C0026764[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +31 more	GPathogenic
Select item 12606	NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	HRAS, LRRC56 (G13C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	HRAS, LRRC56 (G12A)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +8 more	GPathogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic
Select item 310975	NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	LIG4 (A842D +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 7673	NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	LIG4 (R814* +2 more)	Single nucleotide variant (nonsense)	prenatal LIG4 syndrome with aqueductal stenosis +4 more	GPathogenic/Likely pathogenic
Select item 577575	NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp)	LIG4 (R628W +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GUncertain significance
Select item 1040677	NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val)	LIG4 (M569V +2 more)	Indel (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 881302	NM_206937.2(LIG4):c.1705A>G (p.Met569Val)	LIG4 (M569V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GUncertain significance
Select item 279838	NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)	LIG4 (K357fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 834697	NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)	LIG4 (P243S +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 310991	NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)	LIG4 (I187T +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +3 more	GUncertain significance
Select item 1002393	NM_206937.2(LIG4):c.524T>C (p.Ile175Thr)	LIG4 (I108T +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 844759	NM_206937.2(LIG4):c.381G>C (p.Met127Ile)	LIG4 (M60I +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GUncertain significance
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +15 more	GPathogenic OOncogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database