Total 32 pathogenic variants reported for Floating-Harbor syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) SNV
Germline		 Chr16:30737370 Pathogenic Floating-Harbor syndrome
Condition: not provided
Inborn genetic diseases
See cases
Neurodevelopmental delay
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
SRCAP-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342761 rs_199469464

26 SubmittersRCV000023895RCV000255081RCV000623916RCV001420319RCV002273937RCV003988823RCV003407357
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) SNV
Germline		 Chr16:30737343 Pathogenic/Likely pathogenic Floating-Harbor syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342763 rs_199469465

21 SubmittersRCV000023896RCV000299481RCV001265998
NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter) SNV
Germline		 Chr16:30736616 Pathogenic Floating-Harbor syndrome No Assertion Criteria Provided
 CA270632 rs_587777656

1 SubmittersRCV000133554
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) SNV
Germline		 Chr16:30738033 Pathogenic/Likely pathogenic Floating-Harbor syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA272646 rs_587784444

2 SubmittersRCV000147668
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) SNV
Germline		 Chr16:30723779 Conflicting classifications of pathogenicity Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases
SRCAP-related disorder		 Criteria Provided
Conflicting Classifications
 CA242554 rs_200175704

4 SubmittersRCV000176568RCV002485145RCV002516709RCV003907587
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) SNV
Germline		 Chr16:30704071 Conflicting classifications of pathogenicity Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA245327 rs_183497403

4 SubmittersRCV000178280RCV002478591RCV003298224
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg) SNV
Germline		 Chr16:30738540 Conflicting classifications of pathogenicity Floating-Harbor syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8012713 rs_146421389

5 SubmittersRCV000334801RCV001850689RCV002521008
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) SNV
Germline		 Chr16:30711953 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome		 Criteria Provided
Conflicting Classifications
 rs_771334638

3 SubmittersRCV001872521RCV002548715RCV002506902
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) SNV
Germline		 Chr16:30736601 Pathogenic/Likely pathogenic Condition: not provided
Floating-Harbor syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555465891

3 SubmittersRCV000657907RCV001775944
NM_006662.3(SRCAP):c.7287C>A (p.Cys2429Ter) SNV
Germline		 Chr16:30737327 Pathogenic Floating-Harbor syndrome Criteria Provided
Single Submitter
 rs_758972811

1 SubmittersRCV000850607
NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu) SNV
Germline		 Chr16:30738033 Conflicting classifications of pathogenicity Floating-Harbor syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_587784444

2 SubmittersRCV001262634RCV004035399
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter) SNV
Germline		 Chr16:30737259 Pathogenic Floating-Harbor syndrome
Condition: not provided		 Criteria Provided
Single Submitter

2 SubmittersRCV001270394RCV003235529
NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter) SNV
Germline		 Chr16:30737229 Pathogenic Floating-Harbor syndrome No Assertion Criteria Provided
 rs_2053169420

1 SubmittersRCV001293700
NM_006662.3(SRCAP):c.9229C>T (p.Arg3077Ter) SNV
Germline		 Chr16:30739269 Likely pathogenic Floating-Harbor syndrome Criteria Provided
Single Submitter
 rs_143133981

1 SubmittersRCV002464465
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) SNV
Germline		 Chr16:30724012 Conflicting classifications of pathogenicity Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_181190579

3 SubmittersRCV001880370RCV002489969RCV002545842
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) SNV
Germline		 Chr16:30721189 Conflicting classifications of pathogenicity Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_200083101

3 SubmittersRCV001864293RCV002482494RCV003164102
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) SNV
Germline		 Chr16:30716310 Conflicting classifications of pathogenicity Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases
SRCAP-related disorder		 Criteria Provided
Conflicting Classifications
 rs_139524110

4 SubmittersRCV001968001RCV002479535RCV002562800RCV003948835
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) SNV
Germline		 Chr16:30724942 Conflicting classifications of pathogenicity Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_531238169

3 SubmittersRCV001981698RCV002497831RCV003355692
NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val) SNV
Germline		 Chr16:30739537 Conflicting classifications of pathogenicity Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_530672259

3 SubmittersRCV001884920RCV002478286RCV004041538
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) SNV
Germline		 Chr16:30720775 Conflicting classifications of pathogenicity Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_767714019

3 SubmittersRCV002050625RCV002482413RCV002543493
NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp) SNV
Germline		 Chr16:30729014 Conflicting classifications of pathogenicity Condition: not provided
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_74015039

3 SubmittersRCV001985207RCV002484749RCV004043733
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) SNV
Germline		 Chr16:30739029 Conflicting classifications of pathogenicity Condition: not provided
Floating-Harbor syndrome
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_138111804

5 SubmittersRCV001914639RCV002482617RCV004041134
NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter) SNV
Germline		 Chr16:30737904 Pathogenic Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Floating-Harbor syndrome		 Criteria Provided
Single Submitter
 rs_2151300418

1 SubmittersRCV002204553