162Lys)	INSRR, NTRK1 (E1162K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244580	NM_014215.3(INSRR):c.3470G>T (p.Arg1157Leu)	NTRK1, INSRR (R1157L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271432	NM_014215.3(INSRR):c.3286G>A (p.Ala1096Thr)	INSRR, NTRK1 (A1096T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555446	NM_014215.3(INSRR):c.3243C>A (p.Asn1081Lys)	INSRR, NTRK1 (N1081K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591740	NM_014215.3(INSRR):c.3190C>T (p.Arg1064Cys)	INSRR, NTRK1 (R1064C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285304	NM_014215.3(INSRR):c.3188C>A (p.Thr1063Asn)	INSRR, NTRK1 (T1063N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556809	NM_014215.3(INSRR):c.3158A>G (p.Gln1053Arg)	INSRR, NTRK1 (Q1053R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530168	NM_014215.3(INSRR):c.3028G>A (p.Val1010Met)	INSRR, NTRK1 (V1010M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596269	NM_014215.3(INSRR):c.2905C>A (p.Pro969Thr)	INSRR, NTRK1 (P969T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222040	NM_014215.3(INSRR):c.2887G>A (p.Ala963Thr)	INSRR, NTRK1 (A963T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207439	NM_014215.3(INSRR):c.2709C>G (p.Asp903Glu)	INSRR, NTRK1 (D903E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521187	NM_014215.3(INSRR):c.2668G>A (p.Val890Ile)	INSRR, NTRK1 (V890I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287378	NM_014215.3(INSRR):c.2659T>G (p.Ser887Ala)	INSRR, NTRK1 (S887A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356561	NM_014215.3(INSRR):c.2525C>T (p.Pro842Leu)	INSRR, NTRK1 (P842L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613472	NM_014215.3(INSRR):c.2515C>A (p.Pro839Thr)	INSRR, NTRK1 (P839T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292757	NM_014215.3(INSRR):c.2504G>T (p.Arg835Leu)	INSRR, NTRK1 (R835L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327447	NM_014215.3(INSRR):c.2503C>T (p.Arg835Cys)	INSRR, NTRK1 (R835C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276091	NM_014215.3(INSRR):c.2477C>T (p.Ala826Val)	INSRR, NTRK1 (A826V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264499	NM_014215.3(INSRR):c.2468C>T (p.Ala823Val)	INSRR, NTRK1 (A823V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309279	NM_014215.3(INSRR):c.2423G>T (p.Arg808Leu)	INSRR, NTRK1 (R808L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216154	NM_014215.3(INSRR):c.2362C>A (p.His788Asn)	INSRR, NTRK1 (H788N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604067	NM_014215.3(INSRR):c.2171C>T (p.Pro724Leu)	INSRR, NTRK1 (P724L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386433	NM_014215.3(INSRR):c.2086G>A (p.Gly696Ser)	INSRR, NTRK1 (G696S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457846	NM_014215.3(INSRR):c.2062T>C (p.Cys688Arg)	INSRR, NTRK1 (C688R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273094	NM_014215.3(INSRR):c.1979G>A (p.Gly660Asp)	INSRR, NTRK1 (G660D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280576	NM_014215.3(INSRR):c.1948G>T (p.Asp650Tyr)	INSRR, NTRK1 (D650Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561892	NM_014215.3(INSRR):c.1945G>A (p.Gly649Ser)	INSRR, NTRK1 (G649S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2524062	NM_014215.3(INSRR):c.1891C>A (p.Arg631Ser)	INSRR, NTRK1 (R631S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354542	NM_014215.3(INSRR):c.1883C>G (p.Pro628Arg)	INSRR, NTRK1 (P628R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376176	NM_014215.3(INSRR):c.1796G>A (p.Arg599Gln)	INSRR, NTRK1 (R599Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512195	NM_014215.3(INSRR):c.1786G>A (p.Val596Ile)	NTRK1, INSRR (V596I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2206476	NM_014215.3(INSRR):c.1736C>G (p.Thr579Arg)	NTRK1, INSRR (T579R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400951	NM_014215.3(INSRR):c.1388G>T (p.Arg463Leu)	INSRR, NTRK1 (R463L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228208	NM_014215.3(INSRR):c.1141T>C (p.Phe381Leu)	INSRR, NTRK1 (F381L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393534	NM_014215.3(INSRR):c.1043C>A (p.Thr348Lys)	INSRR, NTRK1 (T348K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302600	NM_014215.3(INSRR):c.1043C>T (p.Thr348Met)	INSRR, NTRK1 (T348M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617684	NM_014215.3(INSRR):c.1006G>A (p.Asp336Asn)	INSRR, NTRK1 (D336N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386655	NM_014215.3(INSRR):c.992G>T (p.Gly331Val)	INSRR, NTRK1 (G331V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324932	NM_014215.3(INSRR):c.917C>G (p.Ser306Cys)	INSRR, NTRK1 (S306C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537026	NM_014215.3(INSRR):c.905C>A (p.Ala302Asp)	INSRR, NTRK1 (A302D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466072	NM_014215.3(INSRR):c.818G>A (p.Arg273His)	INSRR, NTRK1 (R273H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211477	NM_014215.3(INSRR):c.748C>T (p.Arg250Cys)	INSRR, NTRK1 (R250C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491948	NM_014215.3(INSRR):c.584C>A (p.Thr195Asn)	INSRR, NTRK1 (T195N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261671	NM_014215.3(INSRR):c.547G>A (p.Val183Met)	INSRR, NTRK1 (V183M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371159	NM_014215.3(INSRR):c.535G>A (p.Val179Met)	INSRR, NTRK1 (V179M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261670	NM_014215.3(INSRR):c.524A>G (p.Glu175Gly)	INSRR, NTRK1 (E175G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467545	NM_014215.3(INSRR):c.430A>G (p.Asn144Asp)	INSRR, NTRK1 (N144D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225225	NM_014215.3(INSRR):c.407G>A (p.Arg136His)	INSRR, NTRK1 (R136H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359312	NM_014215.3(INSRR):c.376G>A (p.Val126Met)	INSRR, NTRK1 (V126M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560129	NM_014215.3(INSRR):c.260G>A (p.Arg87His)	INSRR, NTRK1 (R87H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459725	NM_014215.3(INSRR):c.229A>T (p.Thr77Ser)	INSRR, NTRK1 (T77S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511678	NM_014215.3(INSRR):c.223C>T (p.Arg75Cys)	INSRR, NTRK1 (R75C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371448	NM_014215.3(INSRR):c.127C>T (p.Arg43Cys)	INSRR, NTRK1 (R43C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290274	NM_014215.3(INSRR):c.29G>A (p.Gly10Glu)	INSRR, NTRK1 (G10E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 991730	NM_002529.4(NTRK1):c.7C>G (p.Arg3Gly)	LOC129931648, NTRK1 (R3G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 289495	NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)	LOC129931648, NTRK1 (G4S)	Single nucleotide variant (missense variant +1 more)	NTRK1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1771769	NM_002529.4(NTRK1):c.13G>A (p.Gly5Arg)	LOC129931648, NTRK1 (G5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 234386	NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)	LOC129931648, NTRK1 (R6W)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1750392	NM_002529.4(NTRK1):c.58G>A (p.Gly20Ser)	NTRK1 (G20S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1763250	NM_002529.4(NTRK1):c.83T>G (p.Leu28Arg)	NTRK1 (L28R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 664786	NM_002529.4(NTRK1):c.88T>C (p.Ser30Pro)	NTRK1 (S30P)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 1765397	NM_002529.4(NTRK1):c.89C>A (p.Ser30Tyr)	NTRK1 (S30Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1442011	NM_002529.4(NTRK1):c.97G>T (p.Ala33Ser)	NTRK1 (A33S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 847162	NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser)	NTRK1 (P35S)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 292871	NM_002529.4(NTRK1):c.157G>C (p.Asp53His)	NTRK1 (D53H)	Single nucleotide variant (missense variant +1 more)	NTRK1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 573468	NM_002529.4(NTRK1):c.185T>C (p.Leu62Pro)	NTRK1 (L62P)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis +2 more	GUncertain significance
Select item 705708	NM_002529.4(NTRK1):c.219C>T (p.Ile73=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 575483	NM_002529.4(NTRK1):c.236T>A (p.Leu79Gln)	NTRK1 (L49Q +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 526730	NM_002529.4(NTRK1):c.239A>G (p.Gln80Arg)	NTRK1 (Q80R +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 584593	NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	NTRK1 (R55S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 526721	NM_002529.4(NTRK1):c.253C>T (p.Arg85Cys)	NTRK1 (R55C +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
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 513835	NM_002529.4(NTRK1):c.279G>A (p.Leu93=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 456615	NM_002529.4(NTRK1):c.280A>C (p.Arg94=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 876595	NM_002529.4(NTRK1):c.288-5C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 456616	NM_002529.4(NTRK1):c.295G>A (p.Val99Met)	NTRK1 (V99M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 456617	NM_002529.4(NTRK1):c.311G>A (p.Arg104His)	NTRK1 (R74H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 655441	NM_002529.4(NTRK1):c.316G>A (p.Val106Met)	NTRK1 (V106M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 577719	NM_002529.4(NTRK1):c.320C>T (p.Ala107Val)	NTRK1 (A107V +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 380624	NM_002529.4(NTRK1):c.321G>T (p.Ala107=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 526723	NM_002529.4(NTRK1):c.356G>A (p.Arg119His)	NTRK1 (R89H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1155906	NM_002529.4(NTRK1):c.360-4G>A	NTRK1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 456618	NM_002529.4(NTRK1):c.366C>G (p.Leu122=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 292875	NM_002529.4(NTRK1):c.375C>T (p.Asn125=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1734833	NM_002529.4(NTRK1):c.377C>A (p.Ala126Asp)	NTRK1 (A126D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1736432	NM_002529.4(NTRK1):c.394T>C (p.Trp132Arg)	NTRK1 (W132R +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 1736604	NM_002529.4(NTRK1):c.396G>C (p.Trp132Cys)	NTRK1 (W102C +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 2280954	NM_002529.4(NTRK1):c.406C>A (p.Gln136Lys)	NTRK1 (Q106K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1739071	NM_002529.4(NTRK1):c.424G>A (p.Glu142Lys)	NTRK1 (E142K +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 1129501	NM_002529.4(NTRK1):c.429-3del	NTRK1	Deletion (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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