ClinVar for MedGen (Select 899109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362259	NM_017875.4(SLC25A38):c.803dup (p.Arg269fs)	SLC25A38 (R269fs +1 more)	Duplication (frameshift variant)	Sideroblastic anemia 2	GUncertain significance
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 2674613	NM_017875.4(SLC25A38):c.793-1G>C	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GLikely pathogenic
Select item 1704376	NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)	SLC25A38 (K29E)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GUncertain significance
Select item 1292152	NM_017875.4(SLC25A38):c.626-36G>C	SLC25A38	Single nucleotide variant (intron variant)	Sideroblastic anemia 2 +1 more	GBenign
Select item 1292085	NM_017875.4(SLC25A38):c.456+36G>A	SLC25A38	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1172509	NM_017875.4(SLC25A38):c.409dup (p.Ala137fs)	SLC25A38 (A137fs)	Duplication (frameshift variant)	Sideroblastic anemia 2 +1 more	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 1172495	NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val)	SLC25A38 (G228V)	Single nucleotide variant (missense variant +1 more)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
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 1172490	NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter)	SLC25A38 (P222L +1 more)	Single nucleotide variant (missense variant +1 more)	Sideroblastic anemia 2 +1 more	GPathogenic/Likely pathogenic
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 1172486	NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)	SLC25A38 (R187Q)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
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 1172480	NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs)	SLC25A38 (C223fs)	Deletion (frameshift variant +1 more)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
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 903631	NM_017875.4(SLC25A38):c.*718G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
Select item 903630	NM_017875.4(SLC25A38):c.*549G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GLikely benign
Select item 903629	NM_017875.4(SLC25A38):c.*548G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
Select item 903628	NM_017875.4(SLC25A38):c.*547C>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
Select item 903565	NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys)	SLC25A38 (R67C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 901680	NM_017875.4(SLC25A38):c.*395G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
Select item 901679	NM_017875.4(SLC25A38):c.*381G>C	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
Select item 901678	NM_017875.4(SLC25A38):c.*305G>A	SLC25A38	Single nucleotide variant (3 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 901144	NM_017875.4(SLC25A38):c.*212T>G	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2 +1 more	GBenign
Select item 901143	NM_017875.4(SLC25A38):c.780A>G (p.Thr260=)	SLC25A38	Single nucleotide variant (synonymous variant +1 more)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 901142	NM_017875.4(SLC25A38):c.626-5T>C	SLC25A38	Single nucleotide variant (intron variant)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 901141	NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn)	SLC25A38 (D209N +1 more)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GUncertain significance
Select item 901140	NM_017875.4(SLC25A38):c.528C>A (p.Gly176=)	SLC25A38	Single nucleotide variant (synonymous variant)	Sideroblastic anemia 2	GUncertain significance
Select item 901070	NM_017875.4(SLC25A38):c.-273G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2 +1 more	GLikely benign
Select item 899963	NM_017875.4(SLC25A38):c.456+10A>G	SLC25A38	Single nucleotide variant (intron variant)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 899962	NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala)	SLC25A38 (V101A)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
Select item 899961	NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val)	SLC25A38 (I94V)	Single nucleotide variant (missense 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)	Sideroblastic anemia 2 +1 more	GConflicting classifications of pathogenicity
Select item 631920	NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)	SLC25A38 (D209H +1 more)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GPathogenic/Likely pathogenic
Select item 631919	NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)	SLC25A38 (R134C)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2	GConflicting classifications of pathogenicity
Select item 561108	NM_017875.4(SLC25A38):c.70-2A>C	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 506833	NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=)	SLC25A38	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 383031	NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly)	SLC25A38 (R66G)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2 +1 more	GBenign/Likely benign
Select item 382043	NM_017875.4(SLC25A38):c.525G>C (p.Arg175=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 345159	NM_017875.4(SLC25A38):c.*588T>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Refractory anemia with ringed sideroblasts +2 more	GBenign/Likely benign
Select item 345158	NM_017875.4(SLC25A38):c.*490G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 345157	NM_017875.4(SLC25A38):c.*472G>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia 1 +2 more	GBenign/Likely benign
Select item 345156	NM_017875.4(SLC25A38):c.*431G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 345155	NM_017875.4(SLC25A38):c.*404G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Refractory anemia with ringed sideroblasts +1 more	GUncertain significance
Select item 345154	NM_017875.4(SLC25A38):c.*370C>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Refractory anemia with ringed sideroblasts +1 more	GUncertain significance
Select item 345153	NM_017875.4(SLC25A38):c.*310A>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Refractory anemia with ringed sideroblasts +2 more	GBenign
Select item 345152	NM_017875.4(SLC25A38):c.*304C>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 345151	NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)	SLC25A38 (I218F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 345150	NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)	SLC25A38	Single nucleotide variant (synonymous variant)	Refractory anemia with ringed sideroblasts +1 more	GUncertain significance
Select item 345149	NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)	SLC25A38	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 345148	NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)	SLC25A38 (T149M)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 345147	NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)	SLC25A38 (M128V)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +3 more	GBenign/Likely benign
Select item 345146	NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)	SLC25A38	Single nucleotide variant (synonymous variant)	Refractory anemia with ringed sideroblasts +2 more	GConflicting classifications of pathogenicity
Select item 345145	NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)	SLC25A38 (T80R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 345144	NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)	SLC25A38 (R54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 345143	NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)	SLC25A38, LOC129936510	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 345142	NM_017875.4(SLC25A38):c.-69C>T	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
Select item 345141	NM_017875.4(SLC25A38):c.-161G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Refractory anemia with ringed sideroblasts +2 more	GUncertain significance
Select item 345140	NM_017875.4(SLC25A38):c.-209A>G	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Refractory anemia with ringed sideroblasts +2 more	GBenign/Likely benign
Select item 345139	NM_017875.4(SLC25A38):c.-219T>C	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 345138	NM_017875.4(SLC25A38):c.-225G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 345137	NM_017875.4(SLC25A38):c.-227G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 345136	NM_017875.4(SLC25A38):c.-237G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
Select item 345135	NM_017875.4(SLC25A38):c.-292G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 345134	NM_017875.4(SLC25A38):c.-303A>C	SLC25A38	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign

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