ClinVar for Gene (Select 7401) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382145	NM_174878.3(CLRN1):c.220T>A (p.Cys74Ser)	CLRN1 (C74S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3A +1 more	GUncertain significance
Select item 3373545	NM_174878.3(CLRN1):c.254-2117G>C	CLRN1 (A123P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3366708	NM_174878.3(CLRN1):c.149_152delinsGTCCAAT (p.Ser50_Gly51delinsCysProMet)	CLRN1	Indel (inframe_indel +1 more)	not specified	GUncertain significance
Select item 3366363	NM_174878.3(CLRN1):c.151G>A (p.Gly51Arg)	CLRN1 (G51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3354538	NM_174878.3(CLRN1):c.254-2139G>A	CLRN1	Single nucleotide variant (synonymous variant +2 more)	CLRN1-related disorder	GLikely benign
Select item 3267863	NM_174878.3(CLRN1):c.152G>T (p.Gly51Val)	CLRN1 (G51V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3241183	NM_174878.3(CLRN1):c.190_200dup (p.His67fs)	CLRN1 (H67fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 3241181	NM_174878.3(CLRN1):c.55del (p.Ala19fs)	CLRN1 (A19fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 3145997	NM_174878.3(CLRN1):c.692T>C (p.Met231Thr)	CLRN1 (M231T +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3145996	NM_174878.3(CLRN1):c.186G>C (p.Gln62His)	CLRN1 (Q62H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145995	NM_174878.3(CLRN1):c.185A>C (p.Gln62Pro)	CLRN1 (Q62P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3037394	NM_174878.3(CLRN1):c.254-2216C>A	CLRN1 (P90T)	Single nucleotide variant (missense variant +2 more)	CLRN1-related disorder	GBenign
Select item 3027588	NM_174878.3(CLRN1):c.100A>G (p.Ile34Val)	CLRN1 (I34V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027587	NM_174878.3(CLRN1):c.253+2T>C	CLRN1	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 3027586	NM_174878.3(CLRN1):c.350C>T (p.Ala117Val)	CLRN1 (A117V +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3027585	NM_174878.3(CLRN1):c.433+1072G>T	CLRN1 (W148L)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3027584	NM_174878.3(CLRN1):c.433+1083A>G	CLRN1 (T152A)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3027583	NM_174878.3(CLRN1):c.433+1086A>G	CLRN1 (R153G)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3024084	NM_174878.3(CLRN1):c.341del (p.Val114fs)	CLRN1 (D173fs +2 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 3A	GLikely pathogenic
Select item 3008501	NM_174878.3(CLRN1):c.486T>C (p.His162=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3008106	NM_174878.3(CLRN1):c.434-16G>T	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002324	NM_174878.3(CLRN1):c.294C>T (p.His98=)	CLRN1 (R156C)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2986732	NM_174878.3(CLRN1):c.434-12C>G	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981335	NM_174878.3(CLRN1):c.433+18C>A	CLRN1	Single nucleotide variant (intron variant)	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 2916357	NM_174878.3(CLRN1):c.253+14G>A	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901608	NM_174878.3(CLRN1):c.366T>C (p.Asn122=)	CLRN1 (C180R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2896261	NM_174878.3(CLRN1):c.253+11A>G	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876568	NM_174878.3(CLRN1):c.60T>C (p.Cys20=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2861394	NM_174878.3(CLRN1):c.153G>C (p.Gly51=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2853891	NM_174878.3(CLRN1):c.434-19C>T	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851680	NM_174878.3(CLRN1):c.433+20T>G	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846151	NM_174878.3(CLRN1):c.433+9A>G	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2839908	NM_174878.3(CLRN1):c.60T>A (p.Cys20Ter)	CLRN1 (C20*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2836611	NM_174878.3(CLRN1):c.254-2A>T	CLRN1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2833533	NM_174878.3(CLRN1):c.468C>T (p.Ala156=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2833233	NM_174878.3(CLRN1):c.253+17T>G	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2803004	NM_174878.3(CLRN1):c.138C>T (p.Leu46=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800316	NM_174878.3(CLRN1):c.127G>C (p.Gly43Arg)	CLRN1 (G43R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2793328	NM_174878.3(CLRN1):c.433+19C>T	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786461	NM_174878.3(CLRN1):c.22A>G (p.Ile8Val)	CLRN1, CLRN1-AS1 (I8V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2768849	NM_174878.3(CLRN1):c.609G>T (p.Gly203=)	CLRN1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2765004	NM_174878.3(CLRN1):c.297C>A (p.Val99=)	CLRN1 (Q157K)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2745158	NM_174878.3(CLRN1):c.138del (p.Val47fs)	CLRN1 (V47fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
Select item 2720390	NM_174878.3(CLRN1):c.433+15C>A	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709987	NM_174878.3(CLRN1):c.81C>T (p.Ala27=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2709631	NM_174878.3(CLRN1):c.254-8_254-4del	CLRN1	Deletion (intron variant)	not provided	GLikely benign
Select item 2680850	NM_174878.3(CLRN1):c.496G>T (p.Glu166Ter)	CLRN1 (E166* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680849	NM_174878.3(CLRN1):c.109dup (p.Thr37fs)	CLRN1 (T37fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680848	NM_174878.3(CLRN1):c.433+1G>T	CLRN1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 61	GLikely pathogenic
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 2680846	NM_174878.3(CLRN1):c.555T>A (p.Tyr185Ter)	CLRN1 (Y109* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
Select item 2680845	NM_174878.3(CLRN1):c.209dup (p.Val71fs)	CLRN1 (V71fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680844	NM_174878.3(CLRN1):c.271A>T (p.Lys91Ter)	CLRN1 (K15* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680843	NM_174878.3(CLRN1):c.195_201dup (p.Gly68fs)	CLRN1 (G68fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680842	NM_174878.3(CLRN1):c.150_151del (p.Gly51fs)	CLRN1 (G51fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680841	NM_174878.3(CLRN1):c.129del (p.Ala44fs)	CLRN1 (A44fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 61	GLikely pathogenic
Select item 2680840	NM_174878.3(CLRN1):c.95T>A (p.Leu32Ter)	CLRN1 (L32*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 61 +1 more	GPathogenic/Likely pathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2527443	NM_174878.3(CLRN1):c.457A>G (p.Ile153Val)	CLRN1 (I153V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486466	NM_174878.3(CLRN1):c.337A>G (p.Met113Val)	CLRN1 (M113V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485472	NM_174878.3(CLRN1):c.476T>C (p.Val159Ala)	CLRN1 (V83A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2415973	NM_174878.3(CLRN1):c.487C>T (p.His163Tyr)	CLRN1 (H163Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2331324	NM_174878.3(CLRN1):c.304A>G (p.Ile102Val)	CLRN1 (I26V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298106	NM_174878.3(CLRN1):c.385G>A (p.Glu129Lys)	CLRN1 (E129K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2203455	NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter)	CLRN1 (S50*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2203454	NM_174878.3(CLRN1):c.176del (p.Gly59fs)	CLRN1 (G59fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2191809	NM_174878.3(CLRN1):c.364A>T (p.Asn122Tyr)	CLRN1 (N46Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185051	NM_174878.3(CLRN1):c.253+16A>G	CLRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2175998	NM_174878.3(CLRN1):c.295G>A (p.Val99Ile)	CLRN1 (R156H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171637	NM_174878.3(CLRN1):c.244C>G (p.Arg82Gly)	CLRN1 (R82G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2165101	NM_174878.3(CLRN1):c.160C>G (p.Leu54Val)	CLRN1 (L54V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2163686	NM_174878.3(CLRN1):c.433+3A>G	CLRN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2161366	NM_174878.3(CLRN1):c.319A>G (p.Ile107Val)	CLRN1 (H164R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2159480	NM_174878.3(CLRN1):c.539C>T (p.Thr180Met)	CLRN1 (T180M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2157880	NM_174878.3(CLRN1):c.349G>A (p.Ala117Thr)	CLRN1 (A41T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2157669	NM_174878.3(CLRN1):c.379C>A (p.Pro127Thr)	CLRN1 (P127T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2157326	NM_174878.3(CLRN1):c.387A>C (p.Glu129Asp)	CLRN1 (E53D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2155836	NM_174878.3(CLRN1):c.196T>C (p.Phe66Leu)	CLRN1 (F66L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2155690	NM_174878.3(CLRN1):c.245G>A (p.Arg82Gln)	CLRN1 (R82Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2154685	NM_174878.3(CLRN1):c.494C>T (p.Ser165Leu)	CLRN1 (S89L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
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 2149723	NM_174878.3(CLRN1):c.671C>T (p.Thr224Ile)	CLRN1 (T224I +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2127362	NM_174878.3(CLRN1):c.451G>A (p.Val151Ile)	CLRN1 (V164I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2126821	NM_174878.3(CLRN1):c.254-7del	CLRN1	Deletion (intron variant)	not provided	GLikely benign
Select item 2126732	NM_174878.3(CLRN1):c.423C>T (p.Ser141=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2119799	NM_174878.3(CLRN1):c.236G>A (p.Arg79Lys)	CLRN1 (R79K)	Single nucleotide variant (missense variant +1 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 2111258	NM_174878.3(CLRN1):c.139G>A (p.Val47Ile)	CLRN1 (V47I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093358	NM_174878.3(CLRN1):c.284T>G (p.Val95Gly)	CLRN1 (S152R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2091937	NM_174878.3(CLRN1):c.492C>T (p.Leu164=)	CLRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2090812	NM_174878.3(CLRN1):c.94T>C (p.Leu32=)	CLRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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