ClinVar for MedGen (Select 1830415) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301825	NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser)	CLRN1 (F119S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1275768	NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs)	CLRN1 (S50fs)	Insertion (frameshift variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic
Select item 1185681	NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg)	CLRN1	Single nucleotide variant (stop lost +3 more)	Usher syndrome type 3A	GLikely pathogenic
Select item 992423	NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)	CLRN1 (Y63S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 991772	NM_174878.3(CLRN1):c.208G>T (p.Gly70Cys)	CLRN1 (G70C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 991771	NM_174878.3(CLRN1):c.268C>G (p.Leu90Val)	CLRN1 (A147G +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3A	GUncertain significance
Select item 991770	NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe)	CLRN1 (L108F +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 991769	NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg)	CLRN1 (G136R +1 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3A +3 more	GUncertain significance
Select item 991768	NM_174878.3(CLRN1):c.433+10A>G	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 858579	NM_174878.3(CLRN1):c.92C>G (p.Pro31Arg)	CLRN1 (P31R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 840237	NM_174878.3(CLRN1):c.529G>A (p.Val177Ile)	CLRN1 (V101I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 797928	NM_174878.3(CLRN1):c.270C>G (p.Leu90=)	CLRN1 (Q148E)	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 730216	NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)	CLRN1, CLRN1-AS1 (K7I)	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 678775	NM_174878.3(CLRN1):c.254-1924T>A	CLRN1	Single nucleotide variant (intron variant)	Usher syndrome type 3A +1 more	GBenign
Select item 678774	NM_174878.3(CLRN1):c.254-1947A>G	CLRN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674373	NM_174878.3(CLRN1):c.254-2294A>C	CLRN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 556027	NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu)	CLRN1 (G136E +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 504559	NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)	CLRN1 (Q73R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 501869	NM_174878.3(CLRN1):c.183G>A (p.Met61Ile)	CLRN1 (M61I)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3 +3 more	GUncertain significance
Select item 371628	NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)	CLRN1 (R207* +1 more)	Single nucleotide variant (nonsense +3 more)	Retinitis pigmentosa +4 more	GPathogenic
Select item 343799	NM_174878.3(CLRN1):c.*1038G>A	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 226524	NM_174878.3(CLRN1):c.433+1105C>T	CLRN1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 188875	NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	CLRN1 (I92fs +2 more)	Duplication (frameshift variant +2 more)	Usher syndrome type 3A +7 more	GPathogenic/Likely pathogenic
Select item 188726	NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)	CLRN1 (S50fs)	Indel	Usher syndrome type 3A +6 more	GPathogenic/Likely pathogenic
Select item 178318	NM_174878.3(CLRN1):c.660C>T (p.Asp220=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	Usher syndrome type 3 +2 more	GConflicting classifications of pathogenicity
Select item 48149	NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)	CLRN1, CLRN1-AS1 (S3R)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 48148	NM_174878.3(CLRN1):c.6A>C (p.Pro2=)	CLRN1, CLRN1-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 48147	NM_174878.3(CLRN1):c.57A>T (p.Ala19=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3A +4 more	GBenign
Select item 48146	NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	CLRN1 (A123D +2 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3A +5 more	GPathogenic/Likely pathogenic
Select item 30574	NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp)	CLRN1-AS1, CLRN1 (L154W +2 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3A	GLikely pathogenic
Select item 4399	NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	CLRN1 (C40G)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 4397	NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	CLRN1 (Y63*)	Single nucleotide variant (nonsense +1 more)	CLRN1-related condition +5 more	GPathogenic
Select item 4395	NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	CLRN1-AS1, CLRN1 (N48K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3A +7 more	GPathogenic/Likely pathogenic
Select item 4392	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	CLRN1 (Y176* +2 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Rare genetic deafness +11 more	GPathogenic

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Items: 35