Related gene-specific medical variations for Gene (Select 23098) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319891	NM_080669.6(SLC46A1):c.1294C>T (p.Leu432Phe)	SARM1, SLC46A1 (L432F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255576	NM_080669.6(SLC46A1):c.1173_1174del (p.Ser393fs)	SARM1, SLC46A1 (S365fs +1 more)	Microsatellite (frameshift variant +1 more)	Congenital defect of folate absorption	GLikely pathogenic
Select item 3254553	NM_080669.6(SLC46A1):c.1253del (p.Leu418fs)	SARM1, SLC46A1 (L390fs +1 more)	Deletion (frameshift variant +1 more)	Congenital defect of folate absorption	GPathogenic
Select item 3067702	NM_080669.6(SLC46A1):c.1205C>T (p.Ala402Val)	SARM1, SLC46A1 (A374V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3012205	NM_080669.6(SLC46A1):c.1320T>C (p.Ile440=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006417	NM_080669.6(SLC46A1):c.1082-15T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2998037	NM_080669.6(SLC46A1):c.1245A>G (p.Pro415=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981710	NM_080669.6(SLC46A1):c.1302C>T (p.Leu434=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821103	NM_080669.6(SLC46A1):c.1299G>A (p.Leu433=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2401032	NM_080669.6(SLC46A1):c.1187C>A (p.Ala396Asp)	SARM1, SLC46A1 (A396D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389459	NM_015077.4(SARM1):c.49G>C (p.Ala17Pro)	LOC130060546, SARM1 (A17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333717	NM_080669.6(SLC46A1):c.1274C>T (p.Pro425Leu)	SARM1, SLC46A1 (P397L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2186153	NM_080669.6(SLC46A1):c.1348C>T (p.Leu450Phe)	SARM1, SLC46A1 (L422F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175600	NM_080669.6(SLC46A1):c.1323-3C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2091015	NM_080669.6(SLC46A1):c.1165+10A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2080771	NM_080669.6(SLC46A1):c.1315C>G (p.Leu439Val)	SARM1, SLC46A1 (L411V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041867	NM_080669.6(SLC46A1):c.1345C>G (p.His449Asp)	SARM1, SLC46A1 (H421D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2015242	NM_080669.6(SLC46A1):c.1329G>A (p.Leu443=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2014557	NM_080669.6(SLC46A1):c.1104A>G (p.Ser368=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2007533	NM_080669.6(SLC46A1):c.1360C>G (p.Gln454Glu)	SARM1, SLC46A1 (Q454E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1983876	NM_080669.6(SLC46A1):c.1222G>A (p.Gly408Ser)	SARM1, SLC46A1 (G408S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982636	NM_080669.6(SLC46A1):c.1082-3C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1976306	NM_080669.6(SLC46A1):c.1322+5T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1965604	NM_080669.6(SLC46A1):c.1326G>C (p.Met442Ile)	SARM1, SLC46A1 (M414I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1961643	NM_080669.6(SLC46A1):c.1294C>A (p.Leu432Ile)	SLC46A1, SARM1 (L432I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937795	NM_080669.6(SLC46A1):c.1374C>A (p.Ser458Arg)	SARM1, SLC46A1 (S458R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1905067	NM_080669.6(SLC46A1):c.1323-11G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1804847	NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)	SLC46A1, SARM1 (K417fs +1 more)	Deletion (frameshift variant +1 more)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 1701314	NM_080669.6(SLC46A1):c.1322+2_1322+4delinsAT	SARM1, SLC46A1	Indel (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1659605	NM_080669.6(SLC46A1):c.1122C>T (p.Val374=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1640552	NM_080669.6(SLC46A1):c.1323-18C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1633265	NM_080669.6(SLC46A1):c.1166-17T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1625015	NM_080669.6(SLC46A1):c.1296C>T (p.Leu432=)	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1611042	NM_080669.6(SLC46A1):c.1281C>T (p.Leu427=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1578972	NM_080669.6(SLC46A1):c.1224C>A (p.Gly408=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1569104	NM_080669.6(SLC46A1):c.1208T>C (p.Met403Thr)	SARM1, SLC46A1 (M375T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1568497	NM_080669.6(SLC46A1):c.1221C>T (p.Ser407=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1562705	NM_080669.6(SLC46A1):c.1293C>T (p.Gly431=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1512989	NM_080669.6(SLC46A1):c.1144C>A (p.Leu382Met)	SARM1, SLC46A1 (L382M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1498690	NM_080669.6(SLC46A1):c.1169C>T (p.Ala390Val)	SARM1, SLC46A1 (A362V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1491983	NM_080669.6(SLC46A1):c.1171C>G (p.Leu391Val)	SARM1, SLC46A1 (L363V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1489802	NM_080669.6(SLC46A1):c.1214C>T (p.Thr405Met)	SARM1, SLC46A1 (T377M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1483002	NM_080669.6(SLC46A1):c.1261A>G (p.Met421Val)	SARM1, SLC46A1 (M421V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482347	NM_080669.6(SLC46A1):c.1350C>T (p.Leu450=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1476153	NM_080669.6(SLC46A1):c.1250C>T (p.Thr417Ile)	SARM1, SLC46A1 (T389I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469805	NM_080669.6(SLC46A1):c.1148T>C (p.Val383Ala)	SARM1, SLC46A1 (V383A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1455352	NM_080669.6(SLC46A1):c.1236_1239del (p.Leu413fs)	SARM1, SLC46A1 (L413fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1442974	NM_080669.6(SLC46A1):c.1202T>C (p.Leu401Pro)	SARM1, SLC46A1 (L373P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1433870	NM_080669.6(SLC46A1):c.1307C>T (p.Pro436Leu)	SARM1, SLC46A1 (P408L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396743	NM_080669.6(SLC46A1):c.1286G>A (p.Gly429Glu)	SARM1, SLC46A1 (G429E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1383028	NM_080669.6(SLC46A1):c.1308G>A (p.Pro436=)	SARM1, SLC46A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1366701	NM_080669.6(SLC46A1):c.1310C>A (p.Ala437Asp)	SARM1, SLC46A1 (A437D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1362807	NM_080669.6(SLC46A1):c.1165+3G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1343726	NM_080669.6(SLC46A1):c.1256A>G (p.Asn419Ser)	SARM1, SLC46A1 (N391S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1265753	NM_080669.6(SLC46A1):c.1322+249=	SARM1, SLC46A1	Single nucleotide variant (no sequence alteration +1 more)	not provided	GBenign
Select item 1261077	NM_080669.6(SLC46A1):c.1082-114T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1248777	NM_080669.6(SLC46A1):c.1082-89G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1087691	NM_080669.6(SLC46A1):c.1323-20C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 892170	NM_080669.6(SLC46A1):c.*297C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892169	NM_080669.6(SLC46A1):c.*351C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892168	NM_080669.6(SLC46A1):c.*476G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892167	NM_080669.6(SLC46A1):c.*671C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892121	NM_080669.6(SLC46A1):c.*1981C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892120	NM_080669.6(SLC46A1):c.*2027C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892119	NM_080669.6(SLC46A1):c.*2217A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892118	NM_080669.6(SLC46A1):c.*2262G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892077	NM_080669.6(SLC46A1):c.*3279C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892076	NM_080669.6(SLC46A1):c.*3456G>C	SARM1, SLC46A1 (R697G)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 892030	NM_080669.6(SLC46A1):c.*4804T>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890878	NM_080669.6(SLC46A1):c.*2486T>C	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890877	NM_080669.6(SLC46A1):c.*2724G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890379	NM_080669.6(SLC46A1):c.*1249G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890378	NM_080669.6(SLC46A1):c.*1298G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890377	NM_080669.6(SLC46A1):c.*1335C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890376	NM_080669.6(SLC46A1):c.*1336G>A	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890375	NM_080669.6(SLC46A1):c.*1383A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890320	NM_080669.6(SLC46A1):c.*2746G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 890319	NM_080669.6(SLC46A1):c.*2852C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 890318	NM_080669.6(SLC46A1):c.*2868G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890317	NM_080669.6(SLC46A1):c.*2901C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890272	NM_080669.6(SLC46A1):c.*3985A>T	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890271	NM_080669.6(SLC46A1):c.*4035G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GLikely benign
Select item 890270	NM_080669.6(SLC46A1):c.*4071G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890269	NM_080669.6(SLC46A1):c.*4091C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890268	NM_080669.6(SLC46A1):c.*4158G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888672	NM_080669.6(SLC46A1):c.*1521G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888671	NM_080669.6(SLC46A1):c.*1839G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888618	NM_080669.6(SLC46A1):c.*2945G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888617	NM_080669.6(SLC46A1):c.*3120A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 888569	NM_080669.6(SLC46A1):c.*4184T>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888568	NM_080669.6(SLC46A1):c.*4418C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888567	NM_080669.6(SLC46A1):c.*4584C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GBenign
Select item 453189	NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu)	SARM1, SLC46A1 (F420L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 403460	NM_080669.6(SLC46A1):c.1226= (p.Ile409=)	SARM1, SLC46A1	Deletion (no sequence alteration)	not specified +1 more	GBenign
Select item 322404	NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu)	SARM1, SLC46A1 (P456L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322403	NM_080669.6(SLC46A1):c.*4G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322402	NM_080669.6(SLC46A1):c.*11C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322401	NM_080669.6(SLC46A1):c.*60G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322400	NM_080669.6(SLC46A1):c.*90G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322399	NM_080669.6(SLC46A1):c.*129C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance

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