"GeneDx"[submitter] AND "TMEM230"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58966	GRCh38/hg38 20p13-12.3(chr20:5030412-5435054)x3	CDS2, LINC00658 +20 more	Copy number gain	See cases	GUncertain significance
Select item 1247220	NM_001009925.2(TMEM230):c.223-171G>C	TMEM230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230102	NM_001009925.2(TMEM230):c.223-175del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1291916	NM_001009925.2(TMEM230):c.222+110_222+113del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1288935	NM_001009925.2(TMEM230):c.222+104_222+113del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1245471	NM_001009925.2(TMEM230):c.222+106_222+113del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1230424	NM_001009925.2(TMEM230):c.222+108_222+113del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1182099	NM_001009925.2(TMEM230):c.222+110_222+111del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1275019	NM_001009925.2(TMEM230):c.222+68GT[22]	TMEM230	Microsatellite (intron variant)	not provided	GBenign
Select item 1265588	NM_001009925.2(TMEM230):c.222+68GT[23]	TMEM230	Microsatellite (intron variant)	not provided	GBenign
Select item 1264957	NM_001009925.2(TMEM230):c.141A>G (p.Ala47=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1265859	NM_001009925.2(TMEM230):c.117T>A (p.Pro39=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GBenign
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