"Ambry Genetics"[submitter] AND "SLC25A22"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590074	NM_001191061.2(SLC25A22):c.*4C>G	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 1766763	NM_001191061.2(SLC25A22):c.938C>T (p.Ser313Phe)	SLC25A22 (S313F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 378596	NM_001191061.2(SLC25A22):c.930C>T (p.Ile310=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1766105	NM_001191061.2(SLC25A22):c.918C>T (p.Tyr306=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 385902	NM_001191061.2(SLC25A22):c.888G>A (p.Ala296=)	SLC25A22	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1060240	NM_001191061.2(SLC25A22):c.887C>T (p.Ala296Val)	SLC25A22 (A296V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 212199	NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 139145	NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)	SLC25A22	Single nucleotide variant (synonymous variant)	SLC25A22-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1021665	NM_001191061.2(SLC25A22):c.871C>T (p.Arg291Cys)	SLC25A22 (R291C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 193742	NM_001191061.2(SLC25A22):c.834C>T (p.His278=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 946325	NM_001191061.2(SLC25A22):c.829C>T (p.Arg277Trp)	SLC25A22 (R277W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1760884	NM_001191061.2(SLC25A22):c.784G>A (p.Glu262Lys)	SLC25A22 (E262K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 198910	NM_001191061.2(SLC25A22):c.725C>T (p.Ala242Val)	SLC25A22 (A242V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 306261	NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 139142	NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 461378	NM_001191061.2(SLC25A22):c.681G>A (p.Val227=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 207170	NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)	SLC25A22 (V227M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 306262	NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=)	SLC25A22	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1154572	NM_001191061.2(SLC25A22):c.657C>T (p.Ser219=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 385390	NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1021010	NM_001191061.2(SLC25A22):c.653C>T (p.Ala218Val)	SLC25A22 (A218V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 645457	NM_001191061.2(SLC25A22):c.650C>T (p.Pro217Leu)	SLC25A22 (P217L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 418566	NM_001191061.2(SLC25A22):c.647G>A (p.Arg216His)	SLC25A22 (R216H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 139141	NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign
Select item 1750815	NM_001191061.2(SLC25A22):c.597C>G (p.Pro199=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 139140	NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)	SLC25A22	Single nucleotide variant (synonymous variant)	SLC25A22-related condition +5 more	GConflicting classifications of pathogenicity
Select item 198592	NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)	SLC25A22	Single nucleotide variant (synonymous variant)	SLC25A22-related condition +4 more	GConflicting classifications of pathogenicity
Select item 139139	NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)	SLC25A22	Single nucleotide variant (synonymous variant)	SLC25A22-related condition +6 more	GConflicting classifications of pathogenicity
Select item 207169	NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu)	SLC25A22 (K188E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3 +3 more	GUncertain significance
Select item 159917	NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 1385239	NM_001191061.2(SLC25A22):c.535C>T (p.Arg179Trp)	SLC25A22 (R179W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 207167	NM_001191061.2(SLC25A22):c.524G>T (p.Arg175Leu)	SLC25A22 (R175L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 699720	NM_001191061.2(SLC25A22):c.519G>T (p.Leu173=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 418494	NM_001191061.2(SLC25A22):c.506C>T (p.Thr169Met)	SLC25A22 (T169M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1745005	NM_001191061.2(SLC25A22):c.504C>T (p.Pro168=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 207153	NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)	SLC25A22 (R167Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 139138	NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 843062	NM_001191061.2(SLC25A22):c.494C>T (p.Ala165Val)	SLC25A22 (A165V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 844923	NM_001191061.2(SLC25A22):c.493G>A (p.Ala165Thr)	SLC25A22 (A165T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1421265	NM_001191061.2(SLC25A22):c.467C>A (p.Ala156Asp)	SLC25A22 (A156D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 207152	NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala)	SLC25A22 (G155A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 588331	NM_001191061.2(SLC25A22):c.453G>A (p.Ser151=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 139137	NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val)	SLC25A22 (L150V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign
Select item 207151	NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)	SLC25A22	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1448420	NM_001191061.2(SLC25A22):c.365C>T (p.Thr122Met)	SLC25A22 (T122M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589904	NM_001191061.2(SLC25A22):c.344C>T (p.Thr115Ile)	SLC25A22 (T115I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 139134	NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 2614538	NM_001191061.2(SLC25A22):c.316G>A (p.Glu106Lys)	SLC25A22 (E106K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 207157	NM_001191061.2(SLC25A22):c.267C>G (p.Phe89Leu)	SLC25A22 (F89L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 1481666	NM_001191061.2(SLC25A22):c.263A>G (p.Asp88Gly)	SLC25A22 (D88G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 159913	NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 1787902	NM_001191061.2(SLC25A22):c.221C>T (p.Thr74Ile)	SLC25A22 (T74I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 516665	NM_001191061.2(SLC25A22):c.207T>G (p.Ala69=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2224923	NM_001191061.2(SLC25A22):c.200G>A (p.Arg67Gln)	SLC25A22 (R67Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 392861	NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser)	SLC25A22 (G64S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1782240	NM_001191061.2(SLC25A22):c.189C>T (p.Phe63=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 159911	NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile)	SLC25A22 (V57I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 139131	NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)	SLC25A22 (D51N)	Single nucleotide variant (missense variant)	SLC25A22-related condition +5 more	GConflicting classifications of pathogenicity
Select item 306268	NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 847879	NM_001191061.2(SLC25A22):c.146+6T>C	SLC25A22	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 516664	NM_001191061.2(SLC25A22):c.141G>C (p.Thr47=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 207161	NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)	SLC25A22 (T47M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 139130	NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)	SLC25A22	Single nucleotide variant (synonymous variant)	SLC25A22-related condition +5 more	GConflicting classifications of pathogenicity
Select item 207159	NM_001191061.2(SLC25A22):c.124G>A (p.Gly42Ser)	SLC25A22 (G42S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 1757806	NM_001191061.2(SLC25A22):c.123C>G (p.Asn41Lys)	SLC25A22 (N41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 207148	NM_001191061.2(SLC25A22):c.75C>T (p.Cys25=)	SLC25A22	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1091186	NM_001191061.2(SLC25A22):c.63C>T (p.Ile21=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 380808	NM_001191061.2(SLC25A22):c.54C>T (p.Ala18=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 560664	NM_001191061.2(SLC25A22):c.46G>A (p.Gly16Ser)	SLC25A22 (G16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1417329	NM_001191061.2(SLC25A22):c.16A>G (p.Ile6Val)	SLC25A22 (I6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1751014	NM_001191061.2(SLC25A22):c.-5G>C	SLC25A22	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance

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Items: 71