RAB23[gene] - ClinVar

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 1455841.	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 GRCh37: Chr6:50938895-57297586 GRCh38: Chr6:50971182-57432788	BMP5, DST, GCLC, GSTA1, GSTA2, GSTA3, GSTA4, HCRTR2, IL17A, MCM3, PKHD1, PRIM2, GCM1, BAG2, TRAM2, CILK1, ZNF451, FBXO9, TINAG, TMEM14A, RAB23, HMGCLL1, LRRC1, KIAA1586, ELOVL5, COL21A1, PAQR8, MLIP, IL17F, EFHC1, RN7SK, BEND6, GSTA5, FAM83B, GFRAL, TRAM2-AS1, KLHL31, MIR206, MIR133B, LOC730101, MIR548U, LOC100506188, MIR5685, MLIP-AS1, MLIP-IT1, LINCMD1, LOC101927082, LOC101927136, LINC01564, LOC101927189, ZNF451-AS1, DST-AS1, LOC110120617, LOC110121250, LOC111365194, LOC113175006, LOC113175007		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided	VCV000145584
Select item 1480022.	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3 GRCh37: Chr6:53796341-68859642 GRCh38: Chr6:53931543-68149750	BMP5, DST, HCRTR2, PRIM2, PTP4A1, BAG2, PHF3, ZNF451, TINAG, LGSN, RAB23, HMGCLL1, KIAA1586, COL21A1, MLIP, KHDRBS2, BEND6, FAM83B, EYS, GFRAL, LOC441155, TRA-AGC13-2, TRM-CAT7-1, TRA-AGC12-3, TRI-AAT1-1, TRA-AGC16-1, ERVH-3, MIR548U, MTRNR2L9, LOC100506188, MLIP-AS1, MLIP-IT1, LOC101927189, ZNF451-AS1, DST-AS1, LOC102723883, LINC00680, LOC111365145, SCAT8, LOC113175010, LOC113175011, LOC113175012		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided	VCV000148002
Select item 1443693.	GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1 GRCh37: Chr6:56177722-57171010 GRCh38: Chr6:56312924-57306212	DST, BAG2, ZNF451, RAB23, KIAA1586, COL21A1, BEND6, LOC100506188, ZNF451-AS1, DST-AS1		See cases	Uncertain significance (Dec 30, 2009)	no assertion criteria provided	VCV000144369
Select item 1465064.	GRCh38/hg38 6p12.1-11.2(chr6:56639682-57432788)x3 GRCh37: Chr6:56504480-57297586 GRCh38: Chr6:56639682-57432788	DST, PRIM2, BAG2, ZNF451, RAB23, KIAA1586, BEND6, MIR548U, LOC100506188, ZNF451-AS1, DST-AS1		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided	VCV000146506
Select item 9085195.	NM_016277.5(RAB23):c.*3330A>G GRCh37: Chr6:57051929 GRCh38: Chr6:57187131	BAG2, RAB23		Carpenter syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter	VCV000908519
Select item 9085206.	NM_016277.5(RAB23):c.*3298A>G GRCh37: Chr6:57051961 GRCh38: Chr6:57187163	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000908520
Select item 9085217.	NM_016277.5(RAB23):c.*3189T>C GRCh37: Chr6:57052070 GRCh38: Chr6:57187272	BAG2, RAB23		Carpenter syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter	VCV000908521
Select item 9085228.	NM_016277.5(RAB23):c.*3129G>C GRCh37: Chr6:57052130 GRCh38: Chr6:57187332	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000908522
Select item 9093659.	NM_016277.5(RAB23):c.*3033C>T GRCh37: Chr6:57052226 GRCh38: Chr6:57187428	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000909365
Select item 90936610.	NM_016277.5(RAB23):c.*2876T>C GRCh37: Chr6:57052383 GRCh38: Chr6:57187585	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000909366
Select item 90936711.	NM_016277.5(RAB23):c.*2769C>A GRCh37: Chr6:57052490 GRCh38: Chr6:57187692	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000909367
Select item 90936812.	NM_016277.5(RAB23):c.*2753G>A GRCh37: Chr6:57052506 GRCh38: Chr6:57187708	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Feb 9, 2018)	criteria provided, single submitter	VCV000909368
Select item 90936913.	NM_016277.5(RAB23):c.*2681G>A GRCh37: Chr6:57052578 GRCh38: Chr6:57187780	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000909369
Select item 90937014.	NM_016277.5(RAB23):c.*2586G>A GRCh37: Chr6:57052673 GRCh38: Chr6:57187875	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000909370
Select item 90937115.	NM_016277.5(RAB23):c.*2485A>G GRCh37: Chr6:57052774 GRCh38: Chr6:57187976	BAG2, RAB23		Carpenter syndrome 1	Benign (Jan 12, 2018)	criteria provided, single submitter	VCV000909371
Select item 90937216.	NM_016277.5(RAB23):c.*2425G>A GRCh37: Chr6:57052834 GRCh38: Chr6:57188036	BAG2, RAB23		Carpenter syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter	VCV000909372
Select item 91033017.	NM_016277.5(RAB23):c.*2341C>A GRCh37: Chr6:57052918 GRCh38: Chr6:57188120	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000910330
Select item 91033118.	NM_016277.5(RAB23):c.*2319T>C GRCh37: Chr6:57052940 GRCh38: Chr6:57188142	RAB23, BAG2		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000910331
Select item 91033219.	NM_016277.5(RAB23):c.*2273T>C GRCh37: Chr6:57052986 GRCh38: Chr6:57188188	BAG2, RAB23		Carpenter syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter	VCV000910332
Select item 91033320.	NM_016277.5(RAB23):c.*2245T>C GRCh37: Chr6:57053014 GRCh38: Chr6:57188216	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000910333
Select item 91033421.	NM_016277.5(RAB23):c.*2067A>G GRCh37: Chr6:57053192 GRCh38: Chr6:57188394	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000910334
Select item 91033522.	NM_016277.5(RAB23):c.*2008G>A GRCh37: Chr6:57053251 GRCh38: Chr6:57188453	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000910335
Select item 91033623.	NM_016277.5(RAB23):c.*1817A>G GRCh37: Chr6:57053442 GRCh38: Chr6:57188644	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000910336
Select item 91033724.	NM_016277.5(RAB23):c.*1740C>T GRCh37: Chr6:57053519 GRCh38: Chr6:57188721	BAG2, RAB23		Carpenter syndrome 1	Benign (Jan 12, 2018)	criteria provided, single submitter	VCV000910337
Select item 91154525.	NM_016277.5(RAB23):c.*1706T>C GRCh37: Chr6:57053553 GRCh38: Chr6:57188755	BAG2, RAB23		Carpenter syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter	VCV000911545
Select item 35762526.	NM_016277.5(RAB23):c.1665_1667dup GRCh37: Chr6:57053591-57053592 GRCh38: Chr6:57188793-57188794	BAG2, RAB23		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000357625
Select item 91154627.	NM_016277.5(RAB23):c.*1536T>G GRCh37: Chr6:57053723 GRCh38: Chr6:57188925	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000911546
Select item 91154728.	NM_016277.5(RAB23):c.*1534T>G GRCh37: Chr6:57053725 GRCh38: Chr6:57188927	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000911547
Select item 91154829.	NM_016277.5(RAB23):c.*1494A>G GRCh37: Chr6:57053765 GRCh38: Chr6:57188967	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000911548
Select item 35762630.	NM_016277.5(RAB23):c.*1312A>G GRCh37: Chr6:57053947 GRCh38: Chr6:57189149	RAB23, BAG2		Carpenter syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter	VCV000357626
Select item 35762731.	NM_016277.5(RAB23):c.*1251G>A GRCh37: Chr6:57054008 GRCh38: Chr6:57189210	BAG2, RAB23		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000357627
Select item 35762832.	NM_016277.5(RAB23):c.1180_1183ATCA[3] GRCh37: Chr6:57054071-57054072 GRCh38: Chr6:57189273-57189274	RAB23, BAG2		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000357628
Select item 90859033.	NM_016277.5(RAB23):c.*1131C>G GRCh37: Chr6:57054128 GRCh38: Chr6:57189330	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000908590
Select item 90859134.	NM_016277.5(RAB23):c.*1052T>C GRCh37: Chr6:57054207 GRCh38: Chr6:57189409	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000908591
Select item 35762935.	NM_016277.5(RAB23):c.*984G>A GRCh37: Chr6:57054275 GRCh38: Chr6:57189477	BAG2, RAB23		Carpenter syndrome 1	Likely benign (Jan 12, 2018)	criteria provided, single submitter	VCV000357629
Select item 35763036.	NM_016277.5(RAB23):c.*920C>G GRCh37: Chr6:57054339 GRCh38: Chr6:57189541	BAG2, RAB23		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000357630
Select item 90859237.	NM_016277.5(RAB23):c.*850A>G GRCh37: Chr6:57054409 GRCh38: Chr6:57189611	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000908592
Select item 35763138.	NM_016277.5(RAB23):c.*811G>A GRCh37: Chr6:57054448 GRCh38: Chr6:57189650	BAG2, RAB23		Carpenter syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter	VCV000357631
Select item 90944739.	NM_016277.5(RAB23):c.*795G>A GRCh37: Chr6:57054464 GRCh38: Chr6:57189666	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000909447
Select item 35763240.	NM_016277.5(RAB23):c.*735T>G GRCh37: Chr6:57054524 GRCh38: Chr6:57189726	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000357632
Select item 35763341.	NM_016277.5(RAB23):c.*722T>C GRCh37: Chr6:57054537 GRCh38: Chr6:57189739	BAG2, RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000357633
Select item 90944842.	NM_016277.5(RAB23):c.*677T>C GRCh37: Chr6:57054582 GRCh38: Chr6:57189784	BAG2, RAB23		Carpenter syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter	VCV000909448
Select item 35763443.	NM_016277.5(RAB23):c.*618A>G GRCh37: Chr6:57054641 GRCh38: Chr6:57189843	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000357634
Select item 35763544.	NM_016277.5(RAB23):c.600_603AATT[1] GRCh37: Chr6:57054652-57054655 GRCh38: Chr6:57189854-57189857	RAB23		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000357635
Select item 35763645.	NM_016277.5(RAB23):c.*544G>A GRCh37: Chr6:57054715 GRCh38: Chr6:57189917	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000357636
Select item 35763746.	NM_016277.5(RAB23):c.*416G>C GRCh37: Chr6:57054843 GRCh38: Chr6:57190045	RAB23		Carpenter syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter	VCV000357637
Select item 35763847.	NM_016277.5(RAB23):c.*145T>C GRCh37: Chr6:57055114 GRCh38: Chr6:57190316	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000357638
Select item 91039548.	NM_016277.5(RAB23):c.*117A>G GRCh37: Chr6:57055142 GRCh38: Chr6:57190344	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000910395
Select item 91039649.	NM_016277.5(RAB23):c.*81G>T GRCh37: Chr6:57055178 GRCh38: Chr6:57190380	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000910396
Select item 35763950.	NM_016277.5(RAB23):c.714A>G (p.Ter238=) GRCh37: Chr6:57055259 GRCh38: Chr6:57190461	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000357639
Select item 91039751.	NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) GRCh37: Chr6:57055303 GRCh38: Chr6:57190505	RAB23	T224S	Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000910397
Select item 91039852.	NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) GRCh37: Chr6:57055309 GRCh38: Chr6:57190511	RAB23	Q222E	Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000910398
Select item 35764053.	NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) GRCh37: Chr6:57055354 GRCh38: Chr6:57190556	RAB23	G207S	Carpenter syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter	VCV000357640
Select item 35764154.	NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) GRCh37: Chr6:57055357 GRCh38: Chr6:57190559	RAB23	S206T	Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000357641
Select item 75450555.	NM_016277.5(RAB23):c.575-8_575-5dup GRCh37: Chr6:57055402-57055403 GRCh38: Chr6:57190604-57190605	RAB23		not provided	Likely benign (Oct 3, 2018)	criteria provided, single submitter	VCV000754505
Select item 70181356.	NM_016277.5(RAB23):c.552G>A (p.Thr184=) GRCh37: Chr6:57058662 GRCh38: Chr6:57193864	RAB23		Carpenter syndrome, Carpenter syndrome 1	Likely benign (Dec 31, 2019)	criteria provided, single submitter	VCV000701813
Select item 35764257.	NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) GRCh37: Chr6:57058678 GRCh38: Chr6:57193880	RAB23	E179A	Carpenter syndrome, Carpenter syndrome 1	Conflicting interpretations of pathogenicity (Jan 3, 2020)	criteria provided, conflicting interpretations	VCV000357642
Select item 73834458.	NM_016277.5(RAB23):c.534T>C (p.Ala178=) GRCh37: Chr6:57058680 GRCh38: Chr6:57193882	RAB23		Carpenter syndrome	Benign (Dec 31, 2019)	criteria provided, single submitter	VCV000738344
Select item 43645759.	NM_016277.5(RAB23):c.529A>C (p.Ile177Leu) GRCh37: Chr6:57058685 GRCh38: Chr6:57193887	RAB23	I177L	not specified	Uncertain significance (Aug 10, 2015)	criteria provided, single submitter	VCV000436457
Select item 79734160.	NM_016277.5(RAB23):c.507C>T (p.Tyr169=) GRCh37: Chr6:57058707 GRCh38: Chr6:57193909	RAB23		Carpenter syndrome	Likely benign (Dec 31, 2019)	criteria provided, single submitter	VCV000797341
Select item 98999661.	NM_016277.5(RAB23):c.481+10C>T GRCh37: Chr6:57059558 GRCh38: Chr6:57194760	RAB23		Carpenter syndrome 1	Uncertain significance (Aug 7, 2020)	no assertion criteria provided	VCV000989996
Select item 76108362.	NM_016277.5(RAB23):c.481+9C>T GRCh37: Chr6:57059559 GRCh38: Chr6:57194761	RAB23		not provided	Likely benign (Jul 31, 2018)	criteria provided, single submitter	VCV000761083
Select item 46337563.	NM_016277.5(RAB23):c.481+5A>G GRCh37: Chr6:57059563 GRCh38: Chr6:57194765	RAB23		Carpenter syndrome	Likely benign (Dec 31, 2019)	criteria provided, single submitter	VCV000463375
Select item 41774064.	NM_016277.5(RAB23):c.481G>C (p.Val161Leu) GRCh37: Chr6:57059568 GRCh38: Chr6:57194770	RAB23	V161L	Carpenter syndrome	Pathogenic (Apr 15, 2017)	no assertion criteria provided	VCV000417740
Select item 459165.	NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) GRCh37: Chr6:57059615 GRCh38: Chr6:57194817	RAB23	L145*	Carpenter syndrome, Inborn genetic diseases, not provided, Carpenter syndrome 1	Pathogenic (Nov 6, 2020)	criteria provided, multiple submitters, no conflicts	VCV000004591
Select item 63805766.	NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) GRCh37: Chr6:57059633 GRCh38: Chr6:57194835	RAB23	L139P	Carpenter syndrome 1	Uncertain significance	criteria provided, single submitter	VCV000638057
Select item 459267.	NM_016277.5(RAB23):c.408dup (p.Glu137Ter) GRCh37: Chr6:57059640-57059641 GRCh38: Chr6:57194842-57194843	RAB23	E137*	Carpenter syndrome 1	Pathogenic (Jun 1, 2007)	no assertion criteria provided	VCV000004592
Select item 91160868.	NM_016277.5(RAB23):c.399-14A>T GRCh37: Chr6:57059664 GRCh38: Chr6:57194866	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000911608
Select item 35764369.	NM_016277.5(RAB23):c.398+9G>A GRCh37: Chr6:57061239 GRCh38: Chr6:57196441	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000357643
Select item 91160970.	NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) GRCh37: Chr6:57061257 GRCh38: Chr6:57196459	RAB23	C130S	Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000911609
Select item 76661771.	NM_016277.5(RAB23):c.387T>C (p.Ser129=) GRCh37: Chr6:57061259 GRCh38: Chr6:57196461	RAB23		not provided	Likely benign (Sep 13, 2018)	criteria provided, single submitter	VCV000766617
Select item 56645872.	NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) GRCh37: Chr6:57061309 GRCh38: Chr6:57196511	RAB23	D113N	Carpenter syndrome 1	Uncertain significance (May 4, 2018)	criteria provided, single submitter	VCV000566458
Select item 35764473.	NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) GRCh37: Chr6:57061345 GRCh38: Chr6:57196547	RAB23	S101A	not provided, Carpenter syndrome	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations	VCV000357644
Select item 72836274.	NM_016277.5(RAB23):c.255T>C (p.Cys85=) GRCh37: Chr6:57061391 GRCh38: Chr6:57196593	RAB23		Carpenter syndrome 1, not provided	Likely benign (Oct 8, 2018)	criteria provided, single submitter	VCV000728362
Select item 85870375.	NM_016277.5(RAB23):c.244G>C (p.Ala82Pro) GRCh37: Chr6:57061402 GRCh38: Chr6:57196604	RAB23	A82P	Carpenter syndrome	Uncertain significance (Oct 31, 2019)	criteria provided, single submitter	VCV000858703
Select item 35764576.	NM_016277.5(RAB23):c.242-31ATTG[6] GRCh37: Chr6:57061415-57061416 GRCh38: Chr6:57196617-57196618	RAB23		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000357645
Select item 7049577.	NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) GRCh37: Chr6:57072428 GRCh38: Chr6:57207630	RAB23	R80Q	Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000070495
Select item 90865678.	NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) GRCh37: Chr6:57072444 GRCh38: Chr6:57207646	RAB23	T75S	Carpenter syndrome 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter	VCV000908656
Select item 98999779.	NM_016277.5(RAB23):c.222T>C (p.Ile74=) GRCh37: Chr6:57072445 GRCh38: Chr6:57207647	RAB23		Carpenter syndrome 1	Uncertain significance (Aug 14, 2020)	no assertion criteria provided	VCV000989997
Select item 21197680.	NM_016277.5(RAB23):c.218C>T (p.Ala73Val) GRCh37: Chr6:57072449 GRCh38: Chr6:57207651	RAB23	A73V	Carpenter syndrome 1, Carpenter syndrome, not specified	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations	VCV000211976
Select item 71447081.	NM_016277.5(RAB23):c.171T>C (p.Asp57=) GRCh37: Chr6:57072496 GRCh38: Chr6:57207698	RAB23		Carpenter syndrome	Likely benign (Dec 31, 2019)	criteria provided, single submitter	VCV000714470
Select item 75914282.	NM_016277.5(RAB23):c.156-8T>C GRCh37: Chr6:57072519 GRCh38: Chr6:57207721	RAB23		not provided	Likely benign (Jul 23, 2018)	criteria provided, single submitter	VCV000759142
Select item 90865783.	NM_016277.5(RAB23):c.156-9T>C GRCh37: Chr6:57072520 GRCh38: Chr6:57207722	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000908657
Select item 96311484.	NM_016277.5(RAB23):c.142G>T (p.Glu48Ter) GRCh37: Chr6:57075037 GRCh38: Chr6:57210239	RAB23	E48*	Carpenter syndrome	Pathogenic (Sep 25, 2019)	criteria provided, single submitter	VCV000963114
Select item 90865885.	NM_016277.5(RAB23):c.123C>T (p.Thr41=) GRCh37: Chr6:57075056 GRCh38: Chr6:57210258	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000908658
Select item 90865986.	NM_016277.5(RAB23):c.93A>G (p.Lys31=) GRCh37: Chr6:57075086 GRCh38: Chr6:57210288	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000908659
Select item 93499587.	NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) GRCh37: Chr6:57075089 GRCh38: Chr6:57210291	RAB23	C30W	Carpenter syndrome	Uncertain significance (May 16, 2019)	criteria provided, single submitter	VCV000934995
Select item 1842688.	NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) GRCh37: Chr6:57075092-57075093 GRCh38: Chr6:57210294-57210295	RAB23	Y29*	Carpenter syndrome 1	Pathogenic (Apr 1, 2010)	no assertion criteria provided	VCV000018426
Select item 28085889.	NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) GRCh37: Chr6:57075097 GRCh38: Chr6:57210299	RAB23	R28*	Carpenter syndrome 1, Carpenter syndrome, not provided	Conflicting interpretations of pathogenicity (Jul 5, 2019)	criteria provided, conflicting interpretations	VCV000280858
Select item 77209590.	NM_016277.5(RAB23):c.54A>G (p.Gly18=) GRCh37: Chr6:57075125 GRCh38: Chr6:57210327	RAB23		Carpenter syndrome 1, Carpenter syndrome	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations	VCV000772095
Select item 74509691.	NM_016277.5(RAB23):c.48G>C (p.Gly16=) GRCh37: Chr6:57075131 GRCh38: Chr6:57210333	RAB23		Carpenter syndrome	Likely benign (Dec 31, 2019)	criteria provided, single submitter	VCV000745096
Select item 53218492.	NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) GRCh37: Chr6:57075154 GRCh38: Chr6:57210356	RAB23	A9T	Carpenter syndrome 1	Uncertain significance (Oct 2, 2017)	criteria provided, single submitter	VCV000532184
Select item 95480693.	NM_016277.5(RAB23):c.17del (p.Met6fs) GRCh37: Chr6:57075162 GRCh38: Chr6:57210364	RAB23	M6fs	Carpenter syndrome	Pathogenic (Sep 30, 2019)	criteria provided, single submitter	VCV000954806
Select item 78063994.	NM_016277.5(RAB23):c.15T>C (p.Asp5=) GRCh37: Chr6:57075164 GRCh38: Chr6:57210366	RAB23		not provided	Likely benign (Jun 16, 2017)	criteria provided, single submitter	VCV000780639
Select item 66488795.	NM_016277.5(RAB23):c.5del (p.Leu2fs) GRCh37: Chr6:57075174 GRCh38: Chr6:57210376	RAB23	L2fs	Carpenter syndrome	Pathogenic (Oct 1, 2018)	criteria provided, single submitter	VCV000664887
Select item 79435096.	NM_016277.5(RAB23):c.4T>C (p.Leu2=) GRCh37: Chr6:57075175 GRCh38: Chr6:57210377	RAB23		not provided	Likely benign (Nov 10, 2018)	criteria provided, single submitter	VCV000794350
Select item 35764697.	NM_016277.5(RAB23):c.-23C>T GRCh37: Chr6:57075201 GRCh38: Chr6:57210403	RAB23		Carpenter syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter	VCV000357646
Select item 35764798.	NM_016277.5(RAB23):c.-49C>T GRCh37: Chr6:57075227 GRCh38: Chr6:57210429	RAB23		Carpenter syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000357647
Select item 83212599.	NC_000006.12:g.(?_57186982)_(57222324_?)del GRCh37: Chr6:57051780-57087122	RAB23		Carpenter syndrome	Pathogenic (Oct 4, 2019)	criteria provided, single submitter	VCV000832125
Select item 625706100.	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) GRCh37: Chr6:29455465-81447367	ABCF1, CRISP1, AGER, AIF1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, BMP5, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCND3, CDC5L, CDKN1A, CDSN, CLIC1, CLPS, COL9A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, EEF1A1, CYP21A2, DAXX, DNAH8, DXO, SLC29A1, FANCE, FKBP5, GABBR1, GCLC, GLO1, GLP1R, GNL1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HCRTR2, HLA-A, HLA-B, KIFC1, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, IL17A, IMPG1, ITPR3, LTA, LTB, MCM3, MDFI, MEA1, MEP1A, MICB, MLN, MOCS1, MOG, MSH5, MMUT, MYO6, RPL10A, NEU1, NFKBIE, NFKBIL1, NFYA, NOTCH4, PBX2, PEX6, PGC, PGK2, PHF1, PIM1, PKHD1, POLH, MAPK13, POU5F1, PPARD, PPP1R10, PPP2R5D, PSMB8, PSMB9, PTK7, RGL2, PRPH2, RHAG, RING1, BRD2, RNF5, RPS10, RPS18, RXRB, VPS52, SRSF3, SKIV2L, SNRPC, SRF, SRPK1, ELOVL4, TAF11, TAP1, TCP11, TAP2, TAPBP, TBCC, TCF19, PPP1R11, TEAD3, TFAP2B, TNF, TNXB, CRISP2, TTK, TULP1, PTP4A1, VARS1, VEGFA, ZNF76, TRIM26, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, DHX16, SUPT3H, GCM1, KCNK5, B3GALT4, SYNGAP1, STK19, IER3, RNF8, WDR46, ZBTB22, HMGN3, PPT2, NCR2, MED20, SLC25A27, BAG2, POLR1C, MAD2L1BP, MDC1, TRAM2, CUL7, TRIM10, FLOT1, RCAN2, CRISP3, PFDN6, UBD, FRS3, AGPAT1, DNPH1, TSBP1, CNPY3, SLC22A7, HCP5, EHMT2, APOBEC2, STK38, TRIM31, CAPN11, NUDT3, NRM, CILK1, ENPP4, RIMS1, CMTR1, CUL9, ANKS1A, UBR2, PHF3, DAAM2, BICRAL, DDAH2, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, YIPF3, USP49, ZNF451, SENP6, FBXO9, SLC17A5, FILIP1, BRPF3, GNMT, TNFRSF21, TINAG, MRPS18B, TMEM14A, C6orf15, PRICKLE4, PACSIN1, ETV7, POLR1H, DEF6, SNHG32, MRPL2, CYP39A1, LGSN, CUTA, PPIL1, RAB23, CLIC5, TREM2, TREM1, HMGCLL1, CCHCR1, GTPBP2, UHRF1BP1, PHIP, CENPQ, MRPS18A, MRPS10, LRRC1, TMEM63B, DDX43, TBC1D22B, TMEM30A, SAYSD1, LMBRD1, TRERF1, APOM, BTNL2, KCNQ5, FAM135A, TRIM39, VARS2, LRFN2, AARS2, XPO5, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, LY6G6D, ENPP5, ELOVL5, SMAP1, ZFAND3, GPSM3, FKBPL, ILRUN, MRPL14, DLK2, OGFRL1, TREML2, RPP21, ATAT1, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, TFAP2D, PRRT1, EGFL8, COL21A1, SH3BGRL2, KCNK16, UQCC2, TTBK1, PAQR8, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, MLIP, TJAP1, IL17F, EFHC1, BTBD9, CGAS, FOXP4, KLHDC3, SLC26A8, MAS1L, IP6K3, RN7SK, TAF8, IRAK1BP1, B3GAT2, SDHAF4, CD109, C6orf141, TRIM40, MUCL3, KHDC3L, CCDC167, LCA5, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, TUBB, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, DEFB110, DEFB112, DEFB113, DEFB114, CLPSL1, NCR3, LY6G6F, MDGA1, ADGRF1, HCG22, PNPLA1, TREML4, RPL7L1, DPPA5, TREML1, EYS, ZFP57, SLC35B2, HCG26, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, MUC21, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, PTCHD4, MIR133B, C6orf132, MIR877, KHDC1L, TOMM6, ANKRD66, ERVH-3, MICA, MUC22, LOC101926915, LOC101927189		not provided	Pathogenic (Nov 1, 2018)	criteria provided, single submitter	VCV000625706

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