Total 87 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 Criteria Provided
Single Submitter
 CA129693 rs_794726682

2 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

7 SubmittersRCV000384735RCV001144871RCV001820829RCV003920125
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln) SNV
Germline		 Chr3:46996494 Conflicting classifications of pathogenicity Gray platelet syndrome
Thrombocytopenia
Abnormal bleeding
Inborn genetic diseases
NBEAL2-related disorder
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2360612 rs_140354422

8 SubmittersRCV000275333RCV001270605RCV002520133RCV003912457RCV005425939RCV004782368
NM_015175.3(NBEAL2):c.4123G>A (p.Gly1375Ser) SNV
Germline		 Chr3:47000222 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2361148 rs_771754714

3 SubmittersRCV000264755RCV004695746RCV005672363
NM_015175.3(NBEAL2):c.5881+11G>A SNV
Germline		 Chr3:47003987 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2361690 rs_201179667

2 SubmittersRCV000327612RCV006612319
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) SNV
Germline		 Chr3:47006010 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided
Thrombocytopenia
Abnormal bleeding
not specified
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2361979 rs_181413143

7 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

3 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

7 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
not specified		 Criteria Provided
Conflicting Classifications
 CA2361659 rs_200100160

5 SubmittersRCV000270248RCV000898283RCV003910359RCV006452609
NM_015175.3(NBEAL2):c.1053G>A (p.Ala351=) SNV
Germline		 Chr3:46992495 Conflicting classifications of pathogenicity Gray platelet syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2360272 rs_185057557

2 SubmittersRCV000326743RCV005372296
NM_015175.3(NBEAL2):c.2486C>T (p.Thr829Met) SNV
Germline		 Chr3:46996763 Conflicting classifications of pathogenicity Gray platelet syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2360648 rs_577957158

2 SubmittersRCV000374424RCV005682274
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
Gray platelet syndrome
Condition: not provided
NBEAL2-related disorder		 Criteria Provided
Conflicting Classifications
 CA2361262 rs_145760682

5 SubmittersRCV000501424RCV001149283RCV000966319RCV003935295
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter) SNV
Germline		 Chr3:46995524 Pathogenic Gray platelet syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA352508617 rs_1172581672

2 SubmittersRCV000852052RCV006552830
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) SNV
Unknown		 Chr3:47003872 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 CA352527595 rs_1575619957

1 SubmittersRCV000851830
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) SNV
Germline		 Chr3:47005036 Likely pathogenic Gray platelet syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2361835 rs_762258197

2 SubmittersRCV000851838RCV004792441
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
 CA2361913 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
 CA352543113 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
not specified		 Criteria Provided
Conflicting Classifications
 CA2360423 rs_371768924

8 SubmittersRCV000954395RCV001146253RCV003960653RCV006455226
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
not specified		 Criteria Provided
Conflicting Classifications
 CA2362394 rs_201641746

5 SubmittersRCV000962027RCV001146847RCV003983309RCV006444838
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
 CA2360108 rs_199797249

4 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
 CA2361128 rs_369906164

3 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
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Uveal melanoma
Sarcoma
Acute myeloid leukemia
Malignant tumor of esophagus
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA2360929 rs_370559049

5 SubmittersRCV000953196RCV001144585RCV003413755RCV005906821RCV005906827RCV005906825RCV005906826RCV005906822RCV005906823RCV005906824
NM_015175.3(NBEAL2):c.7225-1G>C SNV
Germline		 Chr3:47007240 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 CA352541663 rs_1575628744

1 SubmittersRCV000991418
NM_015175.3(NBEAL2):c.3118+2T>G SNV
Unknown		 Chr3:46998228 Pathogenic Gray platelet syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Single Submitter
 CA352512912 rs_1349443190

2 SubmittersRCV001003898RCV005912364
NM_015175.3(NBEAL2):c.1102G>A (p.Asp368Asn) SNV
Germline		 Chr3:46992544 Conflicting classifications of pathogenicity Gray platelet syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2360282 rs_528681375

2 SubmittersRCV001150450RCV006372156
NM_015175.3(NBEAL2):c.1134C>T (p.Asp378=) SNV
Germline		 Chr3:46993957 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2360308 rs_367672629

3 SubmittersRCV001150452RCV004694933
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
 CA2360452 rs_776191203

3 SubmittersRCV001149047RCV003938514RCV004032771
NM_015175.3(NBEAL2):c.2505G>A (p.Glu835=) SNV
Germline		 Chr3:46996782 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2360655 rs_202204936

2 SubmittersRCV001146382RCV006465476
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
 CA2360902 rs_369931526

2 SubmittersRCV001150681RCV003433043
NM_015175.3(NBEAL2):c.4126A>G (p.Ser1376Gly) SNV
Germline		 Chr3:47000225 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2361150 rs_369363563

3 SubmittersRCV001146513RCV001772342RCV004960491
NM_015175.3(NBEAL2):c.4245C>T (p.Asp1415=) SNV
Germline		 Chr3:47000344 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2361180 rs_371129706

2 SubmittersRCV001149280RCV006612632
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His) SNV
Germline		 Chr3:47002158 Conflicting classifications of pathogenicity Gray platelet syndrome
Thrombocytopenia
Abnormal bleeding
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2361412 rs_200622688

7 SubmittersRCV001144673RCV001270594RCV003246721RCV004694895
NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=) SNV
Germline		 Chr3:47005519 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2361899 rs_554449998

2 SubmittersRCV001146733RCV006612630
NM_015175.3(NBEAL2):c.5460-13G>T SNV
Germline		 Chr3:47002944 Conflicting classifications of pathogenicity Gray platelet syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2361559 rs_372705263

3 SubmittersRCV001147542RCV004768876RCV006629236
NM_015175.3(NBEAL2):c.7602+12G>A SNV
Germline		 Chr3:47007922 Conflicting classifications of pathogenicity Gray platelet syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2362200 rs_374154267

2 SubmittersRCV001144870RCV006612627
NM_015175.3(NBEAL2):c.2650-1G>A SNV
Unknown		 Chr3:46997258 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 CA352510654 rs_2036570687

1 SubmittersRCV001261913
NM_015175.3(NBEAL2):c.4485-1G>T SNV
Germline		 Chr3:47001278 Pathogenic/Likely pathogenic Gray platelet syndrome
Condition: not provided
Pancreatic adenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2361263 rs_763842878

4 SubmittersRCV001261909RCV002255102RCV005909283
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) SNV
Unknown		 Chr3:47006038 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 CA352536758 rs_2037417315

1 SubmittersRCV001261916
NM_015175.3(NBEAL2):c.6920-1G>C SNV
Unknown		 Chr3:47006164 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 CA352538875 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
 CA352509580 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
 CA352536746 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
 CA352532041 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
 CA352530270 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
 CA352525943 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
 CA352536570 rs_2037415464

1 SubmittersRCV002280941
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter) SNV
Germline		 Chr3:47002262 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 CA352523297 rs_1222222566

1 SubmittersRCV003447781
NM_015175.3(NBEAL2):c.6514C>T (p.Arg2172Cys) SNV
Germline		 Chr3:47005275 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter
 CA352532459 rs_2545319654

1 SubmittersRCV003990414
NM_015175.3(NBEAL2):c.3385-2A>T SNV
Germline		 Chr3:46998957 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005024652
NM_015175.3(NBEAL2):c.3739C>T (p.Gln1247Ter) SNV
Germline		 Chr3:46999665 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005037037
NM_015175.3(NBEAL2):c.5302-2A>C SNV
Germline		 Chr3:47002643 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005024653
NM_015175.3(NBEAL2):c.6560+1G>A SNV
Germline		 Chr3:47005322 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005024654
NM_015175.3(NBEAL2):c.7134+2T>A SNV
Germline		 Chr3:47006451 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005024655
NM_015175.3(NBEAL2):c.7342C>T (p.Arg2448Ter) SNV
Germline		 Chr3:47007532 Likely pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005024656
NM_015175.3(NBEAL2):c.4485-1G>A SNV
Germline		 Chr3:47001278 Pathogenic/Likely pathogenic Condition: not provided
Gray platelet syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005060841RCV005867247
NM_015175.3(NBEAL2):c.2953C>T (p.Arg985Ter) SNV
Germline		 Chr3:46997689 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005860791
NM_015175.3(NBEAL2):c.3222-2A>T SNV
Unknown		 Chr3:46998715 Pathogenic Gray platelet syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006255085