"Invitae"[submitter] AND "SLC25A21"[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 provided +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 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 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 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 2020712	NM_030631.4(SLC25A21):c.706C>T (p.Gln236Ter)	SLC25A21 (Q236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 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 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 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 provided +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
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 1606029	NM_030631.4(SLC25A21):c.298T>C (p.Leu100=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2175214	NM_030631.4(SLC25A21):c.182G>A (p.Arg61Gln)	SLC25A21 (R61Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2182798	NM_030631.4(SLC25A21):c.181C>T (p.Arg61Ter)	SLC25A21 (R61*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1917979	NM_030631.4(SLC25A21):c.174C>T (p.Asp58=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390943	NM_030631.4(SLC25A21):c.168G>C (p.Leu56Phe)	SLC25A21 (L56F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1647086	NM_030631.4(SLC25A21):c.145G>A (p.Asp49Asn)	SLC25A21 (D49N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1432809	NM_030631.4(SLC25A21):c.142A>G (p.Thr48Ala)	SLC25A21 (T48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713299	NM_030631.4(SLC25A21):c.135A>G (p.Arg45=)	SLC25A21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991767	NM_030631.4(SLC25A21):c.119+11G>A	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906880	NM_030631.4(SLC25A21):c.119+6G>T	SLC25A21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1613789	NM_030631.4(SLC25A21):c.97C>T (p.Pro33Ser)	SLC25A21 (P33S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1652040	NM_030631.4(SLC25A21):c.76G>T (p.Val26Leu)	SLC25A21 (V26L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3021700	NM_030631.4(SLC25A21):c.71-18_71-17insC	SLC25A21	Insertion (intron variant)	not provided	GLikely benign
Select item 2990373	NM_030631.4(SLC25A21):c.71-20_71-17del	SLC25A21	Deletion (intron variant)	not provided	GLikely benign
Select item 3021701	NM_030631.4(SLC25A21):c.71-20T>C	SLC25A21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1332982	NM_030631.4(SLC25A21):c.71-21_71-20insC	SLC25A21	Insertion (intron variant)	not provided +1 more	GBenign
Select item 1600313	NM_030631.4(SLC25A21):c.71-144799T>C	SLC25A21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1939440	NM_030631.4(SLC25A21):c.70+15C>T	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3011104	NM_030631.4(SLC25A21):c.70+9A>G	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2751917	NM_030631.4(SLC25A21):c.62G>C (p.Gly21Ala)	SLC25A21, SLC25A21-AS1 (G21A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2144785	NM_030631.4(SLC25A21):c.52G>T (p.Val18Leu)	SLC25A21, SLC25A21-AS1 (V18L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1928750	NM_030631.4(SLC25A21):c.51C>G (p.Ile17Met)	SLC25A21, SLC25A21-AS1 (I17M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3011673	NM_030631.4(SLC25A21):c.38C>T (p.Ala13Val)	SLC25A21, SLC25A21-AS1 (A13V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2956627	NM_030631.4(SLC25A21):c.15T>C (p.Pro5=)	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3021154	NM_030631.4(SLC25A21):c.6C>T (p.Ser2=)	SLC25A21, SLC25A21-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2426936	NC_000014.8:g.(?_37198692)_(37203798_?)del	SLC25A21	Deletion	not provided	GUncertain significance
Select item 2426935	NC_000014.8:g.(?_37180503)_(37180707_?)del	SLC25A21	Deletion	not provided	GUncertain significance
Select item 2425522	NC_000014.8:g.(?_37145383)_(37641555_?)del	PAX9, SLC25A21	Deletion	Partial congenital absence of teeth	GUncertain significance
Select item 1450430	NC_000014.8:g.(?_37641466)_(37641555_?)del	SLC25A21	Deletion	not provided	GUncertain significance
Select item 1445235	NC_000014.8:g.(?_36986483)_(37228504_?)dup	NKX2-1, NKX2-8 +2 more	Duplication	not provided	GUncertain significance
Select item 1437871	NC_000014.8:g.(?_37283103)_(37344229_?)del	SLC25A21	Deletion	not provided	GUncertain significance

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Items: 95