"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 930347	NM_002296.4(LBR):c.166-12C>T	LBR	Single nucleotide variant (intron variant)	Pelger-Huët anomaly	GUncertain significance

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