15854[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 3262014	NM_014962.4(BTBD3):c.23A>G (p.Asn8Ser)	BTBD3, BTBD3-AS1 (N8S)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 2216957	NM_014962.4(BTBD3):c.62C>T (p.Thr21Met)	BTBD3, BTBD3-AS1 (T21M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3262011	NM_014962.4(BTBD3):c.221A>C (p.Asn74Thr)	BTBD3, BTBD3-AS1 (N13T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2336379	NM_014962.4(BTBD3):c.245A>G (p.Gln82Arg)	BTBD3, BTBD3-AS1 (Q21R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262012	NM_014962.4(BTBD3):c.265A>G (p.Ser89Gly)	BTBD3, BTBD3-AS1 (S89G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3135425	NM_014962.4(BTBD3):c.271A>G (p.Asn91Asp)	BTBD3, BTBD3-AS1 (N30D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3135426	NM_014962.4(BTBD3):c.289C>G (p.Pro97Ala)	BTBD3, BTBD3-AS1 (P97A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2362876	NM_014962.4(BTBD3):c.526G>A (p.Ala176Thr)	BTBD3 (A115T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304584	NM_014962.4(BTBD3):c.642T>A (p.Asn214Lys)	BTBD3 (N63K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226908	NM_014962.4(BTBD3):c.909G>A (p.Ala303=)	BTBD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260743	NM_014962.4(BTBD3):c.995A>G (p.Asn332Ser)	BTBD3 (N181S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262013	NM_014962.4(BTBD3):c.1297G>A (p.Val433Ile)	BTBD3 (V372I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135424	NM_014962.4(BTBD3):c.1394C>T (p.Thr465Ile)	BTBD3 (T314I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338444	GRCh37/hg19 20p12.3-12.1(chr20:5454270-13610745)x1	ANKEF1, BMP2 +22 more	Copy number loss	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 3062400	GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1	ANKEF1, BTBD3 +10 more	Copy number loss	not specified	GPathogenic
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 1526679	GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958)	ANKEF1, BTBD3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 979570	GRCh37/hg19 20p12.2-12.1(chr20:11703371-12682666)x3	BTBD3	Copy number gain	not provided	GLikely benign
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 564631	GRCh37/hg19 20p12.2(chr20:11282035-11922404)x3	BTBD3	Copy number gain	not provided	GLikely benign
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 442026	GRCh37/hg19 20p12.2-12.1(chr20:11658744-12624385)x3	BTBD3	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 394522	GRCh37/hg19 20p12.2(chr20:11334702-11905269)x3	BTBD3	Copy number gain	See cases	GLikely benign
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic

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Items: 46