ClinVar for Gene (Select 8989) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336969	NM_007332.3(TRPA1):c.2978G>A (p.Trp993Ter)	MSC-AS1, TRPA1 (W993*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3329161	NM_007332.3(TRPA1):c.1088C>G (p.Ser363Cys)	TRPA1 (S363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329160	NM_007332.3(TRPA1):c.1147G>A (p.Val383Ile)	TRPA1 (V383I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329159	NM_007332.3(TRPA1):c.202C>T (p.His68Tyr)	TRPA1 (H68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329158	NM_007332.3(TRPA1):c.2558T>G (p.Phe853Cys)	LOC126860417, MSC-AS1 +1 more (F853C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329157	NM_007332.3(TRPA1):c.331A>G (p.Ile111Val)	TRPA1 (I111V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329156	NM_007332.3(TRPA1):c.1028G>A (p.Arg343His)	TRPA1 (R343H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329154	NM_007332.3(TRPA1):c.2036T>C (p.Ile679Thr)	MSC-AS1, TRPA1 (I679T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3256997	NM_007332.3(TRPA1):c.380G>A (p.Arg127Gln)	TRPA1 (R127Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3183209	NM_007332.3(TRPA1):c.65A>G (p.Tyr22Cys)	TRPA1 (Y22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183208	NM_007332.3(TRPA1):c.3350T>C (p.Leu1117Pro)	MSC-AS1, TRPA1 (L1117P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183207	NM_007332.3(TRPA1):c.3166T>C (p.Phe1056Leu)	MSC-AS1, TRPA1 (F1056L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183206	NM_007332.3(TRPA1):c.2899G>T (p.Val967Phe)	MSC-AS1, TRPA1 (V967F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183205	NM_007332.3(TRPA1):c.278A>G (p.Glu93Gly)	TRPA1 (E93G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183204	NM_007332.3(TRPA1):c.227T>A (p.Ile76Asn)	TRPA1 (I76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183203	NM_007332.3(TRPA1):c.2249G>A (p.Gly750Asp)	MSC-AS1, TRPA1 (G750D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183202	NM_007332.3(TRPA1):c.1988T>A (p.Leu663His)	MSC-AS1, TRPA1 (L663H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183201	NM_007332.3(TRPA1):c.1937C>G (p.Thr646Arg)	MSC-AS1, TRPA1 (T646R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183200	NM_007332.3(TRPA1):c.181G>A (p.Asp61Asn)	TRPA1 (D61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183199	NM_007332.3(TRPA1):c.1713T>G (p.Asn571Lys)	MSC-AS1, TRPA1 (N571K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3183198	NM_007332.3(TRPA1):c.1573G>A (p.Gly525Arg)	MSC-AS1, TRPA1 (G525R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3183197	NM_007332.3(TRPA1):c.1511A>G (p.Lys504Arg)	MSC-AS1, TRPA1 (K504R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3183196	NM_007332.3(TRPA1):c.1439T>A (p.Leu480His)	MSC-AS1, TRPA1 (L480H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3183195	NM_007332.3(TRPA1):c.1393C>A (p.Leu465Ile)	MSC-AS1, TRPA1 (L465I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3183194	NM_007332.3(TRPA1):c.1144A>G (p.Thr382Ala)	TRPA1 (T382A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067888	NM_007332.3(TRPA1):c.2074A>C (p.Asn692His)	MSC-AS1, TRPA1 (N692H)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3060717	NM_007332.3(TRPA1):c.535G>A (p.Glu179Lys)	TRPA1 (E179K)	Single nucleotide variant (missense variant)	TRPA1-related disorder	GBenign
Select item 3059579	NM_007332.3(TRPA1):c.1195-8del	MSC-AS1, TRPA1	Deletion (non-coding transcript variant +1 more)	TRPA1-related disorder	GBenign
Select item 3058871	NM_007332.3(TRPA1):c.384C>T (p.Asn128=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 3058634	NM_007332.3(TRPA1):c.2592G>A (p.Glu864=)	LOC126860417, MSC-AS1 +1 more	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3057268	NM_007332.3(TRPA1):c.2555+10G>A	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	TRPA1-related disorder	GLikely benign
Select item 3056632	NM_007332.3(TRPA1):c.2490G>A (p.Leu830=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 3055480	NM_007332.3(TRPA1):c.1812-3C>T	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	TRPA1-related disorder	GBenign
Select item 3054882	NM_007332.3(TRPA1):c.2814T>C (p.Phe938=)	LOC126860417, MSC-AS1 +1 more	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3052127	NM_007332.3(TRPA1):c.2442G>A (p.Thr814=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 3051724	NM_007332.3(TRPA1):c.180C>T (p.Asp60=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3051559	NM_007332.3(TRPA1):c.315T>C (p.Ala105=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3049590	NM_007332.3(TRPA1):c.682A>C (p.Arg228=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 3048313	NM_007332.3(TRPA1):c.1094-3dup	TRPA1	Duplication (intron variant)	TRPA1-related disorder	GLikely benign
Select item 3047285	NM_007332.3(TRPA1):c.1917T>C (p.Asp639=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3045638	NM_007332.3(TRPA1):c.339C>T (p.Ser113=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3045549	NM_007332.3(TRPA1):c.2124C>T (p.Leu708=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3045291	NM_007332.3(TRPA1):c.-9G>A	TRPA1	Single nucleotide variant (5 prime UTR variant)	TRPA1-related disorder	GLikely benign
Select item 3044169	NM_007332.3(TRPA1):c.1434T>G (p.Gly478=)	MSC-AS1, TRPA1	Single nucleotide variant (non-coding transcript variant +1 more)	TRPA1-related disorder	GLikely benign
Select item 3033490	NM_007332.3(TRPA1):c.2046G>A (p.Pro682=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3026819	NM_007332.3(TRPA1):c.1729A>G (p.Asn577Asp)	MSC-AS1, TRPA1 (N577D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3025034	NM_007332.3(TRPA1):c.3052-6C>T	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2690279	NM_007332.3(TRPA1):c.2581G>T (p.Val861Phe)	LOC126860417, MSC-AS1 +1 more (V861F)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement	GUncertain significance
Select item 2673152	NM_007332.3(TRPA1):c.1694C>T (p.Ala565Val)	MSC-AS1, TRPA1 (A565V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2673151	NM_007332.3(TRPA1):c.2755C>T (p.Arg919Ter)	LOC126860417, MSC-AS1 +1 more (R919*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2658650	NM_007332.3(TRPA1):c.970C>T (p.Leu324=)	TRPA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2658649	NM_007332.3(TRPA1):c.1476T>C (p.Asn492=)	MSC-AS1, TRPA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2620671	NM_007332.3(TRPA1):c.626G>T (p.Gly209Val)	TRPA1 (G209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604760	NM_007332.3(TRPA1):c.394A>G (p.Met132Val)	TRPA1 (M132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603438	NM_007332.3(TRPA1):c.1859A>G (p.Lys620Arg)	MSC-AS1, TRPA1 (K620R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601996	NM_007332.3(TRPA1):c.1273G>A (p.Gly425Ser)	MSC-AS1, TRPA1 (G425S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2588850	NM_007332.3(TRPA1):c.2932A>G (p.Met978Val)	MSC-AS1, TRPA1 (M978V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571603	NM_007332.3(TRPA1):c.2065A>G (p.Met689Val)	MSC-AS1, TRPA1 (M689V)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement	GUncertain significance
Select item 2571319	NC_000008.11:g.72089968A>G	TRPA1	Single nucleotide variant	not provided	GLikely benign
Select item 2568896	NM_007332.3(TRPA1):c.2519A>C (p.Tyr840Ser)	MSC-AS1, TRPA1 (Y840S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555376	NM_007332.3(TRPA1):c.2188C>T (p.Leu730Phe)	MSC-AS1, TRPA1 (L730F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554961	NM_007332.3(TRPA1):c.2020C>T (p.Pro674Ser)	MSC-AS1, TRPA1 (P674S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544972	NM_007332.3(TRPA1):c.587A>G (p.Lys196Arg)	TRPA1 (K196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529203	NM_007332.3(TRPA1):c.1438C>T (p.Leu480Phe)	MSC-AS1, TRPA1 (L480F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2499075	NM_007332.3(TRPA1):c.1860del (p.Lys620fs)	MSC-AS1, TRPA1 (K620fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2495679	NM_007332.3(TRPA1):c.1909C>A (p.Leu637Ile)	MSC-AS1, TRPA1 (L637I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484360	NM_007332.3(TRPA1):c.595T>C (p.Cys199Arg)	TRPA1 (C199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463994	NM_007332.3(TRPA1):c.58G>A (p.Val20Ile)	TRPA1 (V20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2437337	NM_007332.3(TRPA1):c.1743del (p.Ser582fs)	MSC-AS1, TRPA1 (S582fs)	Deletion (non-coding transcript variant +1 more)	Familial episodic pain syndrome with predominantly upper body involvement	GUncertain significance
Select item 2410321	NM_007332.3(TRPA1):c.1415C>T (p.Thr472Met)	MSC-AS1, TRPA1 (T472M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2401272	NM_007332.3(TRPA1):c.1969G>A (p.Glu657Lys)	MSC-AS1, TRPA1 (E657K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395348	NM_007332.3(TRPA1):c.1405A>G (p.Ile469Val)	MSC-AS1, TRPA1 (I469V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2381340	NM_007332.3(TRPA1):c.1100A>G (p.Gln367Arg)	TRPA1 (Q367R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378253	NM_007332.3(TRPA1):c.1234G>A (p.Asp412Asn)	MSC-AS1, TRPA1 (D412N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2367641	NM_007332.3(TRPA1):c.123A>C (p.Glu41Asp)	TRPA1 (E41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349639	NM_007332.3(TRPA1):c.1404C>G (p.Asp468Glu)	MSC-AS1, TRPA1 (D468E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2334577	NM_007332.3(TRPA1):c.1879A>G (p.Ile627Val)	MSC-AS1, TRPA1 (I627V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328065	NM_007332.3(TRPA1):c.563G>C (p.Gly188Ala)	TRPA1 (G188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327994	NM_007332.3(TRPA1):c.1187T>G (p.Phe396Cys)	TRPA1 (F396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316546	NM_007332.3(TRPA1):c.1190T>G (p.Met397Arg)	TRPA1 (M397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313475	NM_007332.3(TRPA1):c.2401A>G (p.Met801Val)	MSC-AS1, TRPA1 (M801V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292304	NM_007332.3(TRPA1):c.818G>A (p.Cys273Tyr)	TRPA1 (C273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273487	NM_007332.3(TRPA1):c.2197A>G (p.Met733Val)	MSC-AS1, TRPA1 (M733V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262584	NM_007332.3(TRPA1):c.1562C>T (p.Ala521Val)	MSC-AS1, TRPA1 (A521V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2260924	NM_007332.3(TRPA1):c.248C>A (p.Thr83Asn)	TRPA1 (T83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255801	NM_007332.3(TRPA1):c.512T>C (p.Ile171Thr)	TRPA1 (I171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255471	NM_007332.3(TRPA1):c.125G>A (p.Gly42Glu)	TRPA1 (G42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249866	NM_007332.3(TRPA1):c.1860A>C (p.Lys620Asn)	MSC-AS1, TRPA1 (K620N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224419	NM_007332.3(TRPA1):c.2750A>G (p.Asn917Ser)	LOC126860417, MSC-AS1 +1 more (N917S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219745	NM_007332.3(TRPA1):c.878C>T (p.Ser293Leu)	TRPA1 (S293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212038	NM_007332.3(TRPA1):c.365C>T (p.Ala122Val)	TRPA1 (A122V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2207291	NM_007332.3(TRPA1):c.1968C>G (p.Ile656Met)	MSC-AS1, TRPA1 (I656M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205866	NM_007332.3(TRPA1):c.2294C>T (p.Thr765Met)	MSC-AS1, TRPA1 (T765M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1879716	NM_007332.3(TRPA1):c.1257T>A (p.Tyr419Ter)	MSC-AS1, TRPA1 (Y419*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1808755	GRCh37/hg19 8q13.3(chr8:72857164-73158690)x3	TRPA1	Copy number gain	not provided	GUncertain significance
Select item 1808374	GRCh37/hg19 8q13.3(chr8:72407115-73152550)x3	MSC, TRPA1	Copy number gain	not provided	GUncertain significance
Select item 1711678	NM_007332.3(TRPA1):c.2986C>T (p.Arg996Cys)	MSC-AS1, TRPA1 (R996C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic

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