"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SHH"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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