ClinVar for MedGen (Select 934778) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366963	NM_001711.6(BGN):c.640C>T (p.Arg214Cys)	BGN (R214C)	Single nucleotide variant (missense variant)	Meester-Loeys syndrome +1 more	GUncertain significance
Select item 2663759	NM_001711.6(BGN):c.677-2A>T	BGN	Single nucleotide variant (splice acceptor variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2663758	NM_001711.6(BGN):c.677-2A>G	BGN	Single nucleotide variant (splice acceptor variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2663757	NM_001711.6(BGN):c.565G>A (p.Glu189Lys)	BGN (E189K)	Single nucleotide variant (missense variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2663756	NM_001711.6(BGN):c.441delinsAA (p.Asn148fs)	BGN (N148fs)	Indel (frameshift variant)	Meester-Loeys syndrome	GUncertain significance
Select item 2663755	NM_001711.6(BGN):c.351+1G>A	BGN	Single nucleotide variant (splice donor variant)	Meester-Loeys syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2663754	NM_001711.6(BGN):c.910-1G>A	BGN	Single nucleotide variant (splice acceptor variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2663753	NM_001711.6(BGN):c.46del (p.Ala16fs)	BGN (A16fs)	Deletion (frameshift variant)	Meester-Loeys syndrome	GLikely pathogenic
Select item 2501127	NM_001711.6(BGN):c.75G>A (p.Trp25Ter)	BGN (W25*)	Single nucleotide variant (nonsense)	Familial aortopathy +1 more	GLikely pathogenic
Select item 2093719	NM_001711.6(BGN):c.196G>A (p.Gly66Ser)	BGN (G66S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1805879	NM_001711.6(BGN):c.518A>G (p.Lys173Arg)	BGN (K173R)	Single nucleotide variant (missense variant)	Meester-Loeys syndrome	GUncertain significance
Select item 1699103	NM_001711.6(BGN):c.223C>T (p.Gln75Ter)	BGN (Q75*)	Single nucleotide variant (nonsense)	Meester-Loeys syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1675114	NM_001711.6(BGN):c.955G>A (p.Asp319Asn)	BGN (D319N)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia +1 more	GUncertain significance
Select item 1395584	NM_001711.6(BGN):c.770+1G>A	BGN	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1316894	NM_001711.6(BGN):c.954C>T (p.Asn318=)	BGN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1192384	NM_001711.6(BGN):c.909+115T>C	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 1192383	NM_001711.6(BGN):c.771-32C>T	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 1192382	NM_001711.6(BGN):c.238+75A>G	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 1166521	NM_001711.6(BGN):c.540C>T (p.Ser180=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 1165870	NM_001711.6(BGN):c.141G>A (p.Ser47=)	BGN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1098726	NM_001711.6(BGN):c.257A>G (p.Lys86Arg)	BGN (K86R)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia +4 more	GBenign/Likely benign
Select item 1033442	NM_001711.6(BGN):c.997A>G (p.Asn333Asp)	BGN (N333D)	Single nucleotide variant (missense variant)	Meester-Loeys syndrome	GUncertain significance
Select item 774542	NM_001711.6(BGN):c.111C>T (p.Asn37=)	BGN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 636703	NM_001711.6(BGN):c.59_60insAA (p.Gln21fs)	BGN (Q21fs)	Insertion (frameshift variant)	Meester-Loeys syndrome +1 more	GLikely pathogenic
Select item 265798	NM_001711.6(BGN):c.238G>A (p.Gly80Ser)	BGN (G80S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 265796	BGN, 21-KB DEL (SCV000266570)	ATP2B3, BGN +2 more	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 265795	NM_001711.6(BGN):c.908A>C (p.Gln303Pro)	BGN (Q303P)	Single nucleotide variant (missense variant)	Meester-Loeys syndrome	GUncertain significance
Select item 265794	NM_001711.6(BGN):c.5G>A (p.Trp2Ter)	BGN (W2*)	Single nucleotide variant (nonsense)	Meester-Loeys syndrome	GLikely pathogenic

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Items: 28