"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1911060	NM_006767.4(LZTR1):c.209A>G (p.Lys70Arg)	LZTR1 (K70R)	Single nucleotide variant (missense variant)	LZTR1-related disorders +1 more	GConflicting classifications of pathogenicity
Select item 1066305	NM_006767.4(LZTR1):c.263+1G>A	LZTR1	Single nucleotide variant (splice donor variant)	Schwannomatosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 1803281	NM_006767.4(LZTR1):c.401-1G>A	LZTR1	Single nucleotide variant (splice acceptor variant)	Schwannomatosis 2 +1 more	GPathogenic
Select item 692086	NM_006767.4(LZTR1):c.510-2A>G	LZTR1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1406808	NM_006767.4(LZTR1):c.677C>T (p.Pro226Leu)	LZTR1 (P226L)	Single nucleotide variant (missense variant)	LZTR1-related disorders +1 more	GConflicting classifications of pathogenicity
Select item 1801829	NM_006767.4(LZTR1):c.736C>T (p.Gln246Ter)	LZTR1 (Q246*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1 +1 more	GLikely pathogenic
Select item 209089	NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	LZTR1 (R284C)	Single nucleotide variant (missense variant)	LZTR1-related condition +5 more	GPathogenic
Select item 522800	NM_006767.4(LZTR1):c.1943-256C>T	LZTR1	Single nucleotide variant (intron variant)	Noonan syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 1960868	NM_006767.4(LZTR1):c.2127dup (p.Ile710fs)	LZTR1 (I710fs)	Duplication (frameshift variant)	LZTR1-related disorders +1 more	GPathogenic/Likely pathogenic