ClinVar for Gene (Select 1059) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265863	NM_001810.6(CENPB):c.947T>C (p.Phe316Ser)	CENPB (F316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265862	NM_001810.6(CENPB):c.946T>G (p.Phe316Val)	CENPB (F316V)	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 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3142257	NM_001810.6(CENPB):c.791A>G (p.Asn264Ser)	CENPB (N264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142256	NM_001810.6(CENPB):c.757G>C (p.Gly253Arg)	CENPB (G253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142255	NM_001810.6(CENPB):c.613C>A (p.Pro205Thr)	CENPB (P205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142254	NM_001810.6(CENPB):c.524G>A (p.Arg175Gln)	CENPB (R175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142253	NM_001810.6(CENPB):c.497G>A (p.Gly166Asp)	CENPB (G166D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142252	NM_001810.6(CENPB):c.1606G>A (p.Gly536Ser)	CENPB (G536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142251	NM_001810.6(CENPB):c.1367G>A (p.Ser456Asn)	CENPB (S456N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142250	NM_001810.6(CENPB):c.1341G>C (p.Glu447Asp)	CENPB (E447D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142249	NM_001810.6(CENPB):c.1012C>G (p.Arg338Gly)	CENPB (R338G)	Single nucleotide variant (missense variant)	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	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 2652189	NM_001810.6(CENPB):c.1476C>G (p.Ala492=)	CENPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604055	NM_001810.6(CENPB):c.535C>T (p.Pro179Ser)	CENPB (P179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588186	NM_001810.6(CENPB):c.469C>G (p.Pro157Ala)	CENPB (P157A)	Single nucleotide variant (missense variant)	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 2556852	NM_001810.6(CENPB):c.1316G>A (p.Gly439Glu)	CENPB (G439E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539234	NM_001810.6(CENPB):c.1762A>G (p.Arg588Gly)	CENPB (R588G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517160	NM_001810.6(CENPB):c.889G>A (p.Gly297Ser)	CENPB (G297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483631	NM_001810.6(CENPB):c.1265G>A (p.Gly422Glu)	CENPB (G422E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478963	NM_001810.6(CENPB):c.828G>T (p.Lys276Asn)	CENPB (K276N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474651	NM_001810.6(CENPB):c.1142C>T (p.Ala381Val)	CENPB (A381V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473352	NM_001810.6(CENPB):c.1355G>T (p.Gly452Val)	CENPB (G452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470660	NM_001810.6(CENPB):c.994C>A (p.Gln332Lys)	CENPB (Q332K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465582	NM_001810.6(CENPB):c.892C>G (p.Arg298Gly)	CENPB (R298G)	Single nucleotide variant (missense variant)	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 2368773	NM_001810.6(CENPB):c.577A>G (p.Ser193Gly)	CENPB (S193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339593	NM_001810.6(CENPB):c.73G>A (p.Asp25Asn)	CENPB (D25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322269	NM_001810.6(CENPB):c.1275G>C (p.Glu425Asp)	CENPB (E425D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257364	NM_001810.6(CENPB):c.1479G>T (p.Gln493His)	CENPB (Q493H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254563	NM_001810.6(CENPB):c.844G>T (p.Asp282Tyr)	CENPB (D282Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 686194	GRCh37/hg19 20p13(chr20:3654723-3796884)x3	ADAM33, C20orf27 +5 more	Copy number gain	not provided	GUncertain significance
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 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

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Links from Gene

Items: 72