C0027832[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 391964	NM_000268.4(NF2):c.114+20G>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +3 more	GBenign/Likely benign
Select item 569354	NM_000268.4(NF2):c.215T>C (p.Val72Ala)	NF2 (V72A)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 642873	NM_000268.4(NF2):c.515G>A (p.Arg172Lys)	NF2 (R130K +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1434458	NM_000268.4(NF2):c.674G>A (p.Arg225Gln)	NF2 (R184Q +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +3 more	GUncertain significance
Select item 527695	NM_000268.4(NF2):c.1232G>A (p.Arg411His)	NF2 (R411H +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1053758	NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)	NF2 (T332A +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1601468	NM_000268.4(NF2):c.1447-11C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +2 more	GBenign/Likely benign
Select item 565467	NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)	NF2 (N540S +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 457904	NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)	NF2 (D567E +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 341086	NM_000268.4(NF2):c.*359G>A	NF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity