ClinVar for MedGen (Select 766321) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810304	GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3	MVP, YPEL3 +27 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1703603	GRCh37/hg19 16p11.2(chr16:29591078-30177240)	ALDOA, ASPHD1 +24 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1703600	GRCh37/hg19 16p11.2(chr16:29628661-30306955)	ALDOA, ASPHD1 +28 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1703233	Single allele	LOC130058781, MAZ +92 more	Deletion	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1339950	GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1339949	GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625610	GRCh37/hg19 16p11.2(chr16:29827174-30198041)	ALDOA, ASPHD1 +19 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625608	GRCh37/hg19 16p11.2(chr16:29727054-29969912)	ASPHD1, C16orf54 +9 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625607	GRCh37/hg19 16p11.2(chr16:29678569-30199578)	ALDOA, ASPHD1 +25 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625604	GRCh37/hg19 16p11.2(chr16:29595483-30199713)	ALDOA, ASPHD1 +25 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625603	GRCh37/hg19 16p11.2(chr16:29532264-30271237)	ALDOA, ASPHD1 +28 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic