C4310811[trait identifier] AND "Centre of Medical Genetics, University - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 265794	NM_001711.6(BGN):c.5G>A (p.Trp2Ter)	BGN (W2*)	Single nucleotide variant (nonsense)	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 636703	NM_001711.6(BGN):c.59_60insAA (p.Gln21fs)	BGN (Q21fs)	Insertion (frameshift variant)	Meester-Loeys syndrome +1 more	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 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 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 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 2663756	NM_001711.6(BGN):c.441delinsAA (p.Asn148fs)	BGN (N148fs)	Indel (frameshift variant)	Meester-Loeys syndrome	GUncertain significance
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 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 1395584	NM_001711.6(BGN):c.770+1G>A	BGN	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
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 2663754	NM_001711.6(BGN):c.910-1G>A	BGN	Single nucleotide variant (splice acceptor variant)	Meester-Loeys syndrome	GLikely pathogenic