ClinVar for Gene (Select 84879) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361106	NM_032793.5(MFSD2A):c.278A>G (p.Asp93Gly)	MFSD2A (D106G +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3294545	NM_032793.5(MFSD2A):c.1358C>T (p.Ala453Val)	MFSD2A (A425V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3254815	NM_032793.5(MFSD2A):c.1414A>C (p.Met472Leu)	MFSD2A (M316L +6 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 15, primary, autosomal recessive	GUncertain significance
Select item 3125779	NM_032793.5(MFSD2A):c.893T>C (p.Ile298Thr)	MFSD2A (I259T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125778	NM_032793.5(MFSD2A):c.1400A>G (p.Lys467Arg)	MFSD2A (K352R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125777	NM_032793.5(MFSD2A):c.13G>A (p.Glu5Lys)	MFSD2A (E5K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3125776	NM_032793.5(MFSD2A):c.1234G>A (p.Asp412Asn)	MFSD2A (D410N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125775	NM_032793.5(MFSD2A):c.1058G>A (p.Arg353Gln)	MFSD2A (R197Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125774	NM_032793.5(MFSD2A):c.1031T>C (p.Ile344Thr)	MFSD2A (I188T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030048	NM_032793.5(MFSD2A):c.1096-8T>C	MFSD2A	Single nucleotide variant (intron variant)	MFSD2A-related disorder	GLikely benign
Select item 3022369	NM_032793.5(MFSD2A):c.552C>T (p.Ala184=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020071	NM_032793.5(MFSD2A):c.486T>C (p.His162=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989506	NM_032793.5(MFSD2A):c.768T>C (p.Cys256=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987673	NM_032793.5(MFSD2A):c.229-56A>G	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986659	NM_032793.5(MFSD2A):c.255C>A (p.Ile85=)	MFSD2A	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2981945	NM_032793.5(MFSD2A):c.730C>T (p.Leu244=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977430	NM_032793.5(MFSD2A):c.228+19C>T	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976726	NM_032793.5(MFSD2A):c.909C>T (p.Phe303=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971746	NM_032793.5(MFSD2A):c.190G>T (p.Gly64Cys)	MFSD2A (G62C +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2963710	NM_032793.5(MFSD2A):c.1096-13C>T	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918783	NM_032793.5(MFSD2A):c.957C>T (p.Cys319=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2883958	NM_032793.5(MFSD2A):c.793C>T (p.Arg265Trp)	MFSD2A (R265W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880789	NM_032793.5(MFSD2A):c.267C>T (p.Gly89=)	MFSD2A	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2876490	NM_032793.5(MFSD2A):c.805+2T>A	MFSD2A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2871106	NM_032793.5(MFSD2A):c.846C>T (p.Phe282=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2866259	NM_032793.5(MFSD2A):c.749T>C (p.Val250Ala)	MFSD2A (V248A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2836540	NM_032793.5(MFSD2A):c.1575G>A (p.Glu525=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816879	NM_032793.5(MFSD2A):c.557-19C>A	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766977	NM_032793.5(MFSD2A):c.353+14G>A	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638720	NM_032793.5(MFSD2A):c.1449G>T (p.Leu483=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638719	NM_032793.5(MFSD2A):c.1157C>T (p.Ala386Val)	MFSD2A (A230V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2555823	NM_032793.5(MFSD2A):c.857G>A (p.Arg286Gln)	MFSD2A (R171Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525038	NM_032793.5(MFSD2A):c.790G>A (p.Val264Met)	MFSD2A (V262M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480451	NM_032793.5(MFSD2A):c.859C>A (p.Leu287Met)	MFSD2A (L300M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470477	NM_032793.5(MFSD2A):c.517A>G (p.Ser173Gly)	MFSD2A (S136G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2421284	NM_032793.5(MFSD2A):c.354-10T>C	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419413	NM_032793.5(MFSD2A):c.412G>A (p.Asp138Asn)	MFSD2A (D101N +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2417971	NM_032793.5(MFSD2A):c.1393C>A (p.Arg465Ser)	MFSD2A (R309S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2416794	NM_032793.5(MFSD2A):c.758A>G (p.Tyr253Cys)	MFSD2A (Y138C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2303117	NM_032793.5(MFSD2A):c.440A>T (p.Tyr147Phe)	MFSD2A (Y160F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2293101	NM_032793.5(MFSD2A):c.1114A>C (p.Ile372Leu)	MFSD2A (I333L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265225	NM_032793.5(MFSD2A):c.456C>A (p.Cys152Ter)	MFSD2A (C115* +4 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GPathogenic
Select item 2241768	NM_032793.5(MFSD2A):c.500C>T (p.Ala167Val)	MFSD2A (A11V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231595	NM_032793.5(MFSD2A):c.1357G>T (p.Ala453Ser)	MFSD2A (A297S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2196214	NM_032793.5(MFSD2A):c.1057C>A (p.Arg353=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2191326	NM_032793.5(MFSD2A):c.812A>G (p.Tyr271Cys)	MFSD2A (Y284C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2189052	NM_032793.5(MFSD2A):c.1410G>A (p.Leu470=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172956	NM_032793.5(MFSD2A):c.340C>T (p.Arg114Cys)	MFSD2A (R127C +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2171511	NM_032793.5(MFSD2A):c.163C>T (p.Pro55Ser)	MFSD2A (P55S +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2170357	NM_032793.5(MFSD2A):c.36G>T (p.Ala12=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2170251	NM_032793.5(MFSD2A):c.1149T>C (p.Ile383=)	MFSD2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168852	NM_032793.5(MFSD2A):c.522C>T (p.Thr174=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2163182	NM_032793.5(MFSD2A):c.827C>G (p.Ser276Cys)	MFSD2A (S276C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2159288	NM_032793.5(MFSD2A):c.129T>C (p.Val43=)	MFSD2A	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2128979	NM_032793.5(MFSD2A):c.40G>T (p.Gly14Trp)	MFSD2A (G14W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2126538	NM_032793.5(MFSD2A):c.54del (p.Ser19fs)	MFSD2A (S19fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2122645	NM_032793.5(MFSD2A):c.1009A>T (p.Met337Leu)	MFSD2A (M181L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101828	NM_032793.5(MFSD2A):c.948C>A (p.Val316=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2094895	NM_032793.5(MFSD2A):c.912C>T (p.Thr304=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2083603	NM_032793.5(MFSD2A):c.557-16_557-14del	MFSD2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2070298	NM_032793.5(MFSD2A):c.1529+3G>A	MFSD2A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2066207	NM_032793.5(MFSD2A):c.77G>T (p.Arg26Leu)	MFSD2A (R26L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2059584	NM_032793.5(MFSD2A):c.1373G>A (p.Arg458His)	MFSD2A (R302H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055087	NM_032793.5(MFSD2A):c.269G>A (p.Arg90Gln)	MFSD2A (R103Q +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2044767	NM_032793.5(MFSD2A):c.713C>T (p.Thr238Met)	MFSD2A (T238M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2016053	NM_032793.5(MFSD2A):c.1209-16T>C	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010321	NM_032793.5(MFSD2A):c.93+3G>C	MFSD2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2006981	NM_032793.5(MFSD2A):c.805+9G>T	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006946	NM_032793.5(MFSD2A):c.396C>T (p.Leu132=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1996885	NM_032793.5(MFSD2A):c.1043A>G (p.Gln348Arg)	MFSD2A (Q361R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1989654	NM_032793.5(MFSD2A):c.411C>T (p.Pro137=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1988800	NM_032793.5(MFSD2A):c.1383G>A (p.Ser461=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1986652	NM_032793.5(MFSD2A):c.423C>T (p.His141=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1982828	NM_032793.5(MFSD2A):c.1233C>T (p.Asp411=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1976957	NM_032793.5(MFSD2A):c.1404T>C (p.Phe468=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1973234	NM_032793.5(MFSD2A):c.1182T>C (p.Ser394=)	MFSD2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968943	NM_032793.5(MFSD2A):c.205A>C (p.Ile69Leu)	MFSD2A (I32L +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1968713	NM_032793.5(MFSD2A):c.94-20T>C	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967519	NM_032793.5(MFSD2A):c.1353-16C>A	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965589	NM_032793.5(MFSD2A):c.294C>T (p.Pro98=)	MFSD2A	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1964982	NM_032793.5(MFSD2A):c.229-32A>T	MFSD2A (E79V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1963496	NM_032793.5(MFSD2A):c.559A>G (p.Met187Val)	MFSD2A (M185V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1960787	NM_032793.5(MFSD2A):c.1208+20C>T	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959217	NM_032793.5(MFSD2A):c.1386G>A (p.Gln462=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937300	NM_032793.5(MFSD2A):c.1563A>G (p.Thr521=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1936889	NM_032793.5(MFSD2A):c.1051T>C (p.Leu351=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934338	NM_032793.5(MFSD2A):c.1353-14C>G	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930906	NM_032793.5(MFSD2A):c.825G>A (p.Gln275=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927664	NM_032793.5(MFSD2A):c.557-10C>T	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924855	NM_032793.5(MFSD2A):c.477+15C>G	MFSD2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1922806	NM_032793.5(MFSD2A):c.556+7C>G	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918712	NM_032793.5(MFSD2A):c.397A>G (p.Ile133Val)	MFSD2A (I131V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1915546	NM_032793.5(MFSD2A):c.620A>G (p.Gln207Arg)	MFSD2A (Q170R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915079	NM_032793.5(MFSD2A):c.557-19C>T	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912159	NM_032793.5(MFSD2A):c.1209-4G>A	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907452	NM_032793.5(MFSD2A):c.556+14G>C	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905783	NM_032793.5(MFSD2A):c.477+11G>A	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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