MAVS[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 2243107	NM_020746.5(MAVS):c.40C>T (p.Arg14Cys)	MAVS (R14C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2218084	NM_020746.5(MAVS):c.41G>A (p.Arg14His)	MAVS (R14H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 782663	NM_020746.5(MAVS):c.198C>T (p.Pro66=)	MAVS	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 2224468	NM_020746.5(MAVS):c.253G>A (p.Ala85Thr)	MAVS (A85T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2250638	NM_020746.5(MAVS):c.254C>T (p.Ala85Val)	MAVS (A85V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3124002	NM_020746.5(MAVS):c.278A>G (p.Gln93Arg)	MAVS (Q93R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2392574	NM_020746.5(MAVS):c.290C>T (p.Pro97Leu)	MAVS (P97L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 718324	NM_020746.5(MAVS):c.292+3G>A	MAVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780585	NM_020746.5(MAVS):c.292+6C>T	MAVS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2305267	NM_020746.5(MAVS):c.305G>A (p.Arg102His)	MAVS (R102H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609714	NM_020746.5(MAVS):c.421C>G (p.Pro141Ala)	MAVS (P141A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527457	NM_020746.5(MAVS):c.596A>G (p.Asp199Gly)	MAVS (D199G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408991	NM_020746.5(MAVS):c.653G>A (p.Arg218His)	MAVS (R218H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403677	NM_020746.5(MAVS):c.689T>C (p.Leu230Pro)	MAVS (L89P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478587	NM_020746.5(MAVS):c.749C>T (p.Thr250Ile)	MAVS (T250I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124004	NM_020746.5(MAVS):c.773C>T (p.Ser258Phe)	MAVS (S117F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323545	NM_020746.5(MAVS):c.892G>A (p.Val298Met)	MAVS (V157M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123996	NM_020746.5(MAVS):c.1022T>C (p.Leu341Pro)	MAVS (L341P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275283	NM_020746.5(MAVS):c.1067C>G (p.Ala356Gly)	MAVS (A215G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725329	NM_020746.5(MAVS):c.1077G>A (p.Val359=)	MAVS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 585038	NM_020746.5(MAVS):c.1189G>A (p.Ala397Thr)	MAVS (A397T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 769074	NM_020746.5(MAVS):c.1237G>A (p.Gly413Ser)	MAVS (G413S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2652191	NM_020746.5(MAVS):c.1266C>T (p.Gly422=)	MAVS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2568819	NM_020746.5(MAVS):c.1267G>A (p.Val423Met)	MAVS (V282M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3123997	NM_020746.5(MAVS):c.1292C>T (p.Pro431Leu)	MAVS (P431L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252946	NM_020746.5(MAVS):c.1298C>T (p.Ser433Leu)	MAVS (S292L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264074	NM_020746.5(MAVS):c.1301G>T (p.Gly434Val)	MAVS (G293V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123998	NM_020746.5(MAVS):c.1304G>C (p.Cys435Ser)	MAVS (C294S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273615	NM_020746.5(MAVS):c.1352C>T (p.Pro451Leu)	MAVS (P310L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123999	NM_020746.5(MAVS):c.1409T>C (p.Val470Ala)	MAVS (V329A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602411	NM_020746.5(MAVS):c.1428C>G (p.Ile476Met)	MAVS (I335M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782664	NM_020746.5(MAVS):c.1473C>T (p.Gly491=)	MAVS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 771779	NM_020746.5(MAVS):c.1491C>T (p.Ala497=)	MAVS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2547039	NM_020746.5(MAVS):c.1557G>C (p.Gln519His)	MAVS (Q519H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612755	NM_020746.5(MAVS):c.1568C>T (p.Thr523Ile)	MAVS (T523I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405789	NM_020746.5(MAVS):c.1582G>C (p.Val528Leu)	MAVS (V528L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593552	NM_020746.5(MAVS):c.1597G>A (p.Val533Met)	MAVS (V533M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383281	NM_020746.5(MAVS):c.1606C>T (p.Arg536Trp)	MAVS (R395W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124001	NM_020746.5(MAVS):c.1613G>A (p.Arg538His)	MAVS (R538H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	CDS2, CPXM1 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADISSP, AP5S1 +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1054510	NC_000020.10:g.(?_3190178)_(3903961_?)dup	DNAAF9, GFRA4 +14 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 979728	GRCh37/hg19 20p13(chr20:3116478-4199486)x3	FASTKD5, CDC25B +20 more	Copy number gain	not provided	GUncertain significance
Select item 979727	GRCh37/hg19 20p13(chr20:3092739-4939933)x3	CDC25B, ADAM33 +25 more	Copy number gain	not provided	GUncertain significance
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 973562	NC_000020.11:g.3863511_3918336del	MAVS, MIR103A2 +1 more	Deletion	Pigmentary pallidal degeneration	GPathogenic
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 687749	GRCh37/hg19 20p13(chr20:3844173-4031301)x3	MAVS, MIR103A2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687503	GRCh37/hg19 20p13(chr20:3838806-3898983)x1	MAVS, MIR103A2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685639	GRCh37/hg19 20p13(chr20:3796763-3896539)x3	AP5S1, MAVS +1 more	Copy number gain	not provided	GUncertain significance
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, ADISSP +26 more	Copy number loss	See cases	GUncertain significance
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442430	GRCh37/hg19 20p13(chr20:3838806-4649690)x3	ADRA1D, MAVS +4 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 85