"GeneDx"[submitter] AND "LEFTY2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 418283	NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr)	LEFTY2 (P344T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 138111	NM_003240.5(LEFTY2):c.982G>A (p.Val328Ile)	LEFTY2 (V328I +1 more)	Single nucleotide variant (missense variant)	Left-right axis malformations +2 more	GBenign
Select item 138110	NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu)	LEFTY2 (P286L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 138109	NM_003240.5(LEFTY2):c.774C>T (p.Thr258=)	LEFTY2	Single nucleotide variant (synonymous variant)	Left-right axis malformations +2 more	GBenign
Select item 1271943	NM_003240.5(LEFTY2):c.738-40dup	LEFTY2	Duplication (intron variant)	not provided	GBenign
Select item 1280701	NM_003240.5(LEFTY2):c.738-113T>C	LEFTY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283493	NM_003240.5(LEFTY2):c.738-235del	LEFTY2	Deletion (intron variant)	not provided	GBenign
Select item 1246702	NM_003240.5(LEFTY2):c.737+333G>A	LEFTY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138108	NM_003240.5(LEFTY2):c.497+13C>G	LEFTY2	Single nucleotide variant (intron variant)	Left-right axis malformations +2 more	GBenign
Select item 138107	NM_003240.5(LEFTY2):c.324G>A (p.Pro108=)	LEFTY2	Single nucleotide variant (synonymous variant +1 more)	Left-right axis malformations +2 more	GBenign/Likely benign
Select item 1224213	NM_003240.5(LEFTY2):c.251-44G>C	LEFTY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250630	NM_003240.5(LEFTY2):c.250+221del	LEFTY2	Deletion (intron variant)	not provided	GBenign
Select item 1286216	NM_003240.5(LEFTY2):c.250+27C>T	LEFTY2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 295975	NM_003240.5(LEFTY2):c.214C>T (p.Arg72Cys)	LEFTY2 (R72C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 259005	NM_003240.5(LEFTY2):c.169G>A (p.Val57Met)	LEFTY2 (V57M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic