RAB23[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1455841.	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 GRCh37: Chr6:50938895-57297586 GRCh38: Chr6:50971182-57432788	BAG2, BEND6, BMP5, CILK1, COL21A1, DST, DST-AS1, EFHC1, ELOVL5, FAM83B, FBXO9, GCLC, GCLC-AS1, GCM1, GFRAL, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, HCRTR2, HMGCLL1, IL17A, IL17F, KIAA1586, KILH, KLHL31, LINC01564, LINC03001, LINCMD1, LOC101927082, LOC101927189, LOC110120617, LOC110121250, LOC111365194, LOC113175006, LOC113175007, LOC121132688, LOC121132689, LOC121740649, LOC121740650, LOC121740651, LOC121740652, LOC121740653, LOC123744820, LOC123744821, LOC123744822, LOC123744823, LOC123744824, LOC123744825, LOC123744826, LOC123744827, LOC123744828, LOC123744829, LOC123744830, LOC123744831, LOC126859690, LOC126859691, LOC126859692, LOC126859693, LOC126859694, LOC126859695, LOC126859696, LOC126859697, LOC126859698, LOC128031835, LOC128092246, LOC730101, LRRC1, MCM3, MIR133B, MIR206, MIR548U, MIR5685, MLIP, MLIP-AS1, MLIP-IT1, PAQR8, PKHD1, PRIM2, RAB23, RN7SK, TINAG, TMEM14A, TRAM2, TRAM2-AS1, ZNF451, ZNF451-AS1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 18095102.	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2 GRCh38: Chr6:53151508-58400428	BAG2, BEND6, BMP5, COL21A1, DST, DST-AS1, ELOVL5, FAM83B, GCLC, GCLC-AS1, GFRAL, HCRTR2, HMGCLL1, KIAA1586, KILH, KLHL31, LINC00680, LINC01564, LINC03001, LOC101927189, LOC113175007, LOC121132689, LOC121740652, LOC121740653, LOC123744825, LOC123744826, LOC123744827, LOC123744828, LOC123744829, LOC123744830, LOC123744831, LOC126088080, LOC126859694, LOC126859695, LOC126859696, LOC126859697, LOC126859698, LRRC1, MIR548U, MIR5685, MLIP, MLIP-AS1, MLIP-IT1, PRIM2, RAB23, TINAG, TRA-AGC12-3, TRA-AGC13-2, TRA-AGC16-1, TRA-AGC24-1, TRI-AAT1-1, TRM-CAT7-1, ZNF451, ZNF451-AS1		Orofacial cleft	Uncertain significance	no assertion criteria provided
Select item 1480023.	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3 GRCh37: Chr6:53796341-68859642 GRCh38: Chr6:53931543-68149750	BAG2, BEND6, BMP5, COL21A1, DST, DST-AS1, ERVH-3, EYS, FAM83B, FKBP1C, GFRAL, HCRTR2, HMGCLL1, KHDRBS2, KIAA1586, LGSN, LINC00680, LINC03001, LOC101927189, LOC102723883, LOC111365145, LOC113175010, LOC113175011, LOC113175012, LOC121132689, LOC121132690, LOC121132691, LOC121740653, LOC121740654, LOC123744829, LOC123744830, LOC123744831, LOC123744832, LOC123744833, LOC123744834, LOC123744835, LOC123744836, LOC123744837, LOC126088080, LOC126088089, LOC126088090, LOC126859696, LOC126859697, LOC126859698, LOC126859699, LOC126859700, LOC126859701, LOC126859702, LOC126859703, LOC128125822, MIR548U, MLIP, MLIP-AS1, MLIP-IT1, MTRNR2L9, PHF3, PRIM2, PTP4A1, RAB23, SCAT8, TINAG, TRA-AGC12-3, TRA-AGC13-2, TRA-AGC16-1, TRA-AGC24-1, TRI-AAT1-1, TRM-CAT7-1, ZC3H11C, ZNF451, ZNF451-AS1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1443694.	GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1 GRCh37: Chr6:56177722-57171010 GRCh38: Chr6:56312924-57306212	BAG2, BEND6, COL21A1, DST, DST-AS1, KIAA1586, LINC03001, LOC123744830, LOC123744831, LOC126859698, PRIM2, RAB23, ZNF451, ZNF451-AS1		See cases	Uncertain significance (Dec 30, 2009)	no assertion criteria provided
Select item 1465065.	GRCh38/hg38 6p12.1-11.2(chr6:56639682-57432788)x3 GRCh37: Chr6:56504480-57297586 GRCh38: Chr6:56639682-57432788	BAG2, BEND6, DST, DST-AS1, KIAA1586, LINC03001, LOC123744830, LOC123744831, LOC126859698, MIR548U, PRIM2, RAB23, ZNF451, ZNF451-AS1		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 9085196.	NM_004282.4(BAG2):c.*2941T>C GRCh37: Chr6:57051929 GRCh38: Chr6:57187131	RAB23, BAG2		RAB23-related Carpenter syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 9085207.	NM_004282.4(BAG2):c.*2973T>C GRCh37: Chr6:57051961 GRCh38: Chr6:57187163	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9085218.	NM_004282.4(BAG2):c.*3082A>G GRCh37: Chr6:57052070 GRCh38: Chr6:57187272	BAG2, RAB23		RAB23-related Carpenter syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 9085229.	NM_004282.4(BAG2):c.*3142C>G GRCh37: Chr6:57052130 GRCh38: Chr6:57187332	RAB23, BAG2		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90936510.	NM_004282.4(BAG2):c.*3238G>A GRCh37: Chr6:57052226 GRCh38: Chr6:57187428	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90936611.	NM_004282.4(BAG2):c.*3395A>G GRCh37: Chr6:57052383 GRCh38: Chr6:57187585	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90936712.	NM_004282.4(BAG2):c.*3502G>T GRCh37: Chr6:57052490 GRCh38: Chr6:57187692	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90936813.	NM_004282.4(BAG2):c.*3518C>T GRCh37: Chr6:57052506 GRCh38: Chr6:57187708	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Feb 9, 2018)	criteria provided, single submitter
Select item 90936914.	NM_004282.4(BAG2):c.*3590C>T GRCh37: Chr6:57052578 GRCh38: Chr6:57187780	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90937015.	NM_004282.4(BAG2):c.*3685C>T GRCh37: Chr6:57052673 GRCh38: Chr6:57187875	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90937116.	NM_004282.4(BAG2):c.*3786T>C GRCh37: Chr6:57052774 GRCh38: Chr6:57187976	BAG2, RAB23		RAB23-related Carpenter syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90937217.	NM_004282.4(BAG2):c.*3846C>T GRCh37: Chr6:57052834 GRCh38: Chr6:57188036	RAB23, BAG2		RAB23-related Carpenter syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91033018.	NM_004282.4(BAG2):c.*3930G>T GRCh37: Chr6:57052918 GRCh38: Chr6:57188120	RAB23, BAG2		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91033119.	NM_004282.4(BAG2):c.*3952A>G GRCh37: Chr6:57052940 GRCh38: Chr6:57188142	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91033220.	NM_004282.4(BAG2):c.*3998A>G GRCh37: Chr6:57052986 GRCh38: Chr6:57188188	BAG2, RAB23		RAB23-related Carpenter syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91033321.	NM_004282.4(BAG2):c.*4026A>G GRCh37: Chr6:57053014 GRCh38: Chr6:57188216	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91033422.	NM_004282.4(BAG2):c.*4204T>C GRCh37: Chr6:57053192 GRCh38: Chr6:57188394	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91033523.	NM_004282.4(BAG2):c.*4263C>T GRCh37: Chr6:57053251 GRCh38: Chr6:57188453	RAB23, BAG2		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91033624.	NM_004282.4(BAG2):c.*4454T>C GRCh37: Chr6:57053442 GRCh38: Chr6:57188644	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91033725.	NM_004282.4(BAG2):c.*4531G>A GRCh37: Chr6:57053519 GRCh38: Chr6:57188721	RAB23, BAG2		RAB23-related Carpenter syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91154526.	NM_004282.4(BAG2):c.*4565A>G GRCh37: Chr6:57053553 GRCh38: Chr6:57188755	RAB23, BAG2		RAB23-related Carpenter syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35762527.	NM_004282.4(BAG2):c.4604_4606dup GRCh37: Chr6:57053591-57053592 GRCh38: Chr6:57188793-57188794	BAG2, RAB23		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 91154628.	NM_004282.4(BAG2):c.*4735A>C GRCh37: Chr6:57053723 GRCh38: Chr6:57188925	RAB23, BAG2		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91154729.	NM_004282.4(BAG2):c.*4737A>C GRCh37: Chr6:57053725 GRCh38: Chr6:57188927	RAB23, BAG2		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91154830.	NM_004282.4(BAG2):c.*4777T>C GRCh37: Chr6:57053765 GRCh38: Chr6:57188967	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35762631.	NM_004282.4(BAG2):c.*4959T>C GRCh37: Chr6:57053947 GRCh38: Chr6:57189149	BAG2, RAB23		Carpenter syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35762732.	NM_004282.4(BAG2):c.*5020C>T GRCh37: Chr6:57054008 GRCh38: Chr6:57189210	RAB23, BAG2		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35762833.	NM_004282.4(BAG2):c.*5084TGAT[3] GRCh37: Chr6:57054071-57054072 GRCh38: Chr6:57189273-57189274	BAG2, RAB23		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90859034.	NM_004282.4(BAG2):c.*5140G>C GRCh37: Chr6:57054128 GRCh38: Chr6:57189330	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90859135.	NM_004282.4(BAG2):c.*5219A>G GRCh37: Chr6:57054207 GRCh38: Chr6:57189409	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35762936.	NM_004282.4(BAG2):c.*5287C>T GRCh37: Chr6:57054275 GRCh38: Chr6:57189477	RAB23, BAG2		RAB23-related Carpenter syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35763037.	NM_004282.4(BAG2):c.*5351G>C GRCh37: Chr6:57054339 GRCh38: Chr6:57189541	RAB23, BAG2		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90859238.	NM_004282.4(BAG2):c.*5421T>C GRCh37: Chr6:57054409 GRCh38: Chr6:57189611	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35763139.	NM_004282.4(BAG2):c.*5460C>T GRCh37: Chr6:57054448 GRCh38: Chr6:57189650	RAB23, BAG2		RAB23-related Carpenter syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90944740.	NM_004282.4(BAG2):c.*5476C>T GRCh37: Chr6:57054464 GRCh38: Chr6:57189666	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35763241.	NM_004282.4(BAG2):c.*5536A>C GRCh37: Chr6:57054524 GRCh38: Chr6:57189726	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35763342.	NM_004282.4(BAG2):c.*5549A>G GRCh37: Chr6:57054537 GRCh38: Chr6:57189739	RAB23, BAG2		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90944843.	NM_004282.4(BAG2):c.*5594A>G GRCh37: Chr6:57054582 GRCh38: Chr6:57189784	BAG2, RAB23		RAB23-related Carpenter syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35763444.	NM_016277.5(RAB23):c.*618A>G GRCh37: Chr6:57054641 GRCh38: Chr6:57189843	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35763545.	NM_016277.5(RAB23):c.*600AATT[1] GRCh37: Chr6:57054652-57054655 GRCh38: Chr6:57189854-57189857	RAB23		Carpenter syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35763646.	NM_016277.5(RAB23):c.*544G>A GRCh37: Chr6:57054715 GRCh38: Chr6:57189917	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35763747.	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
Select item 35763848.	NM_016277.5(RAB23):c.*145T>C GRCh37: Chr6:57055114 GRCh38: Chr6:57190316	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91039549.	NM_016277.5(RAB23):c.*117A>G GRCh37: Chr6:57055142 GRCh38: Chr6:57190344	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91039650.	NM_016277.5(RAB23):c.*81G>T GRCh37: Chr6:57055178 GRCh38: Chr6:57190380	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35763951.	NM_016277.5(RAB23):c.714A>G (p.Ter238=) GRCh37: Chr6:57055259 GRCh38: Chr6:57190461	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 105501852.	NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) GRCh37: Chr6:57055261 GRCh38: Chr6:57190463	RAB23		Carpenter syndrome, See cases	Conflicting interpretations of pathogenicity (Dec 8, 2021)	criteria provided, conflicting interpretations
Select item 222810953.	NM_016277.5(RAB23):c.705C>A (p.Ser235Arg) GRCh37: Chr6:57055268 GRCh38: Chr6:57190470	RAB23	S235R	Inborn genetic diseases	Uncertain significance (Dec 29, 2020)	criteria provided, single submitter
Select item 115804454.	NM_016277.5(RAB23):c.699C>T (p.Ser233=) GRCh37: Chr6:57055274 GRCh38: Chr6:57190476	RAB23		Carpenter syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 155210755.	NM_016277.5(RAB23):c.693T>C (p.Phe231=) GRCh37: Chr6:57055280 GRCh38: Chr6:57190482	RAB23		Carpenter syndrome	Likely benign (Feb 12, 2021)	criteria provided, single submitter
Select item 110984456.	NM_016277.5(RAB23):c.675G>A (p.Lys225=) GRCh37: Chr6:57055298 GRCh38: Chr6:57190500	RAB23		Carpenter syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 91039757.	NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) GRCh37: Chr6:57055303 GRCh38: Chr6:57190505	RAB23	T224S	Carpenter syndrome, RAB23-related Carpenter syndrome	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91039858.	NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) GRCh37: Chr6:57055309 GRCh38: Chr6:57190511	RAB23	Q222E	RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 115544459.	NM_016277.5(RAB23):c.642C>T (p.Val214=) GRCh37: Chr6:57055331 GRCh38: Chr6:57190533	RAB23		Carpenter syndrome	Likely benign (Nov 15, 2021)	criteria provided, single submitter
Select item 109150560.	NM_016277.5(RAB23):c.627C>T (p.Leu209=) GRCh37: Chr6:57055346 GRCh38: Chr6:57190548	RAB23		Carpenter syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 35764061.	NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) GRCh37: Chr6:57055354 GRCh38: Chr6:57190556	RAB23	G207S	not provided, Carpenter syndrome, not specified, RAB23-related Carpenter syndrome	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35764162.	NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) GRCh37: Chr6:57055357 GRCh38: Chr6:57190559	RAB23	S206T	RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 220553963.	NM_016277.5(RAB23):c.611A>G (p.Gln204Arg) GRCh37: Chr6:57055362 GRCh38: Chr6:57190564	RAB23	Q204R	Inborn genetic diseases	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 208602064.	NM_016277.5(RAB23):c.607G>A (p.Gly203Ser) GRCh37: Chr6:57055366 GRCh38: Chr6:57190568	RAB23	G203S	Carpenter syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 115804365.	NM_016277.5(RAB23):c.606C>T (p.Ser202=) GRCh37: Chr6:57055367 GRCh38: Chr6:57190569	RAB23		Carpenter syndrome	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 111740866.	NM_016277.5(RAB23):c.603C>T (p.His201=) GRCh37: Chr6:57055370 GRCh38: Chr6:57190572	RAB23		Carpenter syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 109906967.	NM_016277.5(RAB23):c.594T>G (p.Gly198=) GRCh37: Chr6:57055379 GRCh38: Chr6:57190581	RAB23		Carpenter syndrome	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 135449768.	NM_016277.5(RAB23):c.590C>T (p.Ser197Phe) GRCh37: Chr6:57055383 GRCh38: Chr6:57190585	RAB23	S197F	Carpenter syndrome	Uncertain significance (Sep 8, 2021)	criteria provided, single submitter
Select item 155063269.	NM_016277.5(RAB23):c.582T>C (p.Phe194=) GRCh37: Chr6:57055391 GRCh38: Chr6:57190593	RAB23		Carpenter syndrome	Likely benign (Oct 23, 2021)	criteria provided, single submitter
Select item 167066570.	NM_016277.5(RAB23):c.576T>G (p.Gly192=) GRCh37: Chr6:57055397 GRCh38: Chr6:57190599	RAB23		Carpenter syndrome	Likely benign (Jan 11, 2021)	criteria provided, single submitter
Select item 75450571.	NM_016277.5(RAB23):c.575-8_575-5dup GRCh37: Chr6:57055402-57055403 GRCh38: Chr6:57190604-57190605	RAB23		not provided, Carpenter syndrome	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 201130672.	NM_016277.5(RAB23):c.575-5T>A GRCh37: Chr6:57055403 GRCh38: Chr6:57190605	RAB23		Carpenter syndrome	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 111973073.	NM_016277.5(RAB23):c.575-7T>A GRCh37: Chr6:57055405 GRCh38: Chr6:57190607	RAB23		Carpenter syndrome	Likely benign (Jan 28, 2019)	criteria provided, single submitter
Select item 168380374.	NM_016277.5(RAB23):c.575-170C>G GRCh37: Chr6:57055568 GRCh38: Chr6:57190770	RAB23		not provided	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 120115975.	NM_016277.5(RAB23):c.574+28G>A GRCh37: Chr6:57058612 GRCh38: Chr6:57193814	RAB23		not provided	Likely benign (Feb 5, 2019)	criteria provided, single submitter
Select item 109105776.	NM_016277.5(RAB23):c.574+10T>C GRCh37: Chr6:57058630 GRCh38: Chr6:57193832	RAB23		Carpenter syndrome	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 112430377.	NM_016277.5(RAB23):c.574+8C>T GRCh37: Chr6:57058632 GRCh38: Chr6:57193834	RAB23		Carpenter syndrome	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 241659178.	NM_016277.5(RAB23):c.574+7A>G GRCh37: Chr6:57058633 GRCh38: Chr6:57193835	RAB23		Carpenter syndrome	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 121046279.	NM_016277.5(RAB23):c.559del (p.Ser187fs) GRCh37: Chr6:57058655 GRCh38: Chr6:57193857	RAB23	S187fs	RAB23-related Carpenter syndrome	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 110955880.	NM_016277.5(RAB23):c.555T>C (p.His185=) GRCh37: Chr6:57058659 GRCh38: Chr6:57193861	RAB23		Carpenter syndrome	Likely benign (Mar 31, 2021)	criteria provided, single submitter
Select item 153880981.	NM_016277.5(RAB23):c.552G>C (p.Thr184=) GRCh37: Chr6:57058662 GRCh38: Chr6:57193864	RAB23		Carpenter syndrome	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 70181382.	NM_016277.5(RAB23):c.552G>A (p.Thr184=) GRCh37: Chr6:57058662 GRCh38: Chr6:57193864	RAB23		Carpenter syndrome	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 109896783.	NM_016277.5(RAB23):c.551C>T (p.Thr184Met) GRCh37: Chr6:57058663 GRCh38: Chr6:57193865	RAB23	T184M	Carpenter syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 157601584.	NM_016277.5(RAB23):c.549A>G (p.Leu183=) GRCh37: Chr6:57058665 GRCh38: Chr6:57193867	RAB23		Carpenter syndrome	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 160639585.	NM_016277.5(RAB23):c.547C>T (p.Leu183=) GRCh37: Chr6:57058667 GRCh38: Chr6:57193869	RAB23		Carpenter syndrome	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 35764286.	NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) GRCh37: Chr6:57058678 GRCh38: Chr6:57193880	RAB23	E179A	RAB23-related Carpenter syndrome, Carpenter syndrome	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 73834487.	NM_016277.5(RAB23):c.534T>C (p.Ala178=) GRCh37: Chr6:57058680 GRCh38: Chr6:57193882	RAB23		Carpenter syndrome	Benign (Oct 20, 2022)	criteria provided, single submitter
Select item 43645788.	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
Select item 136684189.	NM_016277.5(RAB23):c.526C>T (p.Gln176Ter) GRCh37: Chr6:57058688 GRCh38: Chr6:57193890	RAB23	Q176*	Carpenter syndrome	Pathogenic (Mar 24, 2021)	criteria provided, single submitter
Select item 211415190.	NM_016277.5(RAB23):c.522dup (p.Gln175fs) GRCh37: Chr6:57058691-57058692 GRCh38: Chr6:57193893-57193894	RAB23	Q175fs	Carpenter syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 156678991.	NM_016277.5(RAB23):c.510T>C (p.Leu170=) GRCh37: Chr6:57058704 GRCh38: Chr6:57193906	RAB23		Carpenter syndrome	Likely benign (Jun 17, 2021)	criteria provided, single submitter
Select item 79734192.	NM_016277.5(RAB23):c.507C>T (p.Tyr169=) GRCh37: Chr6:57058707 GRCh38: Chr6:57193909	RAB23		Carpenter syndrome	Likely benign (Jan 16, 2019)	criteria provided, single submitter
Select item 149865493.	NM_016277.5(RAB23):c.482-1_486del GRCh37: Chr6:57058728-57058733 GRCh38: Chr6:57193930-57193935	RAB23		Carpenter syndrome	Likely pathogenic (Aug 7, 2021)	criteria provided, single submitter
Select item 162556094.	NM_016277.5(RAB23):c.482-7A>G GRCh37: Chr6:57058739 GRCh38: Chr6:57193941	RAB23		Carpenter syndrome	Likely benign (Jan 3, 2021)	criteria provided, single submitter
Select item 107734695.	NM_016277.5(RAB23):c.482-8T>G GRCh37: Chr6:57058740 GRCh38: Chr6:57193942	RAB23		Carpenter syndrome	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 158625496.	NM_016277.5(RAB23):c.482-9T>G GRCh37: Chr6:57058741 GRCh38: Chr6:57193943	RAB23		Carpenter syndrome	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 166288397.	NM_016277.5(RAB23):c.482-13C>G GRCh37: Chr6:57058745 GRCh38: Chr6:57193947	RAB23		Carpenter syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 121063598.	NM_016277.5(RAB23):c.482-66T>A GRCh37: Chr6:57058798 GRCh38: Chr6:57194000	RAB23		not provided	Likely benign (Feb 5, 2019)	criteria provided, single submitter
Select item 119835599.	NM_016277.5(RAB23):c.481+68_481+70del GRCh37: Chr6:57059498-57059500 GRCh38: Chr6:57194700-57194702	RAB23		not provided	Likely benign (Mar 16, 2019)	criteria provided, single submitter
Select item 2190638100.	NM_016277.5(RAB23):c.481+17G>A GRCh37: Chr6:57059551 GRCh38: Chr6:57194753	RAB23		Carpenter syndrome	Benign (Jun 19, 2022)	criteria provided, single submitter

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