ClinVar for Gene (Select 4914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376988	NM_002529.4(NTRK1):c.2207C>A (p.Ala736Glu)	NTRK1 (A700E +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 3372507	NM_002529.4(NTRK1):c.274G>A (p.Glu92Lys)	NTRK1 (E62K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370434	NM_002529.4(NTRK1):c.1652del (p.Glu551fs)	NTRK1 (E515fs +2 more)	Deletion (frameshift variant)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 3349231	NM_001007792.1(NTRK1):c.9+5T>C	SH2D2A, NTRK1	Single nucleotide variant (intron variant)	NTRK1-related disorder	GLikely benign
Select item 3301308	NM_002529.4(NTRK1):c.1022T>C (p.Val341Ala)	NTRK1 (V311A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301307	NM_002529.4(NTRK1):c.1660C>T (p.Arg554Trp)	NTRK1 (R554W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301306	NM_002529.4(NTRK1):c.2285G>T (p.Gly762Val)	NTRK1 (G756V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3251807	NM_002529.4(NTRK1):c.2143G>C (p.Val715Leu)	NTRK1 (V679L +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 3251793	NM_002529.4(NTRK1):c.2144T>C (p.Val715Ala)	NTRK1 (V679A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247641	NC_000001.10:g.(?_156841395)_(156843392_?)dup	NTRK1	Duplication	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 3247640	NC_000001.10:g.(?_156841395)_(156844438_?)del	NTRK1	Deletion	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 3247639	NC_000001.10:g.(?_156836682)_(156841567_?)del	NTRK1	Deletion	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 3247638	NC_000001.10:g.(?_156844810)_(156846190_?)del	NTRK1	Deletion	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 3247637	NC_000001.10:g.(?_156830727)_(156836790_?)del	NTRK1	Deletion	Hereditary insensitivity to pain with anhidrosis	GPathogenic
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 3234829	NM_002529.4(NTRK1):c.422A>G (p.Gln141Arg)	NTRK1 (Q111R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234413	NM_002529.4(NTRK1):c.2352G>A (p.Leu784=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233389	NM_002529.4(NTRK1):c.2099T>C (p.Leu700Pro)	NTRK1 (L664P +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 3233365	NM_002529.4(NTRK1):c.1070delinsCTGC (p.Gly357delinsAlaAla)	NTRK1	Indel (inframe_indel)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 3220919	NM_002529.4(NTRK1):c.2T>A (p.Met1Lys)	LOC129931648, NTRK1 (M1K)	Single nucleotide variant (missense variant +2 more)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 3202643	NM_002529.4(NTRK1):c.709A>G (p.Thr237Ala)	NTRK1 (T237A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202642	NM_002529.4(NTRK1):c.59G>A (p.Gly20Asp)	NTRK1 (G20D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202640	NM_002529.4(NTRK1):c.2212G>A (p.Asp738Asn)	NTRK1 (D702N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202639	NM_002529.4(NTRK1):c.1913T>C (p.Met638Thr)	NTRK1 (M602T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3069176	NM_002529.4(NTRK1):c.850+5G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
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 3051205	NM_001007792.1(NTRK1):c.-9A>G	NTRK1, SH2D2A	Single nucleotide variant (5 prime UTR variant +1 more)	NTRK1-related disorder	GLikely benign
Select item 3039924	NM_002529.4(NTRK1):c.1178-31_1178-10del	NTRK1	Microsatellite (intron variant)	NTRK1-related disorder	GLikely benign
Select item 3034984	NM_002529.4(NTRK1):c.851-31dup	NTRK1	Duplication (intron variant)	NTRK1-related disorder	GBenign
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 3022550	NM_002529.4(NTRK1):c.213-5C>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3021842	NM_002529.4(NTRK1):c.461dup (p.Cys154fs)	NTRK1 (C124fs +1 more)	Duplication (frameshift variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 3021206	NM_002529.4(NTRK1):c.1632+21dup	NTRK1	Duplication (intron variant)	Hereditary insensitivity to pain with anhidrosis	GBenign
Select item 3019896	NM_002529.4(NTRK1):c.1354+20G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3019787	NM_002529.4(NTRK1):c.186G>C (p.Leu62=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3018857	NM_002529.4(NTRK1):c.1881G>T (p.Leu627=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3018053	NM_002529.4(NTRK1):c.1818T>C (p.Pro606=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3017331	NM_002529.4(NTRK1):c.1502-14G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3017087	NM_002529.4(NTRK1):c.1196-16C>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3016329	NM_002529.4(NTRK1):c.1633-17C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3015259	NM_002529.4(NTRK1):c.717+17T>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3015096	NM_002529.4(NTRK1):c.2241G>A (p.Glu747=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3014471	NM_002529.4(NTRK1):c.2199C>T (p.Asn733=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3012364	NM_002529.4(NTRK1):c.288-17C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3011201	NM_002529.4(NTRK1):c.287+17C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3011125	NM_002529.4(NTRK1):c.1632+17G>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3009458	NM_002529.4(NTRK1):c.1056C>G (p.Thr352=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3008912	NM_002529.4(NTRK1):c.288-12A>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3007611	NM_002529.4(NTRK1):c.1354+17G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3005849	NM_002529.4(NTRK1):c.2172C>A (p.Gly724=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3003803	NM_002529.4(NTRK1):c.359+21del	NTRK1	Deletion (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3002847	NM_002529.4(NTRK1):c.1884G>A (p.Leu628=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3002533	NM_002529.4(NTRK1):c.429-13C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 3002431	NM_002529.4(NTRK1):c.1302G>T (p.Thr434=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2999614	NM_002529.4(NTRK1):c.1501+7G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2998387	NM_002529.4(NTRK1):c.1252-13T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2992415	NM_002529.4(NTRK1):c.1801dup (p.Leu601fs)	NTRK1 (L595fs +2 more)	Duplication (frameshift variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 2992193	NM_002529.4(NTRK1):c.819G>T (p.Arg273=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2989001	NM_002529.4(NTRK1):c.1104C>A (p.Gly368=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2988071	NM_002529.4(NTRK1):c.2205+8C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2985334	NM_002529.4(NTRK1):c.1355-13G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2983003	NM_002529.4(NTRK1):c.1252-20C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2981215	NM_002529.4(NTRK1):c.212+2T>G	NTRK1	Single nucleotide variant (intron variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 2978510	NM_002529.4(NTRK1):c.1806-20T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2965317	NM_002529.4(NTRK1):c.268_277del (p.Gly89_Leu90insTer)	NTRK1	Deletion (frameshift variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 2961981	NM_002529.4(NTRK1):c.428+18C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2960795	NM_002529.4(NTRK1):c.1628T>A (p.Val543Asp)	NTRK1 (V507D +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2955843	NM_002529.4(NTRK1):c.1196-13T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2955266	NM_002529.4(NTRK1):c.1590C>T (p.His530=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2955210	NM_002529.4(NTRK1):c.1215A>C (p.Gly405=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2955085	NM_002529.4(NTRK1):c.1355-20C>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign

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