"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 179758	NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)	STRC (R1468*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic
Select item 227969	NM_153700.2(STRC):c.4399G>A (p.Val1467Ile)	STRC (V1467I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1299973	NM_153700.2(STRC):c.3794+1G>A	STRC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1299972	NM_153700.2(STRC):c.3601C>T (p.Gln1201Ter)	STRC (Q1201*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 227082	NM_153700.2(STRC):c.3360T>C (p.Cys1120=)	STRC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

ClinVar