MSC-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	LOC130000438, LOC130000439 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	LOC130000640, LOC130000641 +245 more	Copy number gain	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 60373	GRCh38/hg38 8q13.3(chr8:71278615-71962825)x1	EYA1, LOC108004544 +16 more	Copy number loss	See cases	GPathogenic
Select item 3211096	NM_005098.4(MSC):c.515A>G (p.Tyr172Cys)	MSC, MSC-AS1 (Y172C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2306207	NM_005098.4(MSC):c.435G>C (p.Lys145Asn)	MSC, MSC-AS1 (K145N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607106	NM_005098.4(MSC):c.352G>T (p.Ala118Ser)	LOC130000587, MSC +1 more (A118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482381	NM_005098.4(MSC):c.304G>A (p.Ala102Thr)	LOC130000587, MSC +1 more (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211081	NM_005098.4(MSC):c.292A>G (p.Lys98Glu)	LOC130000587, MSC +1 more (K98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386583	NM_005098.4(MSC):c.259G>T (p.Ala87Ser)	LOC130000587, MSC +1 more (A87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409821	NM_005098.4(MSC):c.241G>A (p.Gly81Ser)	LOC130000587, MSC +1 more (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268338	NM_005098.4(MSC):c.226C>T (p.Arg76Cys)	LOC130000587, MSC +1 more (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658648	NM_005098.4(MSC):c.90C>G (p.Pro30=)	MSC, MSC-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2313901	NM_005098.4(MSC):c.88C>T (p.Pro30Ser)	MSC, MSC-AS1 (P30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275569	NM_005098.4(MSC):c.37G>C (p.Glu13Gln)	MSC, MSC-AS1 (E13Q)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1176560	NM_007332.3(TRPA1):c.3124A>G (p.Met1042Val)	MSC-AS1, TRPA1 (M1042V)	Single nucleotide variant (missense variant)	not provided +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 1342276	NM_007332.3(TRPA1):c.3053A>G (p.His1018Arg)	MSC-AS1, TRPA1 (H1018R)	Single nucleotide variant (missense variant)	TRPA1-related disorder +1 more	GBenign
Select item 3025034	NM_007332.3(TRPA1):c.3052-6C>T	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1711678	NM_007332.3(TRPA1):c.2986C>T (p.Arg996Cys)	MSC-AS1, TRPA1 (R996C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 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 788822	NM_007332.3(TRPA1):c.2937+6T>C	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
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 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 1701549	NM_007332.3(TRPA1):c.2886C>T (p.Gly962=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 1049155	NM_007332.3(TRPA1):c.2821C>A (p.Leu941Ile)	LOC126860417, MSC-AS1 +1 more (L941I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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
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 1301695	NM_007332.3(TRPA1):c.2520C>A (p.Tyr840Ter)	MSC-AS1, TRPA1 (Y840*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
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 3056632	NM_007332.3(TRPA1):c.2490G>A (p.Leu830=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 872425	NM_007332.3(TRPA1):c.2489T>C (p.Leu830Pro)	TRPA1, MSC-AS1 (L830P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1676107	NM_007332.3(TRPA1):c.2400del (p.Phe800fs)	MSC-AS1, TRPA1 (F800fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 2205866	NM_007332.3(TRPA1):c.2294C>T (p.Thr765Met)	MSC-AS1, TRPA1 (T765M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 773506	NM_007332.3(TRPA1):c.1965T>C (p.Tyr655=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 445446	NM_007332.3(TRPA1):c.1878G>A (p.Met626Ile)	MSC-AS1, TRPA1 (M626I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2499075	NM_007332.3(TRPA1):c.1860del (p.Lys620fs)	MSC-AS1, TRPA1 (K620fs)	Deletion (frameshift variant)	not provided	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 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 3055480	NM_007332.3(TRPA1):c.1812-3C>T	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	TRPA1-related disorder	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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