Total 66 pathogenic variants reported for Gray platelet syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015175.3(NBEAL2):c.2701C>T (p.Arg901Ter) SNV
Germline		 Chr3:46997310 Pathogenic Gray platelet syndrome No Assertion Criteria Provided
 CA129681 rs_387907112

1 SubmittersRCV000024112
NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter) SNV
Germline		 Chr3:46991644 Pathogenic Gray platelet syndrome No Assertion Criteria Provided
 CA129684 rs_372277612

1 SubmittersRCV000024113
NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro) SNV
Germline		 Chr3:46993986 Pathogenic Gray platelet syndrome No Assertion Criteria Provided
 CA129687 rs_387907113

1 SubmittersRCV000024114
NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val) SNV
Germline		 Chr3:46995743 Pathogenic Gray platelet syndrome No Assertion Criteria Provided
 CA129689 rs_387907114

1 SubmittersRCV000024115
NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu) SNV
Germline		 Chr3:47004976 Pathogenic Gray platelet syndrome No Assertion Criteria Provided
 CA129691 rs_387907115

1 SubmittersRCV000024116
NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter) SNV
Germline		 Chr3:46995558 Pathogenic Gray platelet syndrome No Assertion Criteria Provided
 CA129693 rs_794726682

1 SubmittersRCV000024117
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) SNV
Germline		 Chr3:47008125 Conflicting classifications of pathogenicity Condition: not provided
Gray platelet syndrome
not specified
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2362226 rs_144664865

5 SubmittersRCV000384735RCV001144871RCV001820829RCV003920125
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln) SNV
Germline		 Chr3:46996494 Conflicting classifications of pathogenicity Gray platelet syndrome
Abnormal bleeding
Thrombocytopenia
Inborn genetic diseases
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2360612 rs_140354422

4 SubmittersRCV000275333RCV001270605RCV002520133RCV003912457
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) SNV
Germline		 Chr3:47006010 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided
Abnormal bleeding
Thrombocytopenia
not specified
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2361979 rs_181413143

6 SubmittersRCV000281014RCV000893189RCV001270527RCV001821049RCV003910360
NM_015175.3(NBEAL2):c.474-4C>T SNV
Germline		 Chr3:46989507 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2360127 rs_375726193

2 SubmittersRCV000358321RCV000907536
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) SNV
Germline		 Chr3:46995763 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2360502 rs_201373710

6 SubmittersRCV000305249RCV000595231RCV001821044
NM_015175.3(NBEAL2):c.5769G>A (p.Ser1923=) SNV
Germline		 Chr3:47003864 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2361659 rs_200100160

3 SubmittersRCV000270248RCV000898283RCV003910359
NM_015175.3(NBEAL2):c.690G>C (p.Leu230=) SNV
Germline		 Chr3:46991453 Conflicting classifications of pathogenicity Gray platelet syndrome
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2360186 rs_181297174

2 SubmittersRCV000361599RCV003957786
NM_015175.3(NBEAL2):c.5356A>T (p.Thr1786Ser) SNV
Germline		 Chr3:47002699 Conflicting classifications of pathogenicity Gray platelet syndrome
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2361524 rs_373627201

2 SubmittersRCV000266343RCV003950214
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter) SNV
Germline		 Chr3:46995528 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 CA352508623 rs_1553659758

1 SubmittersRCV000503824
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) SNV
Germline		 Chr3:47000180 Pathogenic Gray platelet syndrome
NBEAL2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA352516876 rs_1553663498

2 SubmittersRCV000500436RCV003403169
NM_015175.3(NBEAL2):c.4485-8C>T SNV
Germline		 Chr3:47001271 Conflicting classifications of pathogenicity not specified
Condition: not provided
Gray platelet syndrome
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2361262 rs_145760682

4 SubmittersRCV000501424RCV000966319RCV001149283RCV003935295
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter) SNV
Unknown		 Chr3:46995524 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_1172581672

1 SubmittersRCV000852052
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) SNV
Unknown		 Chr3:47003872 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_1575619957

1 SubmittersRCV000851830
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) SNV
Germline		 Chr3:47005036 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_762258197

1 SubmittersRCV000851838
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) SNV
Germline		 Chr3:47005585 Conflicting classifications of pathogenicity Gray platelet syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_749279630

2 SubmittersRCV000852187RCV003330944
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter) SNV
Germline		 Chr3:47007577 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_1575629721

1 SubmittersRCV000852204
NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=) SNV
Germline		 Chr3:46995370 Conflicting classifications of pathogenicity Condition: not provided
Gray platelet syndrome
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_371768924

6 SubmittersRCV000954395RCV001146253RCV003960653
NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg) SNV
Germline		 Chr3:47009285 Conflicting classifications of pathogenicity Condition: not provided
Gray platelet syndrome
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_201641746

4 SubmittersRCV000962027RCV001146847RCV003983309
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His) SNV
Germline		 Chr3:46989375 Conflicting classifications of pathogenicity Condition: not provided
Gray platelet syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_199797249

3 SubmittersRCV000908607RCV001148926RCV001818807
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=) SNV
Germline		 Chr3:47000128 Conflicting classifications of pathogenicity Condition: not provided
Gray platelet syndrome		 Criteria Provided
Conflicting Classifications
 rs_369906164

2 SubmittersRCV000921524RCV001146511
NM_015175.3(NBEAL2):c.3384+5G>A SNV
Germline		 Chr3:46998884 Conflicting classifications of pathogenicity Condition: not provided
Gray platelet syndrome
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_370559049

3 SubmittersRCV000953196RCV001144585RCV003413755
NM_015175.3(NBEAL2):c.7225-1G>C SNV
Germline		 Chr3:47007240 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_1575628744

1 SubmittersRCV000991418
NM_015175.3(NBEAL2):c.3118+2T>G SNV
Unknown		 Chr3:46998228 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_1349443190

1 SubmittersRCV001003898
NM_015175.3(NBEAL2):c.1764G>A (p.Ala588=) SNV
Germline		 Chr3:46995499 Conflicting classifications of pathogenicity Gray platelet syndrome
NBEAL2-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_776191203

3 SubmittersRCV001149047RCV003938514RCV004032771
NM_015175.3(NBEAL2):c.3291G>A (p.Ala1097=) SNV
Germline		 Chr3:46998786 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_369931526

2 SubmittersRCV001150681RCV003433043
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile) SNV
Germline		 Chr3:47005029 Conflicting classifications of pathogenicity Gray platelet syndrome
Inborn genetic diseases
not specified
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_146270553

4 SubmittersRCV001144772RCV002557092RCV001819848RCV003938502
NM_015175.3(NBEAL2):c.2650-1G>A SNV
Unknown		 Chr3:46997258 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_2036570687

1 SubmittersRCV001261913
NM_015175.3(NBEAL2):c.4485-1G>T SNV
Somatic		 Chr3:47001278 Pathogenic Gray platelet syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_763842878

2 SubmittersRCV001261909RCV002255102
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) SNV
Unknown		 Chr3:47006038 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_2037417315

1 SubmittersRCV001261916
NM_015175.3(NBEAL2):c.6920-1G>C SNV
Unknown		 Chr3:47006164 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_2037428827

1 SubmittersRCV001261906
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp) SNV
Germline		 Chr3:46996051 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 rs_2107346255

1 SubmittersRCV001823792
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser) SNV
Unknown		 Chr3:47006037 Likely pathogenic Gray platelet syndrome No Assertion Criteria Provided
 rs_2107445568

1 SubmittersRCV002245440
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter) SNV
Unknown		 Chr3:47005229 Likely pathogenic Gray platelet syndrome No Assertion Criteria Provided
 rs_2107437335

1 SubmittersRCV002245448
NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys) SNV
Unknown		 Chr3:47004535 Likely pathogenic Gray platelet syndrome No Assertion Criteria Provided
 rs_1339171276

1 SubmittersRCV002245449
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys) SNV
Unknown		 Chr3:47002994 Likely pathogenic Gray platelet syndrome No Assertion Criteria Provided
 rs_1341020147

1 SubmittersRCV002245451
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr) SNV
Germline		 Chr3:47006021 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002280941
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter) SNV
Germline		 Chr3:47002262 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003447781
NM_015175.3(NBEAL2):c.6514C>T (p.Arg2172Cys) SNV
Germline		 Chr3:47005275 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003990414