ClinVar for MedGen (Select 895496) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433741	NM_032793.5(MFSD2A):c.446T>C (p.Leu149Pro)	MFSD2A (L112P +4 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly 15, primary, autosomal recessive	GUncertain significance
Select item 1806237	NM_032793.5(MFSD2A):c.1394G>A (p.Arg465His)	MFSD2A (R309H +6 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 15, primary, autosomal recessive	GUncertain significance
Select item 1806235	NM_032793.5(MFSD2A):c.228+8G>A	MFSD2A	Single nucleotide variant (intron variant)	Microcephaly 15, primary, autosomal recessive	GUncertain significance
Select item 1700578	NM_032793.5(MFSD2A):c.556+1G>A	MFSD2A	Single nucleotide variant (splice donor variant)	Microcephaly 15, primary, autosomal recessive	GPathogenic
Select item 1700577	NM_032793.5(MFSD2A):c.750_753del (p.Cys251fs)	MFSD2A (C136fs +5 more)	Deletion (frameshift variant +1 more)	Microcephaly 15, primary, autosomal recessive	GPathogenic
Select item 1700576	NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs)	MFSD2A (Q306fs +6 more)	Deletion (frameshift variant +1 more)	Microcephaly 15, primary, autosomal recessive	GPathogenic
Select item 1598360	NM_032793.5(MFSD2A):c.93+16C>A	MFSD2A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1339121	NM_032793.5(MFSD2A):c.874G>A (p.Gly292Ser)	MFSD2A (G136S +5 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 15, primary, autosomal recessive	GUncertain significance
Select item 1029145	NM_032793.5(MFSD2A):c.379G>C (p.Val127Leu)	MFSD2A (V140L +4 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly 15, primary, autosomal recessive	GUncertain significance
Select item 522579	NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His)	MFSD2A (P402H +6 more)	Single nucleotide variant (missense variant)	Microcephaly 15, primary, autosomal recessive	GPathogenic/Likely pathogenic
Select item 417866	NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile)	MFSD2A (V234I +5 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 15, primary, autosomal recessive	GUncertain significance
Select item 372262	NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu)	MFSD2A (S339L +5 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 15, primary, autosomal recessive	GPathogenic
Select item 372261	NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu)	MFSD2A (S166L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 372260	NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met)	MFSD2A (T159M +5 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 15, primary, autosomal recessive	GPathogenic