Related gene-specific medical variations for Gene (Select 54977) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069157	NM_017875.4(SLC25A38):c.559C>T (p.Arg187Ter)	SLC25A38 (R187*)	Single nucleotide variant (nonsense)	Sideroblastic anemia 2	GPathogenic
Select item 3067859	NM_017875.4(SLC25A38):c.584A>G (p.Tyr195Cys)	SLC25A38 (Y195C)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GUncertain significance
Select item 3065358	NM_017875.4(SLC25A38):c.275C>G (p.Pro92Arg)	SLC25A38 (P92R)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GLikely pathogenic
Select item 2983045	NM_017875.4(SLC25A38):c.69+16G>A	LOC129936510, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963110	NM_017875.4(SLC25A38):c.54G>A (p.Thr18=)	LOC129936510, SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961574	NM_017875.4(SLC25A38):c.14C>G (p.Ser5Ter)	LOC129936510, SLC25A38 (S5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2898196	NM_017875.4(SLC25A38):c.69+7G>A	LOC129936510, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761741	NM_017875.4(SLC25A38):c.25C>T (p.Leu9=)	LOC129936510, SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019951	NM_017875.4(SLC25A38):c.21G>A (p.Pro7=)	LOC129936510, SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007102	NM_017875.4(SLC25A38):c.24G>T (p.Ser8=)	LOC129936510, SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967268	NM_017875.4(SLC25A38):c.43G>A (p.Val15Ile)	LOC129936510, SLC25A38 (V15I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899915	NM_017875.4(SLC25A38):c.69+14G>C	LOC129936510, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1379991	NM_017875.4(SLC25A38):c.1A>G (p.Met1Val)	LOC129936510, SLC25A38 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1230955	NM_017875.4(SLC25A38):c.69+207G>C	LOC129936512, SLC25A38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219552	NM_017875.4(SLC25A38):c.69+182G>A	LOC129936511, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193422	NM_017875.4(SLC25A38):c.69+218G>T	LOC129936512, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193217	NM_017875.4(SLC25A38):c.69+116A>G	LOC129936511, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189310	NM_017875.4(SLC25A38):c.69+109G>T	LOC129936511, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1172511	NM_017875.4(SLC25A38):c.626-2A>T	SLC25A38	Single nucleotide variant (splice acceptor variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172510	NM_017875.4(SLC25A38):c.562G>C (p.Asp188His)	SLC25A38 (D188H)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172508	NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro)	SLC25A38 (L196P)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172507	NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn)	SLC25A38 (I147N)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172506	NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys)	SLC25A38 (Q56K)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172505	NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter)	SLC25A38 (Y293*)	Single nucleotide variant (stop lost +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172504	NM_017875.4(SLC25A38):c.276+1G>T	SLC25A38	Single nucleotide variant (splice donor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172503	NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs)	SLC25A38 (K76fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172502	NM_017875.4(SLC25A38):c.858del (p.Ala287fs)	SLC25A38 (A287fs +1 more)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172501	NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer)	SLC25A38	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172500	NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs)	SLC25A38 (I144fs)	Indel (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172499	NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter)	SLC25A38 (W87*)	Single nucleotide variant (nonsense)	Sideroblastic anemia 2	GPathogenic
Select item 1172498	NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro)	SLC25A38 (L230P)	Single nucleotide variant (missense variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172497	NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg)	SLC25A38 (G157R)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172496	NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn)	SLC25A38 (I94N)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172494	NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly)	SLC25A38 (P222R +1 more)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172493	NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg)	SLC25A38 (P190R)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172492	NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu)	SLC25A38 (G130E)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172491	NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs)	SLC25A38 (K112fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172489	NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter)	SLC25A38 (Q59*)	Single nucleotide variant (nonsense)	Sideroblastic anemia 2	GPathogenic
Select item 1172488	NM_017875.4(SLC25A38):c.401G>A (p.Arg134His)	SLC25A38 (R134H)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172487	NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs)	SLC25A38 (I225fs)	Indel (frameshift variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172485	NM_017875.4(SLC25A38):c.480dup (p.Ile161fs)	SLC25A38 (I161fs)	Duplication (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172484	NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg)	SLC25A38	Single nucleotide variant (3 prime UTR variant +1 more)	Sideroblastic anemia 2	GPathogenic
Select item 1172483	NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu)	SLC25A38 (G102E)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172482	NM_017875.4(SLC25A38):c.809dup (p.Phe271fs)	SLC25A38 (F271fs +1 more)	Duplication (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172481	NM_017875.4(SLC25A38):c.792+5G>C	SLC25A38	Single nucleotide variant (intron variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172479	NM_017875.4(SLC25A38):c.475del (p.Glu159fs)	SLC25A38 (E159fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172478	NM_017875.4(SLC25A38):c.457-1G>T	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172477	NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg)	SLC25A38 (G130R)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172476	NM_017875.4(SLC25A38):c.362del (p.Pro121fs)	SLC25A38 (P121fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172475	NM_017875.4(SLC25A38):c.277-2A>C	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172474	NM_017875.4(SLC25A38):c.276+1G>A	SLC25A38	Single nucleotide variant (splice donor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1172473	NM_017875.4(SLC25A38):c.207_214del (p.Met70fs)	SLC25A38 (M70fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 903564	NM_017875.4(SLC25A38):c.-15C>A	LOC129936510, SLC25A38	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
Select item 901616	NM_017875.4(SLC25A38):c.-39G>C	SLC25A38, LOC129936510	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
Select item 804435	NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs)	SLC25A38 (I225fs)	Insertion (frameshift variant +1 more)	Sideroblastic anemia 2	GLikely pathogenic
Select item 777964	NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)	LOC129936510, SLC25A38 (N4S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631918	NM_017875.4(SLC25A38):c.2T>C (p.Met1Thr)	LOC129936510, SLC25A38 (M1T)	Single nucleotide variant (missense variant +1 more)	SLC25A38-Related Disorders	GUncertain significance
Select item 441053	GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3	SLC25A38	Copy number gain	Refractory anemia with ringed sideroblasts (clinical)	Gnot provided
Select item 389484	NM_017875.4(SLC25A38):c.18T>G (p.Arg6=)	SLC25A38, LOC129936510	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 387070	NM_017875.4(SLC25A38):c.69+12G>A	LOC129936510, SLC25A38	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 345143	NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)	SLC25A38, LOC129936510	Single nucleotide variant (synonymous variant)	Sideroblastic anemia 2 +2 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 62