SLC41A3[gene] and "single gene"[properties] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164777	NM_017836.4(SLC41A3):c.*593C>G	SLC41A3 (A467G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411732	NM_017836.4(SLC41A3):c.*561G>T	SLC41A3 (L456F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536308	NM_017836.4(SLC41A3):c.*553G>A	SLC41A3 (V454M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319810	NM_017836.4(SLC41A3):c.*518T>G	SLC41A3 (L442R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164776	NM_017836.4(SLC41A3):c.*492G>T	SLC41A3 (R469S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1288070	NM_017836.4(SLC41A3):c.*207G>A	SLC41A3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3164775	NM_017836.4(SLC41A3):c.1331G>A (p.Cys444Tyr)	SLC41A3 (C327Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347096	NM_017836.4(SLC41A3):c.1291C>T (p.Arg431Trp)	SLC41A3 (R395W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253374	NM_017836.4(SLC41A3):c.1275C>G (p.Leu425=)	SLC41A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3164774	NM_017836.4(SLC41A3):c.1214A>T (p.Gln405Leu)	SLC41A3 (Q288L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379862	NM_017836.4(SLC41A3):c.1160T>A (p.Leu387Gln)	SLC41A3 (L270Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303616	NM_017836.4(SLC41A3):c.1119G>A (p.Met373Ile)	SLC41A3 (M337I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461028	NM_017836.4(SLC41A3):c.1109T>C (p.Ile370Thr)	SLC41A3 (I370T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275158	NM_017836.4(SLC41A3):c.1105+297G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2243757	NM_017836.4(SLC41A3):c.1028T>C (p.Met343Thr)	SLC41A3 (M226T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475472	NM_017836.4(SLC41A3):c.994A>C (p.Ile332Leu)	SLC41A3 (I306L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319808	NM_017836.4(SLC41A3):c.992C>G (p.Ala331Gly)	SLC41A3 (A295G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599644	NM_017836.4(SLC41A3):c.968G>A (p.Cys323Tyr)	SLC41A3 (C206Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468711	NM_017836.4(SLC41A3):c.919G>A (p.Val307Ile)	SLC41A3 (V271I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304251	NM_017836.4(SLC41A3):c.874G>A (p.Ala292Thr)	SLC41A3 (A266T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228874	NM_017836.4(SLC41A3):c.859T>C (p.Phe287Leu)	SLC41A3 (F251L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523159	NM_017836.4(SLC41A3):c.851T>C (p.Phe284Ser)	SLC41A3 (F258S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332238	NM_017836.4(SLC41A3):c.834C>G (p.Ile278Met)	SLC41A3 (I161M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164781	NM_017836.4(SLC41A3):c.761C>T (p.Thr254Met)	SLC41A3 (T137M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369183	NM_017836.4(SLC41A3):c.662C>A (p.Ala221Asp)	SLC41A3 (A185D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455610	NM_017836.4(SLC41A3):c.634A>C (p.Lys212Gln)	SLC41A3 (K176Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373769	NM_017836.4(SLC41A3):c.632G>A (p.Arg211Gln)	SLC41A3 (R175Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211333	NM_017836.4(SLC41A3):c.610G>C (p.Val204Leu)	SLC41A3 (V178L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319807	NM_017836.4(SLC41A3):c.556G>T (p.Ala186Ser)	SLC41A3 (A150S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164779	NM_017836.4(SLC41A3):c.469G>A (p.Val157Met)	SLC41A3 (V131M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270595	NM_017836.4(SLC41A3):c.453+157T>C	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3319806	NM_017836.4(SLC41A3):c.427A>C (p.Ile143Leu)	SLC41A3 (I143L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353056	NM_017836.4(SLC41A3):c.398T>C (p.Ile133Thr)	SLC41A3 (I107T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272561	NM_017836.4(SLC41A3):c.382-267_382-266insT	SLC41A3	Insertion (intron variant)	not provided	GBenign
Select item 1288106	NM_017836.4(SLC41A3):c.381+332G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239456	NM_017836.4(SLC41A3):c.381+228del	SLC41A3	Deletion (intron variant)	not provided	GBenign
Select item 1221790	NM_017836.4(SLC41A3):c.381+29G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2257714	NM_017836.4(SLC41A3):c.347T>C (p.Leu116Pro)	SLC41A3 (L90P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268597	NM_017836.4(SLC41A3):c.320C>T (p.Pro107Leu)	SLC41A3 (P107L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164778	NM_017836.4(SLC41A3):c.293A>G (p.Glu98Gly)	SLC41A3 (E98G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1241357	NM_017836.4(SLC41A3):c.274-248G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259676	NM_017836.4(SLC41A3):c.274-5535C>T	SLC41A3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1271196	NM_017836.4(SLC41A3):c.274-5925C>T	SLC41A3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249470	NM_017836.4(SLC41A3):c.273+95C>T	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221999	NM_017836.4(SLC41A3):c.273+30C>T	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261828	NM_017836.4(SLC41A3):c.-27-37G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 46