ClinVar for Gene (Select 92806) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2555429	NR_172519.1(CENPBD1):n.1014A>C	CENPBD1	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2470600	NR_172519.1(CENPBD1):n.905G>A	CENPBD1	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GLikely benign
Select item 2465269	NR_172519.1(CENPBD1):n.960G>T	CENPBD1	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	SPIRE2, TCF25 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2366445	NR_172519.1(CENPBD1):n.758G>A	CENPBD1	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2334203	NR_172519.1(CENPBD1):n.792C>A	CENPBD1	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2329768	NR_172519.1(CENPBD1):n.716G>A	CENPBD1	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GUncertain significance
Select item 2284295	NR_172519.1(CENPBD1):n.1049G>A	CENPBD1	Single nucleotide variant (non-coding transcript variant)	Inborn genetic diseases	GLikely benign
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1340329	GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	CDK10, ANKRD11 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 980110	GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3	DEF8, FANCA +21 more	Copy number gain	not provided	GUncertain significance
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 687183	GRCh37/hg19 16q24.3(chr16:89991078-90155062)x3	CENPBD1, DBNDD1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564372	GRCh37/hg19 16q24.3(chr16:89828398-90155062)x3	GAS8, GAS8-AS1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	VPS9D1, ZC3H18 +59 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 394981	GRCh37/hg19 16q24.3(chr16:90038122-90049044)x3	CENPBD1	Copy number gain	See cases	GBenign
Select item 393929	GRCh37/hg19 16q24.3(chr16:89880964-90133246)x3	CENPBD1, DBNDD1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 253944	GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3	ZNF276, SPIRE2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 253762	GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1	SPIRE2, TUBB3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 148919	GRCh38/hg38 16q24.3(chr16:89939453-90096995)x1	CENPBD1, DBNDD1 +20 more	Copy number loss	See cases	GUncertain significance
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LINC00917, LINC01081 +566 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 58272	GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1	CENPBD1, DEF8 +30 more	Copy number loss	See cases	GUncertain significance
Select item 58271	GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	CENPBD1, DBNDD1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 34317	GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1	CENPBD1, DBNDD1 +30 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 64