C0266484[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 498633	NM_005413.4(SIX3):c.127G>T (p.Gly43Cys)	SIX3 (G43C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 487087	NM_005413.4(SIX3):c.206G>A (p.Gly69Asp)	SIX3 (G69D)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +1 more	GUncertain significance
Select item 65500	NM_005413.4(SIX3):c.576C>T (p.Arg192=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1362086	NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)	SHH (A393G)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, isolated, with coloboma 5 +5 more	GUncertain significance
Select item 8887	NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	SHH (G290D)	Single nucleotide variant (missense variant +1 more)	Schizencephaly +5 more	GBenign/Likely benign
Select item 378580	NM_000193.4(SHH):c.300+17G>A	SHH	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 195868	NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)	COL4A1 (P530S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 289628	NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)	COL4A1 (P3T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity

ClinVar