Total 75 pathogenic variants reported for Carpenter syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) SNV
Germline		 Chr6:57194817 Pathogenic RAB23-related Carpenter syndrome
Condition: not provided
Inborn genetic diseases
Carpenter syndrome
RAB23-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116937 rs_121908171

10 SubmittersRCV000004853RCV000407501RCV000622686RCV000791402RCV003415654
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) SNV
Germline		 Chr19:42356848 Pathogenic/Likely pathogenic MEGF8-related Carpenter syndrome No Assertion Criteria Provided
 CA130632 rs_397515427

2 SubmittersRCV000033072
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) SNV
Germline		 Chr19:42375537 Pathogenic MEGF8-related Carpenter syndrome No Assertion Criteria Provided
 CA130634 rs_397515428

1 SubmittersRCV000033073
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) SNV
Germline		 Chr19:42336904 Pathogenic MEGF8-related Carpenter syndrome No Assertion Criteria Provided
 CA130636 rs_397514621

1 SubmittersRCV000033074
NM_001271938.2(MEGF8):c.595G>C (p.Gly199Arg) SNV
Germline		 Chr19:42335071 Pathogenic MEGF8-related Carpenter syndrome No Assertion Criteria Provided
 rs_2147448693

1 SubmittersRCV000033075
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) SNV
Germline		 Chr6:57207651 Conflicting classifications of pathogenicity not specified
Carpenter syndrome
RAB23-related Carpenter syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA207593 rs_556931606

6 SubmittersRCV000193841RCV000917274RCV001159250RCV001567378
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) SNV
Germline		 Chr19:42375910 Conflicting classifications of pathogenicity Condition: not provided
MEGF8-related Carpenter syndrome
Inborn genetic diseases
MEGF8-related disorder		 Criteria Provided
Conflicting Classifications
 CA9476230 rs_147216997

6 SubmittersRCV000224648RCV001082590RCV002516229RCV003919907
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) SNV
Germline		 Chr6:57210299 Conflicting classifications of pathogenicity Condition: not provided
RAB23-related Carpenter syndrome
Carpenter syndrome
RAB23-related disorder		 Criteria Provided
Conflicting Classifications
 CA3873927 rs_765443042

6 SubmittersRCV000305521RCV000546008RCV001034654RCV003930036
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) SNV
Germline		 Chr6:57196547 Conflicting classifications of pathogenicity Carpenter syndrome
Condition: not provided
RAB23-related Carpenter syndrome
RAB23-related disorder		 Criteria Provided
Conflicting Classifications
 CA3873855 rs_45479896

8 SubmittersRCV000339958RCV000424519RCV001449940RCV003972506
NM_016277.5(RAB23):c.714A>G (p.Ter238=) SNV
Germline		 Chr6:57190461 Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome
Carpenter syndrome		 Criteria Provided
Conflicting Classifications
 CA10624469 rs_142290596

2 SubmittersRCV000378298RCV003757175
NM_016277.5(RAB23):c.398+9G>A SNV
Germline		 Chr6:57196441 Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome
Carpenter syndrome
RAB23-related disorder		 Criteria Provided
Conflicting Classifications
 CA3873836 rs_376839366

3 SubmittersRCV000285069RCV001451137RCV003922580
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) SNV
Germline		 Chr6:57193880 Conflicting classifications of pathogenicity Carpenter syndrome
RAB23-related Carpenter syndrome
RAB23-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3873782 rs_150440590

5 SubmittersRCV000379503RCV001095268RCV003409557RCV004022031
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) SNV
Germline		 Chr6:57194770 Pathogenic Carpenter syndrome No Assertion Criteria Provided
 CA16616858 rs_1060505026

1 SubmittersRCV000477736
NM_001271938.2(MEGF8):c.6274-9C>G SNV
Germline		 Chr19:42368446 Conflicting classifications of pathogenicity not specified
MEGF8-related Carpenter syndrome		 Criteria Provided
Conflicting Classifications
 CA9475827 rs_373417416

2 SubmittersRCV000502347RCV000876080
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) SNV
Germline		 Chr19:42358892 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9475511 rs_150607375

2 SubmittersRCV000527674RCV002530218
NM_001271938.2(MEGF8):c.1788+1G>C SNV
Germline		 Chr19:42344074 Pathogenic MEGF8-related Carpenter syndrome Criteria Provided
Single Submitter
 rs_1206116606

1 SubmittersRCV000680041
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) SNV
Germline		 Chr19:42368861 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_372350131

4 SubmittersRCV000685869RCV001756154RCV004026212
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) SNV
Germline		 Chr19:42350301 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_746031284

3 SubmittersRCV000688017RCV002544793
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys) SNV
Germline		 Chr19:42376413 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_141224456

5 SubmittersRCV001086020RCV000871483
NM_016277.5(RAB23):c.54A>G (p.Gly18=) SNV
Germline		 Chr6:57210327 Conflicting classifications of pathogenicity Carpenter syndrome
RAB23-related Carpenter syndrome
RAB23-related disorder		 Criteria Provided
Conflicting Classifications
 rs_767442221

4 SubmittersRCV000951544RCV001159254RCV003925944
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln) SNV
Germline		 Chr19:42368576 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201140958

2 SubmittersRCV000950963RCV003413753
NM_001271938.2(MEGF8):c.5492C>T (p.Ser1831Leu) SNV
Germline		 Chr19:42360778 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_139959427

2 SubmittersRCV001488398RCV002547276
NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu) SNV
Germline		 Chr19:42350185 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_148207079

2 SubmittersRCV000891080RCV002540097
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) SNV
Germline		 Chr19:42352260 Conflicting classifications of pathogenicity Condition: not provided
MEGF8-related Carpenter syndrome		 Criteria Provided
Conflicting Classifications
 rs_202039332

3 SubmittersRCV000983921RCV001336364
NM_001271938.2(MEGF8):c.3455C>T (p.Pro1152Leu) SNV
Germline		 Chr19:42353032 Conflicting classifications of pathogenicity Condition: not provided
MEGF8-related Carpenter syndrome		 Criteria Provided
Conflicting Classifications
 rs_367649187

3 SubmittersRCV000983839RCV001417015
NM_016277.5(RAB23):c.123C>T (p.Thr41=) SNV
Germline		 Chr6:57210258 Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome
Carpenter syndrome
RAB23-related disorder		 Criteria Provided
Conflicting Classifications
 rs_759408401

3 SubmittersRCV001159252RCV001439461RCV003938527
NM_016277.5(RAB23):c.93A>G (p.Lys31=) SNV
Germline		 Chr6:57210288 Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome
Carpenter syndrome		 Criteria Provided
Conflicting Classifications
 rs_201735614

3 SubmittersRCV001159253RCV001510380
NM_016277.5(RAB23):c.156-9T>C SNV
Germline		 Chr6:57207722 Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome
Carpenter syndrome		 Criteria Provided
Conflicting Classifications
 rs_1380069219

2 SubmittersRCV001159251RCV001395559
NM_001271938.2(MEGF8):c.3351-2A>C SNV
Unknown		 Chr19:42352926 Likely pathogenic MEGF8-related Carpenter syndrome Criteria Provided
Single Submitter
 rs_2039397653

1 SubmittersRCV001197591
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter) SNV
Germline		 Chr6:57210239 Pathogenic Carpenter syndrome Criteria Provided
Single Submitter
 rs_1765602287

1 SubmittersRCV001237096
NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys) SNV
Germline		 Chr19:42335215 Likely pathogenic MEGF8-related Carpenter syndrome Criteria Provided
Single Submitter
 rs_2039109372

1 SubmittersRCV001289994
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln) SNV
Germline		 Chr19:42376729 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Condition: not provided
MEGF8-related disorder		 Criteria Provided
Conflicting Classifications
 rs_766621187

3 SubmittersRCV001295345RCV003106185RCV003908507
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) SNV
Germline		 Chr6:57190463 Conflicting classifications of pathogenicity Carpenter syndrome
See cases
RAB23-related Carpenter syndrome		 Criteria Provided
Conflicting Classifications
 rs_751619487

3 SubmittersRCV001363619RCV002287498RCV001836364
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter) SNV
Germline		 Chr6:57194830 Pathogenic Carpenter syndrome Criteria Provided
Single Submitter
 rs_2127998022

1 SubmittersRCV001383516
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) SNV
Germline		 Chr6:57210236 Pathogenic/Likely pathogenic Carpenter syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_1049674573

2 SubmittersRCV001386671
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) SNV
Germline		 Chr6:57193865 Conflicting classifications of pathogenicity Carpenter syndrome
RAB23-related Carpenter syndrome
RAB23-related disorder		 Criteria Provided
Conflicting Classifications
 rs_140295281

3 SubmittersRCV001421126RCV001826228RCV003405654
NM_016277.5(RAB23):c.398+1G>A SNV
Germline		 Chr6:57196449 Pathogenic RAB23-related Carpenter syndrome Criteria Provided
Single Submitter
 rs_2127998616

1 SubmittersRCV001580137
NM_001271938.2(MEGF8):c.7005+1G>T SNV
Germline		 Chr19:42370360 Likely pathogenic Carpenter syndrome Criteria Provided
Single Submitter
 rs_1224632697

1 SubmittersRCV001582407
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter) SNV
Germline		 Chr6:57193890 Pathogenic Carpenter syndrome Criteria Provided
Single Submitter
 rs_2127997677

1 SubmittersRCV001944873
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg) SNV
Germline		 Chr19:42350292 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_147068787

3 SubmittersRCV001963824RCV003365609RCV003426269
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) SNV
Germline		 Chr19:42336817 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome Criteria Provided
Conflicting Classifications
 rs_1222471099

2 SubmittersRCV001990032
NM_016277.5(RAB23):c.156-1G>C SNV
Germline		 Chr6:57207714 Likely pathogenic Carpenter syndrome Criteria Provided
Single Submitter
 rs_373724159

1 SubmittersRCV002041723
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter) SNV
Germline		 Chr19:42353944 Likely pathogenic MEGF8-related Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002280256
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter) SNV
Germline		 Chr19:42370719 Likely pathogenic Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002470027
NM_001271938.2(MEGF8):c.3761+2T>C SNV
Germline		 Chr19:42353677 Likely pathogenic MEGF8-related Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002601287
NM_001271938.2(MEGF8):c.3577C>T (p.Arg1193Ter) SNV
Germline		 Chr19:42353491 Pathogenic MEGF8-related Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002979664
NM_016277.5(RAB23):c.481+1G>A SNV
Germline		 Chr6:57194769 Likely pathogenic Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003039548
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter) SNV
Germline		 Chr19:42344026 Likely pathogenic Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003226720
NM_001271938.2(MEGF8):c.5555G>A (p.Arg1852His) SNV
Germline		 Chr19:42360841 Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003536276RCV004366489
NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter) SNV
Germline		 Chr19:42368482 Pathogenic MEGF8-related Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003538978
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter) SNV
Germline		 Chr6:57207631 Pathogenic Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003591191
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter) SNV
Germline		 Chr19:42351544 Pathogenic MEGF8-related Carpenter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003844225