ClinVar for Gene (Select 7442) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069077	NC_000017.10:g.(?_3511533)_(3539545_?)del	SHPK, TRPV1	Deletion	not specified	GUncertain significance
Select item 3063514	GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1	ASPA, OR1E1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063494	GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3	ASPA, LOC100288728 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3063484	GRCh37/hg19 17p13.2(chr17:3489513-3557205)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063482	GRCh37/hg19 17p13.2(chr17:3489513-3557441)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GPathogenic
Select item 3063479	GRCh37/hg19 17p13.2(chr17:3505568-3557452)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GPathogenic
Select item 3063478	GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GPathogenic
Select item 3063476	GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GPathogenic
Select item 2685594	GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1	ASPA, CLUH +16 more	Copy number loss	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2623297	NM_080704.4(TRPV1):c.567G>C (p.Glu189Asp)	TRPV1 (E189D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599567	NM_080704.4(TRPV1):c.70C>T (p.Pro24Ser)	TRPV1 (P24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2556115	NM_080704.4(TRPV1):c.520A>T (p.Ile174Phe)	TRPV1 (I174F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553162	NM_080704.4(TRPV1):c.500A>G (p.His167Arg)	TRPV1 (H167R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544581	NM_080704.4(TRPV1):c.728G>T (p.Arg243Leu)	TRPV1 (R243L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537405	NM_080704.4(TRPV1):c.2282A>C (p.Asn761Thr)	TRPV1 (N761T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528346	NM_080704.4(TRPV1):c.152G>A (p.Gly51Glu)	TRPV1 (G51E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523814	NM_080704.4(TRPV1):c.920C>T (p.Thr307Met)	TRPV1 (T307M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522443	NM_080704.4(TRPV1):c.1237A>G (p.Met413Val)	TRPV1 (M413V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513923	NM_080704.4(TRPV1):c.1229G>A (p.Arg410His)	TRPV1 (R410H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511043	NM_080704.4(TRPV1):c.967A>T (p.Thr323Ser)	TRPV1 (T323S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510634	NM_080704.4(TRPV1):c.1865G>A (p.Arg622Lys)	TRPV1 (R622K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509884	NM_080704.4(TRPV1):c.1033G>A (p.Gly345Arg)	TRPV1 (G345R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494625	NM_080704.4(TRPV1):c.1209C>G (p.Ser403Arg)	TRPV1 (S403R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483115	NM_080704.4(TRPV1):c.1400A>C (p.Glu467Ala)	TRPV1 (E467A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471312	NM_080704.4(TRPV1):c.2509G>A (p.Gly837Arg)	TRPV1 (G837R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461610	NM_080704.4(TRPV1):c.2357G>A (p.Arg786Lys)	TRPV1 (R786K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461551	NM_080704.4(TRPV1):c.782A>G (p.Gln261Arg)	TRPV1 (Q261R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456886	NM_080704.4(TRPV1):c.1165G>C (p.Asp389His)	TRPV1 (D389H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425848	NC_000017.10:g.(?_3447853)_(3571820_?)dup	CTNS, SHPK +3 more	Duplication	not provided	GUncertain significance
Select item 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 2407223	NM_080704.4(TRPV1):c.908C>T (p.Thr303Met)	TRPV1 (T303M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407059	NM_080704.4(TRPV1):c.1290C>A (p.Phe430Leu)	TRPV1 (F430L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403458	NM_080704.4(TRPV1):c.307G>A (p.Ala103Thr)	TRPV1 (A103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2403031	NM_080704.4(TRPV1):c.2503G>A (p.Ala835Thr)	TRPV1 (A835T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393748	NM_080704.4(TRPV1):c.587C>T (p.Thr196Met)	TRPV1 (T196M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388750	NM_080704.4(TRPV1):c.112C>A (p.Pro38Thr)	TRPV1 (P38T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368356	NM_080704.4(TRPV1):c.1084G>A (p.Glu362Lys)	TRPV1 (E362K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365925	NM_080704.4(TRPV1):c.244A>G (p.Ile82Val)	TRPV1 (I82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2357808	NM_080704.4(TRPV1):c.1846T>C (p.Trp616Arg)	TRPV1 (W616R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356512	NM_080704.4(TRPV1):c.42C>A (p.Asp14Glu)	TRPV1 (D14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354558	NM_080704.4(TRPV1):c.1643G>A (p.Gly548Asp)	TRPV1 (G548D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342772	NM_080704.4(TRPV1):c.319G>A (p.Glu107Lys)	TRPV1 (E107K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308477	NM_080704.4(TRPV1):c.23A>C (p.Asp8Ala)	TRPV1 (D8A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299284	NM_080704.4(TRPV1):c.2017A>C (p.Ile673Leu)	TRPV1 (I673L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288775	NM_080704.4(TRPV1):c.673G>A (p.Gly225Arg)	TRPV1 (G225R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284677	NM_080704.4(TRPV1):c.848C>T (p.Ser283Leu)	TRPV1 (S283L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281358	NM_080704.4(TRPV1):c.965C>T (p.Pro322Leu)	TRPV1 (P322L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277814	NM_080704.4(TRPV1):c.871G>A (p.Ala291Thr)	TRPV1 (A291T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258159	NM_080704.4(TRPV1):c.1300A>G (p.Ile434Val)	TRPV1 (I434V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238410	NM_080704.4(TRPV1):c.229A>T (p.Thr77Ser)	TRPV1 (T77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235041	NM_080704.4(TRPV1):c.691G>A (p.Ala231Thr)	TRPV1 (A231T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225873	NM_080704.4(TRPV1):c.593G>A (p.Ser198Asn)	TRPV1 (S198N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211497	NM_080704.4(TRPV1):c.277G>A (p.Gly93Ser)	TRPV1 (G93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809346	GRCh37/hg19 17p13.2(chr17:3392984-3631198)x1	ASPA, CTNS +8 more	Copy number loss	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
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 1458479	NC_000017.10:g.(?_3504346)_(3561464_?)del	CTNS, SHPK +1 more	Deletion	Inborn genetic diseases +2 more	GPathogenic
Select item 1449340	NC_000017.10:g.(?_3392509)_(3571820_?)del	ASPA, CTNS +4 more	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 1403973	NC_000017.10:g.(?_2541583)_(3819519_?)del	OR1E2, OR1G1 +26 more	Deletion	not provided	GPathogenic
Select item 1340916	GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3	ASPA, CTNS +21 more	Copy number gain	not provided	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 1180511	GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1	ASPA, CLUH +25 more	Copy number loss	not provided	GPathogenic
Select item 1069678	NC_000017.10:g.(?_3392519)_(3564038_?)del	ASPA, CTNS +3 more	Deletion	Inborn genetic diseases +3 more	GPathogenic
Select item 915963	GRCh37/hg19 17p13.2(chr17:3394299-3632836)	ASPA, CTNS +8 more	Copy number loss	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 815895	GRCh37/hg19 17p13.2(chr17:3431968-3518264)x1	TRPV3, SHPK +1 more	Copy number loss	not provided	GUncertain significance
Select item 815894	GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1	HASPIN, CTNS +8 more	Copy number loss	not provided	GUncertain significance
Select item 815893	GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3	OR3A2, P2RX5 +14 more	Copy number gain	not provided	GLikely benign
Select item 791431	NM_080704.4(TRPV1):c.180G>A (p.Pro60=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788462	NM_080704.4(TRPV1):c.284+9G>A	TRPV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788461	NM_080704.4(TRPV1):c.655A>G (p.Thr219Ala)	TRPV1 (T219A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778654	NM_080704.4(TRPV1):c.1836G>A (p.Thr612=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774344	NM_080704.4(TRPV1):c.1513A>G (p.Thr505Ala)	TRPV1 (T505A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 755331	NM_080704.4(TRPV1):c.261A>G (p.Pro87=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747754	NM_080704.4(TRPV1):c.863T>G (p.Val288Gly)	TRPV1 (V288G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 744293	NM_080704.4(TRPV1):c.897G>A (p.Thr299=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743037	NM_080704.4(TRPV1):c.1420C>A (p.Arg474=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737807	NM_080704.4(TRPV1):c.624C>T (p.Ile208=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 727349	NM_080704.4(TRPV1):c.576C>T (p.Asn192=)	TRPV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726690	NM_080704.4(TRPV1):c.2347+8G>A	TRPV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723409	NM_080704.4(TRPV1):c.1857T>G (p.Pro619=)	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 716598	NM_080704.4(TRPV1):c.1372G>A (p.Val458Met)	TRPV1 (V458M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 689298	GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 689234	GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 689154	GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 689076	GRCh37/hg19 17p13.2(chr17:3505567-3562748)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 688746	GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 688556	GRCh37/hg19 17p13.2(chr17:3505567-3562685)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 688206	GRCh37/hg19 17p13.2(chr17:3405774-3640694)x1	CTNS, EMC6 +7 more	Copy number loss	not provided	GUncertain significance
Select item 688152	GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 687982	GRCh37/hg19 17p13.2(chr17:3505567-3562685)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 687869	GRCh37/hg19 17p13.2(chr17:3505975-3557440)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic
Select item 687856	GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1	CTNS, SHPK +1 more	Copy number loss	not provided	GPathogenic

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