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 3067702	NM_080669.6(SLC46A1):c.1205C>T (p.Ala402Val)	SARM1, SLC46A1 (A374V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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_015077.4(SARM1):c.*6050A>G	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)	SLC46A1, SARM1 (L422F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175600	NM_015077.4(SARM1):c.*3430G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2091015	NM_015077.4(SARM1):c.*5942T>C	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=)	SLC46A1, SARM1	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 (3 prime UTR 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)	SLC46A1, SARM1 (G408S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982636	NM_015077.4(SARM1):c.*6038G>A	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1976306	NM_015077.4(SARM1):c.*4319A>G	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)	SARM1, SLC46A1 (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_015077.4(SARM1):c.*3438C>T	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)	SARM1, SLC46A1 (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_015077.4(SARM1):c.*3445G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1633265	NM_015077.4(SARM1):c.*4497A>G	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 (synonymous 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	GUncertain significance
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_015077.4(SARM1):c.*5949C>G	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_015077.4(SARM1):c.*4075=	SARM1, SLC46A1	Single nucleotide variant (no sequence alteration +1 more)	not provided	GBenign
Select item 1261077	NM_015077.4(SARM1):c.*6149A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1248777	NM_015077.4(SARM1):c.*6124C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1087691	NM_015077.4(SARM1):c.*3447G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 892170	NM_015077.4(SARM1):c.*3073G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892169	NM_015077.4(SARM1):c.*3019G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892168	NM_015077.4(SARM1):c.*2894C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892167	NM_015077.4(SARM1):c.*2699G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892121	NM_015077.4(SARM1):c.*1389G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892120	NM_015077.4(SARM1):c.*1343G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892119	NM_015077.4(SARM1):c.*1153T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892118	NM_015077.4(SARM1):c.*1108C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892077	NM_015077.4(SARM1):c.*91G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892076	NM_015077.4(SARM1):c.2089C>G (p.Arg697Gly)	SARM1, SLC46A1 (R697G)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 892030	NM_015077.4(SARM1):c.1924-1053A>T	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890878	NM_015077.4(SARM1):c.*884A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890877	NM_015077.4(SARM1):c.*646C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890379	NM_015077.4(SARM1):c.*2121C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890378	NM_015077.4(SARM1):c.*2072C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890377	NM_015077.4(SARM1):c.*2035G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890376	NM_015077.4(SARM1):c.*2034C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890375	NM_015077.4(SARM1):c.*1987T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890320	NM_015077.4(SARM1):c.*624C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 890319	NM_015077.4(SARM1):c.*518G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 890318	NM_015077.4(SARM1):c.*502C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890317	NM_015077.4(SARM1):c.*469G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890272	NM_015077.4(SARM1):c.1924-234T>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890271	NM_015077.4(SARM1):c.1924-284C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GLikely benign
Select item 890270	NM_015077.4(SARM1):c.1924-320C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890269	NM_015077.4(SARM1):c.1924-340G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890268	NM_015077.4(SARM1):c.1924-407C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888672	NM_015077.4(SARM1):c.*1849C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888671	NM_015077.4(SARM1):c.*1531C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888618	NM_015077.4(SARM1):c.*425C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888617	NM_015077.4(SARM1):c.*250T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 888569	NM_015077.4(SARM1):c.1924-433A>C	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888568	NM_015077.4(SARM1):c.1924-667G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888567	NM_015077.4(SARM1):c.1924-833G>A	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_015077.4(SARM1):c.*4420=	SARM1, SLC46A1	Deletion (no sequence alteration)	not provided +1 more	GBenign
Select item 322404	NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu)	SLC46A1, SARM1 (P456L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322403	NM_015077.4(SARM1):c.*3366C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322402	NM_015077.4(SARM1):c.*3359G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322401	NM_015077.4(SARM1):c.*3310C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322400	NM_015077.4(SARM1):c.*3280C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322399	NM_015077.4(SARM1):c.*3241G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322398	NM_015077.4(SARM1):c.*3093T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322397	NM_015077.4(SARM1):c.*2678T>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322396	NM_015077.4(SARM1):c.*2641C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign

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