ClinVar for Gene (Select 10528) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300374	NM_006392.4(NOP56):c.1193G>A (p.Arg398Gln)	NOP56 (R398Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300373	NM_006392.4(NOP56):c.644A>G (p.Gln215Arg)	NOP56 (Q215R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300372	NM_006392.4(NOP56):c.1556G>A (p.Ser519Asn)	NOP56 (S519N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300371	NM_006392.4(NOP56):c.707T>C (p.Met236Thr)	NOP56 (M236T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257029	NM_006392.4(NOP56):c.1368A>G (p.Ala456=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3201254	NM_006392.4(NOP56):c.606G>T (p.Lys202Asn)	NOP56 (K202N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201253	NM_006392.4(NOP56):c.377G>A (p.Arg126His)	NOP56 (R126H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201252	NM_006392.4(NOP56):c.175G>C (p.Val59Leu)	NOP56 (V59L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201251	NM_006392.4(NOP56):c.1745A>G (p.Lys582Arg)	NOP56 (K582R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201250	NM_006392.4(NOP56):c.1537T>C (p.Ser513Pro)	NOP56 (S513P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201249	NM_006392.4(NOP56):c.1076G>A (p.Arg359Gln)	NOP56 (R359Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067245	NM_006392.4(NOP56):c.1065C>T (p.Thr355=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3047363	NM_006392.4(NOP56):c.1746GAA[2] (p.Lys586del)	NOP56 (K586del)	Microsatellite (inframe deletion +1 more)	NOP56-related disorder	GLikely benign
Select item 3046674	NM_006392.4(NOP56):c.1379C>T (p.Ala460Val)	NOP56 (A460V)	Single nucleotide variant (missense variant +1 more)	NOP56-related disorder	GLikely benign
Select item 3046241	NM_006392.4(NOP56):c.306C>T (p.Ala102=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	NOP56-related disorder	GLikely benign
Select item 3044885	NM_006392.4(NOP56):c.371-5_371-3del	NOP56	Microsatellite (intron variant)	NOP56-related disorder +1 more	GBenign/Likely benign
Select item 3043547	NM_006392.4(NOP56):c.1098C>T (p.Gly366=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	NOP56-related disorder	GLikely benign
Select item 3042576	NM_006392.4(NOP56):c.1575C>T (p.Thr525=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	NOP56-related disorder	GBenign
Select item 3041846	NM_006392.4(NOP56):c.1367C>T (p.Ala456Val)	NOP56 (A456V)	Single nucleotide variant (missense variant +1 more)	NOP56-related disorder	GBenign
Select item 3037904	NM_006392.4(NOP56):c.1572G>A (p.Glu524=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	NOP56-related disorder	GBenign
Select item 3037867	NM_006392.4(NOP56):c.480T>C (p.Asn160=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	NOP56-related disorder	GBenign
Select item 3036190	NM_006392.4(NOP56):c.1419+3C>T	NOP56	Single nucleotide variant (intron variant)	NOP56-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	RAD21L1, RALGAPA2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	SIRPB2, SIRPD +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 2652153	NM_006392.4(NOP56):c.1777G>T (p.Glu593Ter)	NOP56 (E593*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2652152	NM_006392.4(NOP56):c.1380G>A (p.Ala460=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652151	NM_006392.4(NOP56):c.614A>G (p.Asn205Ser)	NOP56 (N205S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2633222	NM_006392.4(NOP56):c.1415G>A (p.Cys472Tyr)	NOP56 (C472Y)	Single nucleotide variant (missense variant +1 more)	NOP56-related disorder	GUncertain significance
Select item 2619811	NM_006392.4(NOP56):c.1147G>A (p.Asp383Asn)	NOP56 (D383N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612709	NM_006392.4(NOP56):c.1561G>C (p.Asp521His)	NOP56 (D521H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605172	NM_006392.4(NOP56):c.1228A>G (p.Thr410Ala)	NOP56 (T410A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2587983	NM_006392.4(NOP56):c.809G>A (p.Arg270His)	NOP56 (R270H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 2554387	NM_006392.4(NOP56):c.742T>C (p.Ser248Pro)	NOP56 (S248P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554386	NM_006392.4(NOP56):c.376C>T (p.Arg126Cys)	NOP56 (R126C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522170	NM_006392.4(NOP56):c.899T>C (p.Ile300Thr)	NOP56 (I300T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484912	NM_006392.4(NOP56):c.1693G>A (p.Glu565Lys)	NOP56 (E565K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471917	NM_006392.4(NOP56):c.563G>A (p.Arg188His)	NOP56 (R188H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467292	NM_006392.4(NOP56):c.1336C>T (p.Arg446Cys)	NOP56 (R446C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2408331	NM_006392.4(NOP56):c.775A>G (p.Ile259Val)	NOP56 (I259V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400679	NM_006392.4(NOP56):c.928G>A (p.Ala310Thr)	NOP56 (A310T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357123	NM_006392.4(NOP56):c.1622A>G (p.Glu541Gly)	NOP56 (E541G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264081	NM_006392.4(NOP56):c.1294G>C (p.Ala432Pro)	NOP56 (A432P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260121	NM_006392.4(NOP56):c.678C>G (p.Asp226Glu)	NOP56 (D226E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2239106	NM_006392.4(NOP56):c.541G>A (p.Asp181Asn)	NOP56 (D181N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224308	NM_006392.4(NOP56):c.1273A>G (p.Met425Val)	NOP56 (M425V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224036	NM_006392.4(NOP56):c.635G>A (p.Arg212His)	NOP56 (R212H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222603	NM_006392.4(NOP56):c.818C>G (p.Ser273Cys)	NOP56 (S273C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1298312	NM_006392.4(NOP56):c.909G>A (p.Ala303=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 36	GLikely pathogenic
Select item 1050721	NM_006392.4(NOP56):c.1357C>T (p.Arg453Trp)	NOP56 (R453W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1030104	NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg)	NOP56 (Q492R)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 36	GUncertain significance
Select item 816105	GRCh37/hg19 20p13(chr20:2412267-2644557)x3	NOP56, ZNF343 +5 more	Copy number gain	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 769065	NM_006392.4(NOP56):c.1725G>A (p.Ala575=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 523492	NM_006392.4(NOP56):c.452G>C (p.Ser151Thr)	NOP56 (S151T)	Single nucleotide variant (missense variant +1 more)	Mild global developmental delay +1 more	GUncertain significance
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 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 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 374423	NM_006392.4(NOP56):c.1364C>T (p.Ala455Val)	NOP56 (A455V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 155405	GRCh38/hg38 20p13(chr20:2526755-3081651)x3	C20orf141, CPXM1 +39 more	Copy number gain	See cases	GUncertain significance
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 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 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 129810	NM_006392.4(NOP56):c.361A>G (p.Ile121Val)	NOP56 (I121V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 129809	NM_006392.4(NOP56):c.1727T>C (p.Val576Ala)	NOP56 (V576A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 129808	NM_006392.4(NOP56):c.1424T>C (p.Met475Thr)	NOP56 (M475T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 129807	NM_006392.4(NOP56):c.105T>C (p.Ser35=)	LOC130065309, NOP56	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 129806	NM_006392.4(NOP56):c.1035T>C (p.Thr345=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 126458	NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)	LOC109504727, LOC130065308 +1 more	Microsatellite	Spinocerebellar ataxia type 36	GBenign
Select item 126457	NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]	NOP56, LOC109504727 +1 more	Microsatellite	Spinocerebellar ataxia type 36	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 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
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
Select item 31106	NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?]	LOC109504727, LOC130065308 +1 more	Microsatellite	Spinocerebellar ataxia type 36	GPathogenic

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Links from Gene

Items: 90