"Fulgent Genetics, Fulgent Genetics"[submitter] AND "USH1C"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178562	NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)	USH1C (G507S +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +4 more	GUncertain significance
Select item 929922	NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)	USH1C (H793Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 992072	NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)	USH1C (R473W +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GUncertain significance
Select item 992075	NM_153676.4(USH1C):c.2270G>A (p.Arg757His)	USH1C (R438H +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GUncertain significance
Select item 551392	NM_153676.4(USH1C):c.2227-1G>T	USH1C	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1C +3 more	GPathogenic/Likely pathogenic
Select item 229602	NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)	USH1C (R431Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 179845	NM_153676.4(USH1C):c.2112A>G (p.Pro704=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	USH1C-related condition +5 more	GLikely benign
Select item 1315460	NM_153676.4(USH1C):c.1793G>A (p.Arg598His)	USH1C (R598H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GUncertain significance
Select item 992079	NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)	USH1C (H376Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 553053	NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)	USH1C (D265N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +2 more	GUncertain significance
Select item 551814	NM_153676.4(USH1C):c.496+1G>T	USH1C	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GPathogenic
Select item 5149	NM_153676.4(USH1C):c.388G>A (p.Val130Ile)	USH1C (V130I)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +4 more	GBenign/Likely benign
Select item 968559	NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)	USH1C (G121S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +4 more	GUncertain significance
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 196417	NM_153676.4(USH1C):c.188G>A (p.Arg63Gln)	USH1C (R63Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GUncertain significance
Select item 229601	NM_153676.4(USH1C):c.152A>G (p.Asn51Ser)	USH1C (N51S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +4 more	GUncertain significance
Select item 741286	NM_153676.4(USH1C):c.135C>T (p.Asp45=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 5146	NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)	USH1C (R31*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +3 more	GPathogenic
Select item 880385	NM_153676.4(USH1C):c.-60T>G	USH1C	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 1C +2 more	GUncertain significance

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Items: 20