ClinVar for MedGen (Select 1708326) - ClinVar

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Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13018251.	NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser) GRCh37: Chr3:150659446 GRCh38: Chr3:150941659	CLRN1	F119S, F43S	Usher syndrome type 3A	Uncertain significance (Nov 15, 2020)	criteria provided, single submitter
Select item 12757682.	NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) GRCh37: Chr3:150690347-150690348 GRCh38: Chr3:150972560-150972561	CLRN1	S50fs	Retinitis pigmentosa, Usher syndrome type 3A, Retinitis pigmentosa 61, not provided	Pathogenic (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11856813.	NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg) GRCh37: Chr3:150645725 GRCh38: Chr3:150927938	CLRN1		Usher syndrome type 3A	Likely pathogenic	no assertion criteria provided
Select item 9924234.	NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) GRCh37: Chr3:150690308 GRCh38: Chr3:150972521	CLRN1	Y63S	Usher syndrome type 3A, Usher syndrome	Pathogenic/Likely pathogenic (Feb 12, 2022)	no assertion criteria provided
Select item 9917725.	NM_174878.3(CLRN1):c.208G>T (p.Gly70Cys) GRCh37: Chr3:150690288 GRCh38: Chr3:150972501	CLRN1	G70C	not provided	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 9917716.	NM_174878.3(CLRN1):c.268C>G (p.Leu90Val) GRCh37: Chr3:150659534 GRCh38: Chr3:150941747	CLRN1	A147G, L14V, L90V	Usher syndrome type 3A	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 9917707.	NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe) GRCh37: Chr3:150659480 GRCh38: Chr3:150941693	CLRN1	L108F, L32F, P165L	Retinitis pigmentosa, Usher syndrome type 3A, Retinitis pigmentosa 61, not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9917698.	NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg) GRCh37: Chr3:150659396 GRCh38: Chr3:150941609	CLRN1	G136R, G60R	Retinitis pigmentosa, Usher syndrome type 3A, Retinitis pigmentosa 61, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9917689.	NM_174878.3(CLRN1):c.433+10A>G GRCh37: Chr3:150659359 GRCh38: Chr3:150941572	CLRN1		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 85857910.	NM_174878.3(CLRN1):c.92C>G (p.Pro31Arg) GRCh37: Chr3:150690404 GRCh38: Chr3:150972617	CLRN1	P31R	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 84023711.	NM_174878.3(CLRN1):c.529G>A (p.Val177Ile) GRCh37: Chr3:150645893 GRCh38: Chr3:150928106	CLRN1	V101I, V177I, V190I	not provided	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79792812.	NM_174878.3(CLRN1):c.270C>G (p.Leu90=) GRCh37: Chr3:150659532 GRCh38: Chr3:150941745	CLRN1	Q148E	not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 73021613.	NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile) GRCh37: Chr3:150690476 GRCh38: Chr3:150972689	CLRN1, CLRN1-AS1	K7I	not provided, Usher syndrome type 3	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 67877514.	NM_174878.3(CLRN1):c.254-1924T>A GRCh37: Chr3:150661472 GRCh38: Chr3:150943685	CLRN1		not provided, Usher syndrome type 3A	Benign (Jun 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67877415.	NM_174878.3(CLRN1):c.254-1947A>G GRCh37: Chr3:150661495 GRCh38: Chr3:150943708	CLRN1		not provided, Usher syndrome type 3A	Benign (Jun 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67437316.	NM_174878.3(CLRN1):c.254-2294A>C GRCh37: Chr3:150661842 GRCh38: Chr3:150944055	CLRN1		not provided, Usher syndrome type 3A	Benign (Jun 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55602717.	NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu) GRCh37: Chr3:150659395 GRCh38: Chr3:150941608	CLRN1	G136E, G60E	Usher syndrome type 3A, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50455918.	NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) GRCh37: Chr3:150690278 GRCh38: Chr3:150972491	CLRN1	Q73R	Usher syndrome type 3, not specified, not provided, Retinitis pigmentosa, Retinitis pigmentosa 61, Usher syndrome type 3A	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50186919.	NM_174878.3(CLRN1):c.183G>A (p.Met61Ile) GRCh37: Chr3:150690313 GRCh38: Chr3:150972526	CLRN1	M61I	Usher syndrome type 3A, Inborn genetic diseases, not provided, Usher syndrome type 3	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37162820.	NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) GRCh37: Chr3:150645803 GRCh38: Chr3:150928016	CLRN1	R207, R220	not provided, Usher syndrome type 3A, Retinitis pigmentosa 61, Retinitis pigmentosa, Usher syndrome type 3	Pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34379921.	NM_174878.3(CLRN1):c.*1038G>A GRCh37: Chr3:150644685 GRCh38: Chr3:150926898	CLRN1		not provided, Usher syndrome type 3A, Usher syndrome type 3	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 22652422.	NM_174878.3(CLRN1):c.433+1105C>T GRCh37: Chr3:150658264 GRCh38: Chr3:150940477	CLRN1		Usher syndrome type 3A, not specified, not provided	Benign (Jun 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18887523.	NM_174878.3(CLRN1):c.502dup (p.Ile168fs) GRCh37: Chr3:150645919-150645920 GRCh38: Chr3:150928132-150928133	CLRN1	I92fs, I168fs, I181fs	Usher syndrome, Retinal dystrophy, not provided, Retinitis pigmentosa 61, Usher syndrome type 3, Retinitis pigmentosa 61, Usher syndrome type 3A, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18872624.	NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) GRCh37: Chr3:150690344-150690347 GRCh38: Chr3:150972557-150972560	CLRN1	S50fs	not provided, Rare genetic deafness, Retinal dystrophy, Usher syndrome type 3, Retinitis pigmentosa, Retinitis pigmentosa 61, Usher syndrome type 3A	Pathogenic/Likely pathogenic (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17831825.	NM_174878.3(CLRN1):c.660C>T (p.Asp220=) GRCh37: Chr3:150645762 GRCh38: Chr3:150927975	CLRN1		not specified, not provided, Usher syndrome type 3	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 4814926.	NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) GRCh37: Chr3:150690487 GRCh38: Chr3:150972700	CLRN1, CLRN1-AS1	S3R	not specified, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4814827.	NM_174878.3(CLRN1):c.6A>C (p.Pro2=) GRCh37: Chr3:150690490 GRCh38: Chr3:150972703	CLRN1, CLRN1-AS1		not provided, Usher syndrome type 3, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4814728.	NM_174878.3(CLRN1):c.57A>T (p.Ala19=) GRCh37: Chr3:150690439 GRCh38: Chr3:150972652	CLRN1		Usher syndrome type 3, Usher syndrome type 3A, not provided, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4814629.	NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) GRCh37: Chr3:150659434 GRCh38: Chr3:150941647	CLRN1	A123D, A47D, C180*	Usher syndrome type 3A, Rare genetic deafness, Usher syndrome, not provided, Usher syndrome type 3	Pathogenic/Likely pathogenic (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3057430.	NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp) GRCh37: Chr3:150645961 GRCh38: Chr3:150928174	CLRN1, CLRN1-AS1	L154W, L167W, L78W	Usher syndrome type 3A	Likely pathogenic (Jan 30, 2023)	criteria provided, single submitter
Select item 439931.	NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) GRCh37: Chr3:150690378 GRCh38: Chr3:150972591	CLRN1	C40G	Usher syndrome, Retinal dystrophy, not provided, Usher syndrome type 3	Conflicting interpretations of pathogenicity (Dec 7, 2022)	criteria provided, conflicting interpretations
Select item 439732.	NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) GRCh37: Chr3:150690307 GRCh38: Chr3:150972520	CLRN1	Y63*	Usher syndrome type 3A, Rare genetic deafness, not provided, Usher syndrome type 3	Pathogenic (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 439533.	NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) GRCh37: Chr3:150690352 GRCh38: Chr3:150972565	CLRN1, CLRN1-AS1	N48K	Usher syndrome type 3A, Rare genetic deafness, Retinal dystrophy, not specified, not provided, Retinitis pigmentosa, Usher syndrome type 3, Usher syndrome type 3A, Retinitis pigmentosa 61, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 439234.	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) GRCh37: Chr3:150645894 GRCh38: Chr3:150928107	CLRN1	Y176, Y100, Y189*	Rare genetic deafness, not provided, Retinitis pigmentosa, Usher syndrome type 3, Hearing impairment, Retinitis pigmentosa, Usher syndrome type 3A, Retinitis pigmentosa 61	Pathogenic/Likely pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 34