ClinVar for MedGen (Select 467404) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235943	GRCh38/hg38 15q11.2(chr15:22600363-23120182)	CYFIP1, GOLGA6L1 +24 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 3235914	GRCh38/hg38 15q11.2(chr15:22583760-23123885)	CYFIP1, LOC112272575 +18 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2580327	GRCh37/hg19 15q11.2(chr15:22744149-23246340)x1	CYFIP1, GOLGA6L1 +3 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2574691	GRCh37/hg19 15q11.2(chr15:22770421-23195725)	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2574676	GRCh37/hg19 15q11.2(chr15:22770421-23282799)	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2506528	GRCh37/hg19 15q11.2(chr15:22833525-23412276)	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 2502281	GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	Gnot provided
Select item 2499632	GRCh38/hg38 15q11.2(chr15:22787849-23051049)	CYFIP1, LOC112272575 +10 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GUncertain significance
Select item 2499631	GRCh38/hg38 15q11.2(chr15:22787668-23051531)	CYFIP1, LOC112272575 +11 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GUncertain significance
Select item 2499630	GRCh38/hg38 15q11.2(chr15:22781888-23030923)	CYFIP1, LOC112272575 +14 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GUncertain significance
Select item 2498204	NC_000015.10:g.22698177_(23120963_23380983)del	CYFIP1, GOLGA6L1 +22 more	Deletion	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 1330198	GRCh37/hg19 15q11.2(chr15:22743127-23246000)x1	CYFIP1, GOLGA6L1 +3 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 1330174	GRCh37/hg19 15q11.2(chr15:22744149-23407579)x3	CYFIP1, GOLGA6L1 +3 more	Copy number gain	Chromosome 15q11.2 deletion syndrome	GUncertain significance
Select item 983494	NC_000017.11:g.2688360_2784321del	CCDC92B, CLUH +10 more	Deletion	Chromosome 15q11.2 deletion syndrome	GLikely pathogenic
Select item 666449	GRCh37/hg19 15q11.2(chr15:22765628-23217514)x1	CYFIP1, NIPA1 +2 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GPathogenic