ClinVar for MedGen (Select 75552) - ClinVar

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Items: 47

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24981331.	NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs) GRCh37: ChrX:153130948 GRCh38: ChrX:153865493	L1CAM	Y847fs, Y852fs	X-linked hydrocephalus syndrome	Likely pathogenic (Oct 22, 2020)	criteria provided, single submitter
Select item 18051382.	NM_001278116.2(L1CAM):c.1703+5G>A GRCh37: ChrX:153133752 GRCh38: ChrX:153868297	L1CAM		X-linked hydrocephalus syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 17001983.	NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) GRCh37: ChrX:153132136 GRCh38: ChrX:153866681	L1CAM	P795H, P800H	X-linked hydrocephalus syndrome	Likely pathogenic	criteria provided, single submitter
Select item 16990764.	NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) GRCh37: ChrX:153136356-153136357 GRCh38: ChrX:153870901-153870902	L1CAM		X-linked hydrocephalus syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 16767765.	NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys) GRCh37: ChrX:153132159 GRCh38: ChrX:153866704	L1CAM	N787K, N792K	X-linked hydrocephalus syndrome	Likely pathogenic (Mar 10, 2022)	no assertion criteria provided
Select item 16767756.	NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs) GRCh37: ChrX:153133894-153133895 GRCh38: ChrX:153868439-153868440	L1CAM	Q517fs, Q522fs	X-linked hydrocephalus syndrome	Likely pathogenic (Mar 10, 2022)	no assertion criteria provided
Select item 16767747.	NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter) GRCh37: ChrX:153132239 GRCh38: ChrX:153866784	L1CAM	Q761, Q766	X-linked hydrocephalus syndrome	Pathogenic (Mar 10, 2022)	no assertion criteria provided
Select item 13445398.	NM_001278116.2(L1CAM):c.3046+1G>A GRCh37: ChrX:153130275 GRCh38: ChrX:153864820	L1CAM		X-linked hydrocephalus syndrome	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 13106659.	NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) GRCh37: ChrX:153131189-153131190 GRCh38: ChrX:153865734-153865735	L1CAM	A834D, A839D	MASA syndrome, X-linked complicated corpus callosum dysgenesis, X-linked hydrocephalus syndrome, not provided	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130364510.	NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) GRCh37: ChrX:153130088 GRCh38: ChrX:153864633	L1CAM	E1035K, E1040K	MASA syndrome, X-linked complicated corpus callosum dysgenesis, X-linked hydrocephalus syndrome, not provided	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129746511.	NM_006086.4(TUBB3):c.33G>C (p.Gln11His) GRCh37: Chr16:89989842 GRCh38: Chr16:89923434	TUBB3	Q11H	X-linked hydrocephalus syndrome	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 129746312.	NM_001940.4(ATN1):c.2425C>G (p.Gln809Glu) GRCh37: Chr12:7047138 GRCh38: Chr12:6937975	ATN1	Q809E	X-linked hydrocephalus syndrome	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 117660913.	NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) GRCh37: ChrX:153137622 GRCh38: ChrX:153872167	L1CAM	R124W, R129W	Spastic paraplegia, Inborn genetic diseases, MASA syndrome, X-linked complicated corpus callosum dysgenesis, X-linked hydrocephalus syndrome, not provided	Conflicting interpretations of pathogenicity (Apr 18, 2022)	criteria provided, conflicting interpretations
Select item 98872914.	NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg) GRCh37: ChrX:153128303 GRCh38: ChrX:153862848	L1CAM	G1188R, G1193R, G1197R	Spastic paraplegia	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 98202615.	NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) GRCh37: ChrX:153138104-153138105 GRCh38: ChrX:153872649-153872650	L1CAM	V42fs, V47fs	X-linked hydrocephalus syndrome	Likely pathogenic	criteria provided, single submitter
Select item 97671016.	NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) GRCh37: ChrX:153135906 GRCh38: ChrX:153870451	L1CAM	S243Y, S248Y	X-linked hydrocephalus syndrome	Likely pathogenic (Jul 30, 2018)	criteria provided, single submitter
Select item 82784417.	NM_001278116.2(L1CAM):c.1268-1G>A GRCh37: ChrX:153134408 GRCh38: ChrX:153868953	L1CAM		X-linked hydrocephalus syndrome	Pathogenic (Dec 6, 2019)	criteria provided, single submitter
Select item 80411718.	NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG GRCh37: ChrX:153151423-153151424 GRCh38: ChrX:153885969-153885970	L1CAM, L1CAM-AS1		X-linked hydrocephalus syndrome	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 80411619.	NM_001278116.2(L1CAM):c.-109+234del GRCh37: ChrX:153151285 GRCh38: ChrX:153885831	L1CAM, L1CAM-AS1		X-linked hydrocephalus syndrome	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80411520.	NM_001278116.2(L1CAM):c.-109+238_-109+239insGG GRCh37: ChrX:153151280-153151281 GRCh38: ChrX:153885826-153885827	L1CAM, L1CAM-AS1		X-linked hydrocephalus syndrome	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80411421.	NM_001278116.2(L1CAM):c.-109+1811dup GRCh38: ChrX:153884253-153884254	L1CAM, L1CAM-AS1		X-linked hydrocephalus syndrome	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80411322.	NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) GRCh37: ChrX:153141289 GRCh38: ChrX:153875834	L1CAM	M1I	X-linked hydrocephalus syndrome	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80411223.	NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) GRCh37: ChrX:153131265-153131266 GRCh38: ChrX:153865810-153865811	L1CAM	A809fs, A814fs	X-linked hydrocephalus syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 68972824.	NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) GRCh37: ChrX:153136335 GRCh38: ChrX:153870880	L1CAM	D202N, D197N	not provided, X-linked complicated corpus callosum dysgenesis, X-linked hydrocephalus syndrome, MASA syndrome	Pathogenic/Likely pathogenic (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58941925.	NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) GRCh37: ChrX:153136290 GRCh38: ChrX:153870835	L1CAM		not provided, X-linked complicated corpus callosum dysgenesis, Inborn genetic diseases, X-linked hydrocephalus syndrome, MASA syndrome, Spastic paraplegia	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56201026.	NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) GRCh37: ChrX:153133890 GRCh38: ChrX:153868435	L1CAM	P524S, P519S	X-linked hydrocephalus syndrome	Uncertain significance (Nov 17, 2016)	no assertion criteria provided
Select item 45821027.	NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) GRCh37: ChrX:153138131 GRCh38: ChrX:153872676	L1CAM	T38M, T33M	X-linked complicated corpus callosum dysgenesis, MASA syndrome, X-linked hydrocephalus syndrome, not provided, Spastic paraplegia, not specified, Inborn genetic diseases	Benign/Likely benign (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43202328.	NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) GRCh37: ChrX:153135945 GRCh38: ChrX:153870490	L1CAM	M235T, M230T	X-linked hydrocephalus syndrome, not provided	Conflicting interpretations of pathogenicity (Mar 12, 2021)	criteria provided, conflicting interpretations
Select item 41827829.	NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) GRCh37: ChrX:153134154 GRCh38: ChrX:153868699	L1CAM	Q470, Q465	X-linked hydrocephalus syndrome, not provided	Pathogenic (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 27960130.	NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) GRCh37: ChrX:153133845 GRCh38: ChrX:153868390	L1CAM	C539G, C534G	X-linked hydrocephalus syndrome	Likely pathogenic (Apr 1, 2016)	no assertion criteria provided
Select item 26522331.	NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) GRCh37: ChrX:153134109 GRCh38: ChrX:153868654	L1CAM	R485, R480	not provided, Spastic paraplegia, X-linked hydrocephalus syndrome	Pathogenic (Aug 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22612032.	NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) GRCh37: ChrX:153132155 GRCh38: ChrX:153866700	L1CAM	Q794, Q789	L1 syndrome, X-linked hydrocephalus syndrome	Pathogenic/Likely pathogenic (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21133933.	NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) GRCh37: ChrX:153132257 GRCh38: ChrX:153866802	L1CAM	R760, R755	Hydrocephalus due to aqueductal stenosis, L1 syndrome, not provided, X-linked hydrocephalus syndrome, X-linked complicated corpus callosum dysgenesis	Pathogenic (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19872834.	NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) GRCh37: ChrX:153135578 GRCh38: ChrX:153870123	L1CAM		not provided	Likely pathogenic (Aug 13, 2020)	criteria provided, multiple submitters, no conflicts
Select item 19546035.	NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) GRCh37: ChrX:153130846 GRCh38: ChrX:153865391	L1CAM	R886Q, R881Q	Spastic paraplegia, X-linked hydrocephalus syndrome, MASA syndrome, X-linked complicated corpus callosum dysgenesis, not specified	Benign/Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2998636.	NM_001278116.2(L1CAM):c.3458-1G>C GRCh37: ChrX:153129005 GRCh38: ChrX:153863550	L1CAM		X-linked hydrocephalus syndrome	Pathogenic (Feb 1, 2011)	no assertion criteria provided
Select item 1000137.	NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) GRCh37: ChrX:153135930 GRCh38: ChrX:153870475	L1CAM	P240L, P235L	not provided, X-linked hydrocephalus syndrome, X-linked complicated corpus callosum dysgenesis	Pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 999938.	NM_001278116.2(L1CAM):c.1939+5G>A GRCh37: ChrX:153133250 GRCh38: ChrX:153867795	L1CAM		Spastic paraplegia	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 999839.	NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) GRCh37: ChrX:153132281 GRCh38: ChrX:153866826	L1CAM	V752M, V747M	not provided	Pathogenic (Dec 6, 2021)	criteria provided, single submitter
Select item 999640.	NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) GRCh37: ChrX:153132113-153132114 GRCh38: ChrX:153866658-153866659	L1CAM	G803fs, G808fs	X-linked hydrocephalus syndrome	Pathogenic (Aug 1, 1997)	no assertion criteria provided
Select item 999541.	NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) GRCh37: ChrX:153135273 GRCh38: ChrX:153869818	L1CAM	G370R, G365R	Spastic paraplegia, not provided, X-linked hydrocephalus syndrome	Pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 999342.	NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) GRCh37: ChrX:153128311 GRCh38: ChrX:153862856	L1CAM	S1194L, S1185L, S1190L	Severe hydrocephalus, Hydrops fetalis, Inborn genetic diseases, not provided, X-linked hydrocephalus syndrome	Pathogenic/Likely pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 999143.	NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) GRCh37: ChrX:153136388 GRCh38: ChrX:153870933	L1CAM	R184Q, R179Q	Inborn genetic diseases, L1 syndrome	Pathogenic (Jan 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 999044.	NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) GRCh37: ChrX:153134321 GRCh38: ChrX:153868866	L1CAM	G452R, G447R	Hydrocephalus due to aqueductal stenosis, Spastic paraplegia, L1 syndrome, not provided	Pathogenic (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 998745.	L1CAM, 1.3-KB DUP	L1CAM		X-linked hydrocephalus syndrome	Pathogenic (Aug 1, 1993)	no assertion criteria provided
Select item 998646.	NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) GRCh37: ChrX:153135858 GRCh38: ChrX:153870403	L1CAM	C264Y, C259Y	X-linked hydrocephalus syndrome	Pathogenic (Aug 1, 1993)	no assertion criteria provided
Select item 998547.	NM_001278116.2(L1CAM):c.2432-19A>C GRCh37: ChrX:153131293 GRCh38: ChrX:153865838	L1CAM		X-linked hydrocephalus syndrome	Pathogenic (Oct 1, 1992)	no assertion criteria provided

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Items: 47