C0338503[trait identifier] AND "Human Developmental Genetics Laborator - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693158	NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)	ARID1A (Q1992* +1 more)	Single nucleotide variant (nonsense)	Septo-optic dysplasia sequence	GPathogenic
Select item 94104	NM_003106.4(SOX2):c.70_89del (p.Asn24fs)	LOC108281177, SOX2 +1 more (N24fs)	Deletion (frameshift variant)	SOX2-related condition +3 more	GPathogenic
Select item 1693157	NM_000193.4(SHH):c.562+1G>A	SHH	Single nucleotide variant (splice donor variant)	Septo-optic dysplasia sequence	GPathogenic

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