C0020597[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +9 more	GPathogenic/Likely pathogenic
Select item 434252	NM_000384.3(APOB):c.10238del (p.Thr3413fs)	APOB (T3413fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 374255	NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)	APOB (G997fs)	Deletion (frameshift variant)	Hypobetalipoproteinemia	GLikely pathogenic

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