C0796274[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210029	NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)	SLC52A3 (F457L)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +4 more	GUncertain significance
Select item 262241	NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val)	SLC52A3 (I303V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GBenign
Select item 476615	NM_033409.4(SLC52A3):c.834G>A (p.Thr278=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GLikely benign
Select item 262240	NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met)	SLC52A3 (T278M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 579662	NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr)	SLC52A3 (H263Y)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 262236	NM_033409.4(SLC52A3):c.600C>T (p.Pro200=)	SLC52A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262232	NM_033409.4(SLC52A3):c.240C>T (p.Gly80=)	SLC52A3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 856021	NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)	SLC52A3 (I20L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 262242	NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)	SLC52A3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign