"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "LZTR1 - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1006717	NM_006767.4(LZTR1):c.361C>T (p.His121Tyr)	LZTR1 (H121Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1698861	NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg)	LZTR1 (G134R)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GLikely pathogenic
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 599030	NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)	LZTR1 (R210*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 2664794	NM_006767.4(LZTR1):c.1245_1246del (p.Glu415fs)	LZTR1 (E415fs)	Microsatellite (frameshift variant)	Schwannomatosis 2	GLikely pathogenic
Select item 1770636	NM_006767.4(LZTR1):c.1353+1G>T	LZTR1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1312561	NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu)	LZTR1 (R466L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 968299	NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)	LZTR1 (R567H)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 450845	NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)	LZTR1 (N578fs)	Deletion (frameshift variant)	Schwannomatosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 546216	NM_006767.4(LZTR1):c.1785+1G>A	LZTR1	Single nucleotide variant (splice donor variant)	Noonan syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 1477161	NM_006767.4(LZTR1):c.2326-6T>C	LZTR1	Single nucleotide variant (intron variant)	Schwannomatosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 1021020	NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)	LZTR1 (R810W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity