C2675750[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 44742	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2 (K122I)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 17032	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 more	GPathogenic
Select item 17023	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	GJB2 (V37I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database

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ClinVar