"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550966	NM_153676.4(USH1C):c.2547-1G>T	USH1C	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GLikely benign
Select item 48006	NM_153676.4(USH1C):c.2490+12G>C	USH1C	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 48003	NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)	USH1C (E519D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 47976	NM_153676.4(USH1C):c.1188A>G (p.Pro396=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 48025	NM_153676.4(USH1C):c.819+10G>C	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C +2 more	GBenign/Likely benign
Select item 5141	NM_153676.4(USH1C):c.238dup (p.Arg80fs)	USH1C (R80fs)	Duplication (frameshift variant +1 more)	Rare genetic deafness +6 more	GPathogenic
Select item 5143	NM_153676.4(USH1C):c.216G>A (p.Val72=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Rare genetic deafness +5 more	GPathogenic
Select item 47972	NM_153676.4(USH1C):c.105-16C>T	USH1C	Single nucleotide variant (intron variant)	not specified +3 more	GBenign

ClinVar