ClinVar for Gene (Select 125138300) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560037	Single allele	ALPK3, LINC00933 +39 more	Deletion	not provided	GUncertain significance
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154518	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3	ALPK3, LINC00933 +40 more	Copy number gain	See cases	GUncertain significance
Select item 153577	GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 151217	GRCh38/hg38 15q25.3(chr15:84968749-85123019)x3	LOC125138300, LOC130057817 +12 more	Copy number gain	See cases	GLikely benign
Select item 148405	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1	ALPK3, LINC00933 +41 more	Copy number loss	See cases	GUncertain significance
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057971, LOC130057972 +630 more	Copy number gain	See cases	GPathogenic
Select item 146523	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1	ALPK3, LINC00933 +40 more	Copy number loss	See cases	GUncertain significance
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 57536	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance