ClinVar for MedGen (Select 766801) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3595464	NM_006129.5(BMP1):c.2288G>A (p.Trp763Ter)	BMP1 (W763*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 13	GLikely pathogenic
Select item 3595463	NM_006129.5(BMP1):c.2029C>T (p.Gln677Ter)	BMP1 (Q677*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 13	GLikely pathogenic
Select item 3595462	NM_006129.5(BMP1):c.1130dup (p.Tyr377Ter)	BMP1 (Y377*)	Duplication (nonsense +1 more)	Osteogenesis imperfecta type 13	GLikely pathogenic
Select item 3362740	NM_006129.5(BMP1):c.925G>A (p.Asp309Asn)	BMP1 (D309N)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 3003541	NM_006129.5(BMP1):c.549C>A (p.Cys183Ter)	BMP1 (C183*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 13 +1 more	GPathogenic/Likely pathogenic
Select item 2885627	NM_006129.5(BMP1):c.2424C>T (p.Phe808=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 2735141	NM_001199.4(BMP1):c.2188dup (p.Gln730fs)	BMP1 (Q730fs)	Duplication (frameshift variant +2 more)	Osteogenesis imperfecta type 13 +2 more	GPathogenic
Select item 2207884	NM_006129.5(BMP1):c.2569G>A (p.Ala857Thr)	BMP1 (A857T)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 1801721	NM_006129.5(BMP1):c.820C>G (p.Arg274Gly)	BMP1 (R274G)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 1446051	NM_006129.5(BMP1):c.2593C>T (p.Arg865Trp)	BMP1 (R865W)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +2 more	GUncertain significance
Select item 1445283	NM_006129.5(BMP1):c.1184G>T (p.Arg395Leu)	BMP1 (R395L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GUncertain significance
Select item 1385920	NM_006129.5(BMP1):c.2455G>A (p.Gly819Ser)	BMP1 (G819S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1385566	NM_006129.5(BMP1):c.2446C>G (p.Pro816Ala)	BMP1 (P816A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1351146	NM_006129.5(BMP1):c.799G>A (p.Asp267Asn)	BMP1 (D267N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1346595	NM_006129.5(BMP1):c.2519G>A (p.Arg840His)	BMP1 (R840H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1299300	NM_006129.5(BMP1):c.584dup (p.Gln197fs)	BMP1 (Q197fs)	Duplication (frameshift variant +1 more)	Osteogenesis imperfecta +1 more	GPathogenic
Select item 1299299	NM_006129.5(BMP1):c.965G>A (p.Cys322Tyr)	BMP1 (C322Y)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GLikely pathogenic
Select item 1236182	NM_001199.4(BMP1):c.2191T>C (p.Ter731Arg)	BMP1	Single nucleotide variant (stop lost +2 more)	Osteogenesis imperfecta type 13	GLikely pathogenic
Select item 1033073	NM_006129.5(BMP1):c.962-18C>G	BMP1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 1033072	NM_006129.5(BMP1):c.1081A>T (p.Ile361Phe)	BMP1 (I361F)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 1031022	NM_006129.5(BMP1):c.2543A>G (p.Gln848Arg)	BMP1 (Q848R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 911652	NM_006129.5(BMP1):c.*339T>C	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 911651	NM_006129.5(BMP1):c.*328T>C	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GLikely benign
Select item 911650	NM_006129.5(BMP1):c.*223C>T	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GLikely benign
Select item 911587	NM_006129.5(BMP1):c.2321C>T (p.Thr774Met)	BMP1 (T774M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GUncertain significance
Select item 911586	NM_006129.5(BMP1):c.2166C>T (p.Phe722=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911525	NM_006129.5(BMP1):c.837-5T>C	BMP1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 911524	NM_006129.5(BMP1):c.455G>A (p.Arg152Gln)	BMP1 (R152Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 911523	NM_006129.5(BMP1):c.204A>G (p.Val68=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910426	NM_006129.5(BMP1):c.*208G>T	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 910425	NM_006129.5(BMP1):c.*172A>C	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 910424	NM_006129.5(BMP1):c.*121C>G	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 910423	NM_006129.5(BMP1):c.*44G>C	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GLikely benign
Select item 910422	NM_006129.5(BMP1):c.*22G>A	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GBenign/Likely benign
Select item 910377	NM_006129.5(BMP1):c.2045G>A (p.Arg682His)	BMP1 (R682H)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 910376	NM_006129.5(BMP1):c.1927-13G>A	BMP1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 910375	NM_006129.5(BMP1):c.1868C>T (p.Ala623Val)	BMP1 (A623V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 910374	NM_006129.5(BMP1):c.1804A>G (p.Ile602Val)	BMP1 (I602V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +2 more	GConflicting classifications of pathogenicity
Select item 909492	NM_006129.5(BMP1):c.2751C>T (p.Cys917=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 909491	NM_006129.5(BMP1):c.2730G>A (p.Glu910=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 909425	NM_006129.5(BMP1):c.1678G>A (p.Glu560Lys)	BMP1, LOC113788269 (E560K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 909424	NM_006129.5(BMP1):c.1639+5C>T	BMP1, LOC113788269	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 909423	NM_006129.5(BMP1):c.1522C>T (p.Arg508Cys)	BMP1, LOC113788269 (R508C)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 908702	NM_006129.4(BMP1):c.*601T>C	BMP1	Single nucleotide variant	Osteogenesis imperfecta type 13	GUncertain significance
Select item 908701	NM_006129.5(BMP1):c.*525G>T	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 908700	NM_006129.5(BMP1):c.*503G>A	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 908637	NM_006129.5(BMP1):c.2575+12G>A	BMP1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 908636	NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr)	BMP1 (A813T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 908568	NM_006129.5(BMP1):c.1297+14C>T	BMP1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13 +1 more	GBenign
Select item 908567	NM_006129.5(BMP1):c.1044C>T (p.Cys348=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 908566	NM_006129.5(BMP1):c.941G>A (p.Arg314His)	BMP1 (R314H)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +2 more	GBenign/Likely benign
Select item 799728	NM_006129.5(BMP1):c.1938C>T (p.Tyr646=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 793400	NM_006129.5(BMP1):c.2487C>A (p.Pro829=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 764850	NM_006129.5(BMP1):c.2700C>T (p.Tyr900=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 748146	NM_006129.5(BMP1):c.2847G>A (p.Ser949=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +2 more	GConflicting classifications of pathogenicity
Select item 716959	NM_006129.5(BMP1):c.2154C>T (p.Cys718=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 716388	NM_006129.5(BMP1):c.879C>T (p.Asn293=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 675150	NM_006129.5(BMP1):c.2827-89C>T	BMP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674968	NM_006129.5(BMP1):c.1765+23T>C	BMP1, LOC113788269	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13 +1 more	GBenign
Select item 674720	NM_006129.5(BMP1):c.2576-103C>T	BMP1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13 +1 more	GBenign
Select item 516549	NM_006129.5(BMP1):c.2234-12G>A	BMP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 498501	NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser)	BMP1 (G712S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 445850	NM_006129.5(BMP1):c.2234-20C>T	BMP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 362614	NM_006129.5(BMP1):c.*513A>G	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362613	NM_006129.5(BMP1):c.*452A>C	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 362612	NM_006129.5(BMP1):c.*444C>T	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GLikely benign
Select item 362611	NM_006129.5(BMP1):c.*350C>T	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 362610	NM_006129.5(BMP1):c.*333G>A	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362609	NM_006129.5(BMP1):c.*325C>G	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362608	NM_006129.5(BMP1):c.*275G>A	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362607	NM_006129.5(BMP1):c.*145T>C	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 362606	NM_006129.5(BMP1):c.*108A>C	BMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 362605	NM_006129.5(BMP1):c.2803C>T (p.Leu935=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362604	NM_006129.5(BMP1):c.2724C>T (p.Thr908=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 362603	NM_006129.5(BMP1):c.2688C>T (p.Ala896=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 362602	NM_006129.5(BMP1):c.2640C>A (p.Gly880=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 362601	NM_006129.5(BMP1):c.2622C>T (p.Tyr874=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362600	NM_006129.5(BMP1):c.2594G>A (p.Arg865Gln)	BMP1 (R865Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 362599	NM_006129.5(BMP1):c.2575+14T>C	BMP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 362598	NM_006129.5(BMP1):c.2450T>C (p.Val817Ala)	BMP1 (V817A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 362597	NM_006129.5(BMP1):c.2445C>T (p.Ala815=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362596	NM_006129.5(BMP1):c.2430G>T (p.Gly810=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362595	NM_006129.5(BMP1):c.2429G>A (p.Gly810Glu)	BMP1 (G810E)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362594	NM_006129.5(BMP1):c.2406C>T (p.Tyr802=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362593	NM_006129.5(BMP1):c.2205C>G (p.Leu735=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 362592	NM_006129.5(BMP1):c.2155G>A (p.Val719Ile)	BMP1 (V719I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 362591	NM_006129.5(BMP1):c.2115C>T (p.Asp705=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 362590	NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe)	BMP1 (S692F)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 362589	NM_006129.5(BMP1):c.1770T>C (p.Ala590=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +2 more	GBenign
Select item 362588	NM_006129.5(BMP1):c.1766-5C>T	BMP1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +3 more	GBenign
Select item 362587	NM_006129.5(BMP1):c.1684C>T (p.Arg562Trp)	BMP1, LOC113788269 (R562W)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362586	NM_006129.5(BMP1):c.1624G>A (p.Val542Ile)	BMP1, LOC113788269 (V542I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 362585	NM_006129.5(BMP1):c.1623C>T (p.Ala541=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +2 more	GConflicting classifications of pathogenicity
Select item 362584	NM_006129.5(BMP1):c.1519G>A (p.Gly507Arg)	BMP1, LOC113788269 (G507R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362583	NM_006129.5(BMP1):c.1443+12G>C	LOC113788269, BMP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 362582	NM_006129.5(BMP1):c.1317G>A (p.Val439=)	LOC113788269, BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GConflicting classifications of pathogenicity
Select item 362581	NM_006129.5(BMP1):c.1178G>A (p.Arg393Gln)	BMP1 (R393Q)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 362580	NM_006129.5(BMP1):c.1112G>A (p.Arg371His)	BMP1 (R371H)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +3 more	GBenign/Likely benign
Select item 362579	NM_006129.5(BMP1):c.433+12A>G	BMP1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 13 +2 more	GBenign/Likely benign
Select item 362578	NM_006129.5(BMP1):c.421G>A (p.Gly141Arg)	BMP1 (G141R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +1 more	GUncertain significance

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