Related gene-specific medical variations for Gene (Select 8989) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3059579	NM_007332.3(TRPA1):c.1195-8del	MSC-AS1, TRPA1	Deletion (non-coding transcript variant +1 more)	TRPA1-related condition	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 condition	GLikely benign
Select item 3057268	NM_007332.3(TRPA1):c.2555+10G>A	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	TRPA1-related condition	GLikely benign
Select item 3056632	NM_007332.3(TRPA1):c.2490G>A (p.Leu830=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related condition	GBenign
Select item 3055480	NM_007332.3(TRPA1):c.1812-3C>T	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	TRPA1-related condition	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 condition	GLikely benign
Select item 3052127	NM_007332.3(TRPA1):c.2442G>A (p.Thr814=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related condition	GBenign
Select item 3047285	NM_007332.3(TRPA1):c.1917T>C (p.Asp639=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related condition	GLikely benign
Select item 3045549	NM_007332.3(TRPA1):c.2124C>T (p.Leu708=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related condition	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 condition	GLikely benign
Select item 3033490	NM_007332.3(TRPA1):c.2046G>A (p.Pro682=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related condition	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)	TRPA1-related condition +1 more	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 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 2603438	NM_007332.3(TRPA1):c.1859A>G (p.Lys620Arg)	MSC-AS1, TRPA1 (K620R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601996	NM_007332.3(TRPA1):c.1273G>A (p.Gly425Ser)	TRPA1, MSC-AS1 (G425S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588850	NM_007332.3(TRPA1):c.2932A>G (p.Met978Val)	MSC-AS1, TRPA1 (M978V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2568896	NM_007332.3(TRPA1):c.2519A>C (p.Tyr840Ser)	MSC-AS1, TRPA1 (Y840S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555376	NM_007332.3(TRPA1):c.2188C>T (p.Leu730Phe)	MSC-AS1, TRPA1 (L730F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554961	NM_007332.3(TRPA1):c.2020C>T (p.Pro674Ser)	MSC-AS1, TRPA1 (P674S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	TRPA1, MSC-AS1 (T472M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401272	NM_007332.3(TRPA1):c.1969G>A (p.Glu657Lys)	TRPA1, MSC-AS1 (E657K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2378253	NM_007332.3(TRPA1):c.1234G>A (p.Asp412Asn)	TRPA1, MSC-AS1 (D412N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2334577	NM_007332.3(TRPA1):c.1879A>G (p.Ile627Val)	MSC-AS1, TRPA1 (I627V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2313475	NM_007332.3(TRPA1):c.2401A>G (p.Met801Val)	TRPA1, MSC-AS1 (M801V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273487	NM_007332.3(TRPA1):c.2197A>G (p.Met733Val)	MSC-AS1, TRPA1 (M733V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262584	NM_007332.3(TRPA1):c.1562C>T (p.Ala521Val)	TRPA1, MSC-AS1 (A521V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249866	NM_007332.3(TRPA1):c.1860A>C (p.Lys620Asn)	TRPA1, MSC-AS1 (K620N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2207291	NM_007332.3(TRPA1):c.1968C>G (p.Ile656Met)	MSC-AS1, TRPA1 (I656M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205866	NM_007332.3(TRPA1):c.2294C>T (p.Thr765Met)	TRPA1, MSC-AS1 (T765M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879716	NM_007332.3(TRPA1):c.1257T>A (p.Tyr419Ter)	TRPA1, MSC-AS1 (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 1711678	NM_007332.3(TRPA1):c.2986C>T (p.Arg996Cys)	MSC-AS1, TRPA1 (R996C)	Single nucleotide variant (missense variant)	TRPA1-related condition +1 more	GBenign/Likely benign
Select item 1701549	NM_007332.3(TRPA1):c.2886C>T (p.Gly962=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related condition +1 more	GBenign/Likely benign
Select item 1676107	NM_007332.3(TRPA1):c.2400del (p.Phe800fs)	MSC-AS1, TRPA1 (F800fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1342283	NM_007332.3(TRPA1):c.1530-22T>C	MSC-AS1, TRPA1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial episodic pain syndrome with predominantly upper body involvement	GBenign
Select item 1342282	NM_007332.3(TRPA1):c.1630C>T (p.Leu544=)	MSC-AS1, TRPA1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial episodic pain syndrome with predominantly upper body involvement	GBenign
Select item 1342281	NM_007332.3(TRPA1):c.1644+15C>T	MSC-AS1, TRPA1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial episodic pain syndrome with predominantly upper body involvement	GBenign
Select item 1342280	NM_007332.3(TRPA1):c.1905+28C>T	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	Familial episodic pain syndrome with predominantly upper body involvement	GBenign
Select item 1342279	NM_007332.3(TRPA1):c.2869-6C>A	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	Familial episodic pain syndrome with predominantly upper body involvement	GBenign
Select item 1342278	NM_007332.3(TRPA1):c.2938-49T>G	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	Familial episodic pain syndrome with predominantly upper body involvement	GBenign
Select item 1342277	NM_007332.3(TRPA1):c.2938-24C>G	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	Familial episodic pain syndrome with predominantly upper body involvement	GBenign
Select item 1342276	NM_007332.3(TRPA1):c.3053A>G (p.His1018Arg)	MSC-AS1, TRPA1 (H1018R)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement +1 more	GBenign
Select item 1335715	NM_007332.3(TRPA1):c.1954C>T (p.Arg652Ter)	MSC-AS1, TRPA1 (R652*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 1335714	NM_007332.3(TRPA1):c.2044C>T (p.Pro682Ser)	MSC-AS1, TRPA1 (P682S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301695	NM_007332.3(TRPA1):c.2520C>A (p.Tyr840Ter)	MSC-AS1, TRPA1 (Y840*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1176560	NM_007332.3(TRPA1):c.3124A>G (p.Met1042Val)	MSC-AS1, TRPA1 (M1042V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1163025	NM_007332.3(TRPA1):c.3091_3095del (p.Gln1031fs)	MSC-AS1, TRPA1 (Q1031fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1050743	NM_007332.3(TRPA1):c.1372C>T (p.Arg458Cys)	MSC-AS1, TRPA1 (R458C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1049822	NM_007332.3(TRPA1):c.1952G>T (p.Cys651Phe)	MSC-AS1, TRPA1 (C651F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049155	NM_007332.3(TRPA1):c.2821C>A (p.Leu941Ile)	LOC126860417, MSC-AS1 +1 more (L941I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1013582	NM_007332.3(TRPA1):c.1539T>C (p.Asn513=)	MSC-AS1, TRPA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 930526	NM_007332.3(TRPA1):c.2366C>T (p.Ala789Val)	MSC-AS1, TRPA1 (A789V)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement	GUncertain significance
Select item 872425	NM_007332.3(TRPA1):c.2489T>C (p.Leu830Pro)	MSC-AS1, TRPA1 (L830P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788822	NM_007332.3(TRPA1):c.2937+6T>C	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773506	NM_007332.3(TRPA1):c.1965T>C (p.Tyr655=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 724681	NM_007332.3(TRPA1):c.2277A>G (p.Ser759=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 689623	NM_007332.3(TRPA1):c.2194C>G (p.Pro732Ala)	MSC-AS1, TRPA1 (P732A)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement	GUncertain significance
Select item 688377	GRCh37/hg19 8q13.3(chr8:72936501-72968323)x1	TRPA1	Copy number loss	not provided	GUncertain significance
Select item 685196	GRCh37/hg19 8q13.3(chr8:72928140-72968322)x1	TRPA1	Copy number loss	not provided	GUncertain significance
Select item 493480	NM_007332.3(TRPA1):c.145A>G (p.Asn49Asp)	TRPA1 (N49D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445446	NM_007332.3(TRPA1):c.1878G>A (p.Met626Ile)	MSC-AS1, TRPA1 (M626I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 39602	NM_007332.3(TRPA1):c.2564A>G (p.Asn855Ser)	LOC126860417, MSC-AS1 +1 more (N855S)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement	GPathogenic

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Items: 75