ClinVar for MedGen (Select 418969) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2599968	NM_002296.4(LBR):c.1127C>G (p.Pro376Arg)	LBR (P376R)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 1702452	NM_002296.4(LBR):c.991C>T (p.Leu331Phe)	LBR (L331F)	Single nucleotide variant (missense variant)	Greenberg dysplasia +2 more	GUncertain significance
Select item 1620500	NM_002296.4(LBR):c.1315-13T>C	LBR	Single nucleotide variant (intron variant)	Regressive spondylometaphyseal dysplasia +4 more	GLikely benign
Select item 1433839	NM_002296.4(LBR):c.284G>A (p.Arg95His)	LBR (R95H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1414465	NM_002296.4(LBR):c.860T>C (p.Ile287Thr)	LBR (I287T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1339425	NM_002296.4(LBR):c.1379A>G (p.Asp460Gly)	LBR (D460G)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GPathogenic
Select item 1339424	NM_002296.4(LBR):c.366+1G>T	LBR	Single nucleotide variant (splice donor variant)	Greenberg dysplasia	GPathogenic
Select item 877058	NM_002296.4(LBR):c.287G>A (p.Arg96Gln)	LBR (R96Q)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 877057	NM_002296.4(LBR):c.353C>T (p.Thr118Ile)	LBR (T118I)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 877056	NM_002296.4(LBR):c.357G>A (p.Pro119=)	LBR	Single nucleotide variant (synonymous variant)	Greenberg dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 877055	NM_002296.4(LBR):c.371C>A (p.Pro124Gln)	LBR (P124Q)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 877009	NM_002296.4(LBR):c.1217C>G (p.Ala406Gly)	LBR (A406G)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 877008	NM_002296.4(LBR):c.1238G>A (p.Arg413His)	LBR (R413H)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 876960	NM_002296.4(LBR):c.*1498T>C	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 876959	NM_002296.4(LBR):c.*1586G>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 876958	NM_002296.4(LBR):c.*1595A>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 876957	NM_002296.4(LBR):c.*1769A>T	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 876956	NM_002296.4(LBR):c.*1800C>T	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 876104	NM_002296.4(LBR):c.562G>A (p.Val188Ile)	LBR (V188I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 876103	NM_002296.4(LBR):c.575T>G (p.Leu192Arg)	LBR (L192R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 876102	NM_002296.4(LBR):c.655A>G (p.Met219Val)	LBR (M219V)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 876101	NM_002296.4(LBR):c.730C>T (p.Pro244Ser)	LBR (P244S)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 876044	NM_002296.4(LBR):c.1561G>A (p.Ala521Thr)	LBR (A521T)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 876043	NM_002296.4(LBR):c.1561G>T (p.Ala521Ser)	LBR (A521S)	Single nucleotide variant (missense variant)	Greenberg dysplasia +2 more	GUncertain significance
Select item 876042	NM_002296.4(LBR):c.1793C>T (p.Ala598Val)	LBR (A598V)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 875204	NM_002296.4(LBR):c.-65G>A	LBR	Single nucleotide variant (5 prime UTR variant +1 more)	Greenberg dysplasia	GUncertain significance
Select item 875203	NM_002296.4(LBR):c.-15+14C>T	LBR	Single nucleotide variant (intron variant)	Greenberg dysplasia	GUncertain significance
Select item 875143	NM_002296.4(LBR):c.743C>T (p.Pro248Leu)	LBR (P248L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 875142	NM_002296.4(LBR):c.838-5T>C	LBR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875097	NM_002296.4(LBR):c.1814G>A (p.Arg605His)	LBR (R605H)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 875096	NM_002296.4(LBR):c.*27C>T	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 875095	NM_002296.4(LBR):c.*33C>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 875094	NM_002296.4(LBR):c.*362T>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 874269	NM_002296.4(LBR):c.254G>A (p.Arg85Gln)	LBR (R85Q)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 874222	NM_002296.4(LBR):c.1034A>G (p.Tyr345Cys)	LBR (Y345C)	Single nucleotide variant (missense variant)	Regressive spondylometaphyseal dysplasia +2 more	GUncertain significance
Select item 874221	NM_002296.4(LBR):c.1115G>A (p.Arg372His)	LBR (R372H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 874168	NM_002296.4(LBR):c.*1201A>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 748574	NM_002296.4(LBR):c.271C>T (p.Pro91Ser)	LBR (P91S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 742934	NM_002296.4(LBR):c.893-4A>T	LBR	Single nucleotide variant (intron variant)	Greenberg dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 737739	NM_002296.4(LBR):c.367-7A>T	LBR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 736744	NM_002296.4(LBR):c.1315-8C>T	LBR	Single nucleotide variant (intron variant)	Greenberg dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 732559	NM_002296.4(LBR):c.1315-10A>G	LBR	Single nucleotide variant (intron variant)	LBR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 730151	NM_002296.4(LBR):c.1289A>G (p.Tyr430Cys)	LBR (Y430C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725544	NM_002296.4(LBR):c.312C>T (p.Ala104=)	LBR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 715943	NM_002296.4(LBR):c.931A>G (p.Thr311Ala)	LBR (T311A)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 710682	NM_002296.4(LBR):c.819C>T (p.Tyr273=)	LBR	Single nucleotide variant (synonymous variant)	Greenberg dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 586109	NM_002296.4(LBR):c.1528G>A (p.Ala510Thr)	LBR (A510T)	Single nucleotide variant (missense variant)	Greenberg dysplasia +2 more	GBenign/Likely benign
Select item 545626	NM_002296.4(LBR):c.1757G>A (p.Arg586His)	LBR (R586H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426800	NM_002296.4(LBR):c.1366C>G (p.Leu456Val)	LBR (L456V)	Single nucleotide variant (missense variant)	Regressive spondylometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 295959	NM_002296.3(LBR):c.-169G>A	LBR	Single nucleotide variant (intron variant)	Greenberg dysplasia	GUncertain significance
Select item 295958	NM_002296.3(LBR):c.-167C>T	LBR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 295957	NM_002296.3(LBR):c.-162G>A	LBR	Single nucleotide variant (intron variant)	Greenberg dysplasia	GUncertain significance
Select item 295956	NM_002296.3(LBR):c.-126C>T	LBR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 295955	NM_002296.4(LBR):c.-71G>C	LBR	Single nucleotide variant (5 prime UTR variant +1 more)	Greenberg dysplasia	GUncertain significance
Select item 295954	NM_002296.4(LBR):c.-66T>C	LBR	Single nucleotide variant (5 prime UTR variant +1 more)	Greenberg dysplasia	GUncertain significance
Select item 295953	NM_002296.4(LBR):c.-41C>G	LBR	Single nucleotide variant (5 prime UTR variant +1 more)	Greenberg dysplasia	GUncertain significance
Select item 295952	NM_002296.4(LBR):c.-39G>C	LBR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 295951	NM_002296.4(LBR):c.-33C>A	LBR	Single nucleotide variant (5 prime UTR variant +1 more)	Greenberg dysplasia	GLikely benign
Select item 295950	NM_002296.4(LBR):c.21C>T (p.Ala7=)	LBR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 295949	NM_002296.4(LBR):c.90C>T (p.His30=)	LBR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 295948	NM_002296.4(LBR):c.97A>G (p.Thr33Ala)	LBR (T33A)	Single nucleotide variant (missense variant)	LBR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 295947	NM_002296.4(LBR):c.206C>T (p.Ser69Phe)	LBR (S69F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 295946	NM_002296.4(LBR):c.396T>C (p.Tyr132=)	LBR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 295945	NM_002296.4(LBR):c.607C>T (p.Arg203Trp)	LBR (R203W)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 295944	NM_002296.4(LBR):c.724A>G (p.Asn242Asp)	LBR (N242D)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 295943	NM_002296.4(LBR):c.746C>A (p.Ala249Asp)	LBR (A249D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 295942	NM_002296.4(LBR):c.790C>T (p.Leu264=)	LBR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 295941	NM_002296.4(LBR):c.838-9dup	LBR	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 295940	NM_002296.4(LBR):c.843A>G (p.Val281=)	LBR	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 295939	NM_002296.4(LBR):c.899A>G (p.Tyr300Cys)	LBR (Y300C)	Single nucleotide variant (missense variant)	LBR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 295938	NM_002296.4(LBR):c.951A>G (p.Val317=)	LBR	Single nucleotide variant (synonymous variant)	Greenberg dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 295937	NM_002296.4(LBR):c.959A>G (p.His320Arg)	LBR (H320R)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GBenign
Select item 295936	NM_002296.4(LBR):c.1071G>A (p.Ser357=)	LBR	Single nucleotide variant (synonymous variant)	Greenberg dysplasia +2 more	GBenign
Select item 295935	NM_002296.4(LBR):c.1188+4T>C	LBR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 295934	NM_002296.4(LBR):c.1324T>C (p.Leu442=)	LBR	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 295933	NM_002296.4(LBR):c.1328C>T (p.Thr443Met)	LBR (T443M)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 295932	NM_002296.4(LBR):c.1471A>G (p.Ile491Val)	LBR (I491V)	Single nucleotide variant (missense variant)	Greenberg dysplasia	GUncertain significance
Select item 295931	NM_002296.4(LBR):c.1590G>A (p.Thr530=)	LBR	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 295930	NM_002296.4(LBR):c.1670C>T (p.Ala557Val)	LBR (A557V)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 295929	NM_002296.4(LBR):c.1828A>G (p.Ile610Val)	LBR (I610V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 295928	NM_002296.4(LBR):c.*255C>G	LBR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 295927	NM_002296.4(LBR):c.*330T>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GBenign
Select item 295926	NM_002296.4(LBR):c.*624T>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295925	NM_002296.4(LBR):c.*656G>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GLikely benign
Select item 295924	NM_002296.4(LBR):c.*686A>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295923	NM_002296.4(LBR):c.*769A>T	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GBenign
Select item 295922	NM_002296.4(LBR):c.*1049C>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295921	NM_002296.4(LBR):c.*1128G>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295920	NM_002296.4(LBR):c.*1200T>C	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295919	NM_002296.4(LBR):c.*1305C>G	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GUncertain significance
Select item 295918	NM_002296.4(LBR):c.*1361T>C	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GBenign
Select item 295917	NM_002296.4(LBR):c.*1532G>A	LBR	Single nucleotide variant (3 prime UTR variant)	Greenberg dysplasia	GBenign
Select item 258619	NM_002296.4(LBR):c.461G>A (p.Ser154Asn)	LBR (S154N)	Single nucleotide variant (missense variant)	Greenberg dysplasia +4 more	GBenign
Select item 258617	NM_002296.4(LBR):c.261T>C (p.Pro87=)	LBR	Single nucleotide variant (synonymous variant)	Greenberg dysplasia +4 more	GBenign
Select item 258616	NM_002296.4(LBR):c.117G>A (p.Val39=)	LBR	Single nucleotide variant (synonymous variant)	Pelger-Huët anomaly +4 more	GBenign
Select item 235704	NM_002296.4(LBR):c.1609T>G (p.Ser537Ala)	LBR (S537A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 224876	NM_002296.4(LBR):c.226C>T (p.Arg76Ter)	LBR (R76*)	Single nucleotide variant (nonsense)	Greenberg dysplasia +1 more	GPathogenic
Select item 224875	NM_002296.4(LBR):c.1640A>G (p.Asn547Ser)	LBR (N547S)	Single nucleotide variant (missense variant)	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 218605	NM_002296.4(LBR):c.866G>A (p.Gly289Glu)	LBR (G289E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 100903	NM_002296.4(LBR):c.1402del (p.Tyr468fs)	LBR (Y468fs)	Deletion (frameshift variant)	Greenberg dysplasia	GPathogenic

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