"GeneDx"[submitter] AND "NTRK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 667736	NM_001012331.1(NTRK1):c.-45371T>C	NTRK1, SH2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221990	NM_001007792.1(NTRK1):c.-75del	NTRK1, SH2D2A	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 380853	NM_003975.4(SH2D2A):c.123+181C>T	NTRK1, SH2D2A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 1200010	NM_001007792.1(NTRK1):c.9+103T>C	NTRK1, SH2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225268	NM_001007792.1(NTRK1):c.9+133del	NTRK1, SH2D2A	Deletion (intron variant)	not provided	GBenign
Select item 667767	NM_001007792.1(NTRK1):c.9+141A>G	NTRK1, SH2D2A	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GBenign
Select item 667768	NM_001007792.1(NTRK1):c.9+149G>A	NTRK1, SH2D2A	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GBenign
Select item 1215621	NM_001007792.1(NTRK1):c.10-67C>G	INSRR, NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310344	NM_001007792.1(NTRK1):c.72C>G (p.Thr24=)	INSRR, NTRK1 (M1122I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1187999	NM_001007792.1(NTRK1):c.122+160G>C	INSRR, NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269629	NM_001007792.1(NTRK1):c.123-3660C>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208641	NM_001007792.1(NTRK1):c.123-3611G>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386756	NM_002529.4(NTRK1):c.-44C>T	NTRK1, LOC129931647	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 378305	NM_002529.4(NTRK1):c.-39A>G	LOC129931647, NTRK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 514261	NM_002529.4(NTRK1):c.-28C>A	LOC129931647, NTRK1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 1313367	NM_002529.4(NTRK1):c.92C>T (p.Ala31Val)	NTRK1 (A31V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 429790	NM_002529.4(NTRK1):c.119_120insT (p.Cys41fs)	NTRK1 (C41fs)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2142477	NM_002529.4(NTRK1):c.130G>A (p.Gly44Ser)	NTRK1 (G44S)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 292871	NM_002529.4(NTRK1):c.157G>C (p.Asp53His)	NTRK1 (D53H)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis +2 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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 292872	NM_002529.4(NTRK1):c.212+10C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 1195247	NM_002529.4(NTRK1):c.212+107C>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249089	NM_002529.4(NTRK1):c.212+130_212+160del	NTRK1	Deletion (intron variant)	not provided	GBenign
Select item 1246925	NM_002529.4(NTRK1):c.212+156C>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203315	NM_002529.4(NTRK1):c.212+237G>C	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677592	NM_002529.4(NTRK1):c.213-233A>G	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191075	NM_002529.4(NTRK1):c.213-3C>A	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 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 513835	NM_002529.4(NTRK1):c.279G>A (p.Leu93=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 292873	NM_002529.4(NTRK1):c.287+12G>A	NTRK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1266752	NM_002529.4(NTRK1):c.287+49G>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263623	NM_002529.4(NTRK1):c.287+84G>A	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229598	NM_002529.4(NTRK1):c.287+144G>A	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 292874	NM_002529.4(NTRK1):c.288-8C>T	NTRK1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 388090	NM_002529.4(NTRK1):c.291C>T (p.Thr97=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 380624	NM_002529.4(NTRK1):c.321G>T (p.Ala107=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GLikely benign
Select item 391056	NM_002529.4(NTRK1):c.428+12C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GLikely benign
Select item 292876	NM_002529.4(NTRK1):c.428+12C>A	NTRK1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1235335	NM_002529.4(NTRK1):c.428+47C>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235923	NM_002529.4(NTRK1):c.428+68T>C	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229693	NM_002529.4(NTRK1):c.428+197A>G	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246146	NM_002529.4(NTRK1):c.429-257G>A	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181742	NM_002529.4(NTRK1):c.429-189C>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252328	NM_002529.4(NTRK1):c.429-49T>C	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302927	NM_002529.4(NTRK1):c.429-1G>A	NTRK1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 245924	NM_002529.4(NTRK1):c.470G>A (p.Arg157His)	NTRK1 (R127H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 378306	NM_002529.4(NTRK1):c.482G>A (p.Arg161His)	NTRK1 (R131H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer +2 more	GConflicting classifications of pathogenicity
Select item 246246	NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg)	NTRK1 (G139R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely 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 245651	NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter)	NTRK1 (Q146* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 390018	NM_002529.4(NTRK1):c.531T>C (p.Cys177=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GLikely benign
Select item 526740	NM_002529.4(NTRK1):c.549G>T (p.Leu183=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GLikely benign
Select item 245727	NM_002529.4(NTRK1):c.560C>T (p.Pro187Leu)	NTRK1 (P157L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 292878	NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)	NTRK1 (S160R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 380669	NM_002529.4(NTRK1):c.574+10G>A	NTRK1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 667738	NM_002529.4(NTRK1):c.574+100T>C	NTRK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1186749	NM_002529.4(NTRK1):c.575-65A>G	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1073315	NM_002529.4(NTRK1):c.575-19G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GPathogenic/Likely pathogenic
Select item 526742	NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala)	NTRK1 (G162A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 292879	NM_002529.4(NTRK1):c.585G>A (p.Thr195=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 385060	NM_002529.4(NTRK1):c.612G>A (p.Ser204=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +3 more	GBenign/Likely benign
Select item 378307	NM_002529.4(NTRK1):c.630C>T (p.Asp210=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 418391	NM_002529.4(NTRK1):c.632T>A (p.Val211Glu)	NTRK1 (V181E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 292881	NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)	NTRK1 (R184Q +1 more)	Single nucleotide variant (missense variant)	not provided +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 514283	NM_002529.4(NTRK1):c.711G>A (p.Thr237=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 678229	NM_002529.4(NTRK1):c.717+86G>C	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197631	NM_002529.4(NTRK1):c.718-206dup	NTRK1	Duplication (intron variant)	not provided	GLikely benign
Select item 667741	NM_002529.4(NTRK1):c.718-156A>C	NTRK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185762	NM_002529.4(NTRK1):c.718-79G>A	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514495	NM_002529.4(NTRK1):c.718-15T>C	NTRK1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 429472	NM_002529.4(NTRK1):c.787G>C (p.Val263Leu)	NTRK1 (V233L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 665609	NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn)	NTRK1 (D240N +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 584598	NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser)	NTRK1 (N251S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 667743	NM_002529.4(NTRK1):c.850+127G>A	NTRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178303	NM_002529.4(NTRK1):c.850+323C>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178956	NM_002529.4(NTRK1):c.851-91C>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209030	NM_002529.4(NTRK1):c.851-37G>A	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 21308	NM_002529.4(NTRK1):c.851-33T>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GPathogenic
Select item 1188547	NM_002529.4(NTRK1):c.851-30C>A	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 245652	NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)	NTRK1 (Q259K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer +4 more	GConflicting classifications of pathogenicity
Select item 647824	NM_002529.4(NTRK1):c.878C>T (p.Ala293Val)	NTRK1 (A263V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 245994	NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)	NTRK1 (R284C +1 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +2 more	GConflicting classifications of pathogenicity
Select item 2183031	NM_002529.4(NTRK1):c.945_949del (p.Trp315fs)	NTRK1 (W285fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2430985	NM_002529.4(NTRK1):c.1040_1041delinsCT (p.Arg347Pro)	NTRK1 (R317P +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 384787	NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +3 more	GConflicting classifications of pathogenicity
Select item 381387	NM_002529.4(NTRK1):c.1077C>T (p.Tyr359=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GLikely benign
Select item 292883	NM_002529.4(NTRK1):c.1080G>A (p.Thr360=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GBenign/Likely benign
Select item 1020630	NM_002529.4(NTRK1):c.1139A>G (p.Asp380Gly)	NTRK1 (D350G +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 1205090	NM_002529.4(NTRK1):c.1177+69A>G	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218309	NM_002529.4(NTRK1):c.1178-108C>T	NTRK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706229	NM_002529.4(NTRK1):c.1203C>A (p.Asn401Lys)	NTRK1 (N365K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 292884	NM_002529.4(NTRK1):c.1236C>T (p.Asp412=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 292885	NM_002529.4(NTRK1):c.1252-15C>G	NTRK1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 516394	NM_002529.4(NTRK1):c.1257G>A (p.Ser419=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1315021	NM_002529.4(NTRK1):c.1276G>A (p.Val426Ile)	NTRK1 (V390I +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GUncertain significance
Select item 966607	NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)	NTRK1 (N404K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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