SLC46A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1611433	NM_080669.6(SLC46A1):c.1081+8G>C	SLC46A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1518482	NM_080669.6(SLC46A1):c.1073T>A (p.Met358Lys)	SLC46A1 (M358K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968180	NM_080669.6(SLC46A1):c.1066C>G (p.Pro356Ala)	SLC46A1 (P356A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545203	NM_080669.6(SLC46A1):c.1065G>A (p.Thr355=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390771	NM_080669.6(SLC46A1):c.1064C>T (p.Thr355Met)	SLC46A1 (T355M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031063	NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser)	SLC46A1 (I354S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GUncertain significance
Select item 1331394	NM_080669.6(SLC46A1):c.1037T>C (p.Met346Thr)	SLC46A1 (M346T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1577004	NM_080669.6(SLC46A1):c.1012G>A (p.Gly338Ser)	SLC46A1 (G338S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 30925	NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg)	SLC46A1 (G338R)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GPathogenic
Select item 1350686	NM_080669.6(SLC46A1):c.1011C>G (p.Ile337Met)	SLC46A1 (I337M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737134	NM_080669.6(SLC46A1):c.1011C>T (p.Ile337=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30923	NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp)	SLC46A1 (A335D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2416801	NM_080669.6(SLC46A1):c.991G>A (p.Asp331Asn)	SLC46A1 (D331N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655877	NM_080669.6(SLC46A1):c.990C>T (p.Ala330=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 801406	NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)	SLC46A1	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2847863	NM_080669.6(SLC46A1):c.978G>C (p.Gln326His)	SLC46A1 (Q326H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800313	NM_080669.6(SLC46A1):c.978G>A (p.Gln326=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713611	NM_080669.6(SLC46A1):c.972C>T (p.Leu324=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1603983	NM_080669.6(SLC46A1):c.969G>A (p.Lys323=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715003	NM_080669.6(SLC46A1):c.961G>A (p.Ala321Thr)	SLC46A1 (A321T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853	NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg)	SLC46A1 (S318R)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GPathogenic
Select item 2843634	NM_080669.6(SLC46A1):c.941C>G (p.Pro314Arg)	SLC46A1 (P314R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551141	NM_080669.6(SLC46A1):c.936T>A (p.His312Gln)	SLC46A1 (H312Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1965979	NM_080669.6(SLC46A1):c.917A>G (p.Tyr306Cys)	SLC46A1 (Y306C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784074	NM_080669.6(SLC46A1):c.912C>T (p.Ile304=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 890430	NM_080669.6(SLC46A1):c.906A>G (p.Lys302=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption +1 more	GBenign/Likely benign
Select item 322405	NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln)	SLC46A1 (K302Q)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 890431	NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn)	SLC46A1 (D300N)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GUncertain significance
Select item 2781222	NM_080669.6(SLC46A1):c.894C>T (p.Cys298=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769912	NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala)	SLC46A1 (T295A)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +2 more	GBenign/Likely benign
Select item 1646930	NM_080669.6(SLC46A1):c.867C>T (p.Thr289=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 890432	NM_080669.6(SLC46A1):c.849G>A (p.Gly283=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption	GUncertain significance
Select item 1141081	NM_080669.6(SLC46A1):c.843C>T (p.His281=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378010	NM_080669.6(SLC46A1):c.826G>A (p.Val276Met)	SLC46A1 (V276M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355235	NM_080669.6(SLC46A1):c.824del (p.Phe275fs)	SLC46A1 (F275fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1517360	NM_080669.6(SLC46A1):c.821T>A (p.Ile274Asn)	SLC46A1 (I274N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292828	NM_080669.6(SLC46A1):c.820A>G (p.Ile274Val)	SLC46A1 (I274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319237	NM_080669.6(SLC46A1):c.817G>T (p.Ala273Ser)	SLC46A1 (A273S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618756	NM_080669.6(SLC46A1):c.814C>T (p.Leu272=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710827	NM_080669.6(SLC46A1):c.810C>T (p.Tyr270=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769149	NM_080669.6(SLC46A1):c.792_802dup (p.Ala268delinsGlyAsnIleTer)	SLC46A1	Duplication (nonsense)	not provided	GPathogenic
Select item 2414846	NM_080669.6(SLC46A1):c.796C>T (p.His266Tyr)	SLC46A1 (H266Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720288	NM_080669.6(SLC46A1):c.795A>T (p.Lys265Asn)	SLC46A1 (K265N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504584	NM_080669.6(SLC46A1):c.779C>G (p.Pro260Arg)	SLC46A1 (P260R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413629	NM_080669.6(SLC46A1):c.775G>A (p.Ala259Thr)	SLC46A1 (A259T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418608	NM_080669.6(SLC46A1):c.774C>T (p.Pro258=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406485	NM_080669.6(SLC46A1):c.764A>G (p.Tyr255Cys)	SLC46A1 (Y255C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3164926	NM_080669.6(SLC46A1):c.763T>C (p.Tyr255His)	SLC46A1 (Y255H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288061	NM_080669.6(SLC46A1):c.756C>G (p.Val252=)	SLC46A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 322406	NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr)	SLC46A1 (I251T)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 1397901	NM_080669.6(SLC46A1):c.746G>C (p.Arg249Pro)	SLC46A1 (R249P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348489	NM_080669.6(SLC46A1):c.742C>T (p.His248Tyr)	SLC46A1 (H248Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921954	NM_080669.6(SLC46A1):c.739C>T (p.His247Tyr)	SLC46A1 (H247Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429762	NM_080669.6(SLC46A1):c.737G>T (p.Arg246Leu)	SLC46A1 (R246L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425407	NM_080669.6(SLC46A1):c.737G>A (p.Arg246His)	SLC46A1 (R246H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065608	NM_080669.6(SLC46A1):c.736C>T (p.Arg246Cys)	SLC46A1 (R246C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345997	NM_080669.6(SLC46A1):c.729C>G (p.Phe243Leu)	SLC46A1 (F243L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945522	NM_080669.6(SLC46A1):c.722G>A (p.Arg241Gln)	SLC46A1 (R241Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200644	NM_080669.6(SLC46A1):c.721C>T (p.Arg241Trp)	SLC46A1 (R241W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1576209	NM_080669.6(SLC46A1):c.693T>G (p.Gly231=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120585	NM_080669.6(SLC46A1):c.672_673del (p.Tyr225fs)	SLC46A1 (Y225fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 322407	NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser)	SLC46A1 (T223S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GUncertain significance
Select item 2083625	NM_080669.6(SLC46A1):c.643GCCTTG[3] (p.Leu218_Leu219insAlaLeu)	SLC46A1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 322408	NM_080669.6(SLC46A1):c.642G>A (p.Leu214=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption +1 more	GLikely benign
Select item 252777	NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe)	SLC46A1 (Y208F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1923646	NM_080669.6(SLC46A1):c.620G>A (p.Gly207Asp)	SLC46A1 (G207D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376262	NM_080669.6(SLC46A1):c.610C>T (p.Arg204Trp)	SLC46A1 (R204W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073666	NM_080669.6(SLC46A1):c.609C>T (p.Leu203=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002347	NM_080669.6(SLC46A1):c.598G>A (p.Gly200Ser)	SLC46A1 (G200S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1664741	NM_080669.6(SLC46A1):c.594C>T (p.Leu198=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010033	NM_080669.6(SLC46A1):c.591C>T (p.Leu197=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356258	NM_080669.6(SLC46A1):c.559_589del (p.Ile188fs)	SLC46A1 (I188fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1965895	NM_080669.6(SLC46A1):c.583G>A (p.Ala195Thr)	SLC46A1 (A195T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505254	NM_080669.6(SLC46A1):c.572C>T (p.Ala191Val)	SLC46A1 (A191V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871001	NM_080669.6(SLC46A1):c.565G>C (p.Gly189Arg)	SLC46A1 (G189R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499642	NM_080669.6(SLC46A1):c.562A>C (p.Ile188Leu)	SLC46A1 (I188L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111161	NM_080669.6(SLC46A1):c.541A>T (p.Met181Leu)	SLC46A1 (M181L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381137	NM_080669.6(SLC46A1):c.539G>T (p.Arg180Leu)	SLC46A1 (R180L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948418	NM_080669.6(SLC46A1):c.530G>A (p.Arg177His)	SLC46A1 (R177H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943042	NM_080669.6(SLC46A1):c.530G>T (p.Arg177Leu)	SLC46A1 (R177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962276	NM_080669.6(SLC46A1):c.523C>T (p.Arg175Cys)	SLC46A1 (R175C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383955	NM_080669.6(SLC46A1):c.518C>A (p.Ser173Tyr)	SLC46A1 (S173Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322409	NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp)	SLC46A1 (V171D)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +2 more	GConflicting classifications of pathogenicity
Select item 1912503	NM_080669.6(SLC46A1):c.507A>G (p.Ala169=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 891002	NM_080669.6(SLC46A1):c.501C>G (p.Ser167=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption	GUncertain significance
Select item 1915446	NM_080669.6(SLC46A1):c.500C>T (p.Ser167Phe)	SLC46A1 (S167F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366387	NM_080669.6(SLC46A1):c.487_493del (p.Ala163fs)	SLC46A1 (A163fs)	Deletion (frameshift variant)	Congenital defect of folate absorption	GPathogenic
Select item 1559895	NM_080669.6(SLC46A1):c.492C>T (p.Ser164=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382463	NM_080669.6(SLC46A1):c.487G>T (p.Ala163Ser)	SLC46A1 (A163S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979738	NM_080669.6(SLC46A1):c.478C>T (p.Leu160Phe)	SLC46A1 (L160F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2051827	NM_080669.6(SLC46A1):c.475G>A (p.Gly159Ser)	SLC46A1 (G159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061775	NM_080669.6(SLC46A1):c.466G>C (p.Asp156His)	SLC46A1 (D156H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65753	NM_080669.6(SLC46A1):c.466G>T (p.Asp156Tyr)	SLC46A1 (D156Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 322410	NM_080669.6(SLC46A1):c.462C>T (p.Leu154=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption	GUncertain significance
Select item 1505852	NM_080669.6(SLC46A1):c.460C>T (p.Leu154Phe)	SLC46A1 (L154F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667276	NM_080669.6(SLC46A1):c.459C>T (p.Leu153=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906600	NM_080669.6(SLC46A1):c.447C>A (p.Ile149=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1457240	NM_080669.6(SLC46A1):c.444_445insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC (p.Ile149fs)	SLC46A1 (I149fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1402281	NM_080669.6(SLC46A1):c.442C>A (p.Arg148Ser)	SLC46A1 (R148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21745	NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg)	SLC46A1 (G147R)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided

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