ClinVar for Gene (Select 79751) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369896	NM_001191061.2(SLC25A22):c.600C>G (p.Phe200Leu)	SLC25A22 (F196L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363808	NM_001191061.2(SLC25A22):c.488C>T (p.Pro163Leu)	SLC25A22 (P159L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362674	NM_001191061.2(SLC25A22):c.737G>A (p.Cys246Tyr)	SLC25A22 (C140Y +6 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 3347365	NM_001191061.2(SLC25A22):c.587+1G>A	SLC25A22	Single nucleotide variant (splice donor variant)	SLC25A22-related disorder	GUncertain significance
Select item 3340215	NM_001191061.2(SLC25A22):c.226G>A (p.Val76Ile)	SLC25A22 (V101I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3319206	NM_001191061.2(SLC25A22):c.61A>G (p.Ile21Val)	SLC25A22 (I21V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319205	NM_001191061.2(SLC25A22):c.118C>A (p.Gln40Lys)	SLC25A22 (Q40K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319203	NM_001191061.2(SLC25A22):c.715G>A (p.Ala239Thr)	SLC25A22 (A239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244780	NC_000011.9:g.(?_691481)_(795006_?)dup	CEND1, DEAF1 +5 more	Duplication	not provided	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	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 3163622	NM_001191061.2(SLC25A22):c.761A>G (p.Gln254Arg)	SLC25A22 (Q254R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163621	NM_001191061.2(SLC25A22):c.721G>A (p.Val241Met)	SLC25A22 (V135M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063226	GRCh37/hg19 11p15.5(chr11:743761-894572)x1	CD151, CEND1 +10 more	Copy number loss	not specified	GUncertain significance
Select item 3003712	NM_001191061.2(SLC25A22):c.146+10C>T	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2970337	NM_001191061.2(SLC25A22):c.819-8C>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 2897743	NM_001191061.2(SLC25A22):c.366G>A (p.Thr122=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2890022	NM_001191061.2(SLC25A22):c.818+9del	SLC25A22	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2861052	NM_001191061.2(SLC25A22):c.203-19C>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2858703	NM_001191061.2(SLC25A22):c.412+7G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2850944	NM_001191061.2(SLC25A22):c.387C>T (p.Ile129=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2832990	NM_001191061.2(SLC25A22):c.111G>A (p.Gln37=)	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 2816580	NM_001191061.2(SLC25A22):c.203-11del	SLC25A22	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2813471	NM_001191061.2(SLC25A22):c.294-10C>G	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2811440	NM_001191061.2(SLC25A22):c.159C>T (p.Leu53=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2809168	NM_001191061.2(SLC25A22):c.552C>T (p.Ala184=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2808982	NM_001191061.2(SLC25A22):c.99G>A (p.Lys33=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2805953	NM_001191061.2(SLC25A22):c.198C>T (p.Tyr66=)	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 2795330	NM_001191061.2(SLC25A22):c.762G>A (p.Gln254=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2793374	NM_001191061.2(SLC25A22):c.117G>A (p.Gln39=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2785155	NM_001191061.2(SLC25A22):c.234C>G (p.Pro78=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2784714	NM_001191061.2(SLC25A22):c.687C>T (p.Phe229=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2756205	NM_001191061.2(SLC25A22):c.504C>G (p.Pro168=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2741908	NM_001191061.2(SLC25A22):c.146+19C>T	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2741168	NM_001191061.2(SLC25A22):c.743-11G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2738885	NM_001191061.2(SLC25A22):c.293+19A>G	SLC25A22	Single nucleotide variant (intron 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 2726082	NM_001191061.2(SLC25A22):c.818+19G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2717083	NM_001191061.2(SLC25A22):c.714C>G (p.Ala238=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2712467	NM_001191061.2(SLC25A22):c.742+20C>G	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2709824	NM_001191061.2(SLC25A22):c.742+10T>C	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2707952	NM_001191061.2(SLC25A22):c.743-19A>G	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2701842	NM_001191061.2(SLC25A22):c.658G>T (p.Glu220Ter)	SLC25A22 (E233* +6 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2700228	NM_001191061.2(SLC25A22):c.8_12del (p.Asp3fs)	SLC25A22 (D3fs)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2698227	NM_001191061.2(SLC25A22):c.202+19G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2695572	NM_001191061.2(SLC25A22):c.462G>C (p.Gly154=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2690004	NM_001191061.2(SLC25A22):c.407G>A (p.Arg136His)	SLC25A22 (R132H +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2683129	NM_001191061.2(SLC25A22):c.133G>T (p.Val45Leu)	SLC25A22 (V45L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2641094	NC_000011.10:g.798093G>C	PANO1, SLC25A22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641093	NC_000011.10:g.797700G>A	PANO1, SLC25A22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2641092	NM_001191061.2(SLC25A22):c.732C>T (p.Asn244=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 2614538	NM_001191061.2(SLC25A22):c.316G>A (p.Glu106Lys)	SLC25A22 (E106K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2585604	NM_001191061.2(SLC25A22):c.94G>C (p.Ala32Pro)	SLC25A22 (A32P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2500932	NM_001191061.2(SLC25A22):c.191G>T (p.Gly64Val)	SLC25A22 (G64V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 2435995	NM_001191061.2(SLC25A22):c.200G>T (p.Arg67Leu)	SLC25A22 (R67L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 2435994	NM_001191061.2(SLC25A22):c.674T>G (p.Phe225Cys)	SLC25A22 (F225C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	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 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 2426870	NC_000011.9:g.(?_644550)_(795006_?)dup	CEND1, DEAF1 +5 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2426546	NC_000011.9:g.(?_532636)_(819925_?)dup	CDHR5, CEND1 +20 more	Duplication	Neutral lipid storage myopathy	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2413431	NM_001191061.2(SLC25A22):c.131G>A (p.Arg44His)	SLC25A22 (R44H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 2202317	NM_001191061.2(SLC25A22):c.523C>T (p.Arg175Cys)	SLC25A22 (R175C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2182317	NM_001191061.2(SLC25A22):c.203-7C>T	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2180776	NM_001191061.2(SLC25A22):c.203-14C>T	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2179169	NM_001191061.2(SLC25A22):c.818+16G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2179035	NM_001191061.2(SLC25A22):c.146+16G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2176204	NM_001191061.2(SLC25A22):c.40A>G (p.Asn14Asp)	SLC25A22 (N14D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2168249	NM_001191061.2(SLC25A22):c.293+12G>C	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2167980	NM_001191061.2(SLC25A22):c.810C>T (p.Asp270=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2165786	NM_001191061.2(SLC25A22):c.203-9G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2164025	NM_001191061.2(SLC25A22):c.20+14C>T	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2161730	NM_001191061.2(SLC25A22):c.798T>C (p.Ser266=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2157174	NM_001191061.2(SLC25A22):c.501G>A (p.Arg167=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2156699	NM_001191061.2(SLC25A22):c.291C>T (p.Asp97=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2153874	NM_001191061.2(SLC25A22):c.444C>T (p.Gly148=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2152831	NM_001191061.2(SLC25A22):c.658G>A (p.Glu220Lys)	SLC25A22 (E220K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2150090	NM_001191061.2(SLC25A22):c.551C>T (p.Ala184Val)	SLC25A22 (A184V)	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 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 2129400	NM_001191061.2(SLC25A22):c.29C>T (p.Ala10Val)	SLC25A22 (A10V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2128203	NM_001191061.2(SLC25A22):c.413-6C>T	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2123488	NM_001191061.2(SLC25A22):c.202+16G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2108184	NM_001191061.2(SLC25A22):c.734C>G (p.Pro245Arg)	SLC25A22 (P245R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2103936	NM_001191061.2(SLC25A22):c.513C>T (p.Thr171=)	SLC25A22	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2103863	NM_001191061.2(SLC25A22):c.385A>G (p.Ile129Val)	SLC25A22 (I129V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2101668	NM_001191061.2(SLC25A22):c.412+5G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 2092803	NM_001191061.2(SLC25A22):c.733C>T (p.Pro245Ser)	SLC25A22 (P245S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2092765	NM_001191061.2(SLC25A22):c.430C>G (p.Leu144Val)	SLC25A22 (L144V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2088667	NM_001191061.2(SLC25A22):c.147-7del	SLC25A22	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2079014	NM_001191061.2(SLC25A22):c.140C>G (p.Thr47Arg)	SLC25A22 (T47R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2077636	NM_001191061.2(SLC25A22):c.202+15G>A	SLC25A22	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign

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