C3810283[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549752	NM_006767.4(LZTR1):c.-38T>A	LZTR1	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 101034	NM_006767.4(LZTR1):c.264-13G>A	LZTR1	Single nucleotide variant (intron variant)	RASopathy +7 more	GConflicting classifications of pathogenicity
Select item 209088	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	LZTR1 (G248R)	Single nucleotide variant (missense variant)	Fetal cystic hygroma +6 more	GConflicting classifications of pathogenicity
Select item 209089	NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	LZTR1 (R284C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 289969	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	LZTR1 (R362*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 373089	NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	LZTR1 (R412C)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +7 more	GConflicting classifications of pathogenicity
Select item 1517849	NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)	LZTR1 (R412H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 918100	NM_006767.4(LZTR1):c.1620T>C (p.His540=)	LZTR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 1365703	NM_006767.4(LZTR1):c.1942+3A>G	LZTR1	Single nucleotide variant (intron variant)	Schwannomatosis 2 +5 more	GUncertain significance
Select item 1512851	NM_006767.4(LZTR1):c.1943-1G>A	LZTR1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely pathogenic