Total 344 pathogenic variants reported for Smith-Lemli-Opitz syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) SNV
Germline
Chr11:71442319 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA253936 rs_28938174

5 SubmittersRCV000007182RCV000274996RCV004585991

NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) SNV
Germline
Chr11:71438980 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA253939 rs_121909764

9 SubmittersRCV000007183RCV001804715RCV004748505

NM_001360.3(DHCR7):c.744G>T (p.Trp248Cys) SNV
Germline
Chr11:71438966 Pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA253942 rs_104894212

1 SubmittersRCV000007184

NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) SNV
Germline
Chr11:71444036 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Abnormal brain morphology
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA221665 rs_80338853

17 SubmittersRCV000007185RCV000079651RCV000454251RCV003985253

NM_001360.3(DHCR7):c.453G>A (p.Trp151Ter) SNV
Germline
Chr11:71441400 Pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA253945 rs_104894213

1 SubmittersRCV000007186

NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) SNV
Germline
Chr11:71435827 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA340609 rs_80338859

13 SubmittersRCV000007187RCV001550331RCV004748506

NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) SNV
Germline
Chr11:71435749 Pathogenic Smith-Lemli-Opitz syndrome
Microcephaly
Condition: not provided
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA340612 rs_80338860

14 SubmittersRCV000007189RCV001252750RCV000259783RCV003934805

NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) SNV
Germline
Chr11:71435593 Pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA340615 rs_61757582

14 SubmittersRCV000007190RCV000723830RCV001266513RCV003407290

NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) SNV
Germline
Chr11:71437909 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA253946 rs_121909765

9 SubmittersRCV000007191RCV000412788RCV002371766

NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) SNV
Germline
Chr11:71437936 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA253949 rs_121909766

3 SubmittersRCV000007192RCV003407291

NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) SNV
Germline
Chr11:71444950 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA118510 rs_121909767

9 SubmittersRCV000169218RCV001528227

NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) SNV
Germline
Chr11:71435461 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA118513 rs_80338864

13 SubmittersRCV000020435RCV000790762

NM_001360.3(DHCR7):c.1A>G (p.Met1Val) SNV
Germline
Chr11:71444952 Pathogenic/Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA118516 rs_104886033

19 SubmittersRCV000224026RCV000169384RCV001267308RCV003390651

NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) SNV
Germline
Chr11:71435748 Pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA253952 rs_121909768

10 SubmittersRCV000007197RCV000254828

NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) SNV
Germline
Chr11:71435575 Pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA221650 rs_80338862

14 SubmittersRCV000020434RCV000079640RCV002316198

NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) SNV
Germline
Chr11:71441401 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Elevated circulating 7-dehydrocholesterol concentration
Small for gestational age
2-3 toe syndactyly
Primary microcephaly
Criteria Provided
Multiple Submitters
No Conflicts
CA221671 rs_11555217

37 SubmittersRCV000020436RCV000079655RCV002336089RCV003415725RCV000414879

NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) SNV
Germline
Chr11:71441347 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA341824 rs_80338855

11 SubmittersRCV000020437RCV001818169RCV002345251

NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) SNV
Germline
Chr11:71438986 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA341827 rs_80338856

16 SubmittersRCV000020438RCV004748531RCV000389331RCV002371778

NM_001360.3(DHCR7):c.725G>A (p.Arg242His) SNV
Germline
Chr11:71438985 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA341830 rs_80338857

15 SubmittersRCV000020439RCV001529736RCV004748532

NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) SNV
Germline
Chr11:71437869 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA341833 rs_80338858

9 SubmittersRCV000020440RCV002371779RCV004748533

NM_001360.3(DHCR7):c.412+3A>T SNV
Germline
Chr11:71442260 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA259777 rs_786200926

3 SubmittersRCV000023212

NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) SNV
Germline
Chr11:71435791 Conflicting classifications of pathogenicity not specified
Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA221647 rs_72954276

9 SubmittersRCV000079638RCV000585931RCV001027947RCV002313764RCV003915058

NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) SNV
Germline
Chr11:71435435 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA221653 rs_144562471

9 SubmittersRCV000261724RCV000247087RCV000723626RCV002316237

NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) SNV
Germline
Chr11:71435419 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA221656 rs_201270451

4 SubmittersRCV000079645RCV000411557

NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser) SNV
Germline
Chr11:71444163 Pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA221659 rs_104886035

6 SubmittersRCV000079646RCV000178160

NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) SNV
Germline
Chr11:71444115 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
not specified
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA221662 rs_143999854

14 SubmittersRCV000509217RCV000681711RCV002313765RCV003987353RCV003415846

NM_001360.3(DHCR7):c.321+10C>T SNV
Germline
Chr11:71443983 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA147248 rs_377108406

10 SubmittersRCV000079652RCV000999843RCV001705739

NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) SNV
Germline
Chr11:71442275 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA221668 rs_201466849

8 SubmittersRCV000079653RCV000674435RCV002354276RCV004700393

NM_001360.3(DHCR7):c.485C>T (p.Ala162Val) SNV
Germline
Chr11:71441368 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA221674 rs_398123606

6 SubmittersRCV000079656RCV001274683RCV002313766

NM_001360.3(DHCR7):c.69C>T (p.Thr23=) SNV
Germline
Chr11:71444884 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA221677 rs_199798127

5 SubmittersRCV000079658RCV001439438RCV002362726RCV003935033

NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) SNV
Germline
Chr11:71444883 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA147253 rs_146867923

9 SubmittersRCV000079659RCV000380891RCV001554963RCV002313767RCV003925050

NM_001360.3(DHCR7):c.841G>A (p.Val281Met) SNV
Germline
Chr11:71437934 Pathogenic/Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA221680 rs_398123607

12 SubmittersRCV000079660RCV000180218RCV000624268RCV003935034

NM_001360.3(DHCR7):c.964-1G>C SNV
Germline
Chr11:71435840 Pathogenic/Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
See cases
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA090917 rs_138659167

58 SubmittersRCV000079661RCV000180570RCV000623789RCV002251968RCV003390775

NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) SNV
Germline
Chr11:71441392 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA233884 rs_143312232

16 SubmittersRCV000179381RCV000790776RCV002312988RCV003917496

NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) SNV
Germline
Chr11:71444106 Conflicting classifications of pathogenicity not specified
Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA233887 rs_144512551

8 SubmittersRCV000153144RCV000897661RCV001487990RCV002415645RCV003917497

NM_001360.3(DHCR7):c.126C>T (p.Ser42=) SNV
Germline
Chr11:71444188 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA233407 rs_150928869

13 SubmittersRCV000152714RCV000633529RCV001657862RCV002316959RCV003975191

NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) SNV
Germline
Chr11:71435711 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA179963 rs_35946774

8 SubmittersRCV000153140RCV000332036RCV001706018RCV002312674

NM_001360.3(DHCR7):c.522C>T (p.Phe174=) SNV
Germline
Chr11:71441331 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA233881 rs_140648594

4 SubmittersRCV000153142RCV001087960

NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) SNV
Germline
Chr11:71435377 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA274163 rs_775034584

3 SubmittersRCV000169316

NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) SNV
Germline
Chr11:71435664 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA274343 rs_779709646

8 SubmittersRCV000169472RCV001171660RCV002453569

NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) SNV
Germline
Chr11:71441392 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA274131 rs_143312232

7 SubmittersRCV000169290

NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) SNV
Germline
Chr11:71444022 Pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA273887 rs_104886039

9 SubmittersRCV000169020RCV000489856RCV005549916

NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) SNV
Germline
Chr11:71444203 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA274449 rs_750345068

5 SubmittersRCV000169596

NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) SNV
Germline
Chr11:71444925 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA243233 rs_139166382

7 SubmittersRCV000177130RCV001832013RCV002433771

NM_001360.3(DHCR7):c.399C>T (p.Ala133=) SNV
Germline
Chr11:71442276 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA246033 rs_147424205

12 SubmittersRCV000243526RCV000400238RCV001706145RCV002312727

NM_001360.3(DHCR7):c.582C>T (p.Phe194=) SNV
Germline
Chr11:71441271 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA246628 rs_150603941

4 SubmittersRCV000179382RCV001081677

NM_001360.3(DHCR7):c.709C>T (p.Leu237=) SNV
Germline
Chr11:71439001 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA247131 rs_755941916

2 SubmittersRCV000179821RCV001083804

NM_001360.3(DHCR7):c.906C>T (p.Phe302=) SNV
Germline
Chr11:71437869 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA247591 rs_80338858

8 SubmittersRCV000724362RCV001086880RCV002372104RCV003937634

NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) SNV
Germline
Chr11:71437868 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
See cases
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA275430 rs_142808899

14 SubmittersRCV000180217RCV000724095RCV002252024RCV002372105RCV003907631

NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) SNV
Germline
Chr11:71435441 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA248056 rs_147850435

5 SubmittersRCV000180568RCV001080017RCV002314676RCV004748640

NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser) SNV
Germline
Chr11:71435533 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA248059 rs_368150818

3 SubmittersRCV000513082RCV002054152

NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) SNV
Germline
Chr11:71435407 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162239 rs_760428437

6 SubmittersRCV000536496RCV000255209

NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) SNV
Germline
Chr7:143330772 Pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Tip-toe gait
CLCN1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA4537163 rs_150885084

13 SubmittersRCV000305463RCV001753743RCV000560216RCV003319192RCV004535246

NM_001360.3(DHCR7):c.740C>T (p.Ala247Val) SNV
Germline
Chr11:71438970 Pathogenic/Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10603223 rs_886041354

6 SubmittersRCV000383910RCV000670451

NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) SNV
Germline
Chr11:71444862 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA6162709 rs_367585401

7 SubmittersRCV000681774RCV001114198RCV001797701

NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) SNV
Germline
Chr11:71435704 Conflicting classifications of pathogenicity Condition: not provided
not specified
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162313 rs_531038145

7 SubmittersRCV000259933RCV003155146RCV001828180RCV002317798

NM_001360.3(DHCR7):c.139C>T (p.Leu47=) SNV
Germline
Chr11:71444175 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
not specified
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162680 rs_140721259

7 SubmittersRCV000279800RCV001483712RCV001532990RCV002314006RCV003909950

NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) SNV
Germline
Chr11:71435665 Pathogenic/Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA6162305 rs_373306653

6 SubmittersRCV000725474RCV000408382RCV002321954

NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) SNV
Germline
Chr11:71442300 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162599 rs_779401555

5 SubmittersRCV000291809RCV001493916RCV002307479RCV002348006

NM_001360.3(DHCR7):c.729C>T (p.Pro243=) SNV
Germline
Chr11:71438981 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA6162478 rs_145284180

7 SubmittersRCV000375257RCV001086349RCV002379139RCV005238847

NM_001360.3(DHCR7):c.855C>T (p.Phe285=) SNV
Germline
Chr11:71437920 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162415 rs_781026169

5 SubmittersRCV000352664RCV001088276RCV003967772

NM_001360.3(DHCR7):c.927C>A (p.Gly309=) SNV
Germline
Chr11:71437848 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162402 rs_149974099

8 SubmittersRCV000275747RCV000344149RCV002314029RCV003910023

NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) SNV
Germline
Chr11:71437935 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162416 rs_148468879

6 SubmittersRCV000263526RCV000394015RCV003967791RCV003380538

NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=) SNV
Germline
Chr11:71435438 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162248 rs_557097410

5 SubmittersRCV000333245RCV001085996RCV002317822

NM_001360.3(DHCR7):c.198C>T (p.Cys66=) SNV
Germline
Chr11:71444116 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162667 rs_775127532

3 SubmittersRCV000376184RCV001485677RCV003967798

NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) SNV
Germline
Chr11:71435530 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162273 rs_760242

7 SubmittersRCV000316974RCV000595632RCV003920263RCV002374522

NM_001360.3(DHCR7):c.964-1G>T SNV
Germline
Chr11:71435840 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA6162346 rs_138659167

12 SubmittersRCV000383519RCV001538276RCV002522204RCV003391078

NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) SNV
Germline
Chr11:71435414 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162241 rs_200477386

4 SubmittersRCV000301805RCV003298368

NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu) SNV
Germline
Chr11:71435720 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA6162320 rs_780088227

2 SubmittersRCV000292578

NM_001360.3(DHCR7):c.99-5C>T SNV
Germline
Chr11:71444220 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162688 rs_372886043

8 SubmittersRCV000328550RCV000591841RCV002379182RCV003930297

NM_001360.3(DHCR7):c.-195G>T SNV
Germline
Chr11:71448353 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10639335 rs_141057811

4 SubmittersRCV000278979RCV001785555

NM_001360.3(DHCR7):c.*119G>A SNV
Germline
Chr11:71435256 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10640023 rs_151230950

4 SubmittersRCV000361729RCV001575569

NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) SNV
Germline
Chr11:71435712 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162314 rs_567600444

9 SubmittersRCV000386515RCV000503164RCV000731830RCV002314045RCV003950037

NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter) SNV
Unknown
Chr11:71435604 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA16041545 rs_1057516493

1 SubmittersRCV000411064

NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter) SNV
Germline
Chr11:71435812 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA16041548 rs_1057516610

2 SubmittersRCV000409015

NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter) SNV
Unknown
Chr11:71435822 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA16041549 rs_1057516375

1 SubmittersRCV000411396

NM_001360.3(DHCR7):c.963+2T>G SNV
Germline
Chr11:71437810 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA16041550 rs_1057517070

3 SubmittersRCV000410293

NM_001360.3(DHCR7):c.963+1G>T SNV
Germline
Chr11:71437811 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA16041551 rs_1057516973

3 SubmittersRCV000411265

NM_001360.3(DHCR7):c.831+2T>A SNV
Germline
Chr11:71438877 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA16041552 rs_1057516920

3 SubmittersRCV000409593

NM_001360.3(DHCR7):c.627-1G>A SNV
Germline
Chr11:71439084 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA16041554 rs_1057517210

3 SubmittersRCV000411331

NM_001360.3(DHCR7):c.413-1G>A SNV
Unknown
Chr11:71441441 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA16041555 rs_1057517307

1 SubmittersRCV000409542

NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter) SNV
Germline
Chr11:71444871 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162713 rs_756564881

3 SubmittersRCV000411258

NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter) SNV
Germline
Chr11:71444937 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA16041556 rs_1057516977

2 SubmittersRCV000411661

NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) SNV
Germline
Chr11:71435792 Conflicting classifications of pathogenicity not specified
Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162334 rs_369382960

4 SubmittersRCV000428469RCV000734339RCV001274174

NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) SNV
Germline
Chr11:71441413 Pathogenic/Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA6162559 rs_777425801

9 SubmittersRCV000421810RCV000665794

NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) SNV
Germline
Chr11:71435475 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162261 rs_781687341

7 SubmittersRCV000449623RCV002473005

NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) SNV
Germline
Chr11:71444864 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162711 rs_200334114

13 SubmittersRCV000449598RCV000728279RCV002374732RCV003418143

NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) SNV
Germline
Chr11:71439055 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA6162499 rs_779896782

7 SubmittersRCV000493359RCV000668765RCV002271516

NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) SNV
Germline
Chr11:71435466 Pathogenic/Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA6162258 rs_751604696

10 SubmittersRCV000498273RCV000576656RCV002311810

NM_001360.3(DHCR7):c.964-5C>T SNV
Germline
Chr11:71435844 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162348 rs_767108226

4 SubmittersRCV000507384RCV002496966RCV002527349

NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) SNV
Germline
Chr11:71435397 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162236 rs_201150384

5 SubmittersRCV000519844RCV000670231RCV003392349

NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) SNV
Germline
Chr11:71435785 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162332 rs_148081697

3 SubmittersRCV000551112RCV002314950

NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) SNV
Germline
Chr11:71435833 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381702573 rs_1173707321

4 SubmittersRCV000525900RCV001280755

NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) SNV
Germline
Chr11:71441383 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162556 rs_753960624

9 SubmittersRCV000578237RCV000724648

NM_001360.3(DHCR7):c.123G>A (p.Ala41=) SNV
Germline
Chr11:71444191 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162684 rs_376263149

2 SubmittersRCV000597018RCV001416167

NM_001360.3(DHCR7):c.882C>T (p.Thr294=) SNV
Germline
Chr11:71437893 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162408 rs_748858240

2 SubmittersRCV000596624RCV001459056

NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys) SNV
Germline
Chr11:71439040 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162492 rs_373121544

4 SubmittersRCV000596201RCV000671914

NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) SNV
Germline
Chr11:71437913 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162412 rs_565893436

9 SubmittersRCV000593358RCV000674146RCV001267309RCV004748841

NM_001360.3(DHCR7):c.723G>T (p.Gly241=) SNV
Germline
Chr11:71438987 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162480 rs_369654651

3 SubmittersRCV000597719RCV001088762RCV003302920

NM_001360.3(DHCR7):c.92G>A (p.Arg31His) SNV
Germline
Chr11:71444861 Conflicting classifications of pathogenicity Condition: not provided
not specified
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162708 rs_370307688

6 SubmittersRCV000594191RCV001821731RCV003617849

NM_001360.3(DHCR7):c.1410G>A (p.Leu470=) SNV
Germline
Chr11:71435393 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162233 rs_375993195

5 SubmittersRCV000592908RCV001275364RCV002315895RCV003962723

NM_001360.3(DHCR7):c.288C>T (p.Ala96=) SNV
Germline
Chr11:71444026 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162646 rs_745595242

6 SubmittersRCV000595639RCV001083941RCV004024831RCV004748848

NM_001360.3(DHCR7):c.412+4G>A SNV
Germline
Chr11:71442259 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162588 rs_776841323

3 SubmittersRCV000616541RCV002532795RCV003935697

NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) SNV
Germline
Chr11:71435394 Pathogenic/Likely pathogenic Inborn genetic diseases
Smith-Lemli-Opitz syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381700454 rs_1331331095

4 SubmittersRCV000622787RCV000762863

NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys) SNV
Unknown
Chr11:71435377 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA381700381 rs_775034584

1 SubmittersRCV000674641

NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) SNV
Germline
Chr11:71435454 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA224323879 rs_542266962

7 SubmittersRCV000674850RCV003226367RCV002317913RCV001556929

NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) SNV
Germline
Chr11:71435593 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381701468 rs_61757582

2 SubmittersRCV000674716

NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro) SNV
Germline
Chr11:71435724 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702131 rs_1555145619

2 SubmittersRCV000668758

NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) SNV
Germline
Chr11:71435781 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA381702390 rs_1317526744

4 SubmittersRCV000666425RCV002369797RCV002510951

NM_001360.3(DHCR7):c.808A>G (p.Met270Val) SNV
Germline
Chr11:71438902 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381703233 rs_1555146021

3 SubmittersRCV000672300

NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser) SNV
Germline
Chr11:71439006 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703447 rs_1555146061

2 SubmittersRCV000665754

NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) SNV
Germline
Chr11:71441332 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA6162542 rs_769218623

6 SubmittersRCV000670698RCV001797780

NM_001360.3(DHCR7):c.413-2A>G SNV
Germline
Chr11:71441442 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162564 rs_775575609

4 SubmittersRCV000664497

NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) SNV
Germline
Chr11:71442349 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA224280150 rs_121912195

6 SubmittersRCV000665858RCV001568654RCV002442392

NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) SNV
Germline
Chr11:71435476 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162263 rs_535561852

5 SubmittersRCV000673491

NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) SNV
Germline
Chr11:71435526 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381701125 rs_1354718634

2 SubmittersRCV000669736

NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His) SNV
Germline
Chr11:71435581 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA224324187 rs_1046560765

5 SubmittersRCV000667912RCV003327443

NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val) SNV
Germline
Chr11:71435706 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702049 rs_1555145614

2 SubmittersRCV000666844

NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter) SNV
Germline
Chr11:71437836 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702926 rs_1555145862

2 SubmittersRCV000664491

NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys) SNV
Germline
Chr11:71437914 Likely pathogenic Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Single Submitter
CA6162413 rs_766495775

3 SubmittersRCV000675015RCV004748898

NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) SNV
Germline
Chr11:71439028 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6162491 rs_775773057

6 SubmittersRCV000674773RCV002282323RCV001267993

NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro) SNV
Germline
Chr11:71444018 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162643 rs_104886041

4 SubmittersRCV000668709RCV000756013

NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) SNV
Germline
Chr11:71435461 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA381700721 rs_80338864

5 SubmittersRCV000670693RCV001556238RCV002222595

NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter) SNV
Germline
Chr11:71435657 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381701822 rs_1555145605

5 SubmittersRCV000667423

NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter) SNV
Germline
Chr11:71437860 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702981 rs_1555145867

2 SubmittersRCV000672544

NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter) SNV
Unknown
Chr11:71437881 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA381703032 rs_769639753

1 SubmittersRCV000668079

NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter) SNV
Germline
Chr11:71437905 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162410 rs_774187452

3 SubmittersRCV000667799

NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) SNV
Germline
Chr11:71438982 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162479 rs_777248132

4 SubmittersRCV000674586RCV005414528

NM_001360.3(DHCR7):c.626+1G>T SNV
Germline
Chr11:71441226 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694276 rs_1471145742

2 SubmittersRCV000673429

NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) SNV
Germline
Chr11:71435427 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381700586 rs_1555145550

3 SubmittersRCV000674614

NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) SNV
Germline
Chr11:71435467 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6162259 rs_145043679

4 SubmittersRCV000666265RCV002530674RCV004588093

NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) SNV
Germline
Chr11:71435593 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381701470 rs_61757582

4 SubmittersRCV000668128

NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter) SNV
Unknown
Chr11:71437917 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA381703114 rs_1555145877

1 SubmittersRCV000671381

NM_001360.3(DHCR7):c.626+1G>C SNV
Unknown
Chr11:71441226 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA381694277 rs_1471145742

1 SubmittersRCV000673564

NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) SNV
Germline
Chr11:71441420 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381694688 rs_1555146475

4 SubmittersRCV000674923

NM_001360.3(DHCR7):c.322-2A>G SNV
Unknown
Chr11:71442355 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA381695221 rs_1555146618

1 SubmittersRCV000674568

NM_001360.3(DHCR7):c.99-1G>C SNV
Germline
Chr11:71444216 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided
CA381696766 rs_1451108193

2 SubmittersRCV000664963

NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) SNV
Germline
Chr11:71435719 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA6162319 rs_371302153

4 SubmittersRCV000681854RCV002485579RCV001844225

NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) SNV
Germline
Chr11:71435613 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA6162291 rs_773134475

6 SubmittersRCV000805883RCV002312433

NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) SNV
Germline
Chr11:71444088 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162660 rs_368473756

6 SubmittersRCV000728546RCV000882330RCV001672935RCV002316093

NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) SNV
Germline
Chr11:71435716 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA6162316 rs_547012639

7 SubmittersRCV000734205RCV001825434RCV002316028RCV003155295

NM_001360.3(DHCR7):c.987C>T (p.Pro329=) SNV
Germline
Chr11:71435816 Conflicting classifications of pathogenicity not specified
Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162344 rs_145901607

7 SubmittersRCV000730756RCV000876229RCV001619826RCV002314445RCV003918162

NM_001360.3(DHCR7):c.1005G>A (p.Pro335=) SNV
Germline
Chr11:71435798 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162336 rs_768765843

2 SubmittersRCV000728106RCV002060967

NM_001360.3(DHCR7):c.957G>A (p.Thr319=) SNV
Germline
Chr11:71437818 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162397 rs_200157761

4 SubmittersRCV000728646RCV001468387RCV003908022RCV005328376

NM_001360.3(DHCR7):c.771G>A (p.Ala257=) SNV
Germline
Chr11:71438939 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162464 rs_200232012

4 SubmittersRCV000728929RCV001472401RCV004026961

NM_001360.3(DHCR7):c.318C>T (p.Phe106=) SNV
Germline
Chr11:71443996 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA475519984 rs_1386646132

3 SubmittersRCV000729326RCV001475008RCV002325446

NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) SNV
Germline
Chr11:71435648 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA6162298 rs_777517985

5 SubmittersRCV000730127RCV001079656RCV002360854RCV003155298

NM_001360.3(DHCR7):c.15G>A (p.Ser5=) SNV
Germline
Chr11:71444938 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162731 rs_147038941

5 SubmittersRCV000730405RCV001081042RCV002397509

NM_001360.3(DHCR7):c.902A>G (p.His301Arg) SNV
Germline
Chr11:71437873 Pathogenic/Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381703011 rs_1565586067

4 SubmittersRCV000730533RCV001027946

NM_001360.3(DHCR7):c.795T>C (p.His265=) SNV
Germline
Chr11:71438915 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA475569396 rs_1472363309

2 SubmittersRCV000730593RCV001393876

NM_001360.3(DHCR7):c.1152C>T (p.Ser384=) SNV
Germline
Chr11:71435651 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162300 rs_145084285

3 SubmittersRCV000730599RCV001088788RCV002343597

NM_001360.3(DHCR7):c.615C>T (p.Ser205=) SNV
Germline
Chr11:71441238 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162524 rs_561379509

3 SubmittersRCV000730833RCV001476900RCV004026999

NM_001360.3(DHCR7):c.1203C>T (p.Gly401=) SNV
Germline
Chr11:71435600 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162289 rs_368867929

3 SubmittersRCV000732800RCV002343603RCV002535292

NM_001360.3(DHCR7):c.963+7A>G SNV
Germline
Chr11:71437805 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162394 rs_775201083

2 SubmittersRCV000733096RCV002067142

NM_001360.3(DHCR7):c.831+7G>A SNV
Germline
Chr11:71438872 Conflicting classifications of pathogenicity Condition: not provided
Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA600241269 rs_1318919210

3 SubmittersRCV000734126RCV002067162RCV003892667

NM_001360.3(DHCR7):c.429T>G (p.Tyr143Ter) SNV
Germline
Chr11:71441424 Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Single Submitter
CA381694696 rs_1393186135

2 SubmittersRCV000760785RCV001830661

NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) SNV
Germline
Chr11:71441307 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA224279792 rs_1032242817

6 SubmittersRCV000761593RCV003166024

NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys) SNV
Germline
Chr11:71441415 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162560 rs_949177

4 SubmittersRCV000779078RCV003222128

NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter) SNV
Germline
Chr11:71439059 Pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162500 rs_749076525

4 SubmittersRCV000781323RCV001572260

NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) SNV
Germline
Chr11:71437868 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA6162404 rs_142808899

3 SubmittersRCV000794082

NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) SNV
Germline
Chr11:71437923 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA224326709 rs_184297154

5 SubmittersRCV000815482RCV002442731

NM_001360.3(DHCR7):c.1A>C (p.Met1Leu) SNV
Unknown
Chr11:71444952 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381697227 rs_104886033

1 SubmittersRCV000856756

NM_001360.3(DHCR7):c.765C>T (p.Phe255=) SNV
Germline
Chr11:71438945 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA6162468 rs_200132007

9 SubmittersRCV001000753RCV001546710RCV002390816RCV004782586

NM_001360.3(DHCR7):c.99-10G>A SNV
Germline
Chr11:71444225 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162689 rs_189549129

7 SubmittersRCV000874722RCV001193585RCV001698674RCV003948217

NM_001360.3(DHCR7):c.735C>T (p.Ile245=) SNV
Germline
Chr11:71438975 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Inborn genetic diseases
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162477 rs_12800

7 SubmittersRCV000882022RCV001575090RCV002382030RCV003895411

NM_001360.3(DHCR7):c.322-7G>A SNV
Germline
Chr11:71442360 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA679803182 rs_1359774813

2 SubmittersRCV001110850

NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter) SNV
Germline
Chr11:71435513 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162269 rs_140791666

2 SubmittersRCV001004586

NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) SNV
Germline
Chr11:71435584 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162285 rs_770819693

4 SubmittersRCV001004587

NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter) SNV
Germline
Chr11:71435691 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381702003 rs_1591107421

2 SubmittersRCV001004588

NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter) SNV
Germline
Chr11:71439014 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381703470 rs_1591109892

2 SubmittersRCV001004374

NM_001360.3(DHCR7):c.321G>C (p.Gln107His) SNV
Germline
Chr11:71443993 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA6162641 rs_104886040

4 SubmittersRCV001004377

NM_001360.3(DHCR7):c.127G>A (p.Val43Ile) SNV
Germline
Chr11:71444187 Conflicting classifications of pathogenicity Microcephaly
Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6162683 rs_200984695

6 SubmittersRCV001252793RCV002264993RCV002481808RCV002372729

NM_001360.3(DHCR7):c.1325A>G (p.His442Arg) SNV
Germline
Chr11:71435478 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA381700842 rs_1949265616

2 SubmittersRCV001059047RCV005432557

NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly) SNV
Germline
Chr11:71435719 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702106 rs_371302153

1 SubmittersRCV001048197

NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn) SNV
Germline
Chr11:71437823 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702899 rs_1177326550

1 SubmittersRCV001048198

NM_001360.3(DHCR7):c.*226C>T SNV
Germline
Chr11:71435149 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6162204 rs_185557595

3 SubmittersRCV001109993RCV003222225

NM_001360.3(DHCR7):c.*28G>T SNV
Germline
Chr11:71435347 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6162223 rs_114143715

2 SubmittersRCV001109999RCV001571273

NM_001360.3(DHCR7):c.231C>G (p.Thr77=) SNV
Germline
Chr11:71444083 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA475520511 rs_4316537

2 SubmittersRCV001112841

NM_001360.3(DHCR7):c.99-11C>T SNV
Germline
Chr11:71444226 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA6162690 rs_371964662

2 SubmittersRCV001114197

NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter) SNV
Germline
Chr11:71441352 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694550 rs_1427321619

2 SubmittersRCV001193583

NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu) SNV
Germline
Chr11:71435585 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA381701426 rs_1949268068

6 SubmittersRCV001207177RCV001819896RCV002509629RCV005540299

NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter) SNV
Unknown
Chr11:71439083 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703982 rs_1949322246

1 SubmittersRCV001263646

NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter) SNV
Germline
Chr11:71442287 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381694867 rs_1949357136

2 SubmittersRCV001263930

NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter) SNV
Unknown
Chr11:71444014 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381695963 rs_1949375897

1 SubmittersRCV001263931

NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter) SNV
Unknown
Chr11:71444198 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696720 rs_1467346010

1 SubmittersRCV001263932

NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys) SNV
Germline
Chr11:71435582 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381701409 rs_1481450955

2 SubmittersRCV001286268

NM_001360.3(DHCR7):c.322-1G>A SNV
Germline
Chr11:71442354 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381695218 rs_1565588719

3 SubmittersRCV001328809

NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) SNV
Germline
Chr11:71438928 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA381703289 rs_1406131499

3 SubmittersRCV001343203RCV001751671

NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) SNV
Germline
Chr11:71435466 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA381700763 rs_751604696

2 SubmittersRCV001378030

NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu) SNV
Germline
Chr11:71435475 Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA6162262 rs_781687341

3 SubmittersRCV001377821RCV002291753RCV003898362

NM_001360.3(DHCR7):c.1324C>G (p.His442Asp) SNV
Germline
Chr11:71435479 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381700849 rs_2135939533

1 SubmittersRCV001376981

NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys) SNV
Germline
Chr11:71442301 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694941 rs_2135945513

1 SubmittersRCV001378034

NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro) SNV
Germline
Chr11:71435475 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162260 rs_781687341

2 SubmittersRCV001384493

NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys) SNV
Germline
Chr11:71435508 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381701018 rs_1565584679

2 SubmittersRCV001390625

NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr) SNV
Germline
Chr11:71438971 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA6162474 rs_767031102

3 SubmittersRCV001387184RCV003331145

NM_001360.3(DHCR7):c.600C>G (p.Tyr200Ter) SNV
Germline
Chr11:71441253 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694339 rs_2135944550

1 SubmittersRCV001390320

NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter) SNV
Germline
Chr11:71441308 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162538 rs_536394774

3 SubmittersRCV001387625

NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) SNV
Germline
Chr11:71435449 Conflicting classifications of pathogenicity not specified
Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA6162250 rs_140400648

5 SubmittersRCV001420836RCV001664869RCV001831472

NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr) SNV
Germline
Chr11:71441305 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381694450 rs_2135944619

2 SubmittersRCV001808194

NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter) SNV
Germline
Chr11:71438966 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381703366 rs_104894212

2 SubmittersRCV001839372

NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser) SNV
Germline
Chr11:71438971 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703374 rs_767031102

1 SubmittersRCV001978000

NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser) SNV
Germline
Chr11:71438983 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381703395 rs_1329227520

2 SubmittersRCV002018898

NM_001360.3(DHCR7):c.977T>G (p.Val326Gly) SNV
Germline
Chr11:71435826 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702554 rs_1333822866

1 SubmittersRCV001984345

NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys) SNV
Germline
Chr11:71437822 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702895 rs_1457166572

1 SubmittersRCV001994199

NM_001360.3(DHCR7):c.322-1G>C SNV
Germline
Chr11:71442354 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381695216 rs_1565588719

1 SubmittersRCV001996273

NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His) SNV
Germline
Chr11:71435509 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA6162267 rs_747656720

1 SubmittersRCV002006640

NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr) SNV
Germline
Chr11:71438889 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA6162452 rs_774275482

1 SubmittersRCV001971809

NM_001360.3(DHCR7):c.1220A>G (p.Asn407Ser) SNV
Germline
Chr11:71435583 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA6162284 rs_746591926

1 SubmittersRCV001942267

NM_001360.3(DHCR7):c.1083C>G (p.Phe361Leu) SNV
Germline
Chr11:71435720 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA381702110 rs_780088227

2 SubmittersRCV001946599RCV004690197

NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) SNV
Germline
Chr11:71435718 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Conflicting Classifications
CA6162317 rs_142213147

5 SubmittersRCV001971954RCV004749793

NM_001360.3(DHCR7):c.925G>A (p.Gly309Ser) SNV
Germline
Chr11:71437850 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702959 rs_2135941811

1 SubmittersRCV001972753

NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys) SNV
Germline
Chr11:71438888 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA6162451 rs_139787408

2 SubmittersRCV001972754

NM_001360.3(DHCR7):c.575C>T (p.Ser192Phe) SNV
Germline
Chr11:71441278 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA6162531 rs_766299724

2 SubmittersRCV001949400RCV004770316

NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) SNV
Germline
Chr11:71435575 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
DHCR7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA381701371 rs_80338862

5 SubmittersRCV001972582RCV003418255

NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe) SNV
Germline
Chr11:71435580 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381701397 rs_1219026826

1 SubmittersRCV002006262

NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter) SNV
Germline
Chr11:71435443 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381700648 rs_2135939478

1 SubmittersRCV001896349

NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) SNV
Germline
Chr11:71435379 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA381700390 rs_1478872904

4 SubmittersRCV002023987RCV002463105RCV003388085

NM_001360.3(DHCR7):c.322-9G>A SNV
Germline
Chr11:71442362 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA2573147616 rs_2135945639

2 SubmittersRCV002147004

NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=) SNV
Germline
Chr11:71435549 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA475860997 rs_1949267339

2 SubmittersRCV002153625RCV003886568

NM_001360.3(DHCR7):c.1211G>A (p.Arg404His) SNV
Germline
Chr11:71435592 Likely pathogenic Condition: not provided
Smith-Lemli-Opitz syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381701465 rs_1949268223

2 SubmittersRCV002211197RCV003507402

NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr) SNV
Germline
Chr11:71444117 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696534 rs_2120355008

1 SubmittersRCV002249025

NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg) SNV
Germline
Chr11:71435452 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162251 rs_761458977

4 SubmittersRCV002289056RCV003154241

NM_001360.3(DHCR7):c.473G>A (p.Trp158Ter) SNV
Germline
Chr11:71441380 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694608 rs_1343783336

1 SubmittersRCV002308585

NM_001360.3(DHCR7):c.567T>A (p.Tyr189Ter) SNV
Unknown
Chr11:71441286 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694407 rs_2539227728

1 SubmittersRCV002309936

NM_001360.3(DHCR7):c.305T>A (p.Leu102Ter) SNV
Unknown
Chr11:71444009 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381695940 rs_1342235041

1 SubmittersRCV002310196

NM_001360.3(DHCR7):c.439G>A (p.Gly147Ser) SNV
Germline
Chr11:71441414 Conflicting classifications of pathogenicity Inborn genetic diseases
Smith-Lemli-Opitz syndrome
Criteria Provided
Conflicting Classifications
CA381694674 rs_1248898751

2 SubmittersRCV002333704RCV005002827

NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala) SNV
Germline
Chr11:71435406 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381700493 rs_2539207660

1 SubmittersRCV003062426

NM_001360.3(DHCR7):c.1039G>A (p.Gly347Ser) SNV
Germline
Chr11:71435764 Pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381702314 rs_2135940013

2 SubmittersRCV003062427RCV005433302

NM_001360.3(DHCR7):c.818T>G (p.Val273Gly) SNV
Germline
Chr11:71438892 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome
not specified
Criteria Provided
Conflicting Classifications
CA381703209 rs_2539220754

2 SubmittersRCV003062429RCV003235759

NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln) SNV
Germline
Chr11:71439027 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA6162490 rs_201556114

2 SubmittersRCV003062430

NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn) SNV
Germline
Chr11:71441320 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694480 rs_2539227981

1 SubmittersRCV003058338

NM_001360.3(DHCR7):c.952T>C (p.Tyr318His) SNV
Germline
Chr11:71437823 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702898 rs_1177326550

1 SubmittersRCV003071562

NM_001360.3(DHCR7):c.249G>A (p.Ser83=) SNV
Germline
Chr11:71444065 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA6162653 rs_759192320

2 SubmittersRCV003085460

NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys) SNV
Germline
Chr11:71435455 Likely pathogenic Smith-Lemli-Opitz syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6162254 rs_765154144

2 SubmittersRCV002587904RCV005434003

NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser) SNV
Germline
Chr11:71444865 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA381696867 rs_1222259994

2 SubmittersRCV002632114

NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val) SNV
Germline
Chr11:71435763 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA6162329 rs_770174208

1 SubmittersRCV002775319

NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter) SNV
Germline
Chr11:71435399 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381700465 rs_1949262812

1 SubmittersRCV002797174

NM_001360.3(DHCR7):c.474G>A (p.Trp158Ter) SNV
Germline
Chr11:71441379 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694605 rs_766443353

1 SubmittersRCV002871775

NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys) SNV
Germline
Chr11:71441307 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694454 rs_1032242817

1 SubmittersRCV002867733

NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro) SNV
Germline
Chr11:71438985 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381703399 rs_80338857

2 SubmittersRCV002894712

NM_001360.3(DHCR7):c.412+2T>C SNV
Germline
Chr11:71442261 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694739 rs_2539231409

1 SubmittersRCV003029615

NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys) SNV
Germline
Chr11:71435418 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381700543 rs_2135939447

1 SubmittersRCV003054609

NM_001360.3(DHCR7):c.1113G>A (p.Trp371Ter) SNV
Germline
Chr11:71435690 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381701992 rs_1294449428

1 SubmittersRCV003066242

NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter) SNV
Unknown
Chr11:71444215 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696764 rs_2539237303

1 SubmittersRCV003148487

NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter) SNV
Germline
Chr11:71437864 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381702993 rs_2539216620

2 SubmittersRCV003225697

NM_001360.3(DHCR7):c.248C>A (p.Ser83Ter) SNV
Germline
Chr11:71444066 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696328 rs_764847274

1 SubmittersRCV003508112

NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu) SNV
Germline
Chr11:71437867 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702999 rs_2539216631

1 SubmittersRCV003508418

NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter) SNV
Germline
Chr11:71444127 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381696573 rs_1372014207

2 SubmittersRCV003508253

NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp) SNV
Germline
Chr11:71444864 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696865 rs_200334114

1 SubmittersRCV003508456

NM_001360.3(DHCR7):c.877A>T (p.Lys293Ter) SNV
Germline
Chr11:71437898 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703070 rs_1591109039

1 SubmittersRCV003508828

NM_001360.3(DHCR7):c.901C>A (p.His301Asn) SNV
Germline
Chr11:71437874 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703014 rs_1267495194

1 SubmittersRCV003508913

NM_001360.3(DHCR7):c.986C>T (p.Pro329Leu) SNV
Germline
Chr11:71435817 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702529 rs_2539210698

1 SubmittersRCV003508852

NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys) SNV
Germline
Chr11:71441307 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694455 rs_1032242817

1 SubmittersRCV003508853

NM_001360.3(DHCR7):c.373T>C (p.Tyr125His) SNV
Germline
Chr11:71442302 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694948 rs_1949357539

1 SubmittersRCV003506797

NM_001360.3(DHCR7):c.862G>T (p.Glu288Ter) SNV
Germline
Chr11:71437913 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703104 rs_565893436

1 SubmittersRCV003507120

NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu) SNV
Germline
Chr11:71438985 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703398 rs_80338857

1 SubmittersRCV003506943

NM_001360.3(DHCR7):c.817G>A (p.Val273Ile) SNV
Germline
Chr11:71438893 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703214 rs_2539220764

1 SubmittersRCV003507969

NM_001360.3(DHCR7):c.1365C>A (p.Tyr455Ter) SNV
Germline
Chr11:71435438 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381700622 rs_557097410

1 SubmittersRCV003507798

NM_001360.3(DHCR7):c.110G>A (p.Trp37Ter) SNV
Germline
Chr11:71444204 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696736 rs_2539237238

1 SubmittersRCV003618108

NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser) SNV
Germline
Chr11:71435404 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381700486 rs_750211727

1 SubmittersRCV003618208

NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg) SNV
Germline
Chr11:71437868 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381703000 rs_142808899

3 SubmittersRCV003618247

NM_001360.3(DHCR7):c.1224C>G (p.Tyr408Ter) SNV
Germline
Chr11:71435579 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381701393 rs_777148033

1 SubmittersRCV003618213

NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe) SNV
Germline
Chr11:71435451 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381700677 rs_1325144749

1 SubmittersRCV003618289

NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly) SNV
Germline
Chr11:71438940 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381703312 rs_770925697

2 SubmittersRCV003618308

NM_001360.3(DHCR7):c.964-2A>C SNV
Germline
Chr11:71435841 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702596 rs_2539210878

1 SubmittersRCV003618388

NM_001360.3(DHCR7):c.904T>G (p.Phe302Val) SNV
Germline
Chr11:71437871 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703006 rs_2539216665

1 SubmittersRCV003618420

NM_001360.3(DHCR7):c.375C>G (p.Tyr125Ter) SNV
Germline
Chr11:71442300 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694936 rs_779401555

1 SubmittersRCV003618647

NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp) SNV
Germline
Chr11:71437849 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381702956 rs_1565586046

1 SubmittersRCV003618525

NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu) SNV
Germline
Chr11:71444162 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696652 rs_1949379416

1 SubmittersRCV003618571

NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp) SNV
Germline
Chr11:71437937 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703160 rs_2539217163

1 SubmittersRCV003617491

NM_001360.3(DHCR7):c.375C>A (p.Tyr125Ter) SNV
Germline
Chr11:71442300 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381694934 rs_779401555

1 SubmittersRCV003617543

NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter) SNV
Germline
Chr11:71444877 Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381696893 rs_1949389789

2 SubmittersRCV003617668

NM_001360.3(DHCR7):c.651C>G (p.Tyr217Ter) SNV
Germline
Chr11:71439059 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381703659 rs_749076525

1 SubmittersRCV003617751

NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys) SNV
Germline
Chr11:71444036 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696172 rs_80338853

1 SubmittersRCV003829575

NM_001360.3(DHCR7):c.98+1G>T SNV
Germline
Chr11:71444854 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter
CA381696847 rs_2539239056

1 SubmittersRCV003853217

NM_001360.3(DHCR7):c.413-12C>T SNV
Germline
Chr11:71441452 Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome Criteria Provided
Conflicting Classifications
CA6162565 rs_762754951

2 SubmittersRCV003877011

NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly) SNV
Germline
Chr11:71435476 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA381700830 rs_535561852

2 SubmittersRCV004526570

NM_001360.3(DHCR7):c.963+1G>A SNV
Germline
Chr11:71437811 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690676

NM_001360.3(DHCR7):c.1349G>T (p.Arg450Leu) SNV
Germline
Chr11:71435454 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005006671

NM_001360.3(DHCR7):c.831+1G>T SNV
Germline
Chr11:71438878 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005006676

NM_001360.3(DHCR7):c.523G>C (p.Asp175His) SNV
Germline
Chr11:71441330 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005006682

NM_001360.3(DHCR7):c.98+1G>C SNV
Germline
Chr11:71444854 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005004675

NM_001360.3(DHCR7):c.98+2T>C SNV
Germline
Chr11:71444853 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005130324

NM_001360.3(DHCR7):c.938G>A (p.Trp313Ter) SNV
Germline
Chr11:71437837 Pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005185238

NM_001360.3(DHCR7):c.1211G>T (p.Arg404Leu) SNV
Germline
Chr11:71435592 Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter

2 SubmittersRCV005200700

NM_001360.3(DHCR7):c.963+1G>C SNV
Germline
Chr11:71437811 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided

1 SubmittersRCV005619137

NM_001360.3(DHCR7):c.906C>A (p.Phe302Leu) SNV
Germline
Chr11:71437869 Likely pathogenic Smith-Lemli-Opitz syndrome No Assertion Criteria Provided

1 SubmittersRCV005619187