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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 1297918	NM_145059.3(FCSK):c.522C>T (p.Ile174=)	FCSK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1300567	NM_145059.3(FCSK):c.2103G>A (p.Pro701=)	FCSK	Single nucleotide variant (synonymous variant)	not provided	GBenign

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