"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MSC-AS1"[g - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1176560	NM_007332.3(TRPA1):c.3124A>G (p.Met1042Val)	MSC-AS1, TRPA1 (M1042V)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 788822	NM_007332.3(TRPA1):c.2937+6T>C	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1676107	NM_007332.3(TRPA1):c.2400del (p.Phe800fs)	MSC-AS1, TRPA1 (F800fs)	Deletion (frameshift variant)	not provided	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 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 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 1335715	NM_007332.3(TRPA1):c.1954C>T (p.Arg652Ter)	MSC-AS1, TRPA1 (R652*)	Single nucleotide variant (nonsense)	not provided	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	GBenign/Likely 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 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 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 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 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 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 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

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Items: 21