ClinVar for MedGen (Select 450547) - ClinVar - NCBI

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Items: 9

	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 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 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 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)	not specified +4 more	GBenign
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 9533	NM_002296.4(LBR):c.1114C>T (p.Arg372Cys)	LBR (R372C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity