ClinVar for Gene (Select 84727) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322394	NM_032641.4(SPSB2):c.337G>C (p.Ala113Pro)	SPSB2 (A113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322393	NM_032641.4(SPSB2):c.260G>T (p.Gly87Val)	LOC130007282, SPSB2 (G87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322392	NM_032641.4(SPSB2):c.601C>A (p.Pro201Thr)	SPSB2 (P201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322391	NM_032641.4(SPSB2):c.728G>A (p.Arg243Gln)	SPSB2 (R243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322390	NM_032641.4(SPSB2):c.158G>A (p.Cys53Tyr)	LOC130007282, SPSB2 (C53Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169438	NM_032641.4(SPSB2):c.517A>G (p.Met173Val)	SPSB2 (M173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169437	NM_032641.4(SPSB2):c.445G>A (p.Ala149Thr)	SPSB2 (A149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169436	NM_032641.4(SPSB2):c.235C>T (p.Arg79Trp)	LOC130007282, SPSB2 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063252	GRCh37/hg19 12p13.31(chr12:6691292-6992208)x3	ACRBP, CD4 +16 more	Copy number gain	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 2555084	NM_032641.4(SPSB2):c.151A>G (p.Lys51Glu)	LOC130007282, SPSB2 (K51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530803	NM_032641.4(SPSB2):c.556T>A (p.Tyr186Asn)	SPSB2 (Y186N)	Single nucleotide variant (missense variant)	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 2410872	NM_032641.4(SPSB2):c.263T>A (p.Leu88Gln)	LOC130007282, SPSB2 (L88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409423	NM_032641.4(SPSB2):c.112C>T (p.Pro38Ser)	LOC130007282, SPSB2 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401111	NM_032641.4(SPSB2):c.733G>A (p.Gly245Ser)	SPSB2 (G245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360511	NM_032641.4(SPSB2):c.139G>A (p.Gly47Ser)	LOC130007282, SPSB2 (G47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264016	NM_032641.4(SPSB2):c.228T>G (p.Asp76Glu)	LOC130007282, SPSB2 (D76E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255174	NM_032641.4(SPSB2):c.410G>A (p.Arg137Gln)	SPSB2 (R137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246462	NM_032641.4(SPSB2):c.511C>G (p.Leu171Val)	SPSB2 (L171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232807	NM_032641.4(SPSB2):c.121G>T (p.Gly41Trp)	LOC130007282, SPSB2 (G41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231480	NM_032641.4(SPSB2):c.323T>G (p.Val108Gly)	SPSB2 (V108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222665	NM_032641.4(SPSB2):c.356A>G (p.His119Arg)	SPSB2 (H119R)	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 1527683	GRCh37/hg19 12p13.31(chr12:6872634-7244086)	ATN1, C12orf57 +20 more	Copy number gain	not specified	GUncertain significance
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 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	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 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	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 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +34 more	Duplication	Temtamy syndrome	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 781241	NM_032641.4(SPSB2):c.665-12_665-10del	SPSB2	Deletion (intron variant)	not provided	GBenign
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 685583	GRCh37/hg19 12p13.31(chr12:6872484-7009333)x3	CD4, CDCA3 +8 more	Copy number gain	not provided	GUncertain significance
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
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395185	GRCh37/hg19 12p13.31(chr12:6980101-6981882)x1	SPSB2, TPI1	Copy number loss	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic

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Items: 75