C1863561[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 165301	NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)	STRC	Indel	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 499237	NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)	STRC (E1613*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GPathogenic
Select item 165308	NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)	STRC (W1475C)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 1175707	NC_000015.9:g.(43851199_43890391)_(?_44038820)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1175705	NC_000015.9:g.(43851199_43890333)_(43897676_43924279)del	CATSPER2, CKMT1B +2 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1174526	NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del	CKMT1A, CKMT1B +4 more	Deletion	Deafness-infertility syndrome +1 more	GPathogenic/Likely pathogenic

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