ClinVar for MedGen (Select 766858) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444489	NM_006383.4(CIB2):c.476_479del (p.Asp159fs)	CIB2 (D110fs +3 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1J	GPathogenic
Select item 1026504	NM_006383.4(CIB2):c.352A>G (p.Asn118Asp)	CIB2 (N118D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 938513	NM_006383.4(CIB2):c.401G>T (p.Arg134Leu)	CIB2 (R85L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 666673	NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)	CIB2 (R104Q +3 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1J +3 more	GConflicting classifications of pathogenicity
Select item 505395	NM_006383.4(CIB2):c.300_309del (p.Glu100fs)	CIB2 (E105fs +3 more)	Deletion (frameshift variant +1 more)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 39688	NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)	CIB2 (E64D +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +1 more	Gnot provided
Select item 39685	NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)	CIB2 (F91S +3 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1J +1 more	GLikely pathogenic

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