BGN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289069	NM_001711.6(BGN):c.-11-325A>G	BGN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276181	NM_001711.6(BGN):c.-11-209G>A	BGN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316494	NM_001711.6(BGN):c.-11-15C>G	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089480	NM_001711.6(BGN):c.4T>C (p.Trp2Arg)	BGN (W2R)	Single nucleotide variant (missense variant)	not provided	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
Select item 2177021	NM_001711.6(BGN):c.16C>T (p.Arg6Cys)	BGN (R6C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033440	NM_001711.6(BGN):c.17G>A (p.Arg6His)	BGN (R6H)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GUncertain significance
Select item 2564953	NM_001711.6(BGN):c.18C>T (p.Arg6=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2630447	NM_001711.6(BGN):c.21C>A (p.Leu7=)	BGN	Single nucleotide variant (synonymous variant)	BGN-related disorder	GUncertain significance
Select item 1930858	NM_001711.6(BGN):c.21C>T (p.Leu7=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445098	NM_001711.6(BGN):c.22G>A (p.Val8Met)	BGN (V8M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1465633	NM_001711.6(BGN):c.26C>T (p.Ser9Phe)	BGN (S9F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808483	NM_001711.6(BGN):c.27T>C (p.Ser9=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094133	NM_001711.6(BGN):c.27T>G (p.Ser9=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2564952	NM_001711.6(BGN):c.28C>T (p.Leu10=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 817331	NM_001711.6(BGN):c.41del (p.Ser14fs)	BGN (S14fs)	Deletion (frameshift variant)	not provided	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 1925100	NM_001711.6(BGN):c.52C>T (p.Pro18Ser)	BGN (P18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3000651	NM_001711.6(BGN):c.65G>C (p.Arg22Thr)	BGN (R22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013933	NM_001711.6(BGN):c.68G>C (p.Gly23Ala)	BGN (G23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224409	NM_001711.6(BGN):c.72C>G (p.Phe24Leu)	BGN (F24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1490325	NM_001711.6(BGN):c.90C>G (p.Asp30Glu)	BGN (D30E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3006069	NM_001711.6(BGN):c.91G>T (p.Asp31Tyr)	BGN (D31Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004629	NM_001711.6(BGN):c.91G>A (p.Asp31Asn)	BGN (D31N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836060	NM_001711.6(BGN):c.95G>C (p.Gly32Ala)	BGN (G32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367603	NM_001711.6(BGN):c.105G>A (p.Met35Ile)	BGN (M35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018514	NM_001711.6(BGN):c.108G>A (p.Met36Ile)	BGN (M36I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774542	NM_001711.6(BGN):c.111C>T (p.Asn37=)	BGN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 3221766	NM_001711.6(BGN):c.117G>C (p.Glu39Asp)	BGN (E39D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2977681	NM_001711.6(BGN):c.117G>A (p.Glu39=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2564956	NM_001711.6(BGN):c.118G>C (p.Glu40Gln)	BGN (E40Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 716261	NM_001711.6(BGN):c.120A>G (p.Glu40=)	BGN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1901665	NM_001711.6(BGN):c.121G>T (p.Ala41Ser)	BGN (A41S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1762726	NM_001711.6(BGN):c.125C>T (p.Ser42Leu)	BGN (S42L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 746978	NM_001711.6(BGN):c.126G>A (p.Ser42=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1769305	NM_001711.6(BGN):c.129C>A (p.Gly43=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1914426	NM_001711.6(BGN):c.130G>A (p.Ala44Thr)	BGN (A44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1080916	NM_001711.6(BGN):c.138C>A (p.Thr46=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1772891	NM_001711.6(BGN):c.144C>T (p.Gly48=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1339642	NM_001711.6(BGN):c.144C>A (p.Gly48=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1775484	NM_001711.6(BGN):c.156G>A (p.Pro52=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2998343	NM_001711.6(BGN):c.159C>T (p.Asp53=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469467	NM_001711.6(BGN):c.163G>C (p.Val55Leu)	BGN (V55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443583	NM_001711.6(BGN):c.167C>T (p.Thr56Ile)	BGN (T56I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2419206	NM_001711.6(BGN):c.169C>G (p.Pro57Ala)	BGN (P57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492998	NM_001711.6(BGN):c.173C>A (p.Thr58Asn)	BGN (T58N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1557908	NM_001711.6(BGN):c.174C>T (p.Thr58=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987621	NM_001711.6(BGN):c.180C>T (p.Ser60=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1051496	NM_001711.6(BGN):c.181G>A (p.Ala61Thr)	BGN (A61T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2888271	NM_001711.6(BGN):c.186G>A (p.Met62Ile)	BGN (M62I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006855	NM_001711.6(BGN):c.195C>T (p.Phe65=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799744	NM_001711.6(BGN):c.196G>T (p.Gly66Cys)	BGN (G66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2995179	NM_001711.6(BGN):c.204C>T (p.His68=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1786715	NM_001711.6(BGN):c.214C>T (p.Arg72Trp)	BGN (R72W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1786709	NM_001711.6(BGN):c.214C>A (p.Arg72=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 737460	NM_001711.6(BGN):c.222T>C (p.Val74=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 1993300	NM_001711.6(BGN):c.225G>C (p.Gln75His)	BGN (Q75H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628425	NM_001711.6(BGN):c.231C>T (p.Ser77=)	BGN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1038905	NM_001711.6(BGN):c.232G>A (p.Asp78Asn)	BGN (D78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496309	NM_001711.6(BGN):c.234C>A (p.Asp78Glu)	BGN (D78E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380642	NM_001711.6(BGN):c.237G>A (p.Leu79=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
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 2057473	NM_001711.6(BGN):c.238+7C>T	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2191677	NM_001711.6(BGN):c.238+8C>T	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608923	NM_001711.6(BGN):c.238+13G>C	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949568	NM_001711.6(BGN):c.238+17T>C	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279317	NM_001711.6(BGN):c.238+51G>A	BGN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192382	NM_001711.6(BGN):c.238+75A>G	BGN	Single nucleotide variant (intron variant)	Meester-Loeys syndrome +2 more	GBenign
Select item 1235968	NM_001711.6(BGN):c.238+135G>A	BGN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317723	NM_001711.6(BGN):c.239-153C>T	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291145	NM_001711.6(BGN):c.239-38T>C	BGN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3005727	NM_001711.6(BGN):c.239-15G>A	BGN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1948554	NM_001711.6(BGN):c.239-13G>T	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937826	NM_001711.6(BGN):c.239-11G>T	BGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946995	NM_001711.6(BGN):c.239G>A (p.Gly80Asp)	BGN (G80D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1363690	NM_001711.6(BGN):c.246G>C (p.Lys82Asn)	BGN (K82N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350083	NM_001711.6(BGN):c.250G>T (p.Val84Leu)	BGN (V84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098726	NM_001711.6(BGN):c.257A>G (p.Lys86Arg)	BGN (K86R)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2298749	NM_001711.6(BGN):c.266C>T (p.Ser89Phe)	BGN (S89F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1533914	NM_001711.6(BGN):c.273C>T (p.Asp91=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498277	NM_001711.6(BGN):c.275C>A (p.Thr92Asn)	BGN (T92N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1796020	NM_001711.6(BGN):c.278C>T (p.Thr93Met)	BGN (T93M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636636	NM_001711.6(BGN):c.278C>G (p.Thr93Arg)	BGN (T93R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032025	NM_001711.6(BGN):c.291G>A (p.Leu97=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046005	NM_001711.6(BGN):c.293A>G (p.Gln98Arg)	BGN (Q98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125407	NM_001711.6(BGN):c.300C>T (p.Asn100=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387894	NM_001711.6(BGN):c.301G>A (p.Asp101Asn)	BGN (D101N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3221767	NM_001711.6(BGN):c.306C>T (p.Ile102=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2983148	NM_001711.6(BGN):c.309C>T (p.Ser103=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780741	NM_001711.6(BGN):c.310G>A (p.Glu104Lys)	BGN (E104K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1727949	NM_001711.6(BGN):c.312G>C (p.Glu104Asp)	BGN (E104D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2869764	NM_001711.6(BGN):c.315C>T (p.Leu105=)	BGN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986625	NM_001711.6(BGN):c.317G>T (p.Arg106Leu)	BGN (R106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191385	NM_001711.6(BGN):c.317G>A (p.Arg106His)	BGN (R106H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2450209	NM_001711.6(BGN):c.322G>A (p.Asp108Asn)	BGN (D108N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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