ClinVar for MedGen (Select 895496) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24337411.	NM_032793.5(MFSD2A):c.446T>C (p.Leu149Pro) GRCh37: Chr1:40430975 GRCh38: Chr1:39965303	MFSD2A	L112P, L147P, L149P, L162P, L34P	Microcephaly 15, primary, autosomal recessive	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 18062372.	NM_032793.5(MFSD2A):c.1394G>A (p.Arg465His) GRCh37: Chr1:40434282 GRCh38: Chr1:39968610	MFSD2A	R309H, R350H, R426H, R437H, R463H, R465H, R478H	Microcephaly 15, primary, autosomal recessive	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 18062353.	NM_032793.5(MFSD2A):c.228+8G>A GRCh37: Chr1:40422901 GRCh38: Chr1:39957229	MFSD2A		Microcephaly 15, primary, autosomal recessive	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 17005784.	NM_032793.5(MFSD2A):c.556+1G>A GRCh37: Chr1:40431222 GRCh38: Chr1:39965550	MFSD2A		Microcephaly 15, primary, autosomal recessive	Pathogenic (Aug 10, 2022)	no assertion criteria provided
Select item 17005775.	NM_032793.5(MFSD2A):c.750_753del (p.Cys251fs) GRCh37: Chr1:40432305-40432308 GRCh38: Chr1:39966633-39966636	MFSD2A	C136fs, C212fs, C249fs, C251fs, C264fs, C95fs	Microcephaly 15, primary, autosomal recessive	Pathogenic (Aug 11, 2022)	no assertion criteria provided
Select item 17005766.	NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs) GRCh37: Chr1:40434272-40434321 GRCh38: Chr1:39968600-39968649	MFSD2A	Q306fs, Q347fs, Q423fs, Q434fs, Q460fs, Q462fs, Q475fs	Microcephaly 15, primary, autosomal recessive	Pathogenic (Aug 9, 2022)	no assertion criteria provided
Select item 15983607.	NM_032793.5(MFSD2A):c.93+16C>A GRCh37: Chr1:40421073 GRCh38: Chr1:39955401	MFSD2A		Microcephaly 15, primary, autosomal recessive, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13391218.	NM_032793.5(MFSD2A):c.874G>A (p.Gly292Ser) GRCh37: Chr1:40432551 GRCh38: Chr1:39966879	MFSD2A	G136S, G177S, G253S, G290S, G292S, G305S	Microcephaly 15, primary, autosomal recessive	Uncertain significance	criteria provided, single submitter
Select item 10291459.	NM_032793.5(MFSD2A):c.379G>C (p.Val127Leu) GRCh37: Chr1:40430908 GRCh38: Chr1:39965236	MFSD2A	V140L, V90L, V127L, V12L, V125L	Microcephaly 15, primary, autosomal recessive	Uncertain significance (Jul 27, 2020)	criteria provided, single submitter
Select item 52257910.	NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) GRCh37: Chr1:40433585 GRCh38: Chr1:39967913	MFSD2A	P402H, P415H, P246H, P400H, P287H, P363H, P374H	Microcephaly 15, primary, autosomal recessive	Pathogenic/Likely pathogenic (Sep 11, 2020)	no assertion criteria provided
Select item 41786611.	NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile) GRCh37: Chr1:40431633 GRCh38: Chr1:39965961	MFSD2A	V234I, V221I, V184I, V65I, V106I, V219I	Microcephaly 15, primary, autosomal recessive	Uncertain significance (Dec 10, 2016)	no assertion criteria provided
Select item 37226212.	NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu) GRCh37: Chr1:40433304 GRCh38: Chr1:39967632	MFSD2A	S339L, S352L, S300L, S183L, S224L, S337L	Microcephaly 15, primary, autosomal recessive	Pathogenic (Aug 9, 2022)	no assertion criteria provided
Select item 37226113.	NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu) GRCh37: Chr1:40431162 GRCh38: Chr1:39965490	MFSD2A	S166L, S179L, S10L, S129L, S164L, S51L	not provided	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 37226014.	NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met) GRCh37: Chr1:40431005 GRCh38: Chr1:39965333	MFSD2A	T159M, T172M, T122M, T157M, T44M, T3M	Microcephaly 15, primary, autosomal recessive	Pathogenic (Sep 11, 2020)	no assertion criteria provided