8002[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 312923	NM_001354768.3(NRL):c.*1127T>C	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312924	NM_001354768.3(NRL):c.*1118G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312925	NM_001354768.3(NRL):c.*1043G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312926	NM_001354768.3(NRL):c.*935C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 884148	NM_001354768.3(NRL):c.*864G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312927	NM_001354768.3(NRL):c.*834G>C	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 312928	NM_001354768.3(NRL):c.*813G>A	NRL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 312929	NM_001354768.3(NRL):c.*780G>C	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 880864	NM_001354768.3(NRL):c.*778C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 880865	NM_001354768.3(NRL):c.*673C>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312930	NM_001354768.3(NRL):c.*667C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312931	NM_001354768.3(NRL):c.*558C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312932	NM_001354768.3(NRL):c.*480A>G	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312933	NM_001354768.3(NRL):c.*472C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 882237	NM_001354768.3(NRL):c.*301A>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312934	NM_001354768.3(NRL):c.*283del	NRL	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 312935	NM_001354768.3(NRL):c.*221G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 312936	NM_001354768.3(NRL):c.*213C>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 312937	NM_001354768.3(NRL):c.*173A>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312938	NM_001354768.3(NRL):c.*113C>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GLikely benign
Select item 312939	NM_001354768.3(NRL):c.*108C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 312940	NM_001354768.3(NRL):c.*56G>A	LOC130055387, NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 995878	NM_001354768.3(NRL):c.713G>T (p.Ter238Leu)	LOC130055387, NRL	Single nucleotide variant (stop lost)	Retinitis pigmentosa	GUncertain significance
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=)	NRL, LOC130055387	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +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)	not provided	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 +1 more	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)	LOC130055387, NRL (C219fs +1 more)	Deletion (frameshift variant)	not provided +2 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 236457	NM_001354768.3(NRL):c.586_627dup (p.Ala196_Ala209dup)	NRL, LOC130055387	Duplication (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 866708	NM_001354768.3(NRL):c.620G>A (p.Arg207His)	LOC130055387, NRL (R102H +1 more)	Single nucleotide variant (missense variant)	not provided +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 1329503	NM_001354768.3(NRL):c.619C>T (p.Arg207Cys)	LOC130055387, NRL (R102C +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 27	GLikely pathogenic
Select item 2291189	NM_001354768.3(NRL):c.617C>A (p.Ala206Asp)	LOC130055387, NRL (A206D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1015833	NM_001354768.3(NRL):c.616G>A (p.Ala206Thr)	LOC130055387, NRL (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 3028275	NM_001354768.3(NRL):c.604C>A (p.Arg202=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely pathogenic
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)	NRL, LOC130055387 (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)	LOC130055387, NRL (L187M +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +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)	NRL, LOC130055387 (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	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)	NRL, LOC130055387 (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 2644127	NM_001354768.3(NRL):c.518C>T (p.Ala173Val)	LOC130055387, NRL (A173V +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)	not provided +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 1050441	NM_001354768.3(NRL):c.496A>T (p.Thr166Ser)	NRL (T166S +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 2247472	NM_001354768.3(NRL):c.491G>T (p.Arg164Leu)	NRL (R164L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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