ClinVar for MedGen (Select 325455) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 179

<< First< Prev

Page of 2

	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 1027390	NM_138959.3(VANGL1):c.838del (p.Val279_Leu280insTer)	VANGL1	Deletion (nonsense)	Sacral defect with anterior meningocele	GPathogenic
Select item 876932	NM_138959.3(VANGL1):c.*6687A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 876931	NM_138959.3(VANGL1):c.*6681A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 876833	NM_138959.3(VANGL1):c.*5008T>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GBenign/Likely benign
Select item 876832	NM_138959.3(VANGL1):c.*4800C>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 876784	NM_138959.3(VANGL1):c.*3708C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 876783	NM_138959.3(VANGL1):c.*3671T>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 876735	NM_138959.3(VANGL1):c.*3150T>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 876734	NM_138959.3(VANGL1):c.*3049G>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 876685	NM_138959.3(VANGL1):c.*2344A>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GBenign/Likely benign
Select item 876642	NM_138959.3(VANGL1):c.*1652C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GBenign/Likely benign
Select item 876641	NM_138959.3(VANGL1):c.*1638A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 876504	NM_138959.3(VANGL1):c.867C>A (p.Ile289=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 876455	NM_138959.3(VANGL1):c.312G>C (p.Gly104=)	VANGL1	Single nucleotide variant (synonymous variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 875842	NM_138959.3(VANGL1):c.*4788C>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GBenign/Likely benign
Select item 875788	NM_138959.3(VANGL1):c.*3653C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GBenign/Likely benign
Select item 875787	NM_138959.3(VANGL1):c.*3608C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GConflicting classifications of pathogenicity
Select item 875786	NM_138959.3(VANGL1):c.*3559G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 875743	NM_138959.3(VANGL1):c.*2961T>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 875742	NM_138959.3(VANGL1):c.*2917G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 875644	NM_138959.3(VANGL1):c.*1492G>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 875643	NM_138959.3(VANGL1):c.*1492G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 875537	NM_138959.3(VANGL1):c.*25A>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 875536	NM_138959.3(VANGL1):c.1529A>G (p.Lys510Arg)	VANGL1 (K510R +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +2 more	GUncertain significance
Select item 875535	NM_138959.3(VANGL1):c.1491T>G (p.Ile497Met)	VANGL1 (I495M +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +1 more	GUncertain significance
Select item 875534	NM_138959.3(VANGL1):c.1299C>T (p.Asn433=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 875487	NM_138959.3(VANGL1):c.759G>C (p.Gln253His)	VANGL1 (Q251H +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +2 more	GUncertain significance
Select item 875486	NM_138959.3(VANGL1):c.681G>A (p.Val227=)	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 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 874906	NM_138959.3(VANGL1):c.*4347C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874905	NM_138959.3(VANGL1):c.*4272T>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874904	NM_138959.3(VANGL1):c.*4254A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874853	NM_138959.3(VANGL1):c.*3409T>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 874803	NM_138959.3(VANGL1):c.*2708G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874802	NM_138959.3(VANGL1):c.*2592T>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874758	NM_138959.3(VANGL1):c.*2009C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874702	NM_138959.3(VANGL1):c.*1402C>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874611	NM_138959.3(VANGL1):c.1210G>T (p.Ala404Ser)	VANGL1 (A402S +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +1 more	GUncertain significance
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 874502	NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu)	VANGL1 (S33L)	Single nucleotide variant (missense variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
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 874500	NM_138959.3(VANGL1):c.51G>A (p.Ser17=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 874453	NM_138959.3(VANGL1):c.-239G>A	VANGL1	Single nucleotide variant (5 prime UTR variant)	Neural tube defect +1 more	GBenign/Likely benign
Select item 874141	NM_138959.3(VANGL1):c.*6837A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 874140	NM_138959.3(VANGL1):c.*6794C>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874026	NM_138959.3(VANGL1):c.*5036G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873969	NM_138959.3(VANGL1):c.*4209A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873968	NM_138959.3(VANGL1):c.*4041T>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873967	NM_138959.3(VANGL1):c.*3844A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873966	NM_138959.3(VANGL1):c.*3742A>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 873907	NM_138959.3(VANGL1):c.*3290A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873906	NM_138959.3(VANGL1):c.*3273A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873905	NM_138959.3(VANGL1):c.*3267C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873852	NM_138959.3(VANGL1):c.*2504A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873797	NM_138959.3(VANGL1):c.*1748C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873746	NM_138959.3(VANGL1):c.*922C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 873745	NM_138959.3(VANGL1):c.*801A>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873670	NM_138959.3(VANGL1):c.*234A>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873669	NM_138959.3(VANGL1):c.*229T>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 873611	NM_138959.3(VANGL1):c.1050T>C (p.His350=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 873610	NM_138959.3(VANGL1):c.1023C>T (p.Asn341=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 873609	NM_138959.3(VANGL1):c.868T>C (p.Tyr290His)	VANGL1 (Y288H +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 873558	NM_138959.3(VANGL1):c.453G>A (p.Gly151=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +1 more	GUncertain significance
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 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 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 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 720994	NM_138959.3(VANGL1):c.345C>T (p.Val115=)	VANGL1	Single nucleotide variant (synonymous variant)	Neural tube defect +2 more	GBenign/Likely benign
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 445589	NM_138959.3(VANGL1):c.274A>G (p.Ile92Val)	VANGL1 (I92V +1 more)	Single nucleotide variant (missense variant)	VANGL1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 292112	NM_138959.3(VANGL1):c.*6721A>G	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GBenign/Likely benign
Select item 292111	NM_138959.3(VANGL1):c.*6640G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 292110	NM_138959.3(VANGL1):c.*6602C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 292109	NM_138959.3(VANGL1):c.*6474T>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 292108	NM_138959.3(VANGL1):c.*6360C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 292107	NM_138959.3(VANGL1):c.*6321T>G	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +2 more	GBenign/Likely benign
Select item 292106	NM_138959.3(VANGL1):c.*6212C>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GBenign/Likely benign
Select item 292105	NM_138959.3(VANGL1):c.*6199A>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GBenign/Likely benign
Select item 292104	NM_138959.3(VANGL1):c.*6128T>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 292103	NM_138959.3(VANGL1):c.*6084C>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 292102	NM_138959.3(VANGL1):c.*6026G>A	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +2 more	GBenign/Likely benign
Select item 292101	NM_138959.3(VANGL1):c.*5995A>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +2 more	GBenign/Likely benign
Select item 292100	NM_138959.3(VANGL1):c.*5993C>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 292099	NM_138959.3(VANGL1):c.*5929G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 292098	NM_138959.3(VANGL1):c.*5862G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 292097	NM_138959.3(VANGL1):c.*5841A>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +2 more	GBenign/Likely benign
Select item 292096	NM_138959.3(VANGL1):c.*5808C>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GConflicting classifications of pathogenicity
Select item 292095	NM_138959.3(VANGL1):c.*5751A>G	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +2 more	GBenign/Likely benign
Select item 292093	NM_138959.3(VANGL1):c.*5633T>G	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GBenign/Likely benign
Select item 292092	NM_138959.3(VANGL1):c.*5466G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GConflicting classifications of pathogenicity
Select item 292091	NM_138959.3(VANGL1):c.*5444C>G	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GBenign/Likely benign
Select item 292089	NM_138959.3(VANGL1):c.*5413A>C	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance
Select item 292088	NM_138959.3(VANGL1):c.*5368G>A	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GBenign/Likely benign
Select item 292087	NM_138959.3(VANGL1):c.*5351G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GUncertain significance
Select item 292086	NM_138959.3(VANGL1):c.*5267G>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +1 more	GUncertain significance
Select item 292085	NM_138959.3(VANGL1):c.*5267G>A	VANGL1	Single nucleotide variant (3 prime UTR variant)	Sacral defect with anterior meningocele +2 more	GConflicting classifications of pathogenicity
Select item 292084	NM_138959.3(VANGL1):c.*5266C>T	CASQ2, VANGL1	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GBenign/Likely benign
Select item 292083	NM_138959.3(VANGL1):c.*5132G>T	VANGL1	Single nucleotide variant (3 prime UTR variant)	Neural tube defect +1 more	GUncertain significance

<< First< Prev

Page of 2