NTRK1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1947683	NM_002529.4(NTRK1):c.51G>A (p.Ala17=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1090558	NM_002529.4(NTRK1):c.51G>C (p.Ala17=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 1110659	NM_002529.4(NTRK1):c.54G>A (p.Gly18=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1137336	NM_002529.4(NTRK1):c.57G>A (p.Pro19=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1099216	NM_002529.4(NTRK1):c.57G>T (p.Pro19=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1750392	NM_002529.4(NTRK1):c.58G>A (p.Gly20Ser)	NTRK1 (G20S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2827610	NM_002529.4(NTRK1):c.60C>A (p.Gly20=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1474530	NM_002529.4(NTRK1):c.61A>G (p.Ser21Gly)	NTRK1 (S21G)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 1388397	NM_002529.4(NTRK1):c.63C>G (p.Ser21Arg)	NTRK1 (S21R)	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 1085124	NM_002529.4(NTRK1):c.66G>C (p.Leu22=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1426569	NM_002529.4(NTRK1):c.70G>T (p.Ala24Ser)	NTRK1 (A24S)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 1763250	NM_002529.4(NTRK1):c.83T>G (p.Leu28Arg)	NTRK1 (L28R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1765397	NM_002529.4(NTRK1):c.89C>A (p.Ser30Tyr)	NTRK1 (S30Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1598006	NM_002529.4(NTRK1):c.90T>G (p.Ser30=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely 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 1502739	NM_002529.4(NTRK1):c.95G>T (p.Gly32Val)	NTRK1 (G32V)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2026562	NM_002529.4(NTRK1):c.96C>T (p.Gly32=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1442011	NM_002529.4(NTRK1):c.97G>T (p.Ala33Ser)	NTRK1 (A33S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1150114	NM_002529.4(NTRK1):c.99C>T (p.Ala33=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 2789394	NM_002529.4(NTRK1):c.105C>A (p.Pro35=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2185711	NM_002529.4(NTRK1):c.108C>T (p.Cys36=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1100749	NM_002529.4(NTRK1):c.111C>T (p.Pro37=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2181069	NM_002529.4(NTRK1):c.116C>T (p.Ala39Val)	NTRK1 (A39V)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
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 1120409	NM_002529.4(NTRK1):c.117C>G (p.Ala39=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 705137	NM_002529.4(NTRK1):c.117C>T (p.Ala39=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 2824885	NM_002529.4(NTRK1):c.126_127dup (p.His43fs)	NTRK1 (H43fs)	Duplication (frameshift variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 1953609	NM_002529.4(NTRK1):c.123C>T (p.Cys41=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 843966	NM_002529.4(NTRK1):c.131G>A (p.Gly44Asp)	NTRK1 (G44D)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2859459	NM_002529.4(NTRK1):c.132C>T (p.Gly44=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2149124	NM_002529.4(NTRK1):c.140del (p.Gly47fs)	NTRK1 (G47fs)	Deletion (frameshift variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 1407346	NM_002529.4(NTRK1):c.138G>A (p.Ser46=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 736602	NM_002529.4(NTRK1):c.138G>C (p.Ser46=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 2854617	NM_002529.4(NTRK1):c.145C>A (p.Arg49=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2150351	NM_002529.4(NTRK1):c.145C>G (p.Arg49Gly)	NTRK1 (R49G)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 841835	NM_002529.4(NTRK1):c.148T>C (p.Cys50Arg)	NTRK1 (C50R)	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 1948040	NM_002529.4(NTRK1):c.155G>A (p.Arg52Gln)	NTRK1 (R52Q)	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)	Hereditary insensitivity to pain with anhidrosis +2 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 2694014	NM_002529.4(NTRK1):c.165C>T (p.Ala55=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1933815	NM_002529.4(NTRK1):c.171T>G (p.Asp57Glu)	NTRK1 (D57E)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 1395690	NM_002529.4(NTRK1):c.172A>C (p.Ser58Arg)	NTRK1 (S58R)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 1594567	NM_002529.4(NTRK1):c.178C>A (p.His60Asn)	NTRK1 (H60N)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 762815	NM_002529.4(NTRK1):c.183C>T (p.His61=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 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 1094442	NM_002529.4(NTRK1):c.186G>A (p.Leu62=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2182834	NM_002529.4(NTRK1):c.188C>G (p.Pro63Arg)	NTRK1 (P63R)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 1092947	NM_002529.4(NTRK1):c.189C>G (p.Pro63=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2008211	NM_002529.4(NTRK1):c.190G>T (p.Gly64Cys)	NTRK1 (G64C)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 1354674	NM_002529.4(NTRK1):c.190G>A (p.Gly64Ser)	NTRK1 (G64S)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2013155	NM_002529.4(NTRK1):c.193G>C (p.Ala65Pro)	NTRK1 (A65P)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 859767	NM_002529.4(NTRK1):c.193G>A (p.Ala65Thr)	NTRK1 (A65T)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2839119	NM_002529.4(NTRK1):c.195A>G (p.Ala65=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 963081	NM_002529.4(NTRK1):c.197A>G (p.Glu66Gly)	NTRK1 (E66G)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2734003	NM_002529.4(NTRK1):c.200del (p.Asn67fs)	NTRK1 (N67fs)	Deletion (frameshift variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 1145573	NM_002529.4(NTRK1):c.201C>T (p.Asn67=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1111320	NM_002529.4(NTRK1):c.202C>T (p.Leu68=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 578718	NM_002529.4(NTRK1):c.202C>G (p.Leu68Val)	NTRK1 (L68V)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 29920	NM_002529.4(NTRK1):c.207_208del (p.Glu70fs)	NTRK1 (E70fs)	Deletion (frameshift variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 1994087	NM_002529.4(NTRK1):c.210G>A (p.Glu70=)	NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2151694	NM_002529.4(NTRK1):c.211C>T (p.Leu71Phe)	NTRK1 (L71F)	Single nucleotide variant (missense variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
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 2870471	NM_002529.4(NTRK1):c.212+2T>C	NTRK1	Single nucleotide variant (intron variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 2414188	NM_002529.4(NTRK1):c.212+5G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2091618	NM_002529.4(NTRK1):c.212+5G>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	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 2148542	NM_002529.4(NTRK1):c.212+11G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2802754	NM_002529.4(NTRK1):c.212+12G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2084975	NM_002529.4(NTRK1):c.212+13C>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2842154	NM_002529.4(NTRK1):c.212+15G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1586412	NM_002529.4(NTRK1):c.212+16G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1586280	NM_002529.4(NTRK1):c.212+17C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2886228	NM_002529.4(NTRK1):c.212+19del	NTRK1	Deletion (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2728182	NM_002529.4(NTRK1):c.212+18G>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2426902	NM_002529.4(NTRK1):c.212+18G>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1635915	NM_002529.4(NTRK1):c.212+20dup	NTRK1	Duplication (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 2907256	NM_002529.4(NTRK1):c.213-18C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1573845	NM_002529.4(NTRK1):c.213-14C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2416965	NM_002529.4(NTRK1):c.213-13G>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 1641866	NM_002529.4(NTRK1):c.213-13G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 750061	NM_002529.4(NTRK1):c.213-9T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign

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