C5542277[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619112	NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val)	TRIP11 (M1806V +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1	GLikely pathogenic
Select item 619109	NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter)	TRIP11 (Q1512* +1 more)	Single nucleotide variant (nonsense)	Odontochondrodysplasia 1	GLikely pathogenic
Select item 619110	NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr)	TRIP11 (D410Y +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1	GLikely pathogenic
Select item 5508	NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)	TRIP11 (R264* +1 more)	Single nucleotide variant (nonsense)	Odontochondrodysplasia 1 +1 more	GPathogenic
Select item 619107	NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter)	TRIP11 (Q196* +1 more)	Single nucleotide variant (nonsense)	Odontochondrodysplasia 1 +1 more	GConflicting classifications of pathogenicity

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