"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC121627 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044193	NM_001378328.1(CELSR1):c.7584+9A>T	CELSR1, LOC121627952	Single nucleotide variant (intron variant)	CELSR1-related disorder	GBenign
Select item 2297156	NM_001378328.1(CELSR1):c.7568A>G (p.Asn2523Ser)	CELSR1, LOC121627952 (N2523S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 786700	NM_001378328.1(CELSR1):c.7554C>A (p.Phe2518Leu)	CELSR1, LOC121627952 (F2518L)	Single nucleotide variant (missense variant)	Lymphatic malformation 9 +2 more	GBenign/Likely benign
Select item 2653317	NM_001378328.1(CELSR1):c.7524C>T (p.Ala2508=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	CELSR1-related disorder +1 more	GBenign/Likely benign
Select item 2653318	NM_001378328.1(CELSR1):c.7422C>T (p.Ala2474=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	CELSR1-related disorder +1 more	GLikely benign
Select item 777755	NM_001378328.1(CELSR1):c.7395C>A (p.Val2465=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	CELSR1-related disorder +1 more	GBenign/Likely benign

ClinVar