ClinVar for MedGen (Select 413170) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2999715	NM_003850.3(SUCLA2):c.570C>G (p.Val190=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2998941	NM_003850.3(SUCLA2):c.1317+9G>T	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2996581	NM_003850.3(SUCLA2):c.345C>T (p.Leu115=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2989525	NM_003850.3(SUCLA2):c.1228+15T>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2976475	NM_003850.3(SUCLA2):c.675G>A (p.Lys225=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2962817	NM_003850.3(SUCLA2):c.271+13G>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2960338	NM_003850.3(SUCLA2):c.315T>C (p.Gly105=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2900095	NM_003850.3(SUCLA2):c.1107+11G>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2875311	NM_003850.3(SUCLA2):c.272-18G>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2874127	NM_003850.3(SUCLA2):c.186ATT[1] (p.Leu64del)	SUCLA2 (L64del)	Microsatellite (inframe_deletion)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2873018	NM_003850.3(SUCLA2):c.1332T>C (p.Ser444=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2870639	NM_003850.3(SUCLA2):c.418T>C (p.Leu140=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2813869	NM_003850.3(SUCLA2):c.1188A>G (p.Lys396=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2810501	NM_003850.3(SUCLA2):c.768A>G (p.Glu256=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2802656	NM_003850.3(SUCLA2):c.1108-4A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2787573	NM_003850.3(SUCLA2):c.627T>C (p.Asp209=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2785698	NM_003850.3(SUCLA2):c.1318-11T>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2780163	NM_003850.3(SUCLA2):c.1209T>A (p.Pro403=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2758509	NM_003850.3(SUCLA2):c.1330T>C (p.Ser444Pro)	SUCLA2 (S444P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2733560	NM_003850.3(SUCLA2):c.285C>T (p.Val95=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2732365	NM_003850.3(SUCLA2):c.27G>A (p.Arg9=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2728455	NM_003850.3(SUCLA2):c.18C>T (p.Phe6=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2723571	NM_003850.3(SUCLA2):c.190T>C (p.Leu64=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2722940	NM_003850.3(SUCLA2):c.965-6A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2722603	NM_003850.3(SUCLA2):c.1318-10T>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2719917	NM_003850.3(SUCLA2):c.1248T>A (p.Ala416=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2719612	NM_003850.3(SUCLA2):c.1108-9T>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GLikely benign
Select item 2716535	NM_003850.3(SUCLA2):c.852C>T (p.Arg284=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2708944	NM_003850.3(SUCLA2):c.1108-1G>A	SUCLA2	Single nucleotide variant (splice acceptor variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely pathogenic
Select item 2704804	NM_003850.3(SUCLA2):c.90+14del	LOC130009747, SUCLA2	Deletion (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2690169	NM_003850.3(SUCLA2):c.442A>G (p.Lys148Glu)	SUCLA2 (K148E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2444289	NM_003850.3(SUCLA2):c.964+1G>A	SUCLA2	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GPathogenic
Select item 2436520	NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val)	SUCLA2 (I381V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2436519	NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr)	SUCLA2 (C152Y)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2424780	NC_000013.10:g.(?_48517506)_(49070513_?)dup	ITM2B, LPAR6 +5 more	Duplication	not provided	GUncertain significance
Select item 2424779	NC_000013.10:g.(?_48562656)_(48575405_?)del	SUCLA2	Deletion	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GPathogenic
Select item 2416761	NM_003850.3(SUCLA2):c.952A>G (p.Ile318Val)	SUCLA2 (I318V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2413901	NM_003850.3(SUCLA2):c.556T>C (p.Ser186Pro)	SUCLA2 (S186P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2413890	NM_003850.3(SUCLA2):c.749A>G (p.Tyr250Cys)	SUCLA2 (Y250C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2199121	NM_003850.3(SUCLA2):c.1318-15G>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2199085	NM_003850.3(SUCLA2):c.1365G>A (p.Val455=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2198084	NM_003850.3(SUCLA2):c.1229-15A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2197752	NM_003850.3(SUCLA2):c.147G>C (p.Gln49His)	SUCLA2 (Q49H)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2196389	NM_003850.3(SUCLA2):c.620C>G (p.Pro207Arg)	SUCLA2 (P207R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2195759	NM_003850.3(SUCLA2):c.209C>T (p.Ser70Phe)	SUCLA2 (S70F)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2194782	NM_003850.3(SUCLA2):c.285C>A (p.Val95=)	SUCLA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2188999	NM_003850.3(SUCLA2):c.285_287del (p.Val96del)	SUCLA2 (V96del)	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2184567	NM_003850.3(SUCLA2):c.90+7C>A	LOC130009747, SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2157121	NM_003850.3(SUCLA2):c.217A>G (p.Lys73Glu)	SUCLA2 (K73E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2155671	NM_003850.3(SUCLA2):c.13A>G (p.Met5Val)	SUCLA2 (M5V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2155580	NM_003850.3(SUCLA2):c.1143C>T (p.Ile381=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2151246	NM_003850.3(SUCLA2):c.1240G>A (p.Asp414Asn)	SUCLA2 (D414N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2151043	NM_003850.3(SUCLA2):c.965-20_965-16del	SUCLA2	Deletion (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2141564	NM_003850.3(SUCLA2):c.900G>A (p.Arg300=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GLikely benign
Select item 2137491	NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)	SUCLA2 (D333G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GPathogenic/Likely pathogenic
Select item 2127356	NM_003850.3(SUCLA2):c.21C>G (p.Tyr7Ter)	SUCLA2 (Y7*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GPathogenic
Select item 2125089	NM_003850.3(SUCLA2):c.1229-11A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2120486	NM_003850.3(SUCLA2):c.1318-12C>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2117856	NM_003850.3(SUCLA2):c.802+18G>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2116958	NM_003850.3(SUCLA2):c.803-14T>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2114394	NM_003850.3(SUCLA2):c.54C>A (p.Asn18Lys)	LOC130009747, SUCLA2 (N18K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2110355	NM_003850.3(SUCLA2):c.890A>G (p.Glu297Gly)	SUCLA2 (E297G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2107408	NM_003850.3(SUCLA2):c.1099G>T (p.Asp367Tyr)	SUCLA2 (D367Y)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2090470	NM_003850.3(SUCLA2):c.494G>A (p.Arg165Lys)	SUCLA2 (R165K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2089558	NM_003850.3(SUCLA2):c.569T>G (p.Val190Gly)	SUCLA2 (V190G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2081613	NM_003850.3(SUCLA2):c.802+8A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2074825	NM_003850.3(SUCLA2):c.90+6G>A	LOC130009747, SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2061824	NM_003850.3(SUCLA2):c.203G>T (p.Gly68Val)	SUCLA2 (G68V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2054429	NM_003850.3(SUCLA2):c.391G>T (p.Val131Phe)	SUCLA2 (V131F)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2053036	NM_003850.3(SUCLA2):c.1228+8T>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2051793	NM_003850.3(SUCLA2):c.286G>A (p.Val96Met)	SUCLA2 (V96M)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2050304	NM_003850.3(SUCLA2):c.663+16G>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2047977	NM_003850.3(SUCLA2):c.1251G>A (p.Lys417=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2047684	NM_003850.3(SUCLA2):c.272-17A>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2045984	NM_003850.3(SUCLA2):c.32T>C (p.Val11Ala)	SUCLA2 (V11A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2042959	NM_003850.3(SUCLA2):c.272-20T>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2041866	NM_003850.3(SUCLA2):c.272-8T>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2026363	NM_003850.3(SUCLA2):c.663+14C>T	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2024493	NM_003850.3(SUCLA2):c.271+16A>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2019435	NM_003850.3(SUCLA2):c.664-12T>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2018807	NM_003850.3(SUCLA2):c.802+10C>T	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2017379	NM_003850.3(SUCLA2):c.466T>C (p.Leu156=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2012278	NM_003850.3(SUCLA2):c.828T>G (p.Asn276Lys)	SUCLA2 (N276K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2008146	NM_003850.3(SUCLA2):c.1229-9C>A	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2007133	NM_003850.3(SUCLA2):c.1087C>G (p.Leu363Val)	SUCLA2 (L363V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2000820	NM_003850.3(SUCLA2):c.271+5T>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2000752	NM_003850.3(SUCLA2):c.1107+7G>C	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1999560	NM_003850.3(SUCLA2):c.437G>A (p.Gly146Glu)	SUCLA2 (G146E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1998830	NM_003850.3(SUCLA2):c.1289G>C (p.Cys430Ser)	SUCLA2 (C430S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1996320	NM_003850.3(SUCLA2):c.1107+19A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1993114	NM_003850.3(SUCLA2):c.960C>T (p.Cys320=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1992408	NM_003850.3(SUCLA2):c.547_549del (p.Ile183del)	SUCLA2 (I183del)	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1991719	NM_003850.3(SUCLA2):c.205G>T (p.Val69Phe)	SUCLA2 (V69F)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1991314	NM_003850.3(SUCLA2):c.953T>C (p.Ile318Thr)	SUCLA2 (I318T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1984949	NM_003850.3(SUCLA2):c.28C>T (p.Leu10=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1984677	NM_003850.3(SUCLA2):c.664-7A>T	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1981776	NM_003850.3(SUCLA2):c.699G>T (p.Val233=)	SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1978897	NM_003850.3(SUCLA2):c.69G>A (p.Thr23=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1972474	NM_003850.3(SUCLA2):c.1055C>T (p.Ala352Val)	SUCLA2 (A352V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1969754	NM_003850.3(SUCLA2):c.965-20A>G	SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance

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