C0020074[trait identifier] AND "Natera, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259917	NM_006118.4(HAX1):c.159T>C (p.Ser53=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
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 526726	NM_002529.4(NTRK1):c.12C>T (p.Gly4=)	LOC129931648, NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 234386	NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)	LOC129931648, NTRK1 (R6W)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis +4 more	GConflicting classifications of pathogenicity
Select item 965318	NM_002529.4(NTRK1):c.22G>A (p.Gly8Arg)	LOC129931648, NTRK1 (G8R)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 456622	NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln)	NTRK1 (L22Q)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 1108594	NM_002529.4(NTRK1):c.102A>G (p.Ala34=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 847162	NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser)	NTRK1 (P35S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 991731	NM_002529.4(NTRK1):c.116C>A (p.Ala39Asp)	NTRK1 (A39D)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 526732	NM_002529.4(NTRK1):c.140G>C (p.Gly47Ala)	NTRK1 (G47A)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 642171	NM_002529.4(NTRK1):c.152C>T (p.Thr51Ile)	NTRK1 (T51I)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 661248	NM_002529.4(NTRK1):c.157G>A (p.Asp53Asn)	NTRK1 (D53N)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 292871	NM_002529.4(NTRK1):c.157G>C (p.Asp53His)	NTRK1 (D53H)	Single nucleotide variant (missense variant +1 more)	NTRK1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 936750	NM_002529.4(NTRK1):c.164C>A (p.Ala55Asp)	NTRK1 (A55D)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
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 705708	NM_002529.4(NTRK1):c.219C>T (p.Ile73=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +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)	Inborn genetic diseases +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 943854	NM_002529.4(NTRK1):c.244C>A (p.Leu82Met)	NTRK1 (L52M +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 584593	NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	NTRK1 (R55S +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +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 991732	NM_002529.4(NTRK1):c.254G>T (p.Arg85Leu)	NTRK1 (R55L +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 965105	NM_002529.4(NTRK1):c.256G>T (p.Asp86Tyr)	NTRK1 (D56Y +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 859211	NM_002529.4(NTRK1):c.287+2dup	NTRK1	Duplication (splice donor variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 292874	NM_002529.4(NTRK1):c.288-8C>T	NTRK1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 839813	NM_002529.4(NTRK1):c.301A>G (p.Ser101Gly)	NTRK1 (S71G +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 656600	NM_002529.4(NTRK1):c.302G>A (p.Ser101Asn)	NTRK1 (S101N +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 948089	NM_002529.4(NTRK1):c.305G>A (p.Gly102Asp)	NTRK1 (G72D +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 939143	NM_002529.4(NTRK1):c.305G>T (p.Gly102Val)	NTRK1 (G72V +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 456617	NM_002529.4(NTRK1):c.311G>A (p.Arg104His)	NTRK1 (R74H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 705857	NM_002529.4(NTRK1):c.315C>T (p.Phe105=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 760107	NM_002529.4(NTRK1):c.321G>A (p.Ala107=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 584595	NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys)	NTRK1 (R119C +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 526723	NM_002529.4(NTRK1):c.356G>A (p.Arg119His)	NTRK1 (R89H +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 706237	NM_002529.4(NTRK1):c.357C>T (p.Arg119=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
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 456619	NM_002529.4(NTRK1):c.376G>A (p.Ala126Thr)	NTRK1 (A96T +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 950638	NM_002529.4(NTRK1):c.377C>T (p.Ala126Val)	NTRK1 (A96V +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 965869	NM_002529.4(NTRK1):c.401C>A (p.Thr134Asn)	NTRK1 (T104N +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 991733	NM_002529.4(NTRK1):c.435G>C (p.Leu145=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 964880	NM_002529.4(NTRK1):c.437C>T (p.Ser146Leu)	NTRK1 (S146L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1012010	NM_002529.4(NTRK1):c.445C>G (p.Pro149Ala)	NTRK1 (P119A +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 856438	NM_002529.4(NTRK1):c.453C>G (p.His151Gln)	NTRK1 (H121Q +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
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 837934	NM_002529.4(NTRK1):c.500T>G (p.Leu167Arg)	NTRK1 (L137R +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 784764	NM_002529.4(NTRK1):c.504C>T (p.Gly168=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 246246	NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg)	NTRK1 (G139R +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GLikely benign
Select item 991734	NM_002529.4(NTRK1):c.520A>G (p.Lys174Glu)	NTRK1 (K144E +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 637814	NM_002529.4(NTRK1):c.543del (p.Leu183fs)	NTRK1 (L153fs +1 more)	Deletion (frameshift variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 637365	NM_002529.4(NTRK1):c.574+1G>A	NTRK1	Single nucleotide variant (splice donor variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 584597	NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)	NTRK1 (T165M +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 864529	NM_002529.4(NTRK1):c.590A>G (p.Lys197Arg)	NTRK1 (K167R +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 654141	NM_002529.4(NTRK1):c.602C>A (p.Pro201His)	NTRK1 (P171H +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 641894	NM_002529.4(NTRK1):c.605A>G (p.Asn202Ser)	NTRK1 (N202S +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 385060	NM_002529.4(NTRK1):c.612G>A (p.Ser204=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +4 more	GBenign/Likely benign
Select item 765171	NM_002529.4(NTRK1):c.618T>C (p.Asp206=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 655902	NM_002529.4(NTRK1):c.623G>A (p.Gly208Glu)	NTRK1 (G178E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 874705	NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn)	NTRK1 (D180N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 292880	NM_002529.4(NTRK1):c.631G>A (p.Val211Met)	NTRK1 (V181M +1 more)	Single nucleotide variant (missense 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 526734	NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)	NTRK1 (L183P +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GPathogenic/Likely pathogenic
Select item 526731	NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp)	NTRK1 (R184W +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
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 577725	NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln)	NTRK1 (R190Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 566941	NM_002529.4(NTRK1):c.662G>T (p.Gly221Val)	NTRK1 (G221V +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 706075	NM_002529.4(NTRK1):c.675C>T (p.Ala225=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 972493	NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser)	NTRK1 (G196S +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 991735	NM_002529.4(NTRK1):c.787G>A (p.Val263Met)	NTRK1 (V233M +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 772550	NM_002529.4(NTRK1):c.792G>A (p.Thr264=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 456623	NM_002529.4(NTRK1):c.817C>T (p.Arg273Trp)	NTRK1 (R273W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 968061	NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)	NTRK1 (R243Q +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 704862	NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala)	NTRK1 (E245A +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 572332	NM_002529.4(NTRK1):c.844G>A (p.Val282Ile)	NTRK1 (V252I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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)	NTRK1-related disorder +1 more	GBenign/Likely benign
Select item 1062530	NM_002529.4(NTRK1):c.851-7C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 245652	NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)	NTRK1 (Q259K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 526724	NM_002529.4(NTRK1):c.875C>T (p.Thr292Met)	NTRK1 (T262M +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GUncertain significance
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 738382	NM_002529.4(NTRK1):c.879G>A (p.Ala293=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 848302	NM_002529.4(NTRK1):c.899G>A (p.Cys300Tyr)	NTRK1 (C270Y +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 1035754	NM_002529.4(NTRK1):c.917A>T (p.Asp306Val)	NTRK1 (D276V +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 637912	NM_002529.4(NTRK1):c.924_930del (p.Gln308fs)	NTRK1 (Q278fs +1 more)	Deletion (frameshift variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 775976	NM_002529.4(NTRK1):c.927G>A (p.Pro309=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GLikely benign
Select item 855094	NM_002529.4(NTRK1):c.940C>G (p.Arg314Gly)	NTRK1 (R284G +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 526719	NM_002529.4(NTRK1):c.941G>A (p.Arg314His)	NTRK1 (R314H +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GUncertain significance
Select item 703101	NM_002529.4(NTRK1):c.954T>C (p.Asn318=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 991736	NM_002529.4(NTRK1):c.956G>A (p.Gly319Asp)	NTRK1 (G289D +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 1014803	NM_002529.4(NTRK1):c.1004C>A (p.Pro335Gln)	NTRK1 (P305Q +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 662005	NM_002529.4(NTRK1):c.1004C>T (p.Pro335Leu)	NTRK1 (P335L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 763624	NM_002529.4(NTRK1):c.1020C>T (p.Thr340=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign

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