ClinVar for MedGen (Select 10617) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1676661	NM_002296.4(LBR):c.235C>T (p.Arg79Ter)	LBR (R79*)	Single nucleotide variant	Pelger-Huët anomaly	GLikely pathogenic
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 930347	NM_002296.4(LBR):c.166-12C>T	LBR	Single nucleotide variant (intron variant)	Pelger-Huët anomaly	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 369680	NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)	LBR (R583*)	Single nucleotide variant (nonsense)	Pelger-Huët anomaly +6 more	GConflicting classifications of pathogenicity
Select item 295940	NM_002296.4(LBR):c.843A>G (p.Val281=)	LBR	Single nucleotide variant (synonymous variant)	Reynolds syndrome +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 provided +4 more	GBenign
Select item 100902	NM_002296.4(LBR):c.32_35del (p.Val11fs)	LBR (V11fs)	Deletion (frameshift variant)	Pelger-Huët anomaly +1 more	GPathogenic
Select item 100900	NM_002296.4(LBR):c.1639A>G (p.Asn547Asp)	LBR (N547D)	Single nucleotide variant (missense variant)	Pelger-Huët anomaly +1 more	GPathogenic/Likely pathogenic
Select item 9532	NM_002296.4(LBR):c.1706C>G (p.Pro569Arg)	LBR (P569R)	Single nucleotide variant (missense variant)	Pelger-Huët anomaly	GPathogenic
Select item 9531	NM_002296.4(LBR):c.1484-9A>G	LBR	Single nucleotide variant (intron variant)	Pelger-Huët anomaly	GPathogenic
Select item 9530	NM_002296.4(LBR):c.356C>T (p.Pro119Leu)	LBR (P119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9529	NM_002296.4(LBR):c.1599_1605delinsCTAGAAG (p.Leu534_Leu535delinsTer)	LBR	Indel (nonsense)	Pelger-Huët anomaly +1 more	GPathogenic
Select item 9528	NM_002296.4(LBR):c.166-2A>G	LBR	Single nucleotide variant (splice acceptor variant)	Pelger-Huët anomaly	GPathogenic
Select item 9527	NM_002296.4(LBR):c.1565-10_1565-5del	LBR	Microsatellite (intron variant)	Pelger-Huët anomaly +1 more	GPathogenic