25897[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 1223952	NC_000001.11:g.39955047C>A	LOC129930239, MFSD2A	Single nucleotide variant	not provided	GBenign
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 2170357	NM_032793.5(MFSD2A):c.36G>T (p.Ala12=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 726965	NM_032793.5(MFSD2A):c.39G>A (p.Ala13=)	MFSD2A	Single nucleotide variant (synonymous variant +2 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 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 721709	NM_032793.5(MFSD2A):c.78C>A (p.Arg26=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 743751	NM_032793.5(MFSD2A):c.81G>A (p.Pro27=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	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 1598360	NM_032793.5(MFSD2A):c.93+16C>A	MFSD2A	Single nucleotide variant (intron variant)	Microcephaly 15, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 1968713	NM_032793.5(MFSD2A):c.94-20T>C	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1405672	NM_032793.5(MFSD2A):c.101C>T (p.Pro34Leu)	MFSD2A (P32L +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1390707	NM_032793.5(MFSD2A):c.122T>G (p.Leu41Trp)	MFSD2A (L39W +1 more)	Single nucleotide variant (missense variant +3 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 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 773144	NM_032793.5(MFSD2A):c.177G>A (p.Thr59=)	MFSD2A	Single nucleotide variant (synonymous variant +3 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 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 742023	NM_032793.5(MFSD2A):c.207C>T (p.Ile69=)	MFSD2A	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 2977430	NM_032793.5(MFSD2A):c.228+19C>T	MFSD2A	Single nucleotide variant (intron variant)	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 744612	NM_032793.5(MFSD2A):c.229-46C>T	MFSD2A	Single nucleotide variant (intron variant)	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 684729	NM_032793.5(MFSD2A):c.229-25_229-23del	MFSD2A (V82del)	Deletion (inframe_deletion +1 more)	Microcephaly +7 more	GPathogenic
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 1305516	NM_032793.5(MFSD2A):c.257T>A (p.Leu86Gln)	MFSD2A (L49Q +3 more)	Single nucleotide variant (missense variant +3 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 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 1965589	NM_032793.5(MFSD2A):c.294C>T (p.Pro98=)	MFSD2A	Single nucleotide variant (synonymous variant +3 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 2766977	NM_032793.5(MFSD2A):c.353+14G>A	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421284	NM_032793.5(MFSD2A):c.354-10T>C	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238765	NM_032793.5(MFSD2A):c.378C>T (p.Ala126=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 2006946	NM_032793.5(MFSD2A):c.396C>T (p.Leu132=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	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 1989654	NM_032793.5(MFSD2A):c.411C>T (p.Pro137=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	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 1986652	NM_032793.5(MFSD2A):c.423C>T (p.His141=)	MFSD2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1715018	NM_032793.5(MFSD2A):c.427C>G (p.Gln143Glu)	MFSD2A (Q106E +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 435861	NM_032793.5(MFSD2A):c.434A>G (p.Tyr145Cys)	MFSD2A (Y158C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	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 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 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 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
Select item 1905783	NM_032793.5(MFSD2A):c.477+11G>A	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 1638314	NM_032793.5(MFSD2A):c.477+17C>T	MFSD2A	Single nucleotide variant (intron variant)	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 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 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 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 1716900	NM_032793.5(MFSD2A):c.521C>T (p.Thr174Ile)	MFSD2A (T137I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 740801	NM_032793.5(MFSD2A):c.549C>A (p.Thr183=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely 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 1700578	NM_032793.5(MFSD2A):c.556+1G>A	MFSD2A	Single nucleotide variant (splice donor variant)	Microcephaly 15, primary, autosomal recessive	GPathogenic
Select item 1922806	NM_032793.5(MFSD2A):c.556+7C>G	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 1271240	NM_032793.5(MFSD2A):c.556+41C>A	MFSD2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2816879	NM_032793.5(MFSD2A):c.557-19C>A	MFSD2A	Single nucleotide variant (intron variant)	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 1915079	NM_032793.5(MFSD2A):c.557-19C>T	MFSD2A	Single nucleotide variant (intron variant)	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 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 1009046	NM_032793.5(MFSD2A):c.569A>C (p.Glu190Ala)	MFSD2A (E153A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 745934	NM_032793.5(MFSD2A):c.597G>A (p.Ala199=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 775535	NM_032793.5(MFSD2A):c.629C>T (p.Thr210Met)	MFSD2A (T208M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 713931	NM_032793.5(MFSD2A):c.630G>A (p.Thr210=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
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 1466690	NM_032793.5(MFSD2A):c.689A>G (p.His230Arg)	MFSD2A (H193R +5 more)	Single nucleotide variant (missense variant +1 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 1478966	NM_032793.5(MFSD2A):c.714G>A (p.Thr238=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1660144	NM_032793.5(MFSD2A):c.714+7C>A	MFSD2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599941	NM_032793.5(MFSD2A):c.714+20A>G	MFSD2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281803	NM_032793.5(MFSD2A):c.714+41A>G	MFSD2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1714855	NM_032793.5(MFSD2A):c.728T>A (p.Leu243Gln)	MFSD2A (L128Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 1376732	NM_032793.5(MFSD2A):c.763del (p.Ile255fs)	MFSD2A (I268fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 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 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 2876490	NM_032793.5(MFSD2A):c.805+2T>A	MFSD2A	Single nucleotide variant (splice donor 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 1665566	NM_032793.5(MFSD2A):c.806-15C>T	MFSD2A	Single nucleotide variant (intron variant)	not provided	GBenign
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 1930906	NM_032793.5(MFSD2A):c.825G>A (p.Gln275=)	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 2871106	NM_032793.5(MFSD2A):c.846C>T (p.Phe282=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 783285	NM_032793.5(MFSD2A):c.852C>T (p.Gly284=)	MFSD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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