ClinVar for Gene (Select 3645) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 152

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286173	NM_014215.3(INSRR):c.1476C>A (p.Asn492Lys)	INSRR, NTRK1 (N492K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286172	NM_014215.3(INSRR):c.448C>T (p.Leu150Phe)	INSRR, NTRK1 (L150F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286171	NM_014215.3(INSRR):c.999G>C (p.Lys333Asn)	INSRR, NTRK1 (K333N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286170	NM_014215.3(INSRR):c.1208G>T (p.Arg403Leu)	INSRR, NTRK1 (R403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286169	NM_014215.3(INSRR):c.394G>C (p.Gly132Arg)	INSRR, NTRK1 (G132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286168	NM_014215.3(INSRR):c.836G>A (p.Arg279His)	INSRR, NTRK1 (R279H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3109959	NM_014215.3(INSRR):c.961G>A (p.Glu321Lys)	INSRR, NTRK1 (E321K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109958	NM_014215.3(INSRR):c.859C>G (p.Pro287Ala)	INSRR, NTRK1 (P287A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109957	NM_014215.3(INSRR):c.706G>A (p.Gly236Ser)	INSRR, NTRK1 (G236S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109956	NM_014215.3(INSRR):c.596A>G (p.His199Arg)	INSRR, NTRK1 (H199R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109955	NM_014215.3(INSRR):c.458T>C (p.Ile153Thr)	INSRR, NTRK1 (I153T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109954	NM_014215.3(INSRR):c.3719C>T (p.Thr1240Ile)	INSRR, NTRK1 (T1240I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109953	NM_014215.3(INSRR):c.370C>T (p.Arg124Cys)	INSRR, NTRK1 (R124C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109952	NM_014215.3(INSRR):c.3392T>A (p.Ile1131Asn)	INSRR, NTRK1 (I16F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109951	NM_014215.3(INSRR):c.3088G>A (p.Glu1030Lys)	INSRR, NTRK1 (E1030K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109950	NM_014215.3(INSRR):c.3028G>C (p.Val1010Leu)	INSRR, NTRK1 (V1010L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109949	NM_014215.3(INSRR):c.2957G>A (p.Gly986Asp)	INSRR, NTRK1 (G986D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109948	NM_014215.3(INSRR):c.2947C>T (p.Arg983Trp)	INSRR, NTRK1 (R983W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109947	NM_014215.3(INSRR):c.2876A>G (p.Glu959Gly)	INSRR, NTRK1 (E959G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109946	NM_014215.3(INSRR):c.2860G>A (p.Ala954Thr)	INSRR, NTRK1 (A954T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109945	NM_014215.3(INSRR):c.2749G>A (p.Ala917Thr)	INSRR, NTRK1 (A917T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109944	NM_014215.3(INSRR):c.2224G>A (p.Gly742Arg)	INSRR, NTRK1 (G742R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109942	NM_014215.3(INSRR):c.2173A>C (p.Ile725Leu)	INSRR, NTRK1 (I725L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109941	NM_014215.3(INSRR):c.185C>T (p.Thr62Ile)	INSRR, NTRK1 (T62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109940	NM_014215.3(INSRR):c.1390G>C (p.Gly464Arg)	INSRR, NTRK1 (G464R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109939	NM_014215.3(INSRR):c.1216G>A (p.Ala406Thr)	INSRR, NTRK1 (A406T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064661	NM_014215.3(INSRR):c.3397+28C>T	INSRR, NTRK1 (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3025245	NM_014215.3(INSRR):c.3480C>T (p.Ala1160=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2639466	NM_014215.3(INSRR):c.534C>T (p.Asp178=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639465	NM_014215.3(INSRR):c.3042G>A (p.Thr1014=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639464	NM_014215.3(INSRR):c.3339C>T (p.His1113=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617684	NM_014215.3(INSRR):c.1006G>A (p.Asp336Asn)	INSRR, NTRK1 (D336N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613472	NM_014215.3(INSRR):c.2515C>A (p.Pro839Thr)	INSRR, NTRK1 (P839T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604067	NM_014215.3(INSRR):c.2171C>T (p.Pro724Leu)	INSRR, NTRK1 (P724L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596269	NM_014215.3(INSRR):c.2905C>A (p.Pro969Thr)	INSRR, NTRK1 (P969T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591740	NM_014215.3(INSRR):c.3190C>T (p.Arg1064Cys)	INSRR, NTRK1 (R1064C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582867	NM_014215.3(INSRR):c.380C>A (p.Ala127Glu)	INSRR, NTRK1 (A127E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2570740	NM_014215.3(INSRR):c.1020G>A (p.Ala340=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2561892	NM_014215.3(INSRR):c.1945G>A (p.Gly649Ser)	INSRR, NTRK1 (G649S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2560129	NM_014215.3(INSRR):c.260G>A (p.Arg87His)	INSRR, NTRK1 (R87H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556809	NM_014215.3(INSRR):c.3158A>G (p.Gln1053Arg)	INSRR, NTRK1 (Q1053R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555446	NM_014215.3(INSRR):c.3243C>A (p.Asn1081Lys)	INSRR, NTRK1 (N1081K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537026	NM_014215.3(INSRR):c.905C>A (p.Ala302Asp)	INSRR, NTRK1 (A302D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531847	NM_014215.3(INSRR):c.3857G>A (p.Arg1286Lys)	INSRR, NTRK1 (R1286K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2530168	NM_014215.3(INSRR):c.3028G>A (p.Val1010Met)	INSRR, NTRK1 (V1010M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528732	NM_014215.3(INSRR):c.3538G>C (p.Val1180Leu)	INSRR, NTRK1 (V1180L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524062	NM_014215.3(INSRR):c.1891C>A (p.Arg631Ser)	INSRR, NTRK1 (R631S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521187	NM_014215.3(INSRR):c.2668G>A (p.Val890Ile)	INSRR, NTRK1 (V890I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512195	NM_014215.3(INSRR):c.1786G>A (p.Val596Ile)	INSRR, NTRK1 (V596I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 2511678	NM_014215.3(INSRR):c.223C>T (p.Arg75Cys)	INSRR, NTRK1 (R75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498431	NM_014215.3(INSRR):c.285C>T (p.Arg95=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2496081	NM_014215.3(INSRR):c.3601G>T (p.Val1201Leu)	INSRR, NTRK1 (V1201L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491948	NM_014215.3(INSRR):c.584C>A (p.Thr195Asn)	INSRR, NTRK1 (T195N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467545	NM_014215.3(INSRR):c.430A>G (p.Asn144Asp)	INSRR, NTRK1 (N144D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466072	NM_014215.3(INSRR):c.818G>A (p.Arg273His)	INSRR, NTRK1 (R273H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459725	NM_014215.3(INSRR):c.229A>T (p.Thr77Ser)	INSRR, NTRK1 (T77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457846	NM_014215.3(INSRR):c.2062T>C (p.Cys688Arg)	INSRR, NTRK1 (C688R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454496	NM_014215.3(INSRR):c.3484G>A (p.Glu1162Lys)	INSRR, NTRK1 (E1162K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428518	NM_014215.3(INSRR):c.3397+23G>A	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2412160	NM_014215.3(INSRR):c.3751C>T (p.Arg1251Trp)	INSRR, NTRK1 (R1251W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400951	NM_014215.3(INSRR):c.1388G>T (p.Arg463Leu)	INSRR, NTRK1 (R463L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397141	NM_014215.3(INSRR):c.3625G>A (p.Gly1209Arg)	INSRR, NTRK1 (G1209R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394768	NM_014215.3(INSRR):c.3880G>T (p.Gly1294Cys)	INSRR, NTRK1 (G1294C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393534	NM_014215.3(INSRR):c.1043C>A (p.Thr348Lys)	INSRR, NTRK1 (T348K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386655	NM_014215.3(INSRR):c.992G>T (p.Gly331Val)	INSRR, NTRK1 (G331V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386433	NM_014215.3(INSRR):c.2086G>A (p.Gly696Ser)	INSRR, NTRK1 (G696S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376176	NM_014215.3(INSRR):c.1796G>A (p.Arg599Gln)	INSRR, NTRK1 (R599Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371448	NM_014215.3(INSRR):c.127C>T (p.Arg43Cys)	INSRR, NTRK1 (R43C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371159	NM_014215.3(INSRR):c.535G>A (p.Val179Met)	INSRR, NTRK1 (V179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369705	NM_014215.3(INSRR):c.3805C>T (p.Arg1269Trp)	INSRR, NTRK1 (R1269W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359312	NM_014215.3(INSRR):c.376G>A (p.Val126Met)	INSRR, NTRK1 (V126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356561	NM_014215.3(INSRR):c.2525C>T (p.Pro842Leu)	INSRR, NTRK1 (P842L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355379	NM_014215.3(INSRR):c.3538G>A (p.Val1180Met)	INSRR, NTRK1 (V1180M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354542	NM_014215.3(INSRR):c.1883C>G (p.Pro628Arg)	INSRR, NTRK1 (P628R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333772	NM_014215.3(INSRR):c.3736A>T (p.Ile1246Leu)	INSRR, NTRK1 (I1246L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327447	NM_014215.3(INSRR):c.2503C>T (p.Arg835Cys)	INSRR, NTRK1 (R835C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324932	NM_014215.3(INSRR):c.917C>G (p.Ser306Cys)	INSRR, NTRK1 (S306C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309279	NM_014215.3(INSRR):c.2423G>T (p.Arg808Leu)	INSRR, NTRK1 (R808L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302600	NM_014215.3(INSRR):c.1043C>T (p.Thr348Met)	INSRR, NTRK1 (T348M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292757	NM_014215.3(INSRR):c.2504G>T (p.Arg835Leu)	INSRR, NTRK1 (R835L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290274	NM_014215.3(INSRR):c.29G>A (p.Gly10Glu)	INSRR, NTRK1 (G10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287378	NM_014215.3(INSRR):c.2659T>G (p.Ser887Ala)	INSRR, NTRK1 (S887A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285304	NM_014215.3(INSRR):c.3188C>A (p.Thr1063Asn)	INSRR, NTRK1 (T1063N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280576	NM_014215.3(INSRR):c.1948G>T (p.Asp650Tyr)	INSRR, NTRK1 (D650Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276091	NM_014215.3(INSRR):c.2477C>T (p.Ala826Val)	INSRR, NTRK1 (A826V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273094	NM_014215.3(INSRR):c.1979G>A (p.Gly660Asp)	INSRR, NTRK1 (G660D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271432	NM_014215.3(INSRR):c.3286G>A (p.Ala1096Thr)	INSRR, NTRK1 (A1096T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264499	NM_014215.3(INSRR):c.2468C>T (p.Ala823Val)	INSRR, NTRK1 (A823V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261671	NM_014215.3(INSRR):c.547G>A (p.Val183Met)	INSRR, NTRK1 (V183M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261670	NM_014215.3(INSRR):c.524A>G (p.Glu175Gly)	INSRR, NTRK1 (E175G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244580	NM_014215.3(INSRR):c.3470G>T (p.Arg1157Leu)	INSRR, NTRK1 (R1157L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228208	NM_014215.3(INSRR):c.1141T>C (p.Phe381Leu)	INSRR, NTRK1 (F381L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225225	NM_014215.3(INSRR):c.407G>A (p.Arg136His)	INSRR, NTRK1 (R136H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222040	NM_014215.3(INSRR):c.2887G>A (p.Ala963Thr)	INSRR, NTRK1 (A963T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216154	NM_014215.3(INSRR):c.2362C>A (p.His788Asn)	INSRR, NTRK1 (H788N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 2