SLC25A38[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 1205596	NC_000003.12:g.39383031A>T	SLC25A38	Single nucleotide variant	not provided	GLikely benign
Select item 345133	NM_017875.4(SLC25A38):c.-325G>C	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
Select item 345134	NM_017875.4(SLC25A38):c.-303A>C	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +2 more	GBenign/Likely benign
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 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 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 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 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 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 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 345141	NM_017875.4(SLC25A38):c.-161G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Refractory anemia with ringed sideroblasts +1 more	GUncertain significance
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 901616	NM_017875.4(SLC25A38):c.-39G>C	SLC25A38, LOC129936510	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2	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 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 631918	NM_017875.4(SLC25A38):c.2T>C (p.Met1Thr)	LOC129936510, SLC25A38 (M1T)	Single nucleotide variant (missense variant +1 more)	SLC25A38-related disorder	GUncertain significance
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 345143	NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)	LOC129936510, SLC25A38	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 2961574	NM_017875.4(SLC25A38):c.14C>G (p.Ser5Ter)	LOC129936510, SLC25A38 (S5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 389484	NM_017875.4(SLC25A38):c.18T>G (p.Arg6=)	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 2761741	NM_017875.4(SLC25A38):c.25C>T (p.Leu9=)	LOC129936510, SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163720	NM_017875.4(SLC25A38):c.34C>T (p.Pro12Ser)	LOC129936510, SLC25A38 (P12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2963110	NM_017875.4(SLC25A38):c.54G>A (p.Thr18=)	LOC129936510, SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898196	NM_017875.4(SLC25A38):c.69+7G>A	LOC129936510, SLC25A38	Single nucleotide variant (intron 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 1899915	NM_017875.4(SLC25A38):c.69+14G>C	LOC129936510, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983045	NM_017875.4(SLC25A38):c.69+16G>A	LOC129936510, 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 1193217	NM_017875.4(SLC25A38):c.69+116A>G	LOC129936511, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219552	NM_017875.4(SLC25A38):c.69+182G>A	LOC129936511, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230955	NM_017875.4(SLC25A38):c.69+207G>C	LOC129936512, SLC25A38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193422	NM_017875.4(SLC25A38):c.69+218G>T	LOC129936512, SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246678	NM_017875.4(SLC25A38):c.69+257C>T	SLC25A38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291728	NM_017875.4(SLC25A38):c.70-192A>G	SLC25A38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561108	NM_017875.4(SLC25A38):c.70-2A>C	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 3163722	NM_017875.4(SLC25A38):c.77C>T (p.Pro26Leu)	SLC25A38 (P26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1434181	NM_017875.4(SLC25A38):c.86A>G (p.Lys29Arg)	SLC25A38 (K29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305057	NM_017875.4(SLC25A38):c.101G>C (p.Gly34Ala)	SLC25A38 (G34A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987927	NM_017875.4(SLC25A38):c.122_123del (p.Ser41fs)	SLC25A38 (S41fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2985835	NM_017875.4(SLC25A38):c.123T>C (p.Ser41=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 281680	NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 373218	NM_017875.4(SLC25A38):c.166C>T (p.Gln56Ter)	SLC25A38 (Q56*)	Single nucleotide variant (nonsense)	not provided	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 2960998	NM_017875.4(SLC25A38):c.191+18T>C	SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204376	NM_017875.4(SLC25A38):c.191+326T>C	SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978126	NM_017875.4(SLC25A38):c.192-18C>T	SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978182	NM_017875.4(SLC25A38):c.192-13dup	SLC25A38	Duplication (intron variant)	not provided	GBenign
Select item 2716891	NM_017875.4(SLC25A38):c.192-8G>C	SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383031	NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly)	SLC25A38 (R66G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 903565	NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys)	SLC25A38 (R67C)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2 +2 more	GUncertain significance
Select item 2783469	NM_017875.4(SLC25A38):c.200G>T (p.Arg67Leu)	SLC25A38 (R67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196984	NM_017875.4(SLC25A38):c.200G>A (p.Arg67His)	SLC25A38 (R67H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172473	NM_017875.4(SLC25A38):c.207_214del (p.Met70fs)	SLC25A38 (M70fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1961956	NM_017875.4(SLC25A38):c.217G>A (p.Val73Ile)	SLC25A38 (V73I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172503	NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs)	SLC25A38 (K76fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 2025835	NM_017875.4(SLC25A38):c.238A>G (p.Thr80Ala)	SLC25A38 (T80A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060286	NM_017875.4(SLC25A38):c.239C>T (p.Thr80Met)	SLC25A38 (T80M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345145	NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)	SLC25A38 (T80R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1897789	NM_017875.4(SLC25A38):c.240G>A (p.Thr80=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2217391	NM_017875.4(SLC25A38):c.257T>C (p.Leu86Pro)	SLC25A38 (L86P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1172499	NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter)	SLC25A38 (W87*)	Single nucleotide variant (nonsense)	Sideroblastic anemia 2	GPathogenic
Select item 2897448	NM_017875.4(SLC25A38):c.273C>T (p.Ser91=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483436	NM_017875.4(SLC25A38):c.274C>T (p.Pro92Ser)	SLC25A38 (P92S)	Single nucleotide variant (missense variant)	not provided +1 more	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 1466872	NM_017875.4(SLC25A38):c.276+1G>C	SLC25A38	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1172504	NM_017875.4(SLC25A38):c.276+1G>T	SLC25A38	Single nucleotide variant (splice donor 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 1903618	NM_017875.4(SLC25A38):c.276+11A>G	SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381884	NM_017875.4(SLC25A38):c.276+13C>A	SLC25A38	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 671096	NM_017875.4(SLC25A38):c.276+249C>T	SLC25A38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258862	NM_017875.4(SLC25A38):c.277-147C>T	SLC25A38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990339	NM_017875.4(SLC25A38):c.277-12C>T	SLC25A38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1172475	NM_017875.4(SLC25A38):c.277-2A>C	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
Select item 1121	NM_017875.4(SLC25A38):c.277-1G>A	SLC25A38	Single nucleotide variant (splice acceptor variant)	Sideroblastic anemia 2	GPathogenic
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 2176876	NM_017875.4(SLC25A38):c.281T>C (p.Ile94Thr)	SLC25A38 (I94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 345146	NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2891969	NM_017875.4(SLC25A38):c.289T>C (p.Cys97Arg)	SLC25A38 (C97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1172483	NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu)	SLC25A38 (G102E)	Single nucleotide variant (missense 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 1119	NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)	SLC25A38 (Y109fs)	Microsatellite (frameshift variant)	Sideroblastic anemia 2 +2 more	GPathogenic/Likely pathogenic
Select item 3163719	NM_017875.4(SLC25A38):c.331T>G (p.Leu111Val)	SLC25A38 (L111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1172491	NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs)	SLC25A38 (K112fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 1118	NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter)	SLC25A38 (R117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1172476	NM_017875.4(SLC25A38):c.362del (p.Pro121fs)	SLC25A38 (P121fs)	Deletion (frameshift variant)	Sideroblastic anemia 2	GPathogenic
Select item 2082758	NM_017875.4(SLC25A38):c.366C>T (p.Thr122=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2219251	NM_017875.4(SLC25A38):c.367G>A (p.Ala123Thr)	SLC25A38 (A123T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971482	NM_017875.4(SLC25A38):c.378A>G (p.Ser126=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 345147	NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)	SLC25A38 (M128V)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +4 more	GBenign/Likely benign
Select item 2131682	NM_017875.4(SLC25A38):c.384G>A (p.Met128Ile)	SLC25A38 (M128I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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