ClinVar for Gene (Select 57506) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293479	NM_020746.5(MAVS):c.1127C>T (p.Thr376Ile)	MAVS (T235I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293478	NM_020746.5(MAVS):c.589G>A (p.Glu197Lys)	MAVS (E197K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293477	NM_020746.5(MAVS):c.128G>C (p.Arg43Pro)	MAVS (R43P)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
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 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 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 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 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 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 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 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	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	MIR1292, MRPS26 +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 2652191	NM_020746.5(MAVS):c.1266C>T (p.Gly422=)	MAVS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
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 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 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 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 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	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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	ADAM33, ADISSP +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 782664	NM_020746.5(MAVS):c.1473C>T (p.Gly491=)	MAVS	Single nucleotide variant (synonymous variant +1 more)	not provided	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 780585	NM_020746.5(MAVS):c.292+6C>T	MAVS	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 725329	NM_020746.5(MAVS):c.1077G>A (p.Val359=)	MAVS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 718324	NM_020746.5(MAVS):c.292+3G>A	MAVS	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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)	AAR2, ABHD12 +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	ESF1, FAM110A +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
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 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 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
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 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 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 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 90