SLC25A21[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 147567	GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1	BRMS1L, INSM2 +26 more	Copy number loss	See cases	GPathogenic
Select item 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 more	Copy number gain	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 151241	GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1	LOC108281111, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
Select item 13769	NC_000014.9:g.(36613381_36657568)_(36679362_?)del	LOC108281111, PAX9 +1 more	Deletion	Tooth agenesis, selective, 3	GPathogenic
Select item 1635468	NM_030631.4(SLC25A21):c.897G>T (p.Trp299Cys)	SLC25A21 (W299C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1430303	NM_030631.4(SLC25A21):c.860T>A (p.Val287Asp)	SLC25A21 (V287D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2870999	NM_030631.4(SLC25A21):c.859G>A (p.Val287Ile)	SLC25A21 (V287I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319201	NM_030631.4(SLC25A21):c.854T>C (p.Leu285Pro)	SLC25A21 (L285P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1631845	NM_030631.4(SLC25A21):c.839-5T>C	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665374	NM_030631.4(SLC25A21):c.839-20dup	SLC25A21	Duplication (intron variant)	not provided	GBenign
Select item 1460565	NM_030631.4(SLC25A21):c.823A>G (p.Met275Val)	SLC25A21 (M275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221519	NM_030631.4(SLC25A21):c.814C>T (p.Pro272Ser)	SLC25A21 (P272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1921179	NM_030631.4(SLC25A21):c.785+16_785+21del	SLC25A21	Deletion (intron variant)	not provided	GLikely benign
Select item 1445074	NM_030631.4(SLC25A21):c.785+9A>G	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097365	NM_030631.4(SLC25A21):c.778G>C (p.Glu260Gln)	SLC25A21 (E260Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2596701	NM_030631.4(SLC25A21):c.762G>T (p.Met254Ile)	SLC25A21 (M254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394309	NM_030631.4(SLC25A21):c.760A>G (p.Met254Val)	SLC25A21 (M254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2107632	NM_030631.4(SLC25A21):c.760A>T (p.Met254Leu)	SLC25A21 (M254L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921482	NM_030631.4(SLC25A21):c.758C>T (p.Thr253Ile)	SLC25A21 (T253I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2297228	NM_030631.4(SLC25A21):c.733A>T (p.Ile245Phe)	SLC25A21 (I245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319200	NM_030631.4(SLC25A21):c.727G>C (p.Gly243Arg)	SLC25A21 (G243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2020712	NM_030631.4(SLC25A21):c.706C>T (p.Gln236Ter)	SLC25A21 (Q236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 827876	NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg)	SLC25A21 (K232R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 18	GPathogenic
Select item 1350079	NM_030631.4(SLC25A21):c.668T>A (p.Val223Asp)	SLC25A21 (V223D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016779	NM_030631.4(SLC25A21):c.664T>C (p.Ser222Pro)	SLC25A21 (S222P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512533	NM_030631.4(SLC25A21):c.658A>G (p.Ile220Val)	SLC25A21 (I220V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520793	NM_030631.4(SLC25A21):c.652G>A (p.Gly218Arg)	SLC25A21 (G218R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156666	NM_030631.4(SLC25A21):c.651G>A (p.Ser217=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993829	NM_030631.4(SLC25A21):c.636G>T (p.Gly212=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649583	NM_030631.4(SLC25A21):c.623G>A (p.Trp208Ter)	SLC25A21 (W208*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2798850	NM_030631.4(SLC25A21):c.618G>A (p.Glu206=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644181	NM_030631.4(SLC25A21):c.607C>T (p.Pro203Ser)	SLC25A21 (P203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177114	NM_030631.4(SLC25A21):c.604-7_604-3del	SLC25A21	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1617799	NM_030631.4(SLC25A21):c.604-15C>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1583421	NM_030631.4(SLC25A21):c.604-18A>C	SLC25A21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2765637	NM_030631.4(SLC25A21):c.603+17T>G	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782254	NM_030631.4(SLC25A21):c.564C>T (p.Gly188=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1687162	NM_030631.4(SLC25A21):c.532C>T (p.Arg178Ter)	SLC25A21 (R178*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 18	GPathogenic
Select item 1645293	NM_030631.4(SLC25A21):c.511G>A (p.Gly171Arg)	SLC25A21 (G171R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1957111	NM_030631.4(SLC25A21):c.494del (p.Leu165fs)	SLC25A21 (L165fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1576595	NM_030631.4(SLC25A21):c.485G>A (p.Gly162Asp)	SLC25A21 (G162D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1492564	NM_030631.4(SLC25A21):c.484G>A (p.Gly162Ser)	SLC25A21 (G162S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462501	NM_030631.4(SLC25A21):c.458A>T (p.Tyr153Phe)	SLC25A21 (Y153F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983739	NM_030631.4(SLC25A21):c.457T>C (p.Tyr153His)	SLC25A21 (Y153H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1332980	NM_030631.4(SLC25A21):c.441A>G (p.Gln147=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1901236	NM_030631.4(SLC25A21):c.439-2A>T	SLC25A21	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2907687	NM_030631.4(SLC25A21):c.438+6C>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2745639	NM_030631.4(SLC25A21):c.438+2T>G	SLC25A21	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1531669	NM_030631.4(SLC25A21):c.428C>T (p.Thr143Ile)	SLC25A21 (T143I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2904145	NM_030631.4(SLC25A21):c.422G>A (p.Arg141Gln)	SLC25A21 (R141Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952381	NM_030631.4(SLC25A21):c.413A>G (p.Gln138Arg)	SLC25A21 (Q138R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644182	NM_030631.4(SLC25A21):c.408C>T (p.Gly136=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496483	NM_030631.4(SLC25A21):c.358G>C (p.Gly120Arg)	SLC25A21 (G120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1503789	NM_030631.4(SLC25A21):c.348A>T (p.Gly116=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013875	NM_030631.4(SLC25A21):c.340A>G (p.Ile114Val)	SLC25A21 (I114V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887008	NM_030631.4(SLC25A21):c.338C>T (p.Ala113Val)	SLC25A21 (A113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377221	NM_030631.4(SLC25A21):c.337G>A (p.Ala113Thr)	SLC25A21 (A113T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2991228	NM_030631.4(SLC25A21):c.331-9T>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578742	NM_030631.4(SLC25A21):c.330+14T>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661932	NM_030631.4(SLC25A21):c.330+7G>C	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549170	NM_030631.4(SLC25A21):c.330+6T>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1922820	NM_030631.4(SLC25A21):c.330+5G>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1361589	NM_030631.4(SLC25A21):c.322C>T (p.Pro108Ser)	SLC25A21 (P108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614951	NM_030631.4(SLC25A21):c.316C>T (p.Leu106=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898994	NM_030631.4(SLC25A21):c.315A>G (p.Ser105=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617134	NM_030631.4(SLC25A21):c.308A>G (p.Tyr103Cys)	SLC25A21 (Y103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1606029	NM_030631.4(SLC25A21):c.298T>C (p.Leu100=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2332450	NM_030631.4(SLC25A21):c.293A>G (p.Lys98Arg)	SLC25A21 (K98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2790653	NM_030631.4(SLC25A21):c.271-16T>G	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821407	NM_030631.4(SLC25A21):c.271-17T>G	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659388	NM_030631.4(SLC25A21):c.270+19C>T	SLC25A21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1938690	NM_030631.4(SLC25A21):c.270+16G>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584129	NM_030631.4(SLC25A21):c.270+16G>C	SLC25A21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1332981	NM_030631.4(SLC25A21):c.270+15C>T	SLC25A21	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1898128	NM_030631.4(SLC25A21):c.268A>G (p.Lys90Glu)	SLC25A21 (K90E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012832	NM_030631.4(SLC25A21):c.254del (p.Pro85fs)	SLC25A21 (P85fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2552443	NM_030631.4(SLC25A21):c.251C>T (p.Thr84Ile)	SLC25A21 (T84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319697	NM_030631.4(SLC25A21):c.238A>G (p.Ile80Val)	SLC25A21 (I80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549470	NM_030631.4(SLC25A21):c.233C>T (p.Pro78Leu)	SLC25A21 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1952178	NM_030631.4(SLC25A21):c.212G>A (p.Gly71Asp)	SLC25A21 (G71D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1600923	NM_030631.4(SLC25A21):c.204-24726G>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 154647	GRCh38/hg38 14q13.3(chr14:36785334-37228540)x1	LOC124995371, LOC126861919 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2023651	NM_030631.4(SLC25A21):c.203+19T>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973948	NM_030631.4(SLC25A21):c.203+13T>C	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936448	NM_030631.4(SLC25A21):c.203G>C (p.Gly68Ala)	SLC25A21 (G68A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901286	NM_030631.4(SLC25A21):c.203G>T (p.Gly68Val)	SLC25A21 (G68V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163618	NM_030631.4(SLC25A21):c.198G>A (p.Met66Ile)	SLC25A21 (M66I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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