MFSD2A

MFSD2 lysolipid transporter A, lysophospholipid

Summary

The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]

Known Variants154 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs61781296	1:40,419,732	C/T	upstream gene variant	—
rs3738668	1:40,420,719	C/A	—	benign
rs748299994	1:40,420,977	G/A	—	uncertain significance
rs1219555623	1:40,421,000	G/T	—	likely benign
rs752299974	1:40,421,003	G/A	—	likely benign
rs1417197637	1:40,421,004	G/T	—	uncertain significance
rs201082115	1:40,421,041	G/T	—	uncertain significance
rs371239600	1:40,421,042	C/A	—	likely benign
rs1570228993	1:40,421,045	G/A	—	likely benign
rs780487121	1:40,421,060	G/C	—	uncertain significance
rs189000715	1:40,421,073	C/A	—	likely benign
rs768183599	1:40,422,739	T/C	—	likely benign
rs761444264	1:40,422,766	C/T	—	uncertain significance
rs2124755855	1:40,422,787	T/G	—	uncertain significance
rs199650634	1:40,422,794	T/C	—	likely benign
rs181094032	1:40,422,828	C/T	—	likely benign
rs114073258	1:40,422,842	G/A	—	likely benign
rs2522902067	1:40,422,855	G/T	—	uncertain significance
rs1201543520	1:40,422,870	A/C	—	uncertain significance
rs768640316	1:40,422,872	C/T	—	likely benign
rs374629919	1:40,422,901	G/A	—	conflicting classifications of pathogenicity
rs767894540	1:40,422,912	C/T	—	likely benign
rs750686551	1:40,424,317	A/G	—	likely benign
rs199882211	1:40,424,327	C/T	—	likely benign
rs1291078799	1:40,424,341	A/T	—	uncertain significance
rs2522910472	1:40,424,399	C/A	—	likely benign
rs2124758797	1:40,424,401	T/A	—	uncertain significance
rs960548034	1:40,424,411	C/T	—	likely benign
rs746291467	1:40,424,413	G/A	—	uncertain significance
rs544567794	1:40,424,438	C/T	—	likely benign
rs556985300	1:40,424,484	C/T	—	uncertain significance
rs1226066327	1:40,424,511	G/A	—	likely benign
rs200618277	1:40,430,873	T/C	—	likely benign
rs115805986	1:40,430,907	C/T	—	benign
rs144708707	1:40,430,908	G/C	—	uncertain significance
rs1645132027	1:40,430,925	C/T	—	likely benign
rs758171164	1:40,430,926	A/G	—	uncertain significance
rs749348699	1:40,430,940	C/T	—	likely benign
rs774463696	1:40,430,941	G/A	—	uncertain significance
rs374253201	1:40,430,952	C/T	—	likely benign
rs2522952662	1:40,430,956	C/G	—	uncertain significance
rs368599958	1:40,430,963	A/G	—	uncertain significance
rs919633570	1:40,430,969	A/T	—	uncertain significance
rs2522952776	1:40,430,975	T/C	—	uncertain significance
rs2522952803	1:40,430,985	C/A	—	pathogenic
rs1057517688	1:40,431,005	C/T	missense variant	pathogenic
rs539868707	1:40,431,017	G/A	—	likely benign
rs2522953031	1:40,431,021	C/G	—	uncertain significance
rs183077173	1:40,431,023	C/T	—	likely benign
rs372714865	1:40,431,151	T/C	—	likely benign
rs1057517689	1:40,431,162	C/T	missense variant	pathogenic
rs2522954068	1:40,431,165	C/T	—	uncertain significance
rs369221018	1:40,431,182	A/G	—	uncertain significance
rs1645139753	1:40,431,186	C/T	—	uncertain significance
rs765969982	1:40,431,187	C/T	—	likely benign
rs115821410	1:40,431,214	C/A	—	likely benign
rs779348306	1:40,431,217	C/T	—	likely benign
rs758953000	1:40,431,222	G/A	—	pathogenic
rs961104661	1:40,431,228	C/G	—	likely benign
rs993901548	1:40,431,235	G/C	—	likely benign
rs112608399	1:40,431,262	C/A	—	benign
rs1267800004	1:40,431,510	C/T	—	likely benign
rs897968848	1:40,431,519	C/T	—	likely benign
rs1451581366	1:40,431,531	A/G	—	uncertain significance
rs1645149915	1:40,431,541	A/C	—	uncertain significance
rs6686999	1:40,431,569	G/A	—	likely benign
rs771576697	1:40,431,592	A/G	—	uncertain significance
rs115104693	1:40,431,601	C/T	—	benign
rs142303528	1:40,431,602	G/A	—	likely benign
rs1060499570	1:40,431,633	G/A	—	uncertain significance
rs535835616	1:40,431,661	A/G	—	uncertain significance
rs199920612	1:40,431,685	C/T	—	conflicting classifications of pathogenicity
rs745791004	1:40,431,686	G/A	—	uncertain significance
rs187731428	1:40,431,693	C/A	—	likely benign
rs201754901	1:40,431,706	A/G	—	benign
rs6676052	1:40,431,727	A/G	—	benign
rs2522962839	1:40,432,286	T/A	—	uncertain significance
rs769403571	1:40,432,288	C/T	—	likely benign
rs200412476	1:40,432,307	T/C	—	likely benign
rs762090384	1:40,432,316	A/G	—	uncertain significance
rs1248828645	1:40,432,326	T/C	—	likely benign
rs146512748	1:40,432,348	G/A	—	uncertain significance
rs751477861	1:40,432,351	C/T	—	uncertain significance
rs2522963760	1:40,432,365	T/A	—	uncertain significance
rs755738727	1:40,432,372	G/T	—	likely benign
rs149937233	1:40,432,468	C/T	—	benign
rs867743059	1:40,432,489	A/G	—	uncertain significance
rs1369675551	1:40,432,502	G/A	—	likely benign
rs1162518510	1:40,432,504	C/G	—	uncertain significance
rs1336309599	1:40,432,523	C/T	—	likely benign
rs11207207	1:40,432,529	C/T	—	benign
rs759353606	1:40,432,534	G/A	—	uncertain significance
rs2124778290	1:40,432,536	C/A	—	uncertain significance
rs201251882	1:40,432,550	C/T	—	likely benign
rs201045061	1:40,432,551	G/A	—	uncertain significance
rs755423160	1:40,432,570	T/C	—	uncertain significance
rs2522965400	1:40,432,586	C/T	—	likely benign
rs2522965422	1:40,432,589	C/T	—	likely benign
rs147123833	1:40,432,772	C/T	—	conflicting classifications of pathogenicity
rs1006810643	1:40,432,778	C/A	—	likely benign

Showing 100 of 154 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.