Total 66 pathogenic variants reported for X-linked hydrocephalus syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001278116.2(L1CAM):c.2432-19A>C SNV
Germline		 ChrX:153865838 Pathogenic X-linked hydrocephalus syndrome No Assertion Criteria Provided
 CA10575510 rs_879253713

1 SubmittersRCV000010666
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) SNV
Germline		 ChrX:153870403 Pathogenic X-linked hydrocephalus syndrome No Assertion Criteria Provided
 CA254954 rs_137852518

1 SubmittersRCV000010667
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) SNV
Germline		 ChrX:153868866 Pathogenic X-linked hydrocephalus syndrome
Condition: not provided
Spastic paraplegia
L1 syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254958 rs_137852520

6 SubmittersRCV000010671RCV000254986RCV000685761RCV001553633
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) SNV
Germline		 ChrX:153870933 Pathogenic X-linked hydrocephalus syndrome
L1 syndrome
Inborn genetic diseases
Spastic paraplegia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254959 rs_137852521

5 SubmittersRCV000010672RCV001824565RCV002345239RCV003588560
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) SNV
Germline		 ChrX:153862856 Pathogenic/Likely pathogenic X-linked hydrocephalus syndrome
MASA syndrome
Condition: not provided
Severe hydrocephalus
Hydrops fetalis
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254960 rs_137852522

5 SubmittersRCV000010674RCV000010675RCV000413812RCV001257378RCV002460037
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) SNV
Germline		 ChrX:153869818 Pathogenic MASA syndrome
Condition: not provided
Spastic paraplegia
X-linked hydrocephalus syndrome
L1CAM-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254962 rs_137852524

5 SubmittersRCV000010677RCV000255983RCV000815545RCV001198070RCV004562202
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) SNV
Germline		 ChrX:153866826 Pathogenic Condition: not provided
X-linked hydrocephalus syndrome
Spastic paraplegia
L1 syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120881 rs_137852525

4 SubmittersRCV001794442RCV003151718RCV003588561RCV006249553
NM_001278116.2(L1CAM):c.1939+5G>A SNV
Germline		 ChrX:153867795 Likely pathogenic Spastic paraplegia
X-linked hydrocephalus syndrome		 Criteria Provided
Single Submitter
 CA10575513 rs_879253716

2 SubmittersRCV000794947RCV003151719
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) SNV
Germline		 ChrX:153870475 Pathogenic/Likely pathogenic X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome
Congenital cerebellar hypoplasia
Condition: not provided
MASA syndrome
L1 syndrome
Spastic paraplegia
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome
MASA syndrome
L1CAM-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120882 rs_137852526

14 SubmittersRCV000010684RCV000010683RCV001257991RCV001093004RCV004527287RCV004689412RCV003588562RCV005049327RCV005862707
NM_001278116.2(L1CAM):c.3458-1G>C SNV
Germline		 ChrX:153863550 Pathogenic X-linked hydrocephalus syndrome No Assertion Criteria Provided
 CA10575545 rs_879253724

1 SubmittersRCV000022879
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) SNV
Germline		 ChrX:153865714 Conflicting classifications of pathogenicity not specified
Hereditary spastic paraplegia
Spastic paraplegia
Inborn genetic diseases
X-linked hydrocephalus syndrome		 Criteria Provided
Conflicting Classifications
 CA172446 rs_149737236

5 SubmittersRCV000431818RCV001847778RCV002515965RCV002453468RCV006270224
NM_001278116.2(L1CAM):c.400+9C>T SNV
Germline		 ChrX:153872143 Conflicting classifications of pathogenicity Spastic paraplegia
X-linked hydrocephalus syndrome		 Criteria Provided
Conflicting Classifications
 CA172448 rs_201057718

2 SubmittersRCV002512577RCV006270225
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) SNV
Germline		 ChrX:153870123 Pathogenic/Likely pathogenic X-linked hydrocephalus syndrome
Condition: not provided
L1CAM-related disorder
Spastic paraplegia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275426 rs_797044787

5 SubmittersRCV000180160RCV000724594RCV003407666RCV005089898
NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys) SNV
Germline		 ChrX:153866729 Pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 CA205417 rs_797045674

1 SubmittersRCV006270229
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) SNV
Germline		 ChrX:153866802 Pathogenic Condition: not provided
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome
L1 syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA207441 rs_797045673

5 SubmittersRCV000494147RCV000714717RCV000714718RCV002509289
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) SNV
Germline		 ChrX:153866700 Pathogenic/Likely pathogenic X-linked hydrocephalus syndrome
L1 syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10576254 rs_875989884

2 SubmittersRCV000211546RCV002229193
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) SNV
Germline		 ChrX:153868654 Pathogenic Condition: not provided
X-linked hydrocephalus syndrome
Spastic paraplegia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588749 rs_886039407

3 SubmittersRCV000255535RCV001391257RCV001855005
NM_001278116.2(L1CAM):c.807-6G>A SNV
Germline		 ChrX:153870246 Pathogenic/Likely pathogenic Condition: not provided
Spastic paraplegia
L1 syndrome
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588751 rs_886039405

6 SubmittersRCV000255025RCV000470870RCV001582904RCV004796137RCV005603617
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) SNV
Germline		 ChrX:153868390 Likely pathogenic X-linked hydrocephalus syndrome No Assertion Criteria Provided
 CA10602720 rs_886041102

1 SubmittersRCV000258946
NM_001278116.2(L1CAM):c.2433C>A (p.Tyr811Ter) SNV
Germline		 ChrX:153865818 Pathogenic/Likely pathogenic Condition: not provided
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608745 rs_782553641

2 SubmittersRCV000441590RCV005896269
NM_001278116.2(L1CAM):c.1939+1G>A SNV
Germline		 ChrX:153867799 Pathogenic Condition: not provided
X-linked hydrocephalus syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621231 rs_1064793801

2 SubmittersRCV000485549RCV005603628
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) SNV
Germline		 ChrX:153868699 Pathogenic Condition: not provided
X-linked hydrocephalus syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621234 rs_1064793163

2 SubmittersRCV000487331RCV001262258
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) SNV
Germline		 ChrX:153870490 Conflicting classifications of pathogenicity Condition: not provided
X-linked hydrocephalus syndrome		 Criteria Provided
Conflicting Classifications
 CA415133522 rs_1557092782

2 SubmittersRCV000497542RCV000678319
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter) SNV
Germline		 ChrX:153864698 Pathogenic Spastic paraplegia
X-linked hydrocephalus syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415113518 rs_1557090161

2 SubmittersRCV003750800RCV006270232
NM_001278116.2(L1CAM):c.3774G>C (p.Ter1258Tyr) SNV
Germline		 ChrX:153862663 Conflicting classifications of pathogenicity Condition: not provided
MASA syndrome
X-linked hydrocephalus syndrome
X-linked complicated corpus callosum dysgenesis		 Criteria Provided
Conflicting Classifications
 CA415105568 rs_782235888

2 SubmittersRCV000519922RCV006605281
NM_001278116.2(L1CAM):c.1267+1G>A SNV
Germline		 ChrX:153869519 Pathogenic/Likely pathogenic Condition: not provided
Spastic paraplegia
L1 syndrome
X-linked hydrocephalus syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415128986 rs_1557092247

4 SubmittersRCV000522273RCV001221488RCV001260406RCV006454685
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) SNV
Germline		 ChrX:153868674 Conflicting classifications of pathogenicity Spastic paraplegia
Condition: not provided
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome		 Criteria Provided
Conflicting Classifications
 CA415126175 rs_1298830102

3 SubmittersRCV000704149RCV003489834RCV005392314
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) SNV
Germline		 ChrX:153869567 Conflicting classifications of pathogenicity Inborn genetic diseases
Spastic paraplegia
Condition: not provided
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome		 Criteria Provided
Conflicting Classifications
 CA337263142 rs_139197516

4 SubmittersRCV002318090RCV003588671RCV004997251RCV005357965
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) SNV
Germline		 ChrX:153870880 Conflicting classifications of pathogenicity MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome
Condition: not provided
Spastic paraplegia
MASA syndrome
L1CAM-related disorder		 Criteria Provided
Conflicting Classifications
 CA415135433 rs_1603276146

5 SubmittersRCV000850499RCV002225750RCV005092512RCV005253653RCV005863298
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) SNV
Unknown		 ChrX:153875834 Likely pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 CA415143345 rs_1603277433

1 SubmittersRCV000990984
NM_001278116.2(L1CAM):c.1268-1G>A SNV
Germline		 ChrX:153868953 Pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 CA415128786 rs_1603275538

1 SubmittersRCV001027729
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) SNV
Germline		 ChrX:153870122 Pathogenic/Likely pathogenic Spastic paraplegia
Condition: not provided
Inborn genetic diseases
X-linked complicated corpus callosum dysgenesis
L1 syndrome
X-linked hydrocephalus syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10554471 rs_367665974

7 SubmittersRCV001040041RCV001545171RCV001266763RCV001809962RCV002239304RCV004594241
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) SNV
Germline		 ChrX:153870451 Conflicting classifications of pathogenicity X-linked hydrocephalus syndrome
Spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA10554513 rs_782163019

2 SubmittersRCV001254092RCV003588728
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) SNV
Germline		 ChrX:153872167 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Spastic paraplegia
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome
MASA syndrome		 Criteria Provided
Conflicting Classifications
 CA10554609 rs_201978087

4 SubmittersRCV001532221RCV002359156RCV003120621RCV002495862
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) SNV
Germline		 ChrX:153864633 Conflicting classifications of pathogenicity Condition: not provided
X-linked hydrocephalus syndrome
X-linked complicated corpus callosum dysgenesis
MASA syndrome
Spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA415111864 rs_1557090130

3 SubmittersRCV001764761RCV002488524RCV003750871
NM_001278116.2(L1CAM):c.3046+1G>A SNV
Germline		 ChrX:153864820 Pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 CA415113616 rs_1557090220

1 SubmittersRCV001848629
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter) SNV
Germline		 ChrX:153866784 Pathogenic X-linked hydrocephalus syndrome No Assertion Criteria Provided
 CA415120441 rs_2520985267

1 SubmittersRCV002291800
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys) SNV
Germline		 ChrX:153866704 Likely pathogenic X-linked hydrocephalus syndrome No Assertion Criteria Provided
 CA415120011 rs_2520984340

1 SubmittersRCV002291802
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) SNV
Germline		 ChrX:153866681 Likely pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 CA415118292 rs_2148495027

1 SubmittersRCV002274447
NM_001278116.2(L1CAM):c.1703+5G>A SNV
Germline		 ChrX:153868297 Pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 CA2573050744 rs_2520999577

1 SubmittersRCV002471556
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro) SNV
Germline		 ChrX:153865736 Conflicting classifications of pathogenicity Spastic paraplegia
X-linked hydrocephalus syndrome
X-linked complicated corpus callosum dysgenesis
MASA syndrome		 Criteria Provided
Conflicting Classifications
 CA10554161 rs_782149002

2 SubmittersRCV002576330RCV005398934
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu) SNV
Germline		 ChrX:153870155 Conflicting classifications of pathogenicity L1CAM-related disorder
Spastic paraplegia
Inborn genetic diseases
X-linked complicated corpus callosum dysgenesis
MASA syndrome
X-linked hydrocephalus syndrome		 Criteria Provided
Conflicting Classifications
 CA337263385 rs_202074293

4 SubmittersRCV003392871RCV003588907RCV004362870RCV005399373
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter) SNV
Germline		 ChrX:153864411 Likely pathogenic X-linked hydrocephalus syndrome
MASA syndrome		 Criteria Provided
Single Submitter
 CA415110958 rs_2520965527

1 SubmittersRCV003986040
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp) SNV
Germline		 ChrX:153869556 Likely pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 CA415129324 rs_1262433336

1 SubmittersRCV003989032
NM_001278116.2(L1CAM):c.2220G>A (p.Trp740Ter) SNV
Unknown		 ChrX:153866860 Likely pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 rs_2520986268

1 SubmittersRCV004577312
NM_001278116.2(L1CAM):c.605A>G (p.Asp202Gly) SNV
Germline		 ChrX:153870879 Pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter
 rs_2521024037

1 SubmittersRCV004594862
NM_001278116.2(L1CAM):c.3047-2A>T SNV
Germline		 ChrX:153864706 Likely pathogenic X-linked hydrocephalus syndrome
MASA syndrome
X-linked complicated corpus callosum dysgenesis		 Criteria Provided
Single Submitter

1 SubmittersRCV005049801
NM_001278116.2(L1CAM):c.1380-1G>A SNV
Germline		 ChrX:153868728 Pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005402291
NM_001278116.2(L1CAM):c.3458-2A>G SNV
Germline		 ChrX:153863551 Pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005865028
NM_001278116.2(L1CAM):c.458C>G (p.Ser153Ter) SNV
Germline		 ChrX:153871122 Pathogenic X-linked hydrocephalus syndrome
X-linked complicated corpus callosum dysgenesis
MASA syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV006257491
NM_001278116.2(L1CAM):c.400+5G>T SNV
Germline		 ChrX:153872147 Likely pathogenic X-linked hydrocephalus syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006553769