"GeneDx"[submitter] AND "LBR"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
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 1055309	NM_002296.4(LBR):c.1826G>A (p.Arg609His)	LBR (R609H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675266	NM_002296.4(LBR):c.1761C>T (p.Asp587=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320971	NM_002296.4(LBR):c.1756C>T (p.Arg586Cys)	LBR (R586C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 419545	NM_002296.4(LBR):c.1748G>T (p.Arg583Leu)	LBR (R583L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1232728	NM_002296.4(LBR):c.1688-270A>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290377	NM_002296.4(LBR):c.1687+213C>A	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253134	NM_002296.4(LBR):c.1687+111G>A	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214988	NM_002296.4(LBR):c.1687+94G>A	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 424332	NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)	LBR (R512Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 586109	NM_002296.4(LBR):c.1528G>A (p.Ala510Thr)	LBR (A510T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 429297	NM_002296.4(LBR):c.1504C>G (p.Arg502Gly)	LBR (R502G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1318125	NM_002296.4(LBR):c.1503C>A (p.Phe501Leu)	LBR (F501L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189954	NM_002296.4(LBR):c.1483+275T>A	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426800	NM_002296.4(LBR):c.1366C>G (p.Leu456Val)	LBR (L456V)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 1179276	NM_002296.4(LBR):c.1315-186C>T	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225790	NM_002296.4(LBR):c.1314+147T>C	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196161	NM_002296.4(LBR):c.1314+133C>T	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 716063	NM_002296.4(LBR):c.1237C>T (p.Arg413Cys)	LBR (R413C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1224301	NM_002296.4(LBR):c.1189-191T>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239470	NM_002296.4(LBR):c.1188+184C>T	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 295935	NM_002296.4(LBR):c.1188+4T>C	LBR	Single nucleotide variant (intron variant)	Greenberg dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1316391	NM_002296.4(LBR):c.1111G>A (p.Gly371Ser)	LBR (G371S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205508	NM_002296.4(LBR):c.1085-260dup	LBR	Duplication (intron variant)	not provided	GLikely benign
Select item 1239395	NM_002296.4(LBR):c.1084+233A>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218541	NM_002296.4(LBR):c.1084+113G>A	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1145493	NM_002296.4(LBR):c.1057C>T (p.Arg353Trp)	LBR (R353W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 586111	NM_002296.4(LBR):c.995C>T (p.Ala332Val)	LBR (A332V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 757427	NM_002296.4(LBR):c.963C>T (p.Tyr321=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 439857	NM_002296.4(LBR):c.927C>T (p.Ile309=)	LBR	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GBenign/Likely benign
Select item 1249708	NM_002296.4(LBR):c.893-20dup	LBR	Duplication (intron variant)	not provided	GBenign
Select item 439855	NM_002296.4(LBR):c.893-5del	LBR	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1238260	NM_002296.4(LBR):c.893-36T>C	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204452	NM_002296.4(LBR):c.893-275G>A	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254600	NM_002296.4(LBR):c.892+157T>A	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218605	NM_002296.4(LBR):c.866G>A (p.Gly289Glu)	LBR (G289E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 295940	NM_002296.4(LBR):c.843A>G (p.Val281=)	LBR	Single nucleotide variant (synonymous variant)	Greenberg dysplasia +6 more	GBenign/Likely benign
Select item 295941	NM_002296.4(LBR):c.838-9dup	LBR	Duplication (intron variant)	Greenberg dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1263342	NM_002296.4(LBR):c.838-69G>A	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257461	NM_002296.4(LBR):c.838-132A>C	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242146	NM_002296.4(LBR):c.837+227T>C	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263227	NM_002296.4(LBR):c.837+71A>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190996	NM_002296.4(LBR):c.640+40G>A	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 795060	NM_002296.4(LBR):c.629G>T (p.Gly210Val)	LBR (G210V)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 721311	NM_002296.4(LBR):c.561C>T (p.Tyr187=)	LBR	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 258619	NM_002296.4(LBR):c.461G>A (p.Ser154Asn)	LBR (S154N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1221197	NM_002296.4(LBR):c.450+31dup	LBR	Duplication (intron variant)	not provided	GBenign
Select item 1218499	NM_002296.4(LBR):c.450+41del	LBR	Deletion (intron variant)	not provided	GLikely benign
Select item 1298004	NM_002296.4(LBR):c.367-78A>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223266	NM_002296.4(LBR):c.367-79A>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211187	NM_002296.4(LBR):c.366+97A>G	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258618	NM_002296.4(LBR):c.366+16C>T	LBR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1712213	NM_002296.4(LBR):c.274A>G (p.Lys92Glu)	LBR (K92E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258617	NM_002296.4(LBR):c.261T>C (p.Pro87=)	LBR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1206764	NM_002296.4(LBR):c.166-38T>C	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287089	NM_002296.4(LBR):c.166-261A>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239803	NM_002296.4(LBR):c.165+282G>C	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258616	NM_002296.4(LBR):c.117G>A (p.Val39=)	LBR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 295949	NM_002296.4(LBR):c.90C>T (p.His30=)	LBR	Single nucleotide variant (synonymous variant)	Greenberg dysplasia +2 more	GBenign/Likely benign
Select item 1201046	NM_002296.4(LBR):c.-14-24A>T	LBR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810884	NM_002296.4(LBR):c.-14-54G>A	LBR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1247977	NM_002296.4(LBR):c.-15+90C>G	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 295956	NM_002296.3(LBR):c.-126C>T	LBR	Single nucleotide variant (intron variant)	Greenberg dysplasia +1 more	GLikely benign
Select item 295958	NM_002296.3(LBR):c.-167C>T	LBR	Single nucleotide variant (intron variant)	Greenberg dysplasia +1 more	GLikely benign
Select item 1251126	NM_194442.3(LBR):c.-15+581G>A	LBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 69