"Ambry Genetics"[submitter] AND "BGN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033440	NM_001711.6(BGN):c.17G>A (p.Arg6His)	BGN (R6H)	Single nucleotide variant (missense variant)	not provided +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 1445098	NM_001711.6(BGN):c.22G>A (p.Val8Met)	BGN (V8M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2564952	NM_001711.6(BGN):c.28C>T (p.Leu10=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1367603	NM_001711.6(BGN):c.105G>A (p.Met35Ile)	BGN (M35I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 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 +2 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)	not provided +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 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 3260841	NM_001711.6(BGN):c.145G>A (p.Val49Ile)	BGN (V49I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1775484	NM_001711.6(BGN):c.156G>A (p.Pro52=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1443583	NM_001711.6(BGN):c.167C>T (p.Thr56Ile)	BGN (T56I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1051496	NM_001711.6(BGN):c.181G>A (p.Ala61Thr)	BGN (A61T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3260836	NM_001711.6(BGN):c.184A>T (p.Met62Leu)	BGN (M62L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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)	not provided +1 more	GLikely benign
Select item 1628425	NM_001711.6(BGN):c.231C>T (p.Ser77=)	BGN	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1496309	NM_001711.6(BGN):c.234C>A (p.Asp78Glu)	BGN (D78E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 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 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 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 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 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 780741	NM_001711.6(BGN):c.310G>A (p.Glu104Lys)	BGN (E104K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1727949	NM_001711.6(BGN):c.312G>C (p.Glu104Asp)	BGN (E104D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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
Select item 1730172	NM_001711.6(BGN):c.331A>G (p.Lys111Glu)	BGN (K111E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2069112	NM_001711.6(BGN):c.333G>C (p.Lys111Asn)	BGN (K111N)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1731447	NM_001711.6(BGN):c.343C>A (p.His115Asn)	BGN (H115N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 714030	NM_001711.6(BGN):c.357C>T (p.Leu119=)	BGN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3221768	NM_001711.6(BGN):c.368A>G (p.Asn123Ser)	BGN (N123S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1734738	NM_001711.6(BGN):c.376A>G (p.Ile126Val)	BGN (I126V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1653172	NM_001711.6(BGN):c.378C>A (p.Ile126=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1735409	NM_001711.6(BGN):c.383A>T (p.Lys128Met)	BGN (K128M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2168595	NM_001711.6(BGN):c.387C>T (p.Ile129=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2450210	NM_001711.6(BGN):c.393G>T (p.Glu131Asp)	BGN (E131D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1317926	NM_001711.6(BGN):c.413G>A (p.Arg138Gln)	BGN (R138Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1426648	NM_001711.6(BGN):c.416A>T (p.Lys139Met)	BGN (K139M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2564954	NM_001711.6(BGN):c.446A>G (p.His149Arg)	BGN (H149R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1112724	NM_001711.6(BGN):c.447C>T (p.His149=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1582825	NM_001711.6(BGN):c.462G>A (p.Pro154=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1742709	NM_001711.6(BGN):c.472C>T (p.Pro158Ser)	BGN (P158S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1744563	NM_001711.6(BGN):c.498C>A (p.Ile166=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1744811	NM_001711.6(BGN):c.501C>T (p.His167=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1176606	NM_001711.6(BGN):c.508C>T (p.Arg170Cys)	BGN (R170C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1473836	NM_001711.6(BGN):c.509G>A (p.Arg170His)	BGN (R170H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2450208	NM_001711.6(BGN):c.511A>G (p.Ile171Val)	BGN (I171V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1408364	NM_001711.6(BGN):c.514C>T (p.Arg172Cys)	BGN (R172C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1063919	NM_001711.6(BGN):c.515G>A (p.Arg172His)	BGN (R172H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1746543	NM_001711.6(BGN):c.527A>C (p.Lys176Thr)	BGN (K176T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2626583	NM_001711.6(BGN):c.532G>A (p.Val178Met)	BGN (V178M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3260843	NM_001711.6(BGN):c.538A>G (p.Ser180Gly)	BGN (S180G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1448551	NM_001711.6(BGN):c.548G>A (p.Arg183Gln)	BGN (R183Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1748126	NM_001711.6(BGN):c.552C>T (p.Asn184=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1167739	NM_001711.6(BGN):c.564C>T (p.Ile188=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign
Select item 717871	NM_001711.6(BGN):c.573C>T (p.Gly191=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 3260835	NM_001711.6(BGN):c.590A>G (p.Asn197Ser)	BGN (N197S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751773	NM_001711.6(BGN):c.612C>T (p.Ala204=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1536956	NM_001711.6(BGN):c.615C>T (p.Phe205=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2292035	NM_001711.6(BGN):c.616G>A (p.Asp206Asn)	BGN (D206N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1752210	NM_001711.6(BGN):c.620G>C (p.Gly207Ala)	BGN (G207A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3260840	NM_001711.6(BGN):c.641G>A (p.Arg214His)	BGN (R214H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1754102	NM_001711.6(BGN):c.653C>T (p.Ala218Val)	BGN (A218V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3260838	NM_001711.6(BGN):c.671C>G (p.Pro224Arg)	BGN (P224R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755605	NM_001711.6(BGN):c.681C>G (p.Leu227=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1317125	NM_001711.6(BGN):c.729C>T (p.Ala243=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1758239	NM_001711.6(BGN):c.730A>G (p.Ile244Val)	BGN (I244V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1650223	NM_001711.6(BGN):c.732C>T (p.Ile244=)	BGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1758484	NM_001711.6(BGN):c.735A>G (p.Glu245=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2626582	NM_001711.6(BGN):c.737T>C (p.Leu246Pro)	BGN (L246P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2145578	NM_001711.6(BGN):c.752G>A (p.Arg251His)	BGN (R251H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1759885	NM_001711.6(BGN):c.762G>A (p.Lys254=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2309125	NM_001711.6(BGN):c.782G>A (p.Gly261Asp)	BGN (G261D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760838	NM_001711.6(BGN):c.783C>G (p.Gly261=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1317581	NM_001711.6(BGN):c.793A>G (p.Ile265Val)	BGN (I265V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3260837	NM_001711.6(BGN):c.797G>C (p.Arg266Thr)	BGN (R266T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1761786	NM_001711.6(BGN):c.804C>A (p.Ile268=)	BGN	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1341655	NM_001711.6(BGN):c.807G>A (p.Glu269=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1402824	NM_001711.6(BGN):c.812G>A (p.Gly271Glu)	BGN (G271E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1762731	NM_001711.6(BGN):c.827T>G (p.Leu276Arg)	BGN (L276R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3221769	NM_001711.6(BGN):c.833C>G (p.Thr278Ser)	BGN (T278S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1444541	NM_001711.6(BGN):c.838C>T (p.Arg280Trp)	BGN (R280W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3221770	NM_001711.6(BGN):c.849C>T (p.His283=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221771	NM_001711.6(BGN):c.854A>G (p.Asp285Gly)	BGN (D285G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3260842	NM_001711.6(BGN):c.884G>A (p.Gly295Glu)	BGN (G295E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1550272	NM_001711.6(BGN):c.891A>G (p.Pro297=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign

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