"GeneDx"[submitter] AND "LRRC53"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 152689	GRCh38/hg38 1p31.1(chr1:74320173-74823743)x3	CRYZ, ERICH3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1483704	NM_015978.3(TNNI3K):c.2159A>G (p.Glu720Gly)	FPGT-TNNI3K, LRRC53 +1 more (E720G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1290479	NM_015978.3(TNNI3K):c.2181+137T>G	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264801	NM_015978.3(TNNI3K):c.2182-85A>G	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257520	NM_015978.3(TNNI3K):c.2351+144C>T	FPGT-TNNI3K, LRRC53 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar