C0403399[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 4724	NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	ALG1 (S147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 1301890	NM_004646.4(NPHS1):c.621del (p.Ser208fs)	NPHS1 (S208fs)	Deletion (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic/Likely pathogenic
Select item 56440	NM_004646.4(NPHS1):c.139del (p.Ala47fs)	KIRREL2, NPHS1 (A47fs)	Deletion (frameshift variant)	Nephrotic syndrome +3 more	GPathogenic/Likely pathogenic

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ClinVar