7401[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 149627	GRCh38/hg38 3q25.1(chr3:150889603-151142420)x3	CLRN1, CLRN1-AS1 +6 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 343800	NM_174878.3(CLRN1):c.*964C>T	CLRN1	Single nucleotide variant (intron variant +2 more)	not provided +1 more	GBenign
Select item 343801	NM_174878.3(CLRN1):c.*884A>C	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
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 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 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 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 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 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 343804	NM_174878.3(CLRN1):c.*372C>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GBenign
Select item 343805	NM_174878.3(CLRN1):c.*315C>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
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 343808	NM_174878.3(CLRN1):c.*277GT[16]	CLRN1	Microsatellite (3 prime UTR variant +2 more)	Retinitis pigmentosa-deafness syndrome +2 more	GConflicting classifications of pathogenicity
Select item 343807	NM_174878.3(CLRN1):c.*277GT[15]	CLRN1	Microsatellite (3 prime UTR variant +2 more)	Retinitis pigmentosa-deafness syndrome +2 more	GConflicting classifications of pathogenicity
Select item 343811	NM_174878.3(CLRN1):c.*277GT[11]	CLRN1	Microsatellite (3 prime UTR variant +2 more)	Retinitis pigmentosa-deafness syndrome +1 more	GUncertain significance
Select item 343810	NM_174878.3(CLRN1):c.*277GT[12]	CLRN1	Microsatellite (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343809	NM_174878.3(CLRN1):c.*277GT[13]	CLRN1	Microsatellite (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 903490	NM_174878.3(CLRN1):c.*298T>C	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 343813	NM_174878.3(CLRN1):c.*265AT[5]	CLRN1	Microsatellite (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 343816	NM_174878.3(CLRN1):c.*90A>G	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	Usher syndrome type 3	GUncertain significance
Select item 1194248	NM_174878.3(CLRN1):c.*35G>A	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 48141	NM_174878.3(CLRN1):c.*5C>T	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
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 2770080	NM_174878.3(CLRN1):c.696C>T (p.Tyr232=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2403055	NM_174878.3(CLRN1):c.693G>A (p.Met231Ile)	CLRN1 (M244I +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 943209	NM_174878.3(CLRN1):c.692T>A (p.Met231Lys)	CLRN1 (M231K +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1445219	NM_174878.3(CLRN1):c.682G>A (p.Ala228Thr)	CLRN1 (A228T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1604322	NM_174878.3(CLRN1):c.675T>C (p.Asn225=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1980860	NM_174878.3(CLRN1):c.674A>G (p.Asn225Ser)	CLRN1 (N225S +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2149723	NM_174878.3(CLRN1):c.671C>T (p.Thr224Ile)	CLRN1 (T224I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
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 1152317	NM_174878.3(CLRN1):c.669A>G (p.Thr223=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1975462	NM_174878.3(CLRN1):c.668C>T (p.Thr223Ile)	CLRN1 (T236I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1610280	NM_174878.3(CLRN1):c.663A>G (p.Ala221=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 2046895	NM_174878.3(CLRN1):c.654T>G (p.Ser218=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1370033	NM_174878.3(CLRN1):c.637T>C (p.Phe213Leu)	CLRN1 (F226L +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2820250	NM_174878.3(CLRN1):c.636G>A (p.Gln212=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 765097	NM_174878.3(CLRN1):c.624T>G (p.Leu208=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2974965	NM_174878.3(CLRN1):c.619C>A (p.Arg207=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 1118271	NM_174878.3(CLRN1):c.615A>T (p.Leu205=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1156822	NM_174878.3(CLRN1):c.612C>G (p.Leu204=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1141053	NM_174878.3(CLRN1):c.612C>T (p.Leu204=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2768849	NM_174878.3(CLRN1):c.609G>T (p.Gly203=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1949339	NM_174878.3(CLRN1):c.609G>A (p.Gly203=)	CLRN1	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1114186	NM_174878.3(CLRN1):c.606T>C (p.Asn202=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 971183	NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys)	CLRN1 (N202K +1 more)	Single nucleotide variant (missense variant +3 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1128251	NM_174878.3(CLRN1):c.594T>C (p.Val198=)	CLRN1	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2680847	NM_174878.3(CLRN1):c.591dup (p.Val198fs)	CLRN1 (V198fs +1 more)	Duplication (frameshift variant +3 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 1971725	NM_174878.3(CLRN1):c.591del (p.Phe197fs)	CLRN1 (F210fs +1 more)	Deletion (frameshift variant +3 more)	not provided +1 more	GPathogenic
Select item 1923240	NM_174878.3(CLRN1):c.589T>C (p.Phe197Leu)	CLRN1 (F210L +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2841746	NM_174878.3(CLRN1):c.588T>C (p.Phe196=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1511955	NM_174878.3(CLRN1):c.584G>A (p.Cys195Tyr)	CLRN1 (C208Y +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2119037	NM_174878.3(CLRN1):c.578T>G (p.Phe193Cys)	CLRN1 (F193C +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 644615	NM_174878.3(CLRN1):c.578del (p.Phe193fs)	CLRN1 (F206fs +1 more)	Deletion (frameshift variant +3 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
Select item 286965	NM_174878.3(CLRN1):c.571G>A (p.Val191Ile)	CLRN1 (V191I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 933810	NM_174878.3(CLRN1):c.570G>A (p.Trp190Ter)	CLRN1 (W114* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2153460	NM_174878.3(CLRN1):c.567C>G (p.Phe189Leu)	CLRN1 (F113L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1430264	NM_174878.3(CLRN1):c.565T>C (p.Phe189Leu)	CLRN1 (F113L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1548883	NM_174878.3(CLRN1):c.564A>T (p.Ser188=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1451157	NM_174878.3(CLRN1):c.563C>A (p.Ser188Ter)	CLRN1 (S188* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2993097	NM_174878.3(CLRN1):c.561C>A (p.Thr187=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1122525	NM_174878.3(CLRN1):c.561C>T (p.Thr187=)	CLRN1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1349938	NM_174878.3(CLRN1):c.557C>A (p.Thr186Asn)	CLRN1 (T110N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2750069	NM_174878.3(CLRN1):c.556del (p.Thr186fs)	CLRN1 (T199fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2680846	NM_174878.3(CLRN1):c.555T>A (p.Tyr185Ter)	CLRN1 (Y109* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1503296	NM_174878.3(CLRN1):c.542A>G (p.Gln181Arg)	CLRN1 (Q181R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1143916	NM_174878.3(CLRN1):c.540G>T (p.Thr180=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2159480	NM_174878.3(CLRN1):c.539C>T (p.Thr180Met)	CLRN1 (T180M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 2040098	NM_174878.3(CLRN1):c.528T>A (p.Tyr176Ter)	CLRN1 (Y176* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2037153	NM_174878.3(CLRN1):c.528T>C (p.Tyr176=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2180216	NM_174878.3(CLRN1):c.527A>T (p.Tyr176Phe)	CLRN1 (Y100F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1990657	NM_174878.3(CLRN1):c.524C>A (p.Thr175Asn)	CLRN1 (T175N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1455146	NM_174878.3(CLRN1):c.513T>A (p.Tyr171Ter)	CLRN1 (Y171* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
Select item 2128353	NM_174878.3(CLRN1):c.510T>C (p.Asn170=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1314822	NM_174878.3(CLRN1):c.509A>G (p.Asn170Ser)	CLRN1 (N170S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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