Total 30 pathogenic variants reported for Klippel-Feil syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV
Germline		 Chr8:96145185 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Leber congenital amaurosis 17
Klippel-Feil syndrome
not specified
Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Congenital anomaly of kidney and urinary tract
Isolated microphthalmia 4
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Congenital anomaly of kidney and urinary tract
GDF6-related disorder
Isolated microphthalmia 4
Multiple synostoses syndrome 4
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA119555 rs_121909352

13 SubmittersRCV000008876RCV000008877RCV000054424RCV000353571RCV000428033RCV000767010RCV001255226RCV001522988RCV001255227RCV003934812RCV005400409RCV004814864
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) SNV
Germline		 Chr8:96145065 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
GDF6-related disorder
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Multiple synostoses syndrome 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17		 Criteria Provided
Conflicting Classifications
 CA119556 rs_63751220

5 SubmittersRCV000008878RCV000255695RCV001399723RCV003952350RCV005400410
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) SNV
Germline		 Chr8:96144660 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome
Klippel-Feil syndrome 1, autosomal dominant
Autosomal dominant Parkinson disease 8
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Multiple synostoses syndrome 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17		 Criteria Provided
Conflicting Classifications
 CA119557 rs_121909353

6 SubmittersRCV000008879RCV000287766RCV000984889RCV001429590RCV003152588RCV005400411
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) SNV
Germline		 Chr12:7690177 Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 3, autosomal dominant
Supernumerary ribs
Missing ribs
Scoliosis
Hemivertebrae
Condition: not provided
GDF3-related disorder		 Criteria Provided
Conflicting Classifications
 CA129363 rs_140926412

7 SubmittersRCV000023556RCV000023555RCV000414875RCV001091141RCV003924856
NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter) SNV
Germline		 Chr17:43642011 Pathogenic Klippel-Feil syndrome 2, autosomal recessive No Assertion Criteria Provided
 CA399903609 rs_772798486

1 SubmittersRCV000032704
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) SNV
Germline		 Chr8:96160524 Conflicting classifications of pathogenicity Leber congenital amaurosis 17
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Condition: not provided
GDF6-related disorder		 Criteria Provided
Conflicting Classifications
 CA210821 rs_397514725

5 SubmittersRCV000054426RCV001853075RCV001337031RCV001753472RCV004757958
NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter) SNV
Germline		 Chr17:43661285 Pathogenic Klippel-Feil syndrome 2, autosomal recessive No Assertion Criteria Provided
 CA174982 rs_713993044

1 SubmittersRCV000149546
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) SNV
Germline		 Chr8:96145206 Conflicting classifications of pathogenicity Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10605452 rs_886043381

5 SubmittersRCV000344156RCV001239678RCV004021200
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) SNV
Germline		 Chr8:96144627 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Multiple synostoses syndrome 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant		 Criteria Provided
Conflicting Classifications
 CA4815342 rs_140782427

5 SubmittersRCV005355683RCV001044903RCV001027714
NM_001001557.4(GDF6):c.957C>A (p.Ala319=) SNV
Germline		 Chr8:96144974 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17		 Criteria Provided
Conflicting Classifications
 CA4815384 rs_757525366

2 SubmittersRCV000404155RCV002058750
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) SNV
Germline		 Chr8:96145161 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Condition: not provided
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA10631741 rs_886063208

5 SubmittersRCV000298662RCV001200311RCV001861334RCV004022085RCV004689724
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) SNV
Germline		 Chr8:96160581 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Condition: not provided
Klippel-Feil syndrome 1, autosomal dominant
Congenital anomaly of kidney and urinary tract
GDF6-related disorder		 Criteria Provided
Conflicting Classifications
 CA4815552 rs_139075817

7 SubmittersRCV000878637RCV001358275RCV001168053RCV001255225RCV003955779
NM_001001557.4(GDF6):c.24C>G (p.Leu8=) SNV
Germline		 Chr8:96160669 Conflicting classifications of pathogenicity Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Klippel-Feil syndrome 1, autosomal dominant
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4815569 rs_369859861

3 SubmittersRCV000878606RCV001168054RCV003432863
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) SNV
Germline		 Chr8:96145116 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4815405 rs_561421783

2 SubmittersRCV001038235RCV003307813
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) SNV
Germline		 Chr8:96160371 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Leber congenital amaurosis 17
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4815501 rs_368498747

3 SubmittersRCV001070415RCV004693583RCV004030747
NM_001001557.4(GDF6):c.18C>T (p.Val6=) SNV
Germline		 Chr8:96160675 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17		 Criteria Provided
Conflicting Classifications
 CA4815572 rs_745979763

2 SubmittersRCV001168055RCV002067827
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) SNV
Germline		 Chr8:96145395 Conflicting classifications of pathogenicity Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA371752471 rs_1444302456

2 SubmittersRCV001298384RCV004629541
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg) SNV
Germline		 Chr8:96144972 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA181485028 rs_888138096

2 SubmittersRCV001901583RCV004631812
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu) SNV
Germline		 Chr8:96160474 Conflicting classifications of pathogenicity Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated, with coloboma 6
Isolated microphthalmia 4
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4815528 rs_753416812

2 SubmittersRCV002646489RCV002646488
NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser) SNV
Germline		 Chr8:96145306 Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
Isolated microphthalmia 4
Microphthalmia, isolated, with coloboma 6
Leber congenital amaurosis 17
not specified		 Criteria Provided
Conflicting Classifications
 CA371752211 rs_1368221807

2 SubmittersRCV003784337RCV005435297
NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys) SNV
Germline		 Chr17:43643616 Likely pathogenic Klippel-Feil syndrome 2, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004764428
NM_004527.4(MEOX1):c.282G>A (p.Trp94Ter) SNV
Germline		 Chr17:43661253 Pathogenic/Likely pathogenic Condition: not provided
Klippel-Feil syndrome 2, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005201040RCV005230869
NM_004527.4(MEOX1):c.268C>T (p.Gln90Ter) SNV
Germline		 Chr17:43661267 Likely pathogenic Klippel-Feil syndrome 2, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005362110