ClinVar for MedGen (Select 1644017) - ClinVar

Links from MedGen

Items: 78

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24353491.	NM_016277.5(RAB23):c.-66+5021dup GRCh37: Chr6:57081502-57081503 GRCh38: Chr6:57216704-57216705	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (May 18, 2021)	criteria provided, single submitter
Select item 12104622.	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 12101143.	NM_016277.5(RAB23):c.398+1G>A GRCh37: Chr6:57061247 GRCh38: Chr6:57196449	RAB23		RAB23-related Carpenter syndrome	Pathogenic	criteria provided, single submitter
Select item 10989674.	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 10893795.	NM_016277.5(RAB23):c.51T>C (p.Asn17=) GRCh37: Chr6:57075128 GRCh38: Chr6:57210330	RAB23		Carpenter syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 10550186.	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 10500247.	NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) GRCh37: Chr6:57061300 GRCh38: Chr6:57196502	RAB23	T116A	Carpenter syndrome, Inborn genetic diseases, RAB23-related Carpenter syndrome	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9899978.	NM_016277.5(RAB23):c.222T>C (p.Ile74=) GRCh37: Chr6:57072445 GRCh38: Chr6:57207647	RAB23		Carpenter syndrome	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 9899969.	NM_016277.5(RAB23):c.481+10C>T GRCh37: Chr6:57059558 GRCh38: Chr6:57194760	RAB23		Carpenter syndrome	Likely benign (May 9, 2021)	criteria provided, single submitter
Select item 93499510.	NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) GRCh37: Chr6:57075089 GRCh38: Chr6:57210291	RAB23	C30W	Carpenter syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 91160911.	NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) GRCh37: Chr6:57061257 GRCh38: Chr6:57196459	RAB23	C130S	RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91160812.	NM_016277.5(RAB23):c.399-14A>T GRCh37: Chr6:57059664 GRCh38: Chr6:57194866	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91154813.	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 91154714.	NM_004282.4(BAG2):c.*4737A>C GRCh37: Chr6:57053725 GRCh38: Chr6:57188927	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91154615.	NM_004282.4(BAG2):c.*4735A>C GRCh37: Chr6:57053723 GRCh38: Chr6:57188925	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91154516.	NM_004282.4(BAG2):c.*4565A>G GRCh37: Chr6:57053553 GRCh38: Chr6:57188755	BAG2, RAB23		RAB23-related Carpenter syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91039817.	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 91039718.	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 91039619.	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 91039520.	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 91033721.	NM_004282.4(BAG2):c.*4531G>A GRCh37: Chr6:57053519 GRCh38: Chr6:57188721	BAG2, RAB23		RAB23-related Carpenter syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91033622.	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 91033523.	NM_004282.4(BAG2):c.*4263C>T GRCh37: Chr6:57053251 GRCh38: Chr6:57188453	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91033424.	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 91033325.	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 91033226.	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 91033127.	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 91033028.	NM_004282.4(BAG2):c.*3930G>T GRCh37: Chr6:57052918 GRCh38: Chr6:57188120	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90944829.	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 90944730.	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 90937231.	NM_004282.4(BAG2):c.*3846C>T GRCh37: Chr6:57052834 GRCh38: Chr6:57188036	BAG2, RAB23		RAB23-related Carpenter syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90937132.	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 90937033.	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 90936934.	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 90936835.	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 90936736.	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 90936637.	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 90936538.	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 90865939.	NM_016277.5(RAB23):c.93A>G (p.Lys31=) GRCh37: Chr6:57075086 GRCh38: Chr6:57210288	RAB23		Carpenter syndrome, RAB23-related Carpenter syndrome	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 90865840.	NM_016277.5(RAB23):c.123C>T (p.Thr41=) GRCh37: Chr6:57075056 GRCh38: Chr6:57210258	RAB23		Carpenter syndrome, RAB23-related Carpenter syndrome	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 90865741.	NM_016277.5(RAB23):c.156-9T>C GRCh37: Chr6:57072520 GRCh38: Chr6:57207722	RAB23		Carpenter syndrome, RAB23-related Carpenter syndrome	Conflicting interpretations of pathogenicity (Nov 30, 2021)	criteria provided, conflicting interpretations
Select item 90865642.	NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) GRCh37: Chr6:57072444 GRCh38: Chr6:57207646	RAB23	T75S	RAB23-related Carpenter syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90859243.	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 90859144.	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 90859045.	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 90852246.	NM_004282.4(BAG2):c.*3142C>G GRCh37: Chr6:57052130 GRCh38: Chr6:57187332	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90852147.	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 90852048.	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 90851949.	NM_004282.4(BAG2):c.*2941T>C GRCh37: Chr6:57051929 GRCh38: Chr6:57187131	BAG2, RAB23		RAB23-related Carpenter syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 77209550.	NM_016277.5(RAB23):c.54A>G (p.Gly18=) GRCh37: Chr6:57075125 GRCh38: Chr6:57210327	RAB23		Carpenter syndrome, RAB23-related Carpenter syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 74509651.	NM_016277.5(RAB23):c.48G>C (p.Gly16=) GRCh37: Chr6:57075131 GRCh38: Chr6:57210333	RAB23		Carpenter syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 73834452.	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 72836253.	NM_016277.5(RAB23):c.255T>C (p.Cys85=) GRCh37: Chr6:57061391 GRCh38: Chr6:57196593	RAB23		Carpenter syndrome	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 71447054.	NM_016277.5(RAB23):c.171T>C (p.Asp57=) GRCh37: Chr6:57072496 GRCh38: Chr6:57207698	RAB23		Carpenter syndrome	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 70181355.	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 63805756.	NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) GRCh37: Chr6:57059633 GRCh38: Chr6:57194835	RAB23	L139P	RAB23-related Carpenter syndrome	Uncertain significance	criteria provided, single submitter
Select item 53218457.	NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) GRCh37: Chr6:57075154 GRCh38: Chr6:57210356	RAB23	A9T	Carpenter syndrome	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 35764758.	NM_016277.5(RAB23):c.-49C>T GRCh37: Chr6:57075227 GRCh38: Chr6:57210429	RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35764659.	NM_016277.5(RAB23):c.-23C>T GRCh37: Chr6:57075201 GRCh38: Chr6:57210403	RAB23		not provided, RAB23-related Carpenter syndrome	Benign/Likely benign (Feb 14, 2019)	criteria provided, multiple submitters, no conflicts
Select item 35764460.	NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) GRCh37: Chr6:57061345 GRCh38: Chr6:57196547	RAB23	S101A	Carpenter syndrome, not provided, RAB23-related Carpenter syndrome	Conflicting interpretations of pathogenicity (Jun 27, 2023)	criteria provided, conflicting interpretations
Select item 35764361.	NM_016277.5(RAB23):c.398+9G>A GRCh37: Chr6:57061239 GRCh38: Chr6:57196441	RAB23		RAB23-related Carpenter syndrome, Carpenter syndrome	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 35764262.	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 35764163.	NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) GRCh37: Chr6:57055357 GRCh38: Chr6:57190559	RAB23	S206T	Inborn genetic diseases, RAB23-related Carpenter syndrome	Uncertain significance (Mar 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35764064.	NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) GRCh37: Chr6:57055354 GRCh38: Chr6:57190556	RAB23	G207S	not specified, not provided, RAB23-related Carpenter syndrome, Carpenter syndrome	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35763965.	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 35763866.	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 35763667.	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 35763468.	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 35763369.	NM_004282.4(BAG2):c.*5549A>G GRCh37: Chr6:57054537 GRCh38: Chr6:57189739	BAG2, RAB23		RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35763270.	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 35763171.	NM_004282.4(BAG2):c.*5460C>T GRCh37: Chr6:57054448 GRCh38: Chr6:57189650	BAG2, RAB23		RAB23-related Carpenter syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35762972.	NM_004282.4(BAG2):c.*5287C>T GRCh37: Chr6:57054275 GRCh38: Chr6:57189477	BAG2, RAB23		RAB23-related Carpenter syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 28085873.	NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) GRCh37: Chr6:57075097 GRCh38: Chr6:57210299	RAB23	R28*	Carpenter syndrome, not provided, RAB23-related Carpenter syndrome	Conflicting interpretations of pathogenicity (Jun 6, 2023)	criteria provided, conflicting interpretations
Select item 21197674.	NM_016277.5(RAB23):c.218C>T (p.Ala73Val) GRCh37: Chr6:57072449 GRCh38: Chr6:57207651	RAB23	A73V	Carpenter syndrome, not provided, not specified, RAB23-related Carpenter syndrome	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 7049575.	NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) GRCh37: Chr6:57072428 GRCh38: Chr6:57207630	RAB23	R80Q	RAB23-related Carpenter syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 1842676.	NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) GRCh37: Chr6:57075092-57075093 GRCh38: Chr6:57210294-57210295	RAB23	Y29*	RAB23-related Carpenter syndrome	Pathogenic (Apr 1, 2010)	no assertion criteria provided
Select item 459277.	NM_016277.5(RAB23):c.408dup (p.Glu137Ter) GRCh37: Chr6:57059640-57059641 GRCh38: Chr6:57194842-57194843	RAB23	E137*	RAB23-related Carpenter syndrome	Pathogenic (Jun 1, 2007)	no assertion criteria provided
Select item 459178.	NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) GRCh37: Chr6:57059615 GRCh38: Chr6:57194817	RAB23	L145*	Carpenter syndrome, Inborn genetic diseases, not provided, RAB23-related Carpenter syndrome	Pathogenic (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 78