BOLA2-SMG1P6[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	LOC125146439, LOC125146440 +179 more	Copy number gain	See cases	GPathogenic
Select item 151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	ALDOA, APOBR +187 more	Copy number loss	See cases	GPathogenic
Select item 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 more	Copy number loss	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	ALDOA, APOBR +171 more	Copy number gain	See cases	GPathogenic
Select item 34150	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	ALDOA, APOBR +171 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 60447	GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3	ALDOA, ASPHD1 +127 more	Copy number gain	See cases	GPathogenic
Select item 33024	GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3	ALDOA, ASPHD1 +112 more	Copy number gain	See cases	GLikely pathogenic
Select item 160840	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 57462	GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3	ALDOA, ASPHD1 +120 more	Copy number gain	See cases	GPathogenic
Select item 34193	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 32947	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3	ALDOA, ASPHD1 +108 more	Copy number gain	See cases	GPathogenic
Select item 149487	GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3	ALDOA, ASPHD1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146827	GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3	ALDOA, ASPHD1 +107 more	Copy number gain	See cases	GPathogenic
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 223115	NC_000016.10:g.(?_29390980)_(30215610_?)dup	ALDOA, ASPHD1 +117 more	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 545198	Single allele	LOC121847977, LOC130058809 +118 more	Duplication	Autism	GPathogenic
Select item 155161	GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1	ALDOA, ASPHD1 +105 more	Copy number loss	See cases	GPathogenic
Select item 152773	GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1	ALDOA, ASPHD1 +110 more	Copy number loss	See cases	GPathogenic
Select item 148545	GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3	ALDOA, ASPHD1 +117 more	Copy number gain	See cases	GLikely pathogenic
Select item 60464	GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3	ALDOA, ASPHD1 +117 more	Copy number gain	See cases	GPathogenic
Select item 60375	GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 60374	GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3	ALDOA, ASPHD1 +108 more	Copy number gain	See cases	GPathogenic
Select item 1679413	NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del	LOC130058767, LOC130058768 +119 more	Deletion	See cases	GLikely pathogenic, low penetrance

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Items: 29