ClinVar for MedGen (Select 339336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1036925	NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala)	CLRN1 (T224A +1 more)	Single nucleotide variant (missense variant +3 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 1001677	NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg)	CLRN1 (C20R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 961287	NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg)	CLRN1 (G14R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 938719	NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser)	CLRN1 (P134S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 932234	NM_174878.3(CLRN1):c.254-2A>G	CLRN1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 903490	NM_174878.3(CLRN1):c.*298T>C	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3 +1 more	GUncertain significance
Select item 901610	NM_001195794.1(CLRN1):c.-229A>G	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 901609	NM_001195794.1(CLRN1):c.-186A>G	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 901608	NM_001195794.1(CLRN1):c.-141C>T	CLRN1-AS1, CLRN1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 901607	NM_001195794.1(CLRN1):c.-91C>T	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 901553	NM_174878.3(CLRN1):c.*537T>C	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 901552	NM_174878.3(CLRN1):c.*592G>C	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 901551	NM_174878.3(CLRN1):c.*815T>C	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 901550	NM_174878.3(CLRN1):c.*835G>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 901549	NM_174878.3(CLRN1):c.*1027T>G	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3 +1 more	GLikely benign
Select item 901062	NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg)	CLRN1 (Q62R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 901061	NM_174878.3(CLRN1):c.411G>A (p.Leu137=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901060	NM_174878.3(CLRN1):c.434-3C>A	CLRN1	Single nucleotide variant (intron variant)	Usher syndrome type 3	GUncertain significance
Select item 900994	NM_174878.3(CLRN1):c.*1032T>C	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 900993	NM_174878.3(CLRN1):c.*1181T>C	CLRN1	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 900992	NM_174878.3(CLRN1):c.*1191T>C	CLRN1	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 3 +1 more	GLikely benign
Select item 900991	NM_174878.3(CLRN1):c.*1262G>A	CLRN1	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 899882	NM_174878.3(CLRN1):c.502A>T (p.Ile168Phe)	CLRN1 (I181F +2 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3 +1 more	GUncertain significance
Select item 899881	NM_174878.3(CLRN1):c.*9C>G	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 899880	NM_174878.3(CLRN1):c.*93T>C	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 899879	NM_174878.3(CLRN1):c.*249G>A	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 850284	NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe)	CLRN1 (S159F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 842883	NM_174878.3(CLRN1):c.66C>A (p.Leu22=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 812272	NM_174878.3(CLRN1):c.349_358del (p.Ala117fs)	CLRN1 (A117fs +2 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 3	GPathogenic
Select item 812271	NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr)	CLRN1 (S146Y +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GLikely pathogenic
Select item 812104	NM_174878.3(CLRN1):c.65T>A (p.Leu22His)	CLRN1 (L22H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3	GPathogenic
Select item 802016	NM_174878.3(CLRN1):c.128G>T (p.Gly43Val)	CLRN1 (G43V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 794358	NM_174878.3(CLRN1):c.540G>A (p.Thr180=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 638640	NM_174878.3(CLRN1):c.433+1G>A	CLRN1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 633701	NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro)	CLRN1 (L108P +1 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3	GPathogenic
Select item 618568	NM_174878.3(CLRN1):c.43G>A (p.Val15Met)	CLRN1 (V15M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 599094	NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp)	CLRN1 (G70D)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 558249	NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter)	CLRN1 (G14*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 3	GLikely pathogenic
Select item 557009	NM_174878.3(CLRN1):c.372del (p.Phe124fs)	CLRN1 (F48fs +2 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 3	GLikely pathogenic
Select item 556984	NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter)	CLRN1 (Q62*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 3	GLikely pathogenic
Select item 556437	NM_174878.3(CLRN1):c.433+1102G>T	CLRN1	Single nucleotide variant (intron variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 556088	NM_174878.3(CLRN1):c.291C>T (p.Ile97=)	CLRN1 (P155S)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556027	NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu)	CLRN1 (G136E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 555917	NM_174878.3(CLRN1):c.456_458del (p.Met152del)	CLRN1 (M76del +2 more)	Deletion (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 555763	NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)	CLRN1 (G51fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 3	GLikely pathogenic
Select item 555657	NM_174878.3(CLRN1):c.254-2082T>G	CLRN1 (M1R +1 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3	GLikely benign
Select item 555400	NM_174878.3(CLRN1):c.254-2081G>A	CLRN1 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 555368	NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)	CLRN1, CLRN1-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Hearing impairment +1 more	GLikely pathogenic
Select item 554981	NM_174878.3(CLRN1):c.254-2189dup	CLRN1 (H100fs)	Duplication (intron variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 554097	NM_174878.3(CLRN1):c.254-2115del	CLRN1 (G124fs)	Deletion (frameshift variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 553531	NM_174878.3(CLRN1):c.254-2057T>C	CLRN1	Single nucleotide variant (splice donor variant +1 more)	Usher syndrome type 3	GLikely benign
Select item 553157	NM_174878.3(CLRN1):c.254-2111del	CLRN1 (C125fs)	Deletion (frameshift variant +2 more)	Usher syndrome type 3	GLikely benign
Select item 552903	NM_174878.3(CLRN1):c.3G>A (p.Met1Ile)	CLRN1, CLRN1-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Usher syndrome type 3	GLikely pathogenic
Select item 552809	NM_174878.3(CLRN1):c.336C>G (p.Thr112=)	CLRN1 (H170D)	Single nucleotide variant (synonymous variant +2 more)	Usher syndrome type 3 +1 more	GLikely benign
Select item 552795	NM_174878.3(CLRN1):c.433+1083ACCAGGC[3]	CLRN1 (Q157fs)	Microsatellite (intron variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 552508	NM_174878.3(CLRN1):c.254-2132C>T	CLRN1 (R118*)	Single nucleotide variant (intron variant +2 more)	Usher syndrome type 3	GLikely benign
Select item 552163	NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)	CLRN1 (Q194* +2 more)	Single nucleotide variant (nonsense +2 more)	Usher syndrome type 3 +1 more	GPathogenic/Likely pathogenic
Select item 550785	NM_174878.3(CLRN1):c.254-2099_254-2086del	CLRN1 (V129fs)	Deletion (frameshift variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 504559	NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)	CLRN1 (Q73R)	Single nucleotide variant (missense variant +1 more)	not provided +6 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 472986	NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)	HARS1 (R375C +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +2 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)	not provided +4 more	GPathogenic
Select item 371376	NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)	CLRN1, CLRN1-AS1 (Q5*)	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3 +1 more	GPathogenic/Likely pathogenic
Select item 370687	NM_174878.3(CLRN1):c.433+2dup	CLRN1	Duplication (splice donor variant)	Usher syndrome type 3	GLikely pathogenic
Select item 343821	NM_001195794.1(CLRN1):c.-289G>A	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343820	NM_001195794.1(CLRN1):c.-274A>C	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 343819	NM_001195794.1(CLRN1):c.-82T>C	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 343818	NM_001195794.1(CLRN1):c.-71A>G	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 343817	NM_174878.3(CLRN1):c.473A>G (p.Glu158Gly)	CLRN1 (E158G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 343816	NM_174878.3(CLRN1):c.*90A>G	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 343815	NM_174878.3(CLRN1):c.*115G>A	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 343814	NM_174878.3(CLRN1):c.*275A>G	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 343812	NM_174878.3(CLRN1):c.*277G>A	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 343806	NM_174878.3(CLRN1):c.*307G>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 343805	NM_174878.3(CLRN1):c.*315C>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3 +1 more	GBenign
Select item 343804	NM_174878.3(CLRN1):c.*372C>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 343803	NM_174878.3(CLRN1):c.*425G>A	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 343802	NM_174878.3(CLRN1):c.*856G>A	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 343801	NM_174878.3(CLRN1):c.*884A>C	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3 +1 more	GBenign
Select item 343800	NM_174878.3(CLRN1):c.*964C>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3 +1 more	GBenign
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 343798	NM_174878.3(CLRN1):c.*1039A>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343797	NM_174878.3(CLRN1):c.*1165C>G	CLRN1	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 343796	NM_174878.3(CLRN1):c.*1330T>C	CLRN1	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 3	GLikely benign
Select item 343795	NM_174878.3(CLRN1):c.*1331C>T	CLRN1	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 3	GUncertain significance
Select item 228521	NM_174878.3(CLRN1):c.433+1061A>T	CLRN1	Single nucleotide variant (intron variant +1 more)	not specified +4 more	GUncertain significance
Select item 227257	NM_174878.3(CLRN1):c.226T>C (p.Leu76=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188875	NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	CLRN1 (I92fs +2 more)	Duplication (frameshift variant +2 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 188726	NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)	CLRN1 (S50fs)	Indel	Retinitis pigmentosa 61 +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 48148	NM_174878.3(CLRN1):c.6A>C (p.Pro2=)	CLRN1, CLRN1-AS1	Single nucleotide variant (non-coding transcript 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)	not specified +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)	Retinitis pigmentosa 61 +5 more	GPathogenic/Likely pathogenic
Select item 48145	NM_174878.3(CLRN1):c.301_305del (p.Val101fs)	CLRN1 (C158fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 48143	NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)	CLRN1 (N48D)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 4399	NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	CLRN1 (C40G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 61 +3 more	GPathogenic/Likely pathogenic
Select item 4398	NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs)	CLRN1 (Y63fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 3	GPathogenic
Select item 4397	NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	CLRN1 (Y63*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 3A +5 more	GPathogenic
Select item 4396	NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)	CLRN1 (L150P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 61	GLikely pathogenic

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