C5231411[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 1301894	NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter)	KAT6B (Y1117* +7 more)	Single nucleotide variant (nonsense)	Hemorrhage, intracerebral, susceptibility to +4 more	GPathogenic
Select item 1301893	NM_001845.6(COL4A1):c.4250-1G>A	COL4A1	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 208663	NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)	COL4A1 (G832R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic

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ClinVar