"Genome-Nilou Lab"[submitter] AND "VANGL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286834	NM_138959.3(VANGL1):c.813-45C>A	VANGL1	Single nucleotide variant (intron variant)	Sacral defect with anterior meningocele +1 more	GBenign
Select item 292124	NM_001232.4(CASQ2):c.*138T>C	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 44159	NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GBenign/Likely benign
Select item 44157	NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 44153	NM_001232.4(CASQ2):c.1014+9C>T	CASQ2, VANGL1	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 44152	NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign

ClinVar