C3151206[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 828151	NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	TULP1 (Q248* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the eye +3 more	GPathogenic
Select item 1675201	NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)	TULP1 (Q211* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis +1 more	GPathogenic
Select item 987369	NM_003322.6(TULP1):c.568G>T (p.Glu190Ter)	TULP1 (E137* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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