C0339534[trait identifier] AND "Molecular Genetics Laboratory, Institu - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813116	NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)	USH2A (T5022fs)	Indel (frameshift variant)	Usher syndrome type 2A +5 more	GPathogenic/Likely pathogenic
Select item 813115	NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)	USH2A (E4921*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 424928	NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)	USH2A (Y4710S)	Single nucleotide variant (missense variant)	Usher syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 813242	NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)	USH2A	Deletion (inframe_deletion)	Usher syndrome type 2	GPathogenic
Select item 424930	NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)	USH2A (Y4298N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813114	NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)	USH2A (W4285*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813108	NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)	USH2A (G4112fs)	Duplication (frameshift variant)	Usher syndrome type 2 +2 more	GPathogenic
Select item 813121	NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)	USH2A (Q3228*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813120	NM_206933.4(USH2A):c.7027del (p.Arg2343fs)	USH2A (R2343fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic
Select item 813250	NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)	USH2A (S2043fs)	Microsatellite (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic
Select item 180092	NM_206933.4(USH2A):c.5877del (p.Ser1961fs)	USH2A (S1961fs)	Deletion (frameshift variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 424937	NM_206933.4(USH2A):c.5777-2A>C	USH2A, USH2A-AS2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 444205	NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)	USH2A (S1455R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813119	NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)	USH2A, USH2A-AS1 (E1404*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813248	NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)	USH2A-AS1, USH2A (V1395fs)	Microsatellite (frameshift variant)	Usher syndrome type 2	GPathogenic
Select item 813118	NM_206933.4(USH2A):c.3381del (p.Thr1128fs)	USH2A, USH2A-AS1 (T1128fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic
Select item 424939	NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)	USH2A, USH2A-AS1 (W1074*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 813245	NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)	USH2A (C662*)	Single nucleotide variant (nonsense)	Usher syndrome type 2	GPathogenic
Select item 813117	NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)	USH2A	Indel (nonsense)	Usher syndrome type 2A +2 more	GPathogenic
Select item 2358	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2 +10 more	GPathogenic
Select item 813251	NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)	USH2A (I223T)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 813122	NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)	USH2A (N192T)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 813150	NM_032119.4(ADGRV1):c.2241-2A>G	ADGRV1	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2	GPathogenic
Select item 813149	NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)	ADGRV1 (G1066fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 2	GPathogenic
Select item 813028	NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)	CDH23, LOC111982869 (A445S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 813030	NM_022124.6(CDH23):c.9077+1G>A	CDH23	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 424972	NM_153676.4(USH1C):c.841_848del (p.Ser281fs)	USH1C (S281fs)	Deletion (frameshift variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 813103	NM_153676.4(USH1C):c.580-2A>T	USH1C	Single nucleotide variant (splice acceptor variant)	Hearing impairment +2 more	GPathogenic/Likely pathogenic
Select item 813102	NM_153676.4(USH1C):c.263del (p.Val88fs)	USH1C (V88fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 374742	NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs)	MYO7A (W47fs +1 more)	Microsatellite (frameshift variant)	Usher syndrome type 2 +1 more	GPathogenic/Likely pathogenic
Select item 813193	NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)	MYO7A (L607R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 813194	NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)	MYO7A (R655P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic

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Items: 32