"Invitae"[submitter] AND "NRL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2802911	NM_001354768.3(NRL):c.712T>C (p.Ter238Arg)	LOC130055387, NRL	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2827002	NM_001354768.3(NRL):c.711C>T (p.Leu237=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 167386	NM_001354768.3(NRL):c.711C>G (p.Leu237=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2803836	NM_001354768.3(NRL):c.709C>T (p.Leu237Phe)	LOC130055387, NRL (L132F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010052	NM_001354768.3(NRL):c.708C>T (p.Phe236=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167563	NM_001354768.3(NRL):c.703C>T (p.Leu235Phe)	LOC130055387, NRL (L130F +1 more)	Single nucleotide variant (missense variant)	NRL-related condition +1 more	GBenign
Select item 1969559	NM_001354768.3(NRL):c.696C>T (p.Pro232=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942427	NM_001354768.3(NRL):c.693C>T (p.Asp231=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719071	NM_001354768.3(NRL):c.693C>G (p.Asp231Glu)	LOC130055387, NRL (D126E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488193	NM_001354768.3(NRL):c.691G>A (p.Asp231Asn)	LOC130055387, NRL (D231N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906818	NM_001354768.3(NRL):c.687C>G (p.Ser229=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1017251	NM_001354768.3(NRL):c.687C>A (p.Ser229=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556844	NM_001354768.3(NRL):c.684G>A (p.Gly228=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466478	NM_001354768.3(NRL):c.677G>T (p.Gly226Val)	LOC130055387, NRL (G226V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933685	NM_001354768.3(NRL):c.675C>T (p.Ser225=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715886	NM_001354768.3(NRL):c.671C>G (p.Ser224Trp)	LOC130055387, NRL (S119W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853152	NM_001354768.3(NRL):c.654del (p.Cys219fs)	NRL, LOC130055387 (C219fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 27 +3 more	GConflicting classifications of pathogenicity
Select item 2160136	NM_001354768.3(NRL):c.652C>T (p.Arg218Cys)	LOC130055387, NRL (R113C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 882486	NM_001354768.3(NRL):c.645C>T (p.Tyr215=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2795207	NM_001354768.3(NRL):c.635G>A (p.Arg212His)	LOC130055387, NRL (R212H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479627	NM_001354768.3(NRL):c.628C>G (p.Arg210Gly)	LOC130055387, NRL (R105G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866708	NM_001354768.3(NRL):c.620G>A (p.Arg207His)	LOC130055387, NRL (R102H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 2098689	NM_001354768.3(NRL):c.619C>G (p.Arg207Gly)	LOC130055387, NRL (R207G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015833	NM_001354768.3(NRL):c.616G>A (p.Ala206Thr)	NRL, LOC130055387 (A101T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848677	NM_001354768.3(NRL):c.607G>A (p.Ala203Thr)	LOC130055387, NRL (A203T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466827	NM_001354768.3(NRL):c.604C>T (p.Arg202Trp)	LOC130055387, NRL (R202W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444638	NM_001354768.3(NRL):c.599C>A (p.Ala200Glu)	LOC130055387, NRL (A200E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450581	NM_001354768.3(NRL):c.597C>G (p.Asp199Glu)	LOC130055387, NRL (D199E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 944408	NM_001354768.3(NRL):c.589C>T (p.Gln197Ter)	LOC130055387, NRL (Q92* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1899885	NM_001354768.3(NRL):c.585C>G (p.Ala195=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 861204	NM_001354768.3(NRL):c.578G>A (p.Arg193His)	LOC130055387, NRL (R193H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470971	NM_001354768.3(NRL):c.567dup (p.Glu190fs)	LOC130055387, NRL (E190fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2751057	NM_001354768.3(NRL):c.565G>A (p.Ala189Thr)	LOC130055387, NRL (A189T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297094	NM_001354768.3(NRL):c.559C>A (p.Leu187Met)	NRL, LOC130055387 (L187M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1348715	NM_001354768.3(NRL):c.556G>A (p.Gly186Arg)	LOC130055387, NRL (G186R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041067	NM_001354768.3(NRL):c.550C>G (p.Arg184Gly)	LOC130055387, NRL (R184G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724014	NM_001354768.3(NRL):c.549G>A (p.Gln183=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1436905	NM_001354768.3(NRL):c.517_544del (p.Ala173fs)	LOC130055387, NRL (A68fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 620329	NM_001354768.3(NRL):c.544C>T (p.Gln182Ter)	LOC130055387, NRL (Q182* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1517533	NM_001354768.3(NRL):c.539_540insC (p.Leu181fs)	LOC130055387, NRL (L181fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1461803	NM_001354768.3(NRL):c.532_537del (p.Ser178_Lys179del)	LOC130055387, NRL	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1419747	NM_001354768.3(NRL):c.537del (p.Lys179fs)	LOC130055387, NRL (K179fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2794805	NM_001354768.3(NRL):c.535A>C (p.Lys179Gln)	LOC130055387, NRL (K74Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937275	NM_001354768.3(NRL):c.527G>A (p.Cys176Tyr)	LOC130055387, NRL (C176Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844053	NM_001354768.3(NRL):c.521A>G (p.Gln174Arg)	LOC130055387, NRL (Q174R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550323	NM_001354768.3(NRL):c.516C>T (p.Tyr172=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866063	NM_001354768.3(NRL):c.516C>A (p.Tyr172Ter)	LOC130055387, NRL (Y67* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 950435	NM_001354768.3(NRL):c.515A>T (p.Tyr172Phe)	LOC130055387, NRL (Y67F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1516647	NM_001354768.3(NRL):c.514T>A (p.Tyr172Asn)	LOC130055387, NRL (Y172N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447760	NM_001354768.3(NRL):c.497C>T (p.Thr166Met)	NRL (T166M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513892	NM_001354768.3(NRL):c.494G>C (p.Arg165Pro)	NRL (R165P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968435	NM_001354768.3(NRL):c.488G>A (p.Arg163Lys)	NRL (R163K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115728	NM_001354768.3(NRL):c.483G>A (p.Lys161=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14044	NM_001354768.3(NRL):c.479T>C (p.Leu160Pro)	NRL (L160P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1515397	NM_001354768.3(NRL):c.459_477dup (p.Leu160fs)	NRL (L160fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1043188	NM_001354768.3(NRL):c.476G>A (p.Arg159Gln)	NRL (R54Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976736	NM_001354768.3(NRL):c.474_475insA (p.Arg159fs)	NRL (R54fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2777576	NM_001354768.3(NRL):c.474G>A (p.Leu158=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1476044	NM_001354768.3(NRL):c.469G>A (p.Ala157Thr)	NRL (A52T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934886	NM_001354768.3(NRL):c.469G>T (p.Ala157Ser)	NRL (A157S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752566	NM_001354768.3(NRL):c.467A>G (p.Glu156Gly)	NRL (E156G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523490	NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)	NRL (E156fs +1 more)	Duplication (frameshift variant)	Elevated circulating hepatic transaminase concentration +6 more	GUncertain significance
Select item 2819669	NM_001354768.3(NRL):c.462C>A (p.Arg154=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009272	NM_001354768.3(NRL):c.462C>T (p.Arg154=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485745	NM_001354768.3(NRL):c.461G>A (p.Arg154His)	NRL (R154H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166735	NM_001354768.3(NRL):c.450G>C (p.Arg150=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 312941	NM_001354768.3(NRL):c.441G>A (p.Arg147=)	NRL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2142414	NM_001354768.3(NRL):c.439C>T (p.Arg147Trp)	NRL (R147W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476277	NM_001354768.3(NRL):c.425T>A (p.Val142Glu)	NRL (V37E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882487	NM_001354768.3(NRL):c.425T>C (p.Val142Ala)	NRL (V142A +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1492711	NM_001354768.3(NRL):c.420G>A (p.Met140Ile)	NRL (M140I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906500	NM_001354768.3(NRL):c.418A>C (p.Met140Leu)	NRL (M35L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562596	NM_001354768.3(NRL):c.417G>A (p.Ser139=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429632	NM_001354768.3(NRL):c.416C>G (p.Ser139Trp)	NRL (S34W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875470	NM_001354768.3(NRL):c.413T>C (p.Val138Ala)	NRL (V138A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508063	NM_001354768.3(NRL):c.412G>C (p.Val138Leu)	NRL (V138L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551606	NM_001354768.3(NRL):c.408G>T (p.Ala136=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882488	NM_001354768.3(NRL):c.407C>T (p.Ala136Val)	NRL (A136V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 746206	NM_001354768.3(NRL):c.402C>T (p.Asp134=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713521	NM_001354768.3(NRL):c.399C>T (p.Ser133=)	NRL	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 2179792	NM_001354768.3(NRL):c.392G>C (p.Arg131Pro)	NRL (R26P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001276	NM_001354768.3(NRL):c.383T>C (p.Leu128Pro)	NRL (L23P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501823	NM_001354768.3(NRL):c.382-2A>G	NRL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2808898	NM_001354768.3(NRL):c.382-5C>A	NRL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1089421	NM_001354768.3(NRL):c.382-10C>T	NRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1081917	NM_001354768.3(NRL):c.382-10C>G	NRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977140	NM_001354768.3(NRL):c.382-16C>T	NRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664348	NM_001354768.3(NRL):c.382-17G>C	NRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648226	NM_001354768.3(NRL):c.381+20G>C	NRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131573	NM_001354768.3(NRL):c.381+5G>T	NRL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1996526	NM_001354768.3(NRL):c.381+1G>A	NRL	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 866883	NM_001354768.3(NRL):c.377T>G (p.Val126Gly)	NRL (V126G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 807100	NM_001354768.3(NRL):c.375C>G (p.His125Gln)	NRL (H125Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1476457	NM_001354768.3(NRL):c.374A>C (p.His125Pro)	NRL (H125P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937716	NM_001354768.3(NRL):c.365G>C (p.Gly122Ala)	NRL (G122A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1042538	NM_001354768.3(NRL):c.364G>A (p.Gly122Arg)	NRL (G122R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 838994	NM_001354768.3(NRL):c.358G>A (p.Glu120Lys)	NRL (E120K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1393131	NM_001354768.3(NRL):c.350G>T (p.Ser117Ile)	NRL (S117I)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1395570	NM_001354768.3(NRL):c.348del (p.Ser117fs)	NRL (S117fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1055578	NM_001354768.3(NRL):c.338A>G (p.Tyr113Cys)	NRL (Y113C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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