ClinVar for MedGen (Select 6915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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
Select item 2920068	NM_002529.4(NTRK1):c.718-18C>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2918963	NM_002529.4(NTRK1):c.1377G>A (p.Glu459=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2917216	NM_002529.4(NTRK1):c.1806-11C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GBenign
Select item 2916896	NM_002529.4(NTRK1):c.2046+19C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2915213	NM_002529.4(NTRK1):c.2340G>A (p.Arg780=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2914673	NM_002529.4(NTRK1):c.851-15C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2912709	NM_002529.4(NTRK1):c.783G>A (p.Lys261=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2911739	NM_002529.4(NTRK1):c.288-16C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2911575	NM_002529.4(NTRK1):c.1633-14C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2908988	NM_002529.4(NTRK1):c.1632+18G>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2908220	NM_002529.4(NTRK1):c.1081C>T (p.Leu361=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2907845	NM_002529.4(NTRK1):c.1805+11C>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2907691	NM_002529.4(NTRK1):c.1806-15T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 2906420	NM_002529.4(NTRK1):c.1501+8G>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2906161	NM_002529.4(NTRK1):c.2056C>T (p.Arg686Cys)	NTRK1 (R680C +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 2905556	NM_002529.4(NTRK1):c.2046+20A>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2904622	NM_002529.4(NTRK1):c.2047-19C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2904060	NM_002529.4(NTRK1):c.2047-1G>A	NTRK1	Single nucleotide variant (splice acceptor variant)	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 2903192	NM_002529.4(NTRK1):c.1805+13G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2902570	NM_002529.4(NTRK1):c.2206-13C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2901597	NM_002529.4(NTRK1):c.1743G>A (p.Glu581=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2901293	NM_002529.4(NTRK1):c.428+14C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2900164	NM_002529.4(NTRK1):c.851-16T>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2899911	NM_002529.4(NTRK1):c.851-16T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2897325	NM_002529.4(NTRK1):c.850+17G>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2895566	NM_002529.4(NTRK1):c.906C>A (p.Pro302=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2889375	NM_002529.4(NTRK1):c.850+15C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2887485	NM_002529.4(NTRK1):c.1095C>T (p.Asn365=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2887079	NM_002529.4(NTRK1):c.2205+18G>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2886687	NM_002529.4(NTRK1):c.1252-14C>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 2883283	NM_002529.4(NTRK1):c.1659T>C (p.Ala553=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2881792	NM_002529.4(NTRK1):c.612G>C (p.Ser204=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2881082	NM_002529.4(NTRK1):c.438G>T (p.Ser146=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2880632	NM_002529.4(NTRK1):c.717+8G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2879197	NM_002529.4(NTRK1):c.429-9G>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2878152	NM_002529.4(NTRK1):c.2163C>T (p.Phe721=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2878010	NM_002529.4(NTRK1):c.717+14C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2876499	NM_002529.4(NTRK1):c.780G>A (p.Arg260=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2875770	NM_002529.4(NTRK1):c.718-18CT[2]	NTRK1	Microsatellite (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2874731	NM_002529.4(NTRK1):c.1502-15T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
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 2869617	NM_002529.4(NTRK1):c.428+8G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2867029	NM_002529.4(NTRK1):c.2205+19T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2865840	NM_002529.4(NTRK1):c.1548G>A (p.Leu516=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2864463	NM_002529.4(NTRK1):c.851-798_851-794delinsTCAGG	NTRK1	Indel (intron variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 2863516	NM_002529.4(NTRK1):c.1323A>G (p.Lys441=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GLikely benign
Select item 2863396	NM_002529.4(NTRK1):c.1727_1735del (p.Phe576_Val578del)	NTRK1	Deletion (inframe_deletion +1 more)	Hereditary insensitivity to pain with anhidrosis	GPathogenic

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