VANGL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 291996	NM_138959.3(VANGL1):c.-247CGG[6]	VANGL1	Microsatellite (5 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874453	NM_138959.3(VANGL1):c.-239G>A	VANGL1	Single nucleotide variant (5 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GBenign/Likely benign
Select item 291997	NM_138959.3(VANGL1):c.-226G>C	VANGL1	Single nucleotide variant (5 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GBenign
Select item 291998	NM_138959.3(VANGL1):c.-224C>A	VANGL1	Single nucleotide variant (5 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GBenign
Select item 291999	NM_138959.3(VANGL1):c.-171C>A	VANGL1	Single nucleotide variant (5 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 292000	NM_138959.3(VANGL1):c.-145G>T	VANGL1	Single nucleotide variant (5 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 1301804	NM_138959.3(VANGL1):c.-137-11dup	LOC121725046, VANGL1	Duplication (intron variant)	not specified	GBenign
Select item 292001	NM_138959.3(VANGL1):c.-115G>C	LOC121725046, VANGL1	Single nucleotide variant (5 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 292002	NM_138959.3(VANGL1):c.-24C>T	VANGL1	Single nucleotide variant (5 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 3188133	NM_138959.3(VANGL1):c.10G>A (p.Glu4Lys)	VANGL1 (E4K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545125	NM_138959.3(VANGL1):c.41C>T (p.Ser14Leu)	VANGL1 (S14L)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 874500	NM_138959.3(VANGL1):c.51G>A (p.Ser17=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 2312517	NM_138959.3(VANGL1):c.68A>C (p.Gln23Pro)	VANGL1 (Q23P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1290410	NM_138959.3(VANGL1):c.72-114G>A	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 874501	NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys)	VANGL1 (E25K)	Single nucleotide variant (missense variant)	Neural tube defect +2 more	GConflicting classifications of pathogenicity
Select item 874502	NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu)	VANGL1 (S33L)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 2386219	NM_138959.3(VANGL1):c.103C>T (p.Arg35Trp)	VANGL1 (R35W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 292003	NM_138959.3(VANGL1):c.114C>T (p.Asp38=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 3035892	NM_138959.3(VANGL1):c.138C>T (p.Val46=)	VANGL1	Single nucleotide variant (synonymous variant)	VANGL1-related condition	GLikely benign
Select item 591991	NM_138959.3(VANGL1):c.155_156del (p.Thr52fs)	VANGL1 (T52fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2533121	NM_138959.3(VANGL1):c.196G>A (p.Glu66Lys)	VANGL1 (E66K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726039	NM_138959.3(VANGL1):c.205-4C>T	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188136	NM_138959.3(VANGL1):c.216G>C (p.Trp72Cys)	VANGL1 (W72C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 728703	NM_138959.3(VANGL1):c.231G>A (p.Thr77=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 801533	NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu)	VANGL1 (S83L +1 more)	Single nucleotide variant (missense variant)	Neural tube defect	GBenign
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 2204658	NM_138959.3(VANGL1):c.254A>G (p.His85Arg)	VANGL1 (H83R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445589	NM_138959.3(VANGL1):c.274A>G (p.Ile92Val)	VANGL1 (I92V +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +3 more	GConflicting classifications of pathogenicity
Select item 733877	NM_138959.3(VANGL1):c.285C>T (p.Ile95=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided +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 876455	NM_138959.3(VANGL1):c.312G>C (p.Gly104=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +1 more	GUncertain significance
Select item 292004	NM_138959.3(VANGL1):c.316G>A (p.Asp106Asn)	VANGL1 (D106N +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 446031	NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg)	VANGL1 (K108R +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely 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 292005	NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr)	VANGL1 (A116T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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)	not specified +3 more	GBenign/Likely benign
Select item 873558	NM_138959.3(VANGL1):c.453G>A (p.Gly151=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 1301805	NM_138959.3(VANGL1):c.497G>A (p.Gly166Glu)	VANGL1 (G164E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458856	NM_138959.3(VANGL1):c.517C>T (p.Arg173Cys)	VANGL1 (R171C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 801534	NM_138959.3(VANGL1):c.518G>A (p.Arg173His)	VANGL1 (R173H +1 more)	Single nucleotide variant (missense variant)	Neural tube defect	GBenign
Select item 167818	NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)	VANGL1 (R175W +1 more)	Single nucleotide variant (missense variant)	Skeletal dysplasia +18 more	GConflicting classifications of pathogenicity
Select item 183430	NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln)	VANGL1 (R181Q +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 292006	NM_138959.3(VANGL1):c.572T>C (p.Val191Ala)	VANGL1 (V191A +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +2 more	GConflicting classifications of pathogenicity
Select item 292007	NM_138959.3(VANGL1):c.575T>C (p.Leu192Pro)	VANGL1 (L192P +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +2 more	GConflicting classifications of pathogenicity
Select item 2621734	NM_138959.3(VANGL1):c.596C>T (p.Ser199Phe)	VANGL1 (S197F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875484	NM_138959.3(VANGL1):c.612C>T (p.Tyr204=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +1 more	GUncertain significance
Select item 875485	NM_138959.3(VANGL1):c.619C>T (p.Arg207Cys)	VANGL1 (R205C +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +1 more	GUncertain significance
Select item 1050707	NM_138959.3(VANGL1):c.635G>A (p.Arg212Gln)	VANGL1 (R210Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2211340	NM_138959.3(VANGL1):c.679G>T (p.Val227Leu)	VANGL1 (V227L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875486	NM_138959.3(VANGL1):c.681G>A (p.Val227=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 3188137	NM_138959.3(VANGL1):c.682G>A (p.Asp228Asn)	VANGL1 (D226N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722253	NM_138959.3(VANGL1):c.714C>T (p.Ile238=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346	NM_138959.3(VANGL1):c.715G>A (p.Val239Ile)	VANGL1 (V239I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875487	NM_138959.3(VANGL1):c.759G>C (p.Gln253His)	VANGL1 (Q251H +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 292008	NM_138959.3(VANGL1):c.765C>T (p.Val255=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 708510	NM_138959.3(VANGL1):c.774C>T (p.Thr258=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508375	NM_138959.3(VANGL1):c.787C>T (p.Arg263Cys)	VANGL1 (R261C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277654	NM_138959.3(VANGL1):c.788G>A (p.Arg263His)	VANGL1 (R261H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 292009	NM_138959.3(VANGL1):c.812+9C>T	VANGL1	Single nucleotide variant (intron variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 1258288	NM_138959.3(VANGL1):c.813-197T>C	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230592	NM_138959.3(VANGL1):c.813-193C>T	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240565	NM_138959.3(VANGL1):c.813-60G>A	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1347	NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln)	VANGL1 (R274Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance; risk factor
Select item 1027390	NM_138959.3(VANGL1):c.838del (p.Val279_Leu280insTer)	VANGL1	Deletion (nonsense)	Sacral defect with anterior meningocele	GPathogenic
Select item 2624196	NM_138959.3(VANGL1):c.844A>G (p.Asn282Asp)	VANGL1 (N280D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876504	NM_138959.3(VANGL1):c.867C>A (p.Ile289=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +1 more	GUncertain significance
Select item 873609	NM_138959.3(VANGL1):c.868T>C (p.Tyr290His)	VANGL1 (Y288H +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 2216037	NM_138959.3(VANGL1):c.869A>G (p.Tyr290Cys)	VANGL1 (Y288C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 292010	NM_138959.3(VANGL1):c.914A>T (p.His305Leu)	VANGL1 (H305L +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 741537	NM_138959.3(VANGL1):c.921C>T (p.Ala307=)	VANGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188138	NM_138959.3(VANGL1):c.938A>G (p.Asn313Ser)	VANGL1 (N311S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1283951	NM_138959.3(VANGL1):c.946+62A>C	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225735	NM_138959.3(VANGL1):c.946+312G>T	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236883	NM_138959.3(VANGL1):c.947-106C>T	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188139	NM_138959.3(VANGL1):c.977G>A (p.Arg326Gln)	VANGL1 (R326Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1348	NM_138959.3(VANGL1):c.983T>C (p.Met328Thr)	VANGL1 (M328T +1 more)	Single nucleotide variant (missense variant)	Neural tube defects, susceptibility to	Grisk factor
Select item 873610	NM_138959.3(VANGL1):c.1023C>T (p.Asn341=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
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 292012	NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys)	VANGL1 (E349K +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +1 more	GUncertain significance
Select item 2482778	NM_138959.3(VANGL1):c.1049A>G (p.His350Arg)	VANGL1 (H348R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 873611	NM_138959.3(VANGL1):c.1050T>C (p.His350=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 2517016	NM_138959.3(VANGL1):c.1058G>A (p.Arg353Gln)	VANGL1 (R351Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1246632	NM_138959.3(VANGL1):c.1079+165T>C	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182720	NM_138959.3(VANGL1):c.1079+220G>A	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261294	NM_138959.3(VANGL1):c.1079+264A>G	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249041	NM_138959.3(VANGL1):c.1080-276T>C	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271142	NM_138959.3(VANGL1):c.1080-250C>T	VANGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3068148	NM_138959.3(VANGL1):c.1084_1093del (p.Val362fs)	VANGL1 (V360fs +1 more)	Deletion (frameshift variant)	Neural tube defect	GUncertain significance
Select item 773637	NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg)	VANGL1 (Q376R +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +2 more	GBenign/Likely benign
Select item 292013	NM_138959.3(VANGL1):c.1172G>T (p.Arg391Met)	VANGL1 (R391M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 874610	NM_138959.3(VANGL1):c.1201A>C (p.Met401Leu)	VANGL1 (M399L +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +2 more	GUncertain significance
Select item 874611	NM_138959.3(VANGL1):c.1210G>T (p.Ala404Ser)	VANGL1 (A402S +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 3188134	NM_138959.3(VANGL1):c.1228C>T (p.Arg410Cys)	VANGL1 (R408C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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