12716[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	ABR, ABR-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	ALOX15, ANKFY1 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	OR1E2, OR1G1 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 148256	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	ASPA, CTNS +28 more	Copy number gain	See cases	GUncertain significance
Select item 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 583521	NC_000017.11:g.(?_3489235)_(3729555_?)del	LOC130059982, LOC130059983 +27 more	Deletion	not provided	GUncertain significance
Select item 150930	GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1	ASPA, CTNS +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 154546	GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1	CTNS, CTNS-AS1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 152573	GRCh38/hg38 17p13.2(chr17:3543809-3596080)x3	LOC126862463, LOC130059976 +4 more	Copy number gain	See cases	GLikely benign
Select item 57150	GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3	CTNS, CTNS-AS1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2471312	NM_080704.4(TRPV1):c.2509G>A (p.Gly837Arg)	TRPV1 (G837R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403031	NM_080704.4(TRPV1):c.2503G>A (p.Ala835Thr)	TRPV1 (A835T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183469	NM_080704.4(TRPV1):c.2477A>G (p.Asp826Gly)	TRPV1 (D826G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461610	NM_080704.4(TRPV1):c.2357G>A (p.Arg786Lys)	TRPV1 (R786K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726690	NM_080704.4(TRPV1):c.2347+8G>A	TRPV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2537405	NM_080704.4(TRPV1):c.2282A>C (p.Asn761Thr)	TRPV1 (N761T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183468	NM_080704.4(TRPV1):c.2171G>A (p.Gly724Asp)	TRPV1 (G724D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678638	NM_080704.4(TRPV1):c.2165G>A (p.Arg722His)	TRPV1 (R722H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance
Select item 3183466	NM_080704.4(TRPV1):c.2122G>T (p.Asp708Tyr)	TRPV1 (D708Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299284	NM_080704.4(TRPV1):c.2017A>C (p.Ile673Leu)	TRPV1 (I673L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728409	NM_080704.4(TRPV1):c.1873G>A (p.Asp625Asn)	TRPV1 (D625N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2510634	NM_080704.4(TRPV1):c.1865G>A (p.Arg622Lys)	TRPV1 (R622K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723409	NM_080704.4(TRPV1):c.1857T>G (p.Pro619=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2357808	NM_080704.4(TRPV1):c.1846T>C (p.Trp616Arg)	TRPV1 (W616R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183465	NM_080704.4(TRPV1):c.1838C>T (p.Ser613Leu)	TRPV1 (S613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778654	NM_080704.4(TRPV1):c.1836G>A (p.Thr612=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717635	NM_080704.4(TRPV1):c.1835C>T (p.Thr612Met)	TRPV1 (T612M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773586	NM_080704.4(TRPV1):c.1767C>G (p.Phe589Leu)	TRPV1 (F589L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3183464	NM_080704.4(TRPV1):c.1736G>A (p.Arg579His)	TRPV1 (R579H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183463	NM_080704.4(TRPV1):c.1699G>A (p.Val567Ile)	TRPV1 (V567I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183462	NM_080704.4(TRPV1):c.1667C>A (p.Thr556Asn)	TRPV1 (T556N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354558	NM_080704.4(TRPV1):c.1643G>A (p.Gly548Asp)	TRPV1 (G548D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774344	NM_080704.4(TRPV1):c.1513A>G (p.Thr505Ala)	TRPV1 (T505A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 743037	NM_080704.4(TRPV1):c.1420C>A (p.Arg474=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483115	NM_080704.4(TRPV1):c.1400A>C (p.Glu467Ala)	TRPV1 (E467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716598	NM_080704.4(TRPV1):c.1372G>A (p.Val458Met)	TRPV1 (V458M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2258159	NM_080704.4(TRPV1):c.1300A>G (p.Ile434Val)	TRPV1 (I434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407059	NM_080704.4(TRPV1):c.1290C>A (p.Phe430Leu)	TRPV1 (F430L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522443	NM_080704.4(TRPV1):c.1237A>G (p.Met413Val)	TRPV1 (M413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513923	NM_080704.4(TRPV1):c.1229G>A (p.Arg410His)	TRPV1 (R410H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494625	NM_080704.4(TRPV1):c.1209C>G (p.Ser403Arg)	TRPV1 (S403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456886	NM_080704.4(TRPV1):c.1165G>C (p.Asp389His)	TRPV1 (D389H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368356	NM_080704.4(TRPV1):c.1084G>A (p.Glu362Lys)	TRPV1 (E362K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509884	NM_080704.4(TRPV1):c.1033G>A (p.Gly345Arg)	TRPV1 (G345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183460	NM_080704.4(TRPV1):c.1019T>C (p.Leu340Pro)	TRPV1 (L340P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301850	NM_080704.4(TRPV1):c.993C>G (p.Asn331Lys)	TRPV1 (N331K)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2511043	NM_080704.4(TRPV1):c.967A>T (p.Thr323Ser)	TRPV1 (T323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281358	NM_080704.4(TRPV1):c.965C>T (p.Pro322Leu)	TRPV1 (P322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183474	NM_080704.4(TRPV1):c.925A>G (p.Met309Val)	TRPV1 (M309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523814	NM_080704.4(TRPV1):c.920C>T (p.Thr307Met)	TRPV1 (T307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407223	NM_080704.4(TRPV1):c.908C>T (p.Thr303Met)	TRPV1 (T303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744293	NM_080704.4(TRPV1):c.897G>A (p.Thr299=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277814	NM_080704.4(TRPV1):c.871G>A (p.Ala291Thr)	TRPV1 (A291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747754	NM_080704.4(TRPV1):c.863T>G (p.Val288Gly)	TRPV1 (V288G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2284677	NM_080704.4(TRPV1):c.848C>T (p.Ser283Leu)	TRPV1 (S283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461551	NM_080704.4(TRPV1):c.782A>G (p.Gln261Arg)	TRPV1 (Q261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544581	NM_080704.4(TRPV1):c.728G>T (p.Arg243Leu)	TRPV1 (R243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235041	NM_080704.4(TRPV1):c.691G>A (p.Ala231Thr)	TRPV1 (A231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288775	NM_080704.4(TRPV1):c.673G>A (p.Gly225Arg)	TRPV1 (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788461	NM_080704.4(TRPV1):c.655A>G (p.Thr219Ala)	TRPV1 (T219A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737807	NM_080704.4(TRPV1):c.624C>T (p.Ile208=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225873	NM_080704.4(TRPV1):c.593G>A (p.Ser198Asn)	TRPV1 (S198N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393748	NM_080704.4(TRPV1):c.587C>T (p.Thr196Met)	TRPV1 (T196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727349	NM_080704.4(TRPV1):c.576C>T (p.Asn192=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623297	NM_080704.4(TRPV1):c.567G>C (p.Glu189Asp)	TRPV1 (E189D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556115	NM_080704.4(TRPV1):c.520A>T (p.Ile174Phe)	TRPV1 (I174F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553162	NM_080704.4(TRPV1):c.500A>G (p.His167Arg)	TRPV1 (H167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183471	NM_080704.4(TRPV1):c.364G>A (p.Val122Ile)	TRPV1 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183470	NM_080704.4(TRPV1):c.352A>T (p.Ile118Phe)	TRPV1 (I118F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342772	NM_080704.4(TRPV1):c.319G>A (p.Glu107Lys)	TRPV1 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403458	NM_080704.4(TRPV1):c.307G>A (p.Ala103Thr)	TRPV1 (A103T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 788462	NM_080704.4(TRPV1):c.284+9G>A	TRPV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2211497	NM_080704.4(TRPV1):c.277G>A (p.Gly93Ser)	TRPV1 (G93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755331	NM_080704.4(TRPV1):c.261A>G (p.Pro87=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365925	NM_080704.4(TRPV1):c.244A>G (p.Ile82Val)	TRPV1 (I82V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238410	NM_080704.4(TRPV1):c.229A>T (p.Thr77Ser)	TRPV1 (T77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183467	NM_080704.4(TRPV1):c.215C>A (p.Ser72Tyr)	TRPV1 (S72Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791431	NM_080704.4(TRPV1):c.180G>A (p.Pro60=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2528346	NM_080704.4(TRPV1):c.152G>A (p.Gly51Glu)	TRPV1 (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183461	NM_080704.4(TRPV1):c.116A>G (p.Gln39Arg)	TRPV1 (Q39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388750	NM_080704.4(TRPV1):c.112C>A (p.Pro38Thr)	TRPV1 (P38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599567	NM_080704.4(TRPV1):c.70C>T (p.Pro24Ser)	TRPV1 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183473	NM_080704.4(TRPV1):c.67G>C (p.Asp23His)	TRPV1 (D23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 587555	NM_080704.4(TRPV1):c.63C>A (p.Cys21Ter)	TRPV1 (C21*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3183472	NM_080704.4(TRPV1):c.58A>G (p.Thr20Ala)	TRPV1 (T20A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356512	NM_080704.4(TRPV1):c.42C>A (p.Asp14Glu)	TRPV1 (D14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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