List of variants in gene MLC1 reported as pathogenic for brain disorder

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: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)	rs1057517090	0.00003
NM_015166.4(MLC1):c.895-2A>G	rs1183818307	0.00003
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.177+1G>T	rs1374593138	0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	rs281875316	0.00001
NM_015166.4(MLC1):c.423+1G>A	rs752428321	0.00001
NM_015166.4(MLC1):c.525+1G>A	rs769135961	0.00001
NM_015166.4(MLC1):c.714+1G>A	rs761620701	0.00001
NM_015166.4(MLC1):c.135dup (p.Cys46fs)	rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.324del (p.Asn110fs)	rs786204747
NM_015166.4(MLC1):c.337_353delinsG (p.Ile113fs)	rs2062079566
NM_015166.4(MLC1):c.368C>T (p.Thr123Ile)	rs769089143
NM_015166.4(MLC1):c.422A>G (p.Asn141Ser)	rs121908344
NM_015166.4(MLC1):c.423C>A (p.Asn141Lys)	rs121908343
NM_015166.4(MLC1):c.448del (p.Leu150fs)	rs1555967227
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_015166.4(MLC1):c.597+1G>A
NM_015166.4(MLC1):c.617G>T (p.Gly206Val)	rs1114167286
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	rs281875317
NM_015166.4(MLC1):c.701G>A (p.Trp234Ter)	rs781004589
NM_015166.4(MLC1):c.736del (p.Ser246fs)	rs2146830385
NM_015166.4(MLC1):c.772-1G>C
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)	rs121908341
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787
NM_015166.4(MLC1):c.908_914del (p.Val303fs)	rs2146773018
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)	rs2146772952

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.