C0020074[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 79

	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 234386	NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)	LOC129931648, NTRK1 (R6W)	Single nucleotide variant (missense variant +1 more)	NTRK1-related condition +4 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 292871	NM_002529.4(NTRK1):c.157G>C (p.Asp53His)	NTRK1 (D53H)	Single nucleotide variant (missense variant +1 more)	NTRK1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 292872	NM_002529.4(NTRK1):c.212+10C>T	NTRK1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 875599	NM_002529.4(NTRK1):c.213-5C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 876594	NM_002529.4(NTRK1):c.265G>A (p.Gly89Ser)	NTRK1 (G59S +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 513835	NM_002529.4(NTRK1):c.279G>A (p.Leu93=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 292873	NM_002529.4(NTRK1):c.287+12G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GBenign/Likely benign
Select item 292874	NM_002529.4(NTRK1):c.288-8C>T	NTRK1	Single nucleotide variant (intron variant)	not specified +1 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 876596	NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly)	NTRK1 (D109G +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
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 292876	NM_002529.4(NTRK1):c.428+12C>A	NTRK1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 873751	NM_002529.4(NTRK1):c.468G>C (p.Leu156=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	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 insensitivity to pain with anhidrosis +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)	Hereditary insensitivity to pain with anhidrosis +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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 292878	NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)	NTRK1 (S160R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 873752	NM_002529.4(NTRK1):c.575-15G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 526742	NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala)	NTRK1 (G162A +1 more)	Single nucleotide variant (missense variant)	not provided +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 +3 more	GConflicting classifications of pathogenicity
Select item 385060	NM_002529.4(NTRK1):c.612G>A (p.Ser204=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 874705	NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn)	NTRK1 (D180N +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 378307	NM_002529.4(NTRK1):c.630C>T (p.Asp210=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 526731	NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp)	NTRK1 (R184W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 292882	NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp)	NTRK1 (R190W +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	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)	Hereditary insensitivity to pain with anhidrosis +2 more	GConflicting classifications of pathogenicity
Select item 875646	NM_002529.4(NTRK1):c.850+11G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 245652	NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)	NTRK1 (Q259K +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +5 more	GConflicting classifications of pathogenicity
Select item 875647	NM_002529.4(NTRK1):c.1005G>A (p.Pro335=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384787	NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +4 more	GConflicting classifications of pathogenicity
Select item 292883	NM_002529.4(NTRK1):c.1080G>A (p.Thr360=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 875648	NM_002529.4(NTRK1):c.1196-11T>C	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 292884	NM_002529.4(NTRK1):c.1236C>T (p.Asp412=)	NTRK1	Single nucleotide variant (synonymous variant)	NTRK1-related condition +3 more	GBenign/Likely benign
Select item 292885	NM_002529.4(NTRK1):c.1252-15C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 876645	NM_002529.4(NTRK1):c.1252-6C>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 292886	NM_002529.4(NTRK1):c.1331G>A (p.Arg444Gln)	NTRK1 (R408Q +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GBenign
Select item 876646	NM_002529.4(NTRK1):c.1448G>A (p.Gly483Asp)	NTRK1 (G447D +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 418887	NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)	NTRK1 (E456K +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GConflicting classifications of pathogenicity
Select item 292887	NM_002529.4(NTRK1):c.1522C>A (p.Arg508=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 292888	NM_002529.4(NTRK1):c.1632+4A>G	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 876647	NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val)	NTRK1 (A513V +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 292889	NM_002529.4(NTRK1):c.1674G>A (p.Gln558=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 873802	NM_002529.4(NTRK1):c.1717G>A (p.Val573Met)	NTRK1 (V537M +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 292890	NM_002529.4(NTRK1):c.1728C>T (p.Phe576=)	NTRK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 292891	NM_002529.4(NTRK1):c.1806-4del	NTRK1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 292892	NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)	NTRK1 (S567C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 37077	NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)	NTRK1 (H598Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 12308	NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)	NTRK1 (G607V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 292893	NM_002529.4(NTRK1):c.1860C>T (p.Gly620=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GBenign
Select item 138564	NM_002529.4(NTRK1):c.1887C>T (p.Ala629=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 380670	NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 874762	NM_002529.4(NTRK1):c.1917G>A (p.Val639=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 292894	NM_002529.4(NTRK1):c.1995G>A (p.Lys665=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 570430	NM_002529.4(NTRK1):c.2015G>A (p.Ser672Asn)	NTRK1 (S672N +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 874763	NM_002529.4(NTRK1):c.2035G>C (p.Asp679His)	NTRK1 (D643H +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 292895	NM_002529.4(NTRK1):c.2047-11G>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GBenign/Likely benign
Select item 706448	NM_002529.4(NTRK1):c.2047-8C>T	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 138566	NM_002529.4(NTRK1):c.2052A>G (p.Gly684=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 194476	NM_002529.4(NTRK1):c.2057G>A (p.Arg686His)	NTRK1 (R650H +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +3 more	GUncertain significance
Select item 292896	NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=)	NTRK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 292897	NM_002529.4(NTRK1):c.2202G>A (p.Thr734=)	NTRK1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 875698	NM_002529.4(NTRK1):c.2205+13C>A	NTRK1	Single nucleotide variant (intron variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 875699	NM_002529.4(NTRK1):c.2214C>T (p.Asp738=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis	GConflicting classifications of pathogenicity
Select item 875700	NM_002529.4(NTRK1):c.2248C>T (p.Arg750Cys)	NTRK1 (R750C +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 386229	NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)	NTRK1 (A722T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 292898	NM_002529.4(NTRK1):c.2299G>C (p.Glu767Gln)	NTRK1 (E761Q +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 235534	NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)	NTRK1 (R744Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 292899	NM_002529.4(NTRK1):c.2355C>T (p.Ala785=)	NTRK1	Single nucleotide variant (synonymous variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 876689	NM_002529.4(NTRK1):c.2371T>C (p.Tyr791His)	NTRK1 (Y791H +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 292900	NM_002529.4(NTRK1):c.*6C>T	NTRK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876690	NM_002529.4(NTRK1):c.*39C>T	NTRK1	Single nucleotide variant (3 prime UTR variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 292901	NM_002529.4(NTRK1):c.*56C>G	NTRK1	Single nucleotide variant (3 prime UTR variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 292902	NM_002529.4(NTRK1):c.*96G>A	NTRK1	Single nucleotide variant (3 prime UTR variant)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance

ClinVar

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Items: 79