List of variants in gene L1CAM reported as likely pathogenic for X-linked hydrocephalus syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)	rs1262433336
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs)	rs2064782292
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)	rs2521001058
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly)	rs886041102
NM_001278116.2(L1CAM):c.2220G>A (p.Trp740Ter)	rs2520986268
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)	rs2520984340
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His)	rs2148495027
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)	rs2520975915
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)	rs137852522
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)	rs1603277433
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)	rs782163019

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