"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Rare genetic deafness +6 more	GPathogenic
Select item 812455	NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)	USH2A-AS2, USH2A (G1840V)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 812445	NM_206933.3(USH2A):c.[12448A>G;5012G>A]	USH2A, USH2A-AS2 (G1671D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic

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ClinVar