C4015172[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 659705	NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp)	TRNT1 (R99W)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +3 more	GUncertain significance
Select item 508755	NM_182916.3(TRNT1):c.343-14G>A	TRNT1	Single nucleotide variant (intron variant)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more	GLikely benign
Select item 863968	NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly)	TRNT1 (D128G)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +3 more	GUncertain significance
Select item 655830	NM_182916.3(TRNT1):c.567G>T (p.Gln189His)	TRNT1 (Q189H)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 839964	NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys)	TRNT1 (E276K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 1366781	NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)	TRNT1 (E277* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more	GPathogenic/Likely pathogenic
Select item 969591	NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu)	TRNT1 (F300L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more	GUncertain significance
Select item 663557	NM_182916.3(TRNT1):c.925T>G (p.Leu309Val)	TRNT1 (L289V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 933693	NM_182916.3(TRNT1):c.1010del (p.Thr337fs)	TRNT1 (T317fs +1 more)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic