C0344559[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 68466	NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)	CYP1B1 (T404fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
Select item 897191	NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)	CYP1B1 (T234M)	Single nucleotide variant (missense variant)	Congenital glaucoma +5 more	GConflicting classifications of pathogenicity
Select item 898364	NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)	CYP1B1 (V198I)	Single nucleotide variant (missense variant)	Congenital glaucoma +6 more	GConflicting classifications of pathogenicity
Select item 895383	NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu)	CYP1B1 (F123L)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GUncertain significance
Select item 7737	NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	CYP1B1 (W57*)	Single nucleotide variant (nonsense)	Congenital glaucoma +6 more	GPathogenic/Likely pathogenic
Select item 335958	NM_000104.4(CYP1B1):c.-2G>A	CYP1B1	Single nucleotide variant (5 prime UTR variant)	Irido-corneo-trabecular dysgenesis +3 more	GUncertain significance
Select item 3474	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	ELP4, PAX6 (K387* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Congenital ocular coloboma +8 more	GConflicting classifications of pathogenicity
Select item 1652503	NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Isolated optic nerve hypoplasia +7 more	GLikely benign
Select item 279862	NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	PAX6 (R261* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +9 more	GPathogenic
Select item 1385887	NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)	PAX6	Deletion (inframe_deletion +1 more)	Aniridia 1 +7 more	GUncertain significance