ClinVar for Gene (Select 6103) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368726	NM_001034853.2(RPGR):c.3357G>T (p.Arg1119Ser)	RPGR (R1119S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368604	NM_001034853.2(RPGR):c.2173C>G (p.Gln725Glu)	RPGR (Q725E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3349052	NM_001034853.2(RPGR):c.2344G>A (p.Gly782Arg)	RPGR (G782R)	Single nucleotide variant (missense variant +1 more)	RPGR-related disorder	GUncertain significance
Select item 3346717	NM_001034853.2(RPGR):c.2654_2672dup (p.Glu892fs)	RPGR (E892fs)	Duplication (frameshift variant +1 more)	RPGR-related disorder	GPathogenic
Select item 3344160	NM_001034853.2(RPGR):c.293A>G (p.His98Arg)	RPGR (H108R +1 more)	Single nucleotide variant (missense variant +1 more)	RPGR-related disorder	GLikely pathogenic
Select item 3341977	NM_001034853.2(RPGR):c.623A>G (p.Asp208Gly)	RPGR (D207G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341960	NM_001034853.2(RPGR):c.597T>C (p.Tyr199=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3341575	NM_001034853.2(RPGR):c.2520G>T (p.Gly840=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3341041	NM_001034853.2(RPGR):c.962A>G (p.Asp321Gly)	RPGR (D320G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340607	NM_001034853.2(RPGR):c.2200G>T (p.Glu734Ter)	RPGR (E734*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3315151	NM_000328.3(RPGR):c.2353A>G (p.Asn785Asp)	RPGR (N673D +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315150	NM_001034853.2(RPGR):c.1115C>G (p.Ala372Gly)	RPGR (A371G +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315149	NM_001034853.2(RPGR):c.1709C>A (p.Thr570Lys)	RPGR (T508K +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315148	NM_000328.3(RPGR):c.2384A>G (p.Gln795Arg)	RPGR (Q683R +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3249845	NM_001034853.2(RPGR):c.3364del (p.Met1122fs)	RPGR (M1122fs)	Deletion (frameshift variant +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 3248565	NM_001034853.2(RPGR):c.843dup (p.Glu282Ter)	RPGR (E281* +2 more)	Duplication (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 3248203	NC_000023.10:g.(?_38164030)_(38197811_?)del	RPGR	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3248096	NC_000023.10:g.(?_38156517)_(38164063_?)dup	RPGR	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 3245899	NC_000023.10:g.(?_38178062)_(38180362_?)del	RPGR	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3076187	NM_001034853.2(RPGR):c.-14G>A	LOC130068098, RPGR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3066183	NM_001034853.2(RPGR):c.350G>T (p.Gly117Val)	RPGR (G116V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062483	GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	CFAP47, CYBB +17 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3033617	NM_001034853.2(RPGR):c.248-15T>C	RPGR	Single nucleotide variant (intron variant)	RPGR-related disorder	GLikely benign
Select item 3032418	NM_001034853.2(RPGR):c.1449G>A (p.Glu483=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	RPGR-related disorder	GLikely benign
Select item 3028605	NM_001034853.2(RPGR):c.296C>T (p.Thr99Ile)	RPGR (T109I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028604	NM_001034853.2(RPGR):c.764C>T (p.Thr255Ile)	RPGR (T254I +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028602	NM_001034853.2(RPGR):c.1040del (p.Phe346_Leu347insTer)	RPGR	Deletion (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028601	NM_001034853.2(RPGR):c.1048A>G (p.Ile350Val)	RPGR (I349V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028600	NM_001034853.2(RPGR):c.1077T>A (p.Cys359Ter)	RPGR (C358* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028599	NM_001034853.2(RPGR):c.1125T>G (p.Ile375Met)	RPGR (I374M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028598	NM_001034853.2(RPGR):c.1135G>T (p.Glu379Ter)	RPGR (E378* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028596	NM_001034853.2(RPGR):c.1281A>G (p.Thr427=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3028595	NM_001034853.2(RPGR):c.1304_1305del (p.Leu435fs)	RPGR (L373fs +3 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028594	NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)	RPGR (Q461* +3 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028593	NM_001034853.2(RPGR):c.1573-2del	RPGR	Deletion (intron variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028592	NM_001034853.2(RPGR):c.1594C>T (p.Leu532=)	RPGR	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028591	NM_001034853.2(RPGR):c.1612C>G (p.Leu538Val)	RPGR (L476V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028590	NM_001034853.2(RPGR):c.1642G>T (p.Glu548Ter)	RPGR (E486* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028589	NM_001034853.2(RPGR):c.1720A>T (p.Thr574Ser)	RPGR (T512S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028588	NM_001034853.2(RPGR):c.1721_1722insAT (p.Thr574_Thr575insTer)	RPGR	Insertion (frameshift variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028587	NM_001034853.2(RPGR):c.1724_1725insGCATGAAGCAT (p.Ile576fs)	RPGR (I514fs +2 more)	Insertion (frameshift variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028586	NM_001034853.2(RPGR):c.1726A>T (p.Ile576Phe)	RPGR (I514F +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028585	NM_001034853.2(RPGR):c.1728_1729insATGACGCAT (p.Ile576_Glu577insMetThrHis)	RPGR	Insertion (inframe_insertion +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028584	NM_001034853.2(RPGR):c.1807del (p.Glu603fs)	RPGR (E541fs +2 more)	Deletion (frameshift variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028583	NM_001034853.2(RPGR):c.1983A>C (p.Glu661Asp)	RPGR (E661D)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028582	NM_001034853.2(RPGR):c.2002del (p.His668fs)	RPGR (H668fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028581	NM_001034853.2(RPGR):c.2153del (p.Gly718fs)	RPGR (G718fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028580	NM_001034853.2(RPGR):c.2316del (p.Gly773fs)	RPGR (G773fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028578	NM_001034853.2(RPGR):c.2427G>A (p.Glu809=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028577	NM_001034853.2(RPGR):c.2442A>G (p.Val814=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028576	NM_001034853.2(RPGR):c.3202A>T (p.Lys1068Ter)	RPGR (K1068*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028574	NM_000328.3(RPGR):c.2057C>T (p.Thr686Ile)	RPGR (T513I +6 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028573	NM_000328.3(RPGR):c.2366A>T (p.Asp789Val)	RPGR (D616V +6 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3026532	NM_001034853.2(RPGR):c.619+1G>C	RPGR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3024653	GRCh37/hg19 Xp11.4(chrX:38059567-38180342)x1	RPGR, SRPX	Copy number loss	not provided	GPathogenic
Select item 3024652	GRCh37/hg19 Xp11.4(chrX:38059567-38170026)x0	RPGR, SRPX	Copy number loss	not provided	GPathogenic
Select item 3021736	NM_001034853.2(RPGR):c.16G>T (p.Glu6Ter)	LOC130068098, RPGR (E6*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 3020676	NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[3] (p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu)	RPGR	Microsatellite (inframe_insertion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3019722	NM_001034853.2(RPGR):c.2310GGA[1] (p.Glu772del)	RPGR (E772del)	Microsatellite (inframe_deletion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3018813	NM_001034853.2(RPGR):c.3371T>A (p.Val1124Asp)	RPGR (V1124D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 3017777	NM_000328.3(RPGR):c.2241+17_2241+18del	RPGR	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3017511	NM_001034853.2(RPGR):c.2933A>G (p.Glu978Gly)	RPGR (E978G)	Single nucleotide variant (intron variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3017295	NM_001034853.2(RPGR):c.2580A>G (p.Glu860=)	RPGR	Single nucleotide variant (intron variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3016863	NM_001034853.2(RPGR):c.1803A>G (p.Ile601Met)	RPGR (I539M +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3016701	NC_000023.11:g.38276591T>C	RPGR (E523G +6 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3016537	NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])	RPGR	Deletion (inframe_deletion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3016472	NM_001034853.2(RPGR):c.2496G>A (p.Glu832=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2995948	NM_001034853.2(RPGR):c.1129T>C (p.Phe377Leu)	RPGR (F387L +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2995880	NM_001034853.2(RPGR):c.311-6G>A	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2988762	NM_001034853.2(RPGR):c.1191C>T (p.Thr397=)	RPGR	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2988749	NM_001034853.2(RPGR):c.1572+18A>G	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2987599	NM_001034853.2(RPGR):c.1762GAG[1] (p.Glu589del)	RPGR (E527del +2 more)	Microsatellite (inframe_deletion +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2986273	NM_001034853.2(RPGR):c.2854G>A (p.Glu952Lys)	RPGR (E952K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2983829	NM_001034853.2(RPGR):c.620-6C>T	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2981514	NM_001034853.2(RPGR):c.1415-9A>T	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2979154	NM_001034853.2(RPGR):c.1919del (p.Lys640fs)	RPGR (K640fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2977179	NM_001034853.2(RPGR):c.248-20C>T	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2973515	NM_001034853.2(RPGR):c.1600C>G (p.Gln534Glu)	RPGR (Q533E +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2965206	NM_001034853.2(RPGR):c.28+18C>T	LOC130068098, RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2965098	NM_001034853.2(RPGR):c.2921_2947dup (p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu)	RPGR	Duplication (inframe_insertion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2962873	NM_001034853.2(RPGR):c.1059+17del	RPGR	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2955071	NM_001034853.2(RPGR):c.2094G>T (p.Glu698Asp)	RPGR (E698D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2954768	NM_001034853.2(RPGR):c.2619A>G (p.Glu873=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2920649	NM_001034853.2(RPGR):c.547C>T (p.Pro183Ser)	RPGR (P182S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 2919845	NM_001034853.2(RPGR):c.1722G>A (p.Thr574=)	RPGR	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2919091	NM_001034853.2(RPGR):c.2835_2840dup (p.Glu949_Glu950insGlyGlu)	RPGR	Duplication (inframe_insertion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2918839	NM_001034853.2(RPGR):c.2803G>A (p.Glu935Lys)	RPGR (E935K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2917403	NM_001034853.2(RPGR):c.2609A>G (p.Glu870Gly)	RPGR (E870G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2916450	NM_001034853.2(RPGR):c.2682G>A (p.Glu894=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2913937	NM_001034853.2(RPGR):c.1616C>T (p.Thr539Ile)	RPGR (T477I +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2913350	NM_001034853.2(RPGR):c.2053G>C (p.Glu685Gln)	RPGR (E685Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2910486	NM_001034853.2(RPGR):c.739C>T (p.Gln247Ter)	RPGR (Q257* +2 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2910485	NM_001034853.2(RPGR):c.815G>T (p.Gly272Val)	RPGR (G271V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2909990	NM_001034853.2(RPGR):c.1414+18G>C	RPGR	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2907569	NM_001034853.2(RPGR):c.1693C>T (p.Gln565Ter)	RPGR (Q503* +2 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2905512	NM_001034853.2(RPGR):c.2556G>A (p.Glu852=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2904689	NC_000023.11:g.38269815T>C	RPGR	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign

<< First< Prev

Page of 10