"Department Of Translational Genomics (developmental Genetics Section) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1251990	NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val)	TRIP11 (G1806V +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1	GLikely pathogenic
Select item 1251989	NM_004239.4(TRIP11):c.4459_4460del (p.Met1487fs)	TRIP11 (M1486fs +1 more)	Deletion (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 1251991	NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter)	TRIP11 (R254* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GPathogenic

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ClinVar