RTL5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC125467739, LOC125467740 +1494 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	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 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 155064	GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1	ABCB7, AMER1 +269 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068612, LOC130068613 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC126863288, LOC126863289 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068438, LOC130068439 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	ABCB7, AR +206 more	Copy number gain	See cases	GPathogenic
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	FTX, GCNA +175 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 149798	GRCh38/hg38 Xq13.1(chrX:71810439-72381499)x3	CITED1, ERCC6L +19 more	Copy number gain	See cases	GLikely benign
Select item 152896	GRCh38/hg38 Xq13.1(chrX:71991402-72276492)x2	ERCC6L, FLJ44635 +13 more	Copy number gain	See cases	GUncertain significance
Select item 3315669	NM_001405151.1(RTL5):c.1664C>T (p.Pro555Leu)	NHSL2, RTL5 (P555L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660896	NM_001405151.1(RTL5):c.1654C>T (p.Arg552Cys)	NHSL2, RTL5 (R552C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3156927	NM_001405151.1(RTL5):c.1637G>A (p.Arg546His)	NHSL2, RTL5 (R546H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1206127	NM_001405151.1(RTL5):c.1600C>T (p.Arg534Cys)	NHSL2, RTL5 (R534C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3156926	NM_001405151.1(RTL5):c.1598G>A (p.Arg533His)	NHSL2, RTL5 (R533H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156925	NM_001405151.1(RTL5):c.1583C>G (p.Ser528Cys)	NHSL2, RTL5 (S528C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156924	NM_001405151.1(RTL5):c.1532G>A (p.Arg511Gln)	NHSL2, RTL5 (R511Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156923	NM_001405151.1(RTL5):c.1468G>C (p.Ala490Pro)	NHSL2, RTL5 (A490P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156922	NM_001405151.1(RTL5):c.1429G>C (p.Ala477Pro)	NHSL2, RTL5 (A477P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511349	NM_001405151.1(RTL5):c.1429G>A (p.Ala477Thr)	NHSL2, RTL5 (A477T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3315666	NM_001405151.1(RTL5):c.1336G>A (p.Glu446Lys)	NHSL2, RTL5 (E446K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156921	NM_001405151.1(RTL5):c.1264G>C (p.Asp422His)	NHSL2, RTL5 (D422H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156919	NM_001405151.1(RTL5):c.1259G>A (p.Ser420Asn)	NHSL2, RTL5 (S420N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1300264	NM_001405151.1(RTL5):c.1258A>C (p.Ser420Arg)	NHSL2, RTL5 (S420R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2590470	NM_001405151.1(RTL5):c.1253G>T (p.Gly418Val)	NHSL2, RTL5 (G418V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315667	NM_001405151.1(RTL5):c.1168A>G (p.Lys390Glu)	NHSL2, RTL5 (K390E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156917	NM_001405151.1(RTL5):c.1138G>A (p.Glu380Lys)	NHSL2, RTL5 (E380K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156916	NM_001405151.1(RTL5):c.1094G>C (p.Arg365Pro)	NHSL2, RTL5 (R365P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315671	NM_001405151.1(RTL5):c.1051G>C (p.Glu351Gln)	NHSL2, RTL5 (E351Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156915	NM_001405151.1(RTL5):c.1001A>G (p.Asn334Ser)	NHSL2, RTL5 (N334S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156936	NM_001405151.1(RTL5):c.935G>C (p.Arg312Pro)	RTL5, NHSL2 (R312P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156935	NM_001405151.1(RTL5):c.927A>T (p.Arg309Ser)	NHSL2, RTL5 (R309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603165	NM_001405151.1(RTL5):c.796T>G (p.Ser266Ala)	NHSL2, RTL5 (S266A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660897	NM_001405151.1(RTL5):c.754G>A (p.Gly252Ser)	NHSL2, RTL5 (G252S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2537765	NM_001405151.1(RTL5):c.724C>G (p.Arg242Gly)	NHSL2, RTL5 (R242G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516124	NM_001405151.1(RTL5):c.674G>C (p.Arg225Pro)	NHSL2, RTL5 (R225P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156934	NM_001405151.1(RTL5):c.623A>G (p.Gln208Arg)	NHSL2, RTL5 (Q208R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156933	NM_001405151.1(RTL5):c.490G>A (p.Ala164Thr)	NHSL2, RTL5 (A164T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156932	NM_001405151.1(RTL5):c.469T>C (p.Ser157Pro)	NHSL2, RTL5 (S157P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156931	NM_001405151.1(RTL5):c.449G>A (p.Arg150Gln)	NHSL2, RTL5 (R150Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616192	NM_001405151.1(RTL5):c.449G>T (p.Arg150Leu)	NHSL2, RTL5 (R150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619697	NM_001405151.1(RTL5):c.412G>C (p.Glu138Gln)	NHSL2, RTL5 (E138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480261	NM_001405151.1(RTL5):c.275C>A (p.Pro92Gln)	NHSL2, RTL5 (P92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156930	NM_001405151.1(RTL5):c.251T>C (p.Leu84Pro)	NHSL2, RTL5 (L84P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315670	NM_001405151.1(RTL5):c.218T>C (p.Leu73Pro)	NHSL2, RTL5 (L73P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156929	NM_001405151.1(RTL5):c.217C>T (p.Leu73Phe)	NHSL2, RTL5 (L73F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660898	NM_001405151.1(RTL5):c.186C>G (p.Pro62=)	NHSL2, RTL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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