ClinVar for Gene (Select 4839) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300364	NM_001258308.2(NOP2):c.1000A>C (p.Asn334His)	NOP2 (N330H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300363	NM_001258308.2(NOP2):c.448T>A (p.Ser150Thr)	NOP2 (S146T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300362	NM_001258308.2(NOP2):c.1726A>G (p.Met576Val)	NOP2 (M572V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300361	NM_001258308.2(NOP2):c.269G>A (p.Gly90Asp)	NOP2 (G86D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300360	NM_001258308.2(NOP2):c.164G>C (p.Arg55Thr)	NOP2 (R55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300359	NM_001258308.2(NOP2):c.2059G>A (p.Glu687Lys)	NOP2 (E683K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300358	NM_001258308.2(NOP2):c.836C>T (p.Ser279Phe)	NOP2 (S279F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3201219	NM_001258308.2(NOP2):c.849C>A (p.Phe283Leu)	NOP2 (F279L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201218	NM_001258308.2(NOP2):c.694C>G (p.Gln232Glu)	NOP2 (Q228E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201217	NM_001258308.2(NOP2):c.658G>A (p.Val220Met)	NOP2 (V216M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201216	NM_001258308.2(NOP2):c.653C>T (p.Pro218Leu)	NOP2 (P214L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201215	NM_001258308.2(NOP2):c.507G>T (p.Gln169His)	NOP2 (Q202H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201213	NM_001258308.2(NOP2):c.499C>T (p.Arg167Trp)	NOP2 (R163W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201212	NM_001258308.2(NOP2):c.1882G>C (p.Gly628Arg)	NOP2 (G624R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201211	NM_001258308.2(NOP2):c.1880A>G (p.Lys627Arg)	NOP2 (K623R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201210	NM_001258308.2(NOP2):c.1774C>T (p.Pro592Ser)	NOP2 (P592S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201209	NM_001258308.2(NOP2):c.1690C>T (p.Arg564Cys)	NOP2 (R560C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201208	NM_001258308.2(NOP2):c.1289A>G (p.His430Arg)	NOP2 (H430R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201207	NM_001258308.2(NOP2):c.111C>G (p.Asp37Glu)	NOP2 (D37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201206	NM_001258308.2(NOP2):c.1126C>G (p.Pro376Ala)	NOP2 (P376A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642620	NM_001258308.2(NOP2):c.475-291G>A	NOP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642619	NM_001258308.2(NOP2):c.475-261A>G	NOP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642618	NM_001258308.2(NOP2):c.475-246G>A	NOP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622465	NM_001258308.2(NOP2):c.533T>A (p.Ile178Asn)	NOP2 (I178N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616906	NM_001258308.2(NOP2):c.2197C>T (p.Pro733Ser)	NOP2 (P733S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611521	NM_001258308.2(NOP2):c.2174C>T (p.Thr725Ile)	NOP2 (T721I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609603	NM_001258308.2(NOP2):c.733G>A (p.Asp245Asn)	NOP2 (D245N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609321	NM_001258308.2(NOP2):c.143G>A (p.Arg48Gln)	NOP2 (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597288	NM_001258308.2(NOP2):c.928G>A (p.Val310Ile)	NOP2 (V306I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553228	NM_001258308.2(NOP2):c.883T>G (p.Ser295Ala)	NOP2 (S328A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537328	NM_001258308.2(NOP2):c.1934C>T (p.Ala645Val)	NOP2 (A678V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489542	NM_001258308.2(NOP2):c.2412G>T (p.Arg804Ser)	NOP2 (R837S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482209	NM_001258308.2(NOP2):c.2375G>A (p.Arg792His)	NOP2 (R788H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461355	NM_001258308.2(NOP2):c.2206A>T (p.Thr736Ser)	NOP2 (T736S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2411281	NM_001258308.2(NOP2):c.1291C>T (p.Arg431Trp)	NOP2 (R427W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404315	NM_001258308.2(NOP2):c.871C>T (p.Leu291Phe)	NOP2 (L324F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403918	NM_001258308.2(NOP2):c.374T>C (p.Met125Thr)	NOP2 (M121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395376	NM_001258308.2(NOP2):c.1244A>G (p.Asn415Ser)	NOP2 (N411S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393525	NM_001258308.2(NOP2):c.601C>G (p.Pro201Ala)	NOP2 (P197A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381394	NM_001258308.2(NOP2):c.839A>G (p.Tyr280Cys)	NOP2 (Y276C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373271	NM_001258308.2(NOP2):c.2219T>C (p.Leu740Pro)	NOP2 (L740P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2368123	NM_001258308.2(NOP2):c.1253A>G (p.Asn418Ser)	NOP2 (N418S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354023	NM_001258308.2(NOP2):c.652C>T (p.Pro218Ser)	NOP2 (P251S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351393	NM_001258308.2(NOP2):c.1949T>C (p.Leu650Pro)	NOP2 (L646P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2338102	NM_001258308.2(NOP2):c.1103T>C (p.Leu368Pro)	NOP2 (L364P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336415	NM_001258308.2(NOP2):c.1219A>C (p.Lys407Gln)	NOP2 (K403Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330452	NM_001258308.2(NOP2):c.751C>T (p.Arg251Cys)	NOP2 (R284C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326740	NM_001258308.2(NOP2):c.1940T>A (p.Phe647Tyr)	NOP2 (F647Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313292	NM_001258308.2(NOP2):c.1664G>A (p.Arg555Gln)	NOP2 (R588Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309045	NM_001258308.2(NOP2):c.2024G>T (p.Ser675Ile)	NOP2 (S671I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308700	NM_001258308.2(NOP2):c.38G>C (p.Gly13Ala)	NOP2 (G13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303604	NM_001258308.2(NOP2):c.626G>C (p.Gly209Ala)	NOP2 (G209A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299883	NM_001258308.2(NOP2):c.2213C>G (p.Ala738Gly)	NOP2 (A738G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292240	NM_001258308.2(NOP2):c.2339C>G (p.Pro780Arg)	NOP2 (P776R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283440	NM_001258308.2(NOP2):c.1160G>A (p.Arg387Gln)	NOP2 (R387Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278178	NM_001258308.2(NOP2):c.1097A>G (p.Tyr366Cys)	NOP2 (Y362C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267070	NM_001258308.2(NOP2):c.752G>T (p.Arg251Leu)	NOP2 (R284L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262802	NM_001258308.2(NOP2):c.1039G>C (p.Val347Leu)	NOP2 (V343L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261014	NM_001258308.2(NOP2):c.232C>T (p.Pro78Ser)	NOP2 (P78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260622	NM_001258308.2(NOP2):c.2398A>C (p.Lys800Gln)	NOP2 (K833Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247206	NM_001258308.2(NOP2):c.908C>T (p.Ala303Val)	NOP2 (A303V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244895	NM_001258308.2(NOP2):c.1159C>T (p.Arg387Trp)	NOP2 (R420W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216532	NM_001258308.2(NOP2):c.375G>C (p.Met125Ile)	NOP2 (M125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213589	NM_001258308.2(NOP2):c.154G>A (p.Ala52Thr)	NOP2 (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	PEX5, PHB2 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 784524	NM_001258308.2(NOP2):c.1560+8C>T	NOP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770222	NM_001258308.2(NOP2):c.419C>T (p.Thr140Met)	NOP2 (T136M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768508	NM_001258308.2(NOP2):c.540G>C (p.Trp180Cys)	NOP2 (W176C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768507	NM_001258308.2(NOP2):c.799C>T (p.Leu267=)	NOP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768506	NM_001258308.2(NOP2):c.2102G>A (p.Arg701Gln)	NOP2 (R697Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725755	NM_001258308.2(NOP2):c.2354dup (p.Ser786fs)	NOP2 (S786fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 708541	NM_001258308.2(NOP2):c.472G>A (p.Ala158Thr)	NOP2 (A154T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687386	GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3	CD27, CD9 +14 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic

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