ClinVar for MedGen (Select 1648288) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 424332	NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)	LBR (R512Q)	Single nucleotide variant (missense variant)	Regressive spondylometaphyseal dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 295940	NM_002296.4(LBR):c.843A>G (p.Val281=)	LBR	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 295931	NM_002296.4(LBR):c.1590G>A (p.Thr530=)	LBR	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance

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