C4225425[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (clinical) +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 (clinical) +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 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 345143	NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)	LOC129936510, SLC25A38	Single nucleotide variant (synonymous variant)	not provided +2 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 281680	NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 345145	NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)	SLC25A38 (T80R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 345146	NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)	SLC25A38	Single nucleotide variant (synonymous variant)	Refractory anemia with ringed sideroblasts (clinical) +2 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 1119	NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)	SLC25A38 (Y109fs)	Microsatellite (frameshift variant)	SLC25A38-Related Disorders +2 more	GPathogenic/Likely pathogenic
Select item 345147	NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)	SLC25A38 (M128V)	Single nucleotide variant (missense variant)	SLC25A38-related condition +4 more	GBenign/Likely benign
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 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 899963	NM_017875.4(SLC25A38):c.456+10A>G	SLC25A38	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 345149	NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)	SLC25A38	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 506833	NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=)	SLC25A38	Single nucleotide variant (synonymous variant)	SLC25A38-related condition +3 more	GConflicting classifications of pathogenicity
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 901140	NM_017875.4(SLC25A38):c.528C>A (p.Gly176=)	SLC25A38	Single nucleotide variant (synonymous 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 1120	NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)	SLC25A38 (R187P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 345150	NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)	SLC25A38	Single nucleotide variant (synonymous variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
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 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 901142	NM_017875.4(SLC25A38):c.626-5T>C	SLC25A38	Single nucleotide variant (intron variant)	not provided +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)	not provided +3 more	GUncertain significance
Select item 901143	NM_017875.4(SLC25A38):c.780A>G (p.Thr260=)	SLC25A38	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 901678	NM_017875.4(SLC25A38):c.*305G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	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 (clinical) +2 more	GBenign
Select item 345154	NM_017875.4(SLC25A38):c.*370C>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2 +1 more	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 901680	NM_017875.4(SLC25A38):c.*395G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
Select item 345155	NM_017875.4(SLC25A38):c.*404G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
Select item 345156	NM_017875.4(SLC25A38):c.*431G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Refractory anemia with ringed sideroblasts (clinical) +2 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 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 903628	NM_017875.4(SLC25A38):c.*547C>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance
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 903630	NM_017875.4(SLC25A38):c.*549G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GLikely benign
Select item 345159	NM_017875.4(SLC25A38):c.*588T>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Refractory anemia with ringed sideroblasts (clinical) +2 more	GBenign/Likely benign
Select item 903631	NM_017875.4(SLC25A38):c.*718G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Sideroblastic anemia 2	GUncertain significance

ClinVar

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Items: 56