Total 42 pathogenic variants reported for Spondylocarpotarsal synostosis syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter) SNV
Germline		 Chr3:58110138 Pathogenic Spondylocarpotarsal synostosis syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA340573 rs_80356519

4 SubmittersRCV000006768RCV003555947
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) SNV
Germline		 Chr3:58136126 Likely pathogenic Spondylocarpotarsal synostosis syndrome Criteria Provided
Single Submitter
 CA340575 rs_80356520

4 SubmittersRCV000006769
NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter) SNV
Germline		 Chr3:58148771 Pathogenic Spondylocarpotarsal synostosis syndrome No Assertion Criteria Provided
 CA253861 rs_121908897

1 SubmittersRCV000006776
NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter) SNV
Germline		 Chr3:58146043 Pathogenic Spondylocarpotarsal synostosis syndrome No Assertion Criteria Provided
 CA253863 rs_121908898

1 SubmittersRCV000006777
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) SNV
Germline		 Chr3:58108461 Pathogenic Spondylocarpotarsal synostosis syndrome
FLNB-Related Spectrum Disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341838 rs_80356517

5 SubmittersRCV000020443RCV002298447
NM_001457.4(FLNB):c.808A>G (p.Met270Val) SNV
Germline		 Chr3:58094856 Conflicting classifications of pathogenicity not specified
Condition: not provided
Atelosteogenesis type III
Larsen syndrome
Atelosteogenesis type I
Boomerang dysplasia
Spondylocarpotarsal synostosis syndrome
FLNB-Related Spectrum Disorders
Connective tissue disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2467638 rs_145036794

10 SubmittersRCV000238833RCV000726545RCV000765752RCV001148468RCV002277596RCV002518511
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met) SNV
Germline		 Chr3:58123549 Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders
Condition: not provided
Connective tissue disorder
Spondylocarpotarsal synostosis syndrome
Larsen syndrome
Atelosteogenesis type III
Atelosteogenesis type I
Boomerang dysplasia		 Criteria Provided
Conflicting Classifications
 CA2468451 rs_200993986

5 SubmittersRCV000349068RCV000915285RCV002278561RCV002502330
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) SNV
Germline		 Chr3:58148678 Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders
Atelosteogenesis type III
Atelosteogenesis type I
Boomerang dysplasia
Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2469211 rs_368965386

3 SubmittersRCV000370591RCV002487523RCV003546541
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp) SNV
Germline		 Chr3:58104063 Conflicting classifications of pathogenicity Condition: not provided
Atelosteogenesis type III
Atelosteogenesis type I
Boomerang dysplasia
Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2467856 rs_773943113

4 SubmittersRCV000412741RCV002480263RCV002523908
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val) SNV
Germline		 Chr3:58136037 Conflicting classifications of pathogenicity Condition: not provided
Atelosteogenesis type III
Atelosteogenesis type I
Boomerang dysplasia
Spondylocarpotarsal synostosis syndrome
Larsen syndrome		 Criteria Provided
Conflicting Classifications
 CA2468855 rs_148101195

3 SubmittersRCV000520108RCV002476050
NM_002470.4(MYH3):c.2419C>T (p.Gln807Ter) SNV
Germline		 Chr17:10640340 Conflicting classifications of pathogenicity Condition: not provided
Spondylocarpotarsal synostosis syndrome		 Criteria Provided
Conflicting Classifications
 CA8392770 rs_754050324

2 SubmittersRCV000598730RCV001171308
NM_002470.4(MYH3):c.4647+1G>A SNV
Germline		 Chr17:10633590 Pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Spondylocarpotarsal synostosis syndrome
Contractures, pterygia, and variable skeletal fusions syndrome 1B		 Criteria Provided
Single Submitter
 rs_1567552713

2 SubmittersRCV000714982RCV000785648
NM_002470.4(MYH3):c.1581+1G>A SNV
Germline		 Chr17:10642825 Pathogenic/Likely pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Spondylocarpotarsal synostosis syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Arthrogryposis, distal, type 2B3		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1350968647

3 SubmittersRCV000714983RCV000785647RCV001199085
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter) SNV
Germline		 Chr17:10654924 Pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Spondylocarpotarsal synostosis syndrome
Contractures, pterygia, and variable skeletal fusions syndrome 1B		 Criteria Provided
Single Submitter
 rs_1567564042

2 SubmittersRCV000714984RCV000785649
NM_002470.4(MYH3):c.-9+1G>A SNV
Germline		 Chr17:10656089 Pathogenic/Likely pathogenic Spondylocarpotarsal synostosis syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Contractures, pterygia, and variable skeletal fusions syndrome 1B
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Condition: not provided
MYH3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_557849165

11 SubmittersRCV000714988RCV000785651RCV000991182RCV001862011RCV002509523
NM_002470.4(MYH3):c.1934T>G (p.Phe645Cys) SNV
Unknown		 Chr17:10642265 Likely pathogenic Spondylocarpotarsal synostosis syndrome No Assertion Criteria Provided
 rs_1567557697

1 SubmittersRCV000755064
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys) SNV
Germline		 Chr3:58148789 Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders
Condition: not provided
Spondylocarpotarsal synostosis syndrome		 Criteria Provided
Conflicting Classifications
 rs_138034708

5 SubmittersRCV001150458RCV000998094RCV001254636
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile) SNV
Germline		 Chr3:58123291 Conflicting classifications of pathogenicity Condition: not provided
Atelosteogenesis type III
Atelosteogenesis type I
Boomerang dysplasia
Spondylocarpotarsal synostosis syndrome
Larsen syndrome
FLNB-related disorder		 Criteria Provided
Conflicting Classifications
 rs_200947960

4 SubmittersRCV001770982RCV002488551RCV004536288
NM_001457.4(FLNB):c.1243C>T (p.Arg415Ter) SNV
Germline		 Chr3:58098806 Pathogenic Spondylocarpotarsal synostosis syndrome Criteria Provided
Single Submitter
 rs_775714153

1 SubmittersRCV001806323
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter) SNV
Germline		 Chr3:58148319 Pathogenic Condition: not provided
Spondylocarpotarsal synostosis syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_775301566

2 SubmittersRCV001892824RCV002272519
NM_001457.4(FLNB):c.3535G>T (p.Glu1179Ter) SNV
Germline		 Chr3:58123501 Likely pathogenic Spondylocarpotarsal synostosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003338908
NM_001457.4(FLNB):c.2892C>G (p.Phe964Leu) SNV
Germline		 Chr3:58121269 Conflicting classifications of pathogenicity Condition: not provided
Spondylocarpotarsal synostosis syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003666076RCV003989853
NM_001457.4(FLNB):c.2774G>A (p.Gly925Asp) SNV
Germline		 Chr3:58118900 Likely pathogenic Spondylocarpotarsal synostosis syndrome No Assertion Criteria Provided

1 SubmittersRCV004556170