NTRK3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 1285761	NM_001012338.3(NTRK3):c.*197AT[12]	NTRK3	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1226773	NM_001012338.3(NTRK3):c.*99G>A	NTRK3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2496265	NM_001012338.3(NTRK3):c.2380G>A (p.Val794Ile)	NTRK3 (V772I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236984	NM_001012338.3(NTRK3):c.2334+164del	NTRK3	Deletion (intron variant)	not provided	GBenign
Select item 1249082	NM_001012338.3(NTRK3):c.2334+38G>A	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2468439	NM_001012338.3(NTRK3):c.2297A>G (p.Tyr766Cys)	NTRK3 (Y752C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025872	NM_001012338.3(NTRK3):c.2256T>C (p.Asp752=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275729	NM_001012338.3(NTRK3):c.2175+223G>T	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223297	NM_001012338.3(NTRK3):c.2134-110T>C	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260811	NM_001012338.3(NTRK3):c.2134-175T>C	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 1284241	NM_001012338.3(NTRK3):c.2133+252T>C	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728604	NM_001012338.3(NTRK3):c.2094C>T (p.Phe698=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050423	NM_001012338.3(NTRK3):c.1933C>T (p.Arg645Cys)	NTRK3 (R547C +2 more)	Single nucleotide variant (missense variant)	NTRK3-related disorder	GBenign
Select item 736201	NM_001012338.3(NTRK3):c.1896T>C (p.His632=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1276265	NM_001012338.3(NTRK3):c.1889+77T>G	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3301314	NM_001012338.3(NTRK3):c.1871A>G (p.Asp624Gly)	NTRK3 (D624G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1195987	NM_001012338.3(NTRK3):c.1868G>A (p.Gly623Glu)	NTRK3 (G525E +2 more)	Single nucleotide variant (missense variant)	Entrectinib resistance +4 more	Gother
Select item 1195986	NM_001012338.3(NTRK3):c.1868G>C (p.Gly623Ala)	NTRK3 (G525A +2 more)	Single nucleotide variant (missense variant)	Entrectinib resistance	Gother
Select item 2253033	NM_001012338.3(NTRK3):c.1835C>A (p.Pro612His)	NTRK3 (P612H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749647	NM_001012338.3(NTRK3):c.1818G>T (p.Val606=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059099	NM_001012338.3(NTRK3):c.1767C>T (p.Ala589=)	NTRK3	Single nucleotide variant (synonymous variant)	NTRK3-related disorder	GBenign
Select item 2594485	NM_001012338.3(NTRK3):c.1765G>A (p.Ala589Thr)	NTRK3 (A491T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761964	NM_001012338.3(NTRK3):c.1752T>C (p.Asp584=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275495	NM_001012338.3(NTRK3):c.1717-271G>A	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238859	NM_001012338.3(NTRK3):c.1716+260T>C	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725325	NM_001012338.3(NTRK3):c.1704T>C (p.Leu568=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3202652	NM_001012338.3(NTRK3):c.1690A>C (p.Lys564Gln)	NTRK3 (K556Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039281	NM_001012338.3(NTRK3):c.1686G>A (p.Pro562=)	NTRK3	Single nucleotide variant (synonymous variant)	NTRK3-related disorder	GLikely benign
Select item 3202651	NM_001012338.3(NTRK3):c.1678C>G (p.Leu560Val)	NTRK3 (L462V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719516	NM_001012338.3(NTRK3):c.1665C>T (p.Ala555=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1229466	NM_001012338.3(NTRK3):c.1586-39049C>A	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251663	NM_001012338.3(NTRK3):c.1586-39051G>A	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295982	NM_001012338.3(NTRK3):c.1586-40804T>C	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295997	NM_001012338.3(NTRK3):c.1585+202G>A	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784618	NM_001012338.3(NTRK3):c.1503G>A (p.Val501=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 619068	NM_001012338.3(NTRK3):c.1495G>A (p.Asp499Asn)	NTRK3 (D499N +2 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 3301312	NM_001012338.3(NTRK3):c.1492C>T (p.Pro498Ser)	NTRK3 (P498S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251369	NM_001012338.3(NTRK3):c.1488C>G (p.Ala496=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708178	NM_001012338.3(NTRK3):c.1488C>A (p.Ala496=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2603812	NM_001012338.3(NTRK3):c.1459G>A (p.Gly487Ser)	NTRK3 (G479S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055801	NM_001012338.3(NTRK3):c.1458C>T (p.His486=)	NTRK3	Single nucleotide variant (synonymous variant)	NTRK3-related disorder	GBenign
Select item 1178216	NM_001012338.3(NTRK3):c.1396+339A>G	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274861	NM_001012338.3(NTRK3):c.1396+310C>T	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277211	NM_001012338.3(NTRK3):c.1396+120C>G	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295969	NM_001012338.3(NTRK3):c.1293+280A>T	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272721	NM_001012338.3(NTRK3):c.1229-273G>C	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239549	NM_001012338.3(NTRK3):c.1229-301A>C	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3202648	NM_001012338.3(NTRK3):c.1211C>T (p.Thr404Met)	NTRK3 (T306M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 752236	NM_001012338.3(NTRK3):c.1205-4G>A	NTRK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3033741	NM_001012338.3(NTRK3):c.1173C>T (p.Ile391=)	NTRK3	Single nucleotide variant (synonymous variant)	NTRK3-related disorder	GLikely benign
Select item 2331397	NM_001012338.3(NTRK3):c.1166A>G (p.Gln389Arg)	NTRK3 (Q389R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202647	NM_001012338.3(NTRK3):c.1164C>G (p.Asn388Lys)	NTRK3 (N290K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800039	NM_001012338.3(NTRK3):c.1089G>A (p.Leu363=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535698	NM_001012338.3(NTRK3):c.1052A>T (p.Glu351Val)	NTRK3 (E253V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046594	NM_001012338.3(NTRK3):c.1035C>G (p.Ser345=)	NTRK3	Single nucleotide variant (synonymous variant)	NTRK3-related disorder	GLikely benign
Select item 3301313	NM_001012338.3(NTRK3):c.1028G>T (p.Arg343Leu)	NTRK3 (R245L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035627	NM_001012338.3(NTRK3):c.930G>T (p.Leu310=)	NTRK3	Single nucleotide variant (synonymous variant)	NTRK3-related disorder	GLikely benign
Select item 1221352	NM_001012338.3(NTRK3):c.908-52A>G	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2257275	NM_001012338.3(NTRK3):c.887G>T (p.Ser296Ile)	NTRK3 (S198I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301311	NM_001012338.3(NTRK3):c.866T>C (p.Val289Ala)	NTRK3 (V289A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279802	NM_001012338.3(NTRK3):c.806C>T (p.Thr269Met)	NTRK3 (T171M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791596	NM_001012338.3(NTRK3):c.802T>C (p.Leu268=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 782888	NM_001012338.3(NTRK3):c.765+9C>G	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2320394	NM_001012338.3(NTRK3):c.755A>G (p.Asn252Ser)	NTRK3 (N154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791597	NM_001012338.3(NTRK3):c.678= (p.Asn226=)	NTRK3	Variation (no sequence alteration +1 more)	not provided	GLikely benign
Select item 743193	NM_001012338.3(NTRK3):c.660C>T (p.Thr220=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1181452	NM_001012338.3(NTRK3):c.623-260C>T	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227513	NM_001012338.3(NTRK3):c.573C>T (p.Asn191=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053276	NM_001012338.3(NTRK3):c.516G>A (p.Gln172=)	NTRK3	Single nucleotide variant (synonymous variant)	NTRK3-related disorder	GLikely benign
Select item 3348872	NM_001012338.3(NTRK3):c.514C>T (p.Gln172Ter)	NTRK3 (Q172* +1 more)	Single nucleotide variant (nonsense)	NTRK3-related disorder	GUncertain significance
Select item 1286942	NM_001012338.3(NTRK3):c.465-151C>A	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254943	NM_001012338.3(NTRK3):c.465-195A>T	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286442	NM_001012338.3(NTRK3):c.396-150AAG[17]	NTRK3	Microsatellite (intron variant)	not provided	GBenign
Select item 1295963	NM_001012338.3(NTRK3):c.396-150AAG[9]	NTRK3	Microsatellite (intron variant)	not provided	GBenign
Select item 1273002	NM_001012338.3(NTRK3):c.396-150AAG[14]	NTRK3	Microsatellite (intron variant)	not provided	GBenign
Select item 1263548	NM_001012338.3(NTRK3):c.396-150AAG[13]	NTRK3	Microsatellite (intron variant)	not provided	GBenign
Select item 1261293	NM_001012338.3(NTRK3):c.396-150AAG[15]	NTRK3	Microsatellite (intron variant)	not provided	GBenign
Select item 1249153	NM_001012338.3(NTRK3):c.395+244C>T	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250468	NM_001012338.3(NTRK3):c.395+63C>T	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282760	NM_001012338.3(NTRK3):c.323+120G>C	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774338	NM_001012338.3(NTRK3):c.309C>T (p.Thr103=)	NTRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1685992	NM_001012338.3(NTRK3):c.278C>T (p.Thr93Met)	NTRK3 (T93M)	Single nucleotide variant (missense variant +1 more)	Neonatal cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1228998	NM_001012338.3(NTRK3):c.249-221T>A	NTRK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264869	NM_001012338.3(NTRK3):c.248+320dup	NTRK3, NTRK3-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1234989	NM_001012338.3(NTRK3):c.248+325T>A	NTRK3, NTRK3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3301310	NM_001012338.3(NTRK3):c.148G>A (p.Asp50Asn)	NTRK3, NTRK3-AS1 (D50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202650	NM_001012338.3(NTRK3):c.148G>T (p.Asp50Tyr)	NTRK3, NTRK3-AS1 (D50Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202649	NM_001012338.3(NTRK3):c.140G>A (p.Arg47Gln)	NTRK3-AS1, NTRK3 (R47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299885	NM_001012338.3(NTRK3):c.137G>C (p.Arg46Pro)	NTRK3, NTRK3-AS1 (R46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534073	NM_001012338.3(NTRK3):c.131A>G (p.Asn44Ser)	NTRK3, NTRK3-AS1 (N44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740595	NM_001012338.3(NTRK3):c.84C>G (p.Ser28=)	NTRK3, NTRK3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341419	NM_001012338.3(NTRK3):c.83C>T (p.Ser28Phe)	NTRK3, NTRK3-AS1 (S28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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