"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "GLI - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981515	NM_001374353.1(GLI2):c.4075G>A (p.Glu1359Lys)	GLI2 (E1234K +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	GUncertain significance
Select item 973891	NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp)	GLI2 (G1317D +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance