15771[HGNC] - ClinVar

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Items: 92

	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	LOC129456123, LOC130065248 +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	ADAM33, ADISSP +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	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
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +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 155405	GRCh38/hg38 20p13(chr20:2526755-3081651)x3	C20orf141, CPXM1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2350154	NM_019609.5(CPXM1):c.2182C>T (p.Arg728Trp)	CPXM1 (R654W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456414	NM_019609.5(CPXM1):c.2174G>A (p.Arg725His)	CPXM1 (R651H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3269309	NM_019609.5(CPXM1):c.2132T>C (p.Leu711Pro)	CPXM1 (L637P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770813	NM_019609.5(CPXM1):c.2131C>T (p.Leu711=)	CPXM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2395693	NM_019609.5(CPXM1):c.2123T>C (p.Leu708Pro)	CPXM1 (L708P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393918	NM_019609.5(CPXM1):c.2057G>A (p.Arg686Gln)	CPXM1 (R612Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076970	NM_019609.5(CPXM1):c.2056C>T (p.Arg686Trp)	CPXM1 (R612W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593145	NM_019609.5(CPXM1):c.2051A>G (p.Asn684Ser)	CPXM1 (N610S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3076969	NM_019609.5(CPXM1):c.2047C>T (p.Arg683Trp)	CPXM1 (R609W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308861	NM_019609.5(CPXM1):c.1949A>G (p.His650Arg)	CPXM1 (H650R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076968	NM_019609.5(CPXM1):c.1933G>A (p.Val645Met)	CPXM1 (V571M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541195	NM_019609.5(CPXM1):c.1901C>T (p.Thr634Met)	CPXM1 (T560M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076967	NM_019609.5(CPXM1):c.1898A>G (p.Asp633Gly)	CPXM1 (D559G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352363	NM_019609.5(CPXM1):c.1709C>T (p.Thr570Met)	CPXM1 (T570M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269311	NM_019609.5(CPXM1):c.1693G>C (p.Gly565Arg)	CPXM1 (G565R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076966	NM_019609.5(CPXM1):c.1678G>A (p.Gly560Ser)	CPXM1 (G560S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076965	NM_019609.5(CPXM1):c.1672G>T (p.Val558Leu)	CPXM1 (V558L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3269308	NM_019609.5(CPXM1):c.1646G>T (p.Arg549Leu)	CPXM1 (R549L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206192	NM_019609.5(CPXM1):c.1646G>A (p.Arg549Gln)	CPXM1 (R549Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456374	NM_019609.5(CPXM1):c.1631A>G (p.Gln544Arg)	CPXM1 (Q544R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475856	NM_019609.5(CPXM1):c.1610C>T (p.Ala537Val)	CPXM1 (A537V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224122	NM_019609.5(CPXM1):c.1588C>A (p.Arg530Ser)	CPXM1 (R530S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259582	NM_019609.5(CPXM1):c.1576G>A (p.Asp526Asn)	CPXM1 (D526N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269307	NM_019609.5(CPXM1):c.1555G>A (p.Glu519Lys)	CPXM1 (E519K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269310	NM_019609.5(CPXM1):c.1553G>A (p.Arg518His)	CPXM1 (R518H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076964	NM_019609.5(CPXM1):c.1553G>T (p.Arg518Leu)	CPXM1 (R518L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290890	NM_019609.5(CPXM1):c.1525G>A (p.Asp509Asn)	CPXM1 (D509N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269314	NM_019609.5(CPXM1):c.1377C>G (p.Asn459Lys)	CPXM1 (N459K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320070	NM_019609.5(CPXM1):c.1335G>T (p.Trp445Cys)	CPXM1 (W445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289489	NM_019609.5(CPXM1):c.1274G>A (p.Arg425His)	CPXM1 (R425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076963	NM_019609.5(CPXM1):c.1205C>G (p.Ser402Cys)	CPXM1 (S402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076962	NM_019609.5(CPXM1):c.1204T>A (p.Ser402Thr)	CPXM1 (S402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226529	NM_019609.5(CPXM1):c.1202C>T (p.Pro401Leu)	CPXM1 (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269306	NM_019609.5(CPXM1):c.1187G>T (p.Arg396Leu)	CPXM1 (R396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076961	NM_019609.5(CPXM1):c.1186C>T (p.Arg396Cys)	CPXM1 (R396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277438	NM_019609.5(CPXM1):c.1073G>A (p.Gly358Asp)	CPXM1 (G358D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302298	NM_019609.5(CPXM1):c.1055A>G (p.Glu352Gly)	CPXM1 (E352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494347	NM_019609.5(CPXM1):c.913A>G (p.Met305Val)	CPXM1 (M305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747264	NM_019609.5(CPXM1):c.882T>C (p.Pro294=)	CPXM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2342131	NM_019609.5(CPXM1):c.866C>T (p.Ser289Leu)	CPXM1 (S289L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279969	NM_019609.5(CPXM1):c.863C>T (p.Ala288Val)	CPXM1 (A288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076972	NM_019609.5(CPXM1):c.766C>T (p.Pro256Ser)	CPXM1 (P256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254814	NM_019609.5(CPXM1):c.565A>G (p.Thr189Ala)	CPXM1 (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681210	NM_019609.5(CPXM1):c.555G>A (p.Ser185=)	CPXM1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2406695	NM_019609.5(CPXM1):c.482G>A (p.Gly161Glu)	CPXM1 (G161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454191	NM_019609.5(CPXM1):c.436C>T (p.Arg146Trp)	CPXM1 (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478571	NM_019609.5(CPXM1):c.394G>A (p.Ala132Thr)	CPXM1 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466856	NM_019609.5(CPXM1):c.386G>A (p.Arg129Gln)	CPXM1 (R129Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538883	NM_019609.5(CPXM1):c.385C>T (p.Arg129Trp)	CPXM1 (R129W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269305	NM_019609.5(CPXM1):c.371G>A (p.Arg124Gln)	CPXM1 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524642	NM_019609.5(CPXM1):c.322G>A (p.Ala108Thr)	CPXM1 (A108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617979	NM_019609.5(CPXM1):c.289G>A (p.Val97Met)	CPXM1 (V97M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076971	NM_019609.5(CPXM1):c.227T>C (p.Met76Thr)	CPXM1 (M76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245669	NM_019609.5(CPXM1):c.199C>G (p.Arg67Gly)	CPXM1 (R67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486264	NM_019609.5(CPXM1):c.134A>G (p.His45Arg)	CPXM1 (H45R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347408	NM_019609.5(CPXM1):c.118T>G (p.Ser40Ala)	CPXM1 (S40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269313	NM_019609.5(CPXM1):c.101C>T (p.Thr34Ile)	CPXM1 (T34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269304	NM_019609.5(CPXM1):c.94C>A (p.Pro32Thr)	CPXM1 (P32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600719	NM_019609.5(CPXM1):c.61G>C (p.Ala21Pro)	CPXM1 (A21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269312	NM_019609.5(CPXM1):c.37C>T (p.Pro13Ser)	CPXM1 (P13S)	Single nucleotide variant (missense variant)	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 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	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +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 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	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 685366	GRCh37/hg19 20p13(chr20:2738670-3054217)x3	C20orf141, CPXM1 +8 more	Copy number gain	not provided	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 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: 92