ClinVar for MedGen (Select 1788485) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066045	NM_175748.4(UBR7):c.227T>G (p.Leu76Ter)	UBR7 (L76*)	Single nucleotide variant (nonsense)	Li-Campeau syndrome	GLikely pathogenic
Select item 3066044	NM_175748.4(UBR7):c.1207C>T (p.Gln403Ter)	UBR7 (Q252* +1 more)	Single nucleotide variant (nonsense +1 more)	Li-Campeau syndrome	GLikely pathogenic
Select item 3065057	NM_175748.4(UBR7):c.1132G>A (p.Asp378Asn)	UBR7 (D227N +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Campeau syndrome	GUncertain significance
Select item 1339353	NM_175748.4(UBR7):c.166C>T (p.Gln56Ter)	UBR7 (Q56*)	Single nucleotide variant (nonsense)	Li-Campeau syndrome	GLikely pathogenic
Select item 997420	NM_175748.4(UBR7):c.1186-1G>C	UBR7	Single nucleotide variant (splice acceptor variant)	Li-Campeau syndrome	GPathogenic
Select item 997419	NM_175748.4(UBR7):c.618del (p.Glu207fs)	UBR7 (E207fs)	Deletion (frameshift variant +1 more)	Li-Campeau syndrome	GConflicting classifications of pathogenicity
Select item 997418	NC_000014.8:g.93660388_93690906del	GON7, UBR7	Deletion	Li-Campeau syndrome	GPathogenic
Select item 997417	NM_175748.4(UBR7):c.496-2A>G	UBR7	Single nucleotide variant (splice acceptor variant)	Li-Campeau syndrome	GPathogenic
Select item 997416	NM_175748.4(UBR7):c.564_565dup (p.Cys189fs)	UBR7 (C189fs)	Duplication (frameshift variant +1 more)	Li-Campeau syndrome	GPathogenic
Select item 997415	NM_175748.4(UBR7):c.37G>T (p.Glu13Ter)	UBR7 (E13*)	Single nucleotide variant (nonsense +1 more)	Li-Campeau syndrome	GPathogenic