Total 16 pathogenic variants reported for Grebe syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) SNV
Germline		 Chr20:35434216 Likely pathogenic Grebe syndrome
Brachydactyly type A1C		 Criteria Provided
Single Submitter
 CA119563 rs_74315387

2 SubmittersRCV000008885RCV003137503
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) SNV
Germline		 Chr20:35434276 Pathogenic/Likely pathogenic Type A2 brachydactyly
Condition: not provided
Grebe syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130835 rs_397514668

6 SubmittersRCV000033861RCV001852683RCV005237454
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) SNV
Germline		 Chr20:35434311 Conflicting classifications of pathogenicity Grebe syndrome
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2
Brachydactyly
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9832163 rs_748907807

2 SubmittersRCV000307883RCV000311454RCV000404917RCV000369626RCV000404610RCV002523158
NM_000557.5(GDF5):c.855C>T (p.Gly285=) SNV
Germline		 Chr20:35434560 Conflicting classifications of pathogenicity Grebe syndrome
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type
not specified
Brachydactyly
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9832218 rs_149593773

4 SubmittersRCV000300078RCV000299052RCV000357395RCV000391346RCV000607716RCV000404947RCV000863546
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) SNV
Germline		 Chr20:35437761 Conflicting classifications of pathogenicity Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B
Brachydactyly
Grebe syndrome
Acromesomelic dysplasia 2C, Hunter-Thompson type
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9832412 rs_199666386

3 SubmittersRCV000269019RCV000276931RCV000307820RCV000365864RCV000369568RCV002523159RCV001865232
NM_000557.5(GDF5):c.*259G>C SNV
Germline		 Chr20:35433650 Conflicting classifications of pathogenicity Grebe syndrome
Brachydactyly
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B
Acromesomelic dysplasia 2C, Hunter-Thompson type		 Criteria Provided
Conflicting Classifications
 CA314131407 rs_150833046

1 SubmittersRCV001137582RCV001137583RCV001137581RCV001137580RCV001142324
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV
Germline		 Chr20:35434041 Conflicting classifications of pathogenicity Grebe syndrome
Brachydactyly
Acromesomelic dysplasia 2C, Hunter-Thompson type
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9832125 rs_776415223

2 SubmittersRCV001139808RCV001139809RCV001140582RCV001140583RCV001140584RCV003565468
NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV
Germline		 Chr20:35437446 Conflicting classifications of pathogenicity Grebe syndrome
Brachydactyly
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9832341 rs_752789551

3 SubmittersRCV001140046RCV001140799RCV001140800RCV001140801RCV001140802RCV003718358
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) SNV
Germline		 Chr20:35437723 Conflicting classifications of pathogenicity Grebe syndrome
Acromesomelic dysplasia 2C, Hunter-Thompson type
Brachydactyly
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B		 Criteria Provided
Conflicting Classifications
 CA9832401 rs_542574339

1 SubmittersRCV001137919RCV001137920RCV001137922RCV001137921RCV001137923
NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV
Germline		 Chr20:35437872 Conflicting classifications of pathogenicity Brachydactyly
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 2B
Grebe syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA314131779 rs_746980493

2 SubmittersRCV001140924RCV001140925RCV001140926RCV001140923RCV001140922RCV003688915
NM_000557.5(GDF5):c.-134C>G SNV
Germline		 Chr20:35438062 Conflicting classifications of pathogenicity Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type
Brachydactyly
Grebe syndrome
Acromesomelic dysplasia 2B		 Criteria Provided
Conflicting Classifications
 CA314131789 rs_144924248

1 SubmittersRCV001138445RCV001138446RCV001138447RCV001138448RCV001138449
NM_000557.5(GDF5):c.631+6G>A SNV
Germline		 Chr20:35437292 Conflicting classifications of pathogenicity Acromesomelic dysplasia 2C, Hunter-Thompson type
Brachydactyly
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2
Grebe syndrome		 Criteria Provided
Conflicting Classifications
 CA9832305 rs_768697784

1 SubmittersRCV001137807RCV001137808RCV001137809RCV001137810RCV001137806
NM_000557.5(GDF5):c.1299C>A (p.Cys433Ter) SNV
Germline		 Chr20:35434116 Likely pathogenic Grebe syndrome No Assertion Criteria Provided
 CA408738515 rs_886042958

1 SubmittersRCV003326704