SLC25A22[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005114, LOC130005115 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 306230	NM_001191061.2(SLC25A22):c.*1431T>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306231	NM_001191061.2(SLC25A22):c.*1418AATA[2]	SLC25A22	Microsatellite (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	GUncertain significance
Select item 883537	NM_001191061.2(SLC25A22):c.*1301C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 883538	NM_001191061.2(SLC25A22):c.*1292T>C	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306232	NM_001191061.2(SLC25A22):c.*1277C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306233	NM_001191061.2(SLC25A22):c.*1153C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GBenign
Select item 306234	NM_001191061.2(SLC25A22):c.*1084C>G	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306235	NM_001191061.2(SLC25A22):c.*1057C>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306236	NM_001191061.2(SLC25A22):c.*1041C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306237	NM_001191061.2(SLC25A22):c.*1013C>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 881168	NM_001191061.2(SLC25A22):c.*1000C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306238	NM_001191061.2(SLC25A22):c.*940T>C	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 881169	NM_001191061.2(SLC25A22):c.*937G>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306239	NM_001191061.2(SLC25A22):c.*906G>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GBenign
Select item 306240	NM_001191061.2(SLC25A22):c.*845T>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306241	NM_001191061.2(SLC25A22):c.*841A>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GBenign
Select item 306242	NM_001191061.2(SLC25A22):c.*810C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306243	NM_001191061.2(SLC25A22):c.*780C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	GUncertain significance
Select item 881635	NM_001191061.2(SLC25A22):c.*778G>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306244	NM_001191061.2(SLC25A22):c.*760G>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306245	NM_001191061.2(SLC25A22):c.*753G>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 881636	NM_001191061.2(SLC25A22):c.*746G>C	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306246	NM_001191061.2(SLC25A22):c.*712T>C	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GBenign
Select item 306247	NM_001191061.2(SLC25A22):c.*711G>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306248	NM_001191061.2(SLC25A22):c.*696TG[6]	SLC25A22	Microsatellite (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	GLikely benign
Select item 306249	NM_001191061.2(SLC25A22):c.*693G>C	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306250	NM_001191061.2(SLC25A22):c.*560C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	GUncertain significance
Select item 306251	NM_001191061.2(SLC25A22):c.*510A>G	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306252	NM_001191061.2(SLC25A22):c.*453C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GBenign
Select item 306253	NM_001191061.2(SLC25A22):c.*436C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GBenign
Select item 306254	NM_001191061.2(SLC25A22):c.*328C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 882798	NM_001191061.2(SLC25A22):c.*221C>G	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306255	NM_001191061.2(SLC25A22):c.*209A>G	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	GUncertain significance
Select item 882799	NM_001191061.2(SLC25A22):c.*171G>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 306256	NM_001191061.2(SLC25A22):c.*107G>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306257	NM_001191061.2(SLC25A22):c.*39C>T	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 159910	NM_001191061.2(SLC25A22):c.*34A>G	SLC25A22	Single nucleotide variant (3 prime UTR variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 207155	NM_001191061.2(SLC25A22):c.*20C>A	SLC25A22	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 139147	NM_001191061.2(SLC25A22):c.*17A>C	SLC25A22	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
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 461382	NM_001191061.2(SLC25A22):c.967G>A (p.Ala323Thr)	SLC25A22 (A323T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3163623	NM_001191061.2(SLC25A22):c.966G>C (p.Gln322His)	SLC25A22 (Q216H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1350551	NM_001191061.2(SLC25A22):c.965A>G (p.Gln322Arg)	SLC25A22 (Q322R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 883583	NM_001191061.2(SLC25A22):c.959A>G (p.Asp320Gly)	SLC25A22 (D320G)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2435993	NM_001191061.2(SLC25A22):c.955C>T (p.Gln319Ter)	SLC25A22 (Q319*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 857316	NM_001191061.2(SLC25A22):c.955del (p.Gln319fs)	SLC25A22 (Q319fs)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530622	NM_001191061.2(SLC25A22):c.948G>T (p.Gly316=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 659489	NM_001191061.2(SLC25A22):c.945G>A (p.Leu315=)	SLC25A22	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1656500	NM_001191061.2(SLC25A22):c.940C>T (p.Leu314=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2799311	NM_001191061.2(SLC25A22):c.939C>T (p.Ser313=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 2427857	NM_001191061.2(SLC25A22):c.936G>A (p.Glu312=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 139146	NM_001191061.2(SLC25A22):c.933G>A (p.Ala311=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 660730	NM_001191061.2(SLC25A22):c.932C>T (p.Ala311Val)	SLC25A22 (A311V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 378596	NM_001191061.2(SLC25A22):c.930C>T (p.Ile310=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 1056086	NM_001191061.2(SLC25A22):c.929T>C (p.Ile310Thr)	SLC25A22 (I310T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2138824	NM_001191061.2(SLC25A22):c.927C>T (p.Gly309=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2096459	NM_001191061.2(SLC25A22):c.926G>A (p.Gly309Asp)	SLC25A22 (G309D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1138592	NM_001191061.2(SLC25A22):c.922C>T (p.Leu308=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	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 415721	NM_001191061.2(SLC25A22):c.909G>A (p.Gln303=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 530646	NM_001191061.2(SLC25A22):c.903C>T (p.Ile301=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 386120	NM_001191061.2(SLC25A22):c.900C>T (p.Gly300=)	SLC25A22	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2135409	NM_001191061.2(SLC25A22):c.899G>T (p.Gly300Val)	SLC25A22 (G300V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 843284	NM_001191061.2(SLC25A22):c.898G>A (p.Gly300Ser)	SLC25A22 (G300S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 159918	NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=)	SLC25A22	Single nucleotide variant (synonymous variant)	SLC25A22-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2918544	NM_001191061.2(SLC25A22):c.891C>G (p.Pro297=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2820333	NM_001191061.2(SLC25A22):c.891C>A (p.Pro297=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 385902	NM_001191061.2(SLC25A22):c.888G>A (p.Ala296=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1060240	NM_001191061.2(SLC25A22):c.887C>T (p.Ala296Val)	SLC25A22 (A296V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 212199	NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=)	SLC25A22	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 461381	NM_001191061.2(SLC25A22):c.883A>G (p.Ile295Val)	SLC25A22 (I295V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1674742	NM_001191061.2(SLC25A22):c.882C>T (p.Val294=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 835677	NM_001191061.2(SLC25A22):c.880G>C (p.Val294Leu)	SLC25A22 (V294L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 139145	NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)	SLC25A22	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 643163	NM_001191061.2(SLC25A22):c.875C>T (p.Ala292Val)	SLC25A22 (A292V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207173	NM_001191061.2(SLC25A22):c.874G>A (p.Ala292Thr)	SLC25A22 (A292T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 409629	NM_001191061.2(SLC25A22):c.873C>T (p.Arg291=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1911431	NM_001191061.2(SLC25A22):c.872G>A (p.Arg291His)	SLC25A22 (R291H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1021665	NM_001191061.2(SLC25A22):c.871C>T (p.Arg291Cys)	SLC25A22 (R291C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1381841	NM_001191061.2(SLC25A22):c.869G>A (p.Cys290Tyr)	SLC25A22 (C290Y)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 193741	NM_001191061.2(SLC25A22):c.868T>C (p.Cys290Arg)	SLC25A22 (C290R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532789	NM_001191061.2(SLC25A22):c.864C>T (p.Ala288=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2730143	NM_001191061.2(SLC25A22):c.862G>A (p.Ala288Thr)	SLC25A22 (A288T +6 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 306258	NM_001191061.2(SLC25A22):c.861C>T (p.Gly287=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive +1 more	GConflicting classifications of pathogenicity
Select item 1150075	NM_001191061.2(SLC25A22):c.853C>T (p.Leu285=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1132129	NM_001191061.2(SLC25A22):c.849C>T (p.Ala283=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 697868	NM_001191061.2(SLC25A22):c.846G>A (p.Ser282=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1370627	NM_001191061.2(SLC25A22):c.845C>T (p.Ser282Leu)	SLC25A22 (S282L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1346851	NM_001191061.2(SLC25A22):c.836A>G (p.Glu279Gly)	SLC25A22 (E279G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 193742	NM_001191061.2(SLC25A22):c.834C>T (p.His278=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity

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