"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "VANGL1" - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 726039	NM_138959.3(VANGL1):c.205-4C>T	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728703	NM_138959.3(VANGL1):c.231G>A (p.Thr77=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +2 more	GConflicting classifications of pathogenicity
Select item 728064	NM_138959.3(VANGL1):c.249G>A (p.Ser83=)	VANGL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 733877	NM_138959.3(VANGL1):c.285C>T (p.Ile95=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +2 more	GBenign/Likely benign
Select item 722311	NM_138959.3(VANGL1):c.306C>T (p.Ser102=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729082	NM_138959.3(VANGL1):c.307G>A (p.Val103Met)	VANGL1 (V101M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782732	NM_138959.3(VANGL1):c.330C>T (p.Tyr110=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 720994	NM_138959.3(VANGL1):c.345C>T (p.Val115=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 724513	NM_138959.3(VANGL1):c.397T>C (p.Leu133=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 167817	NM_138959.3(VANGL1):c.435T>C (p.Cys145=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +3 more	GBenign/Likely benign
Select item 722035	NM_138959.3(VANGL1):c.640C>T (p.Arg214Trp)	VANGL1 (R212W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722253	NM_138959.3(VANGL1):c.714C>T (p.Ile238=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708510	NM_138959.3(VANGL1):c.774C>T (p.Thr258=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741537	NM_138959.3(VANGL1):c.921C>T (p.Ala307=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 292011	NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala)	VANGL1 (E347A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 773637	NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg)	VANGL1 (Q376R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 746273	NM_138959.3(VANGL1):c.1344C>G (p.Gly448=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730525	NM_138959.3(VANGL1):c.1554A>G (p.Leu518=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44159	NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +7 more	GBenign/Likely benign
Select item 44157	NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +7 more	GBenign/Likely benign
Select item 44153	NM_001232.4(CASQ2):c.1014+9C>T	CASQ2, VANGL1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +7 more	GBenign/Likely benign
Select item 44152	NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	CASQ2, VANGL1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance

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Items: 23