Total 15 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.1104C>T (p.Thr368=) SNV
Germline		 Chr20:35434311 Conflicting classifications of pathogenicity Acromesomelic dysplasia 2C, Hunter-Thompson type
Grebe syndrome
Multiple synostoses syndrome 2
Brachydactyly
Acromesomelic dysplasia 2B
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9832163 rs_748907807

2 SubmittersRCV000311454RCV000307883RCV000369626RCV000404610RCV000404917RCV002523158
NM_000557.5(GDF5):c.855C>T (p.Gly285=) SNV
Germline		 Chr20:35434560 Conflicting classifications of pathogenicity Acromesomelic dysplasia 2B
Grebe syndrome
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type
Brachydactyly
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA9832218 rs_149593773

4 SubmittersRCV000299052RCV000300078RCV000357395RCV000391346RCV000404947RCV000863546RCV000607716
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
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9832412 rs_199666386

3 SubmittersRCV000269019RCV000276931RCV000307820RCV000365864RCV000369568RCV001865232RCV002523159
NM_000557.5(GDF5):c.*259G>C SNV
Germline		 Chr20:35433650 Conflicting classifications of pathogenicity Multiple synostoses syndrome 2
Grebe syndrome
Brachydactyly
Acromesomelic dysplasia 2B
Acromesomelic dysplasia 2C, Hunter-Thompson type		 Criteria Provided
Conflicting Classifications
 rs_150833046

1 SubmittersRCV001137581RCV001137582RCV001137583RCV001137580RCV001142324
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV
Germline		 Chr20:35434041 Conflicting classifications of pathogenicity Grebe syndrome
Acromesomelic dysplasia 2C, Hunter-Thompson type
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B
Brachydactyly
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_776415223

2 SubmittersRCV001139808RCV001140582RCV001140583RCV001140584RCV001139809RCV003565468
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
 rs_752789551

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

1 SubmittersRCV001137920RCV001137922RCV001137919RCV001137921RCV001137923
NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV
Germline		 Chr20:35437872 Conflicting classifications of pathogenicity Acromesomelic dysplasia 2B
Brachydactyly
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type
Grebe syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_746980493

2 SubmittersRCV001140923RCV001140924RCV001140925RCV001140926RCV001140922RCV003688915
NM_000557.5(GDF5):c.-134C>G SNV
Germline		 Chr20:35438062 Conflicting classifications of pathogenicity Brachydactyly
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type
Grebe syndrome		 Criteria Provided
Conflicting Classifications
 rs_144924248

1 SubmittersRCV001138447RCV001138449RCV001138445RCV001138446RCV001138448
NM_000557.5(GDF5):c.631+6G>A SNV
Germline		 Chr20:35437292 Conflicting classifications of pathogenicity Grebe syndrome
Acromesomelic dysplasia 2C, Hunter-Thompson type
Brachydactyly
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2		 Criteria Provided
Conflicting Classifications
 rs_768697784

1 SubmittersRCV001137806RCV001137807RCV001137808RCV001137809RCV001137810
NM_000557.5(GDF5):c.1299C>A (p.Cys433Ter) SNV
Germline		 Chr20:35434116 Likely pathogenic Grebe syndrome No Assertion Criteria Provided

1 SubmittersRCV003326704