"GeneDx"[submitter] AND "LOC129999273"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 258130	NM_001458.5(FLNC):c.2122-17T>C	FLNC, LOC129999273	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 512684	NM_001458.5(FLNC):c.2124C>T (p.Asp708=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 258132	NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)	FLNC, LOC129999273 (A709T)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 289074	NM_001458.5(FLNC):c.2130C>T (p.Asp710=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 471996	NM_001458.5(FLNC):c.2142C>T (p.Ile714=)	FLNC, LOC129999273	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +5 more	GLikely benign

ClinVar