ClinVar for Gene (Select 8803) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362011	NM_003850.3(SUCLA2):c.700G>C (p.Glu234Gln)	SUCLA2 (E234Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3323515	NM_003850.3(SUCLA2):c.46C>G (p.Leu16Val)	LOC130009747, SUCLA2 (L16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252235	NM_003850.3(SUCLA2):c.1106dup (p.Val370fs)	SUCLA2 (V370fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3244222	NC_000013.10:g.(?_48570958)_(48830539_?)del	ITM2B, MED4 +2 more	Deletion	not provided	GUncertain significance
Select item 3244193	NC_000013.10:g.(?_48517506)_(48517600_?)del	SUCLA2	Deletion	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 3244192	NC_000013.10:g.(?_48517506)_(48575405_?)del	SUCLA2	Deletion	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GPathogenic
Select item 3244122	NC_000013.10:g.(?_48517506)_(49039524_?)del	ITM2B, LPAR6 +4 more	Deletion	Retinoblastoma	GPathogenic
Select item 3171923	NM_003850.3(SUCLA2):c.646A>G (p.Lys216Glu)	SUCLA2 (K216E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171922	NM_003850.3(SUCLA2):c.463G>A (p.Val155Ile)	SUCLA2 (V155I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171920	NM_003850.3(SUCLA2):c.11C>A (p.Ser4Tyr)	SUCLA2 (S4Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171919	NM_003850.3(SUCLA2):c.102T>A (p.Ser34Arg)	SUCLA2 (S34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171918	NM_003850.3(SUCLA2):c.1001T>C (p.Ile334Thr)	SUCLA2 (I334T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3054572	NM_003850.3(SUCLA2):c.990C>A (p.Ala330=)	SUCLA2	Single nucleotide variant (synonymous variant)	SUCLA2-related disorder	GLikely benign
Select item 3054377	NM_003850.3(SUCLA2):c.993A>C (p.Thr331=)	SUCLA2	Single nucleotide variant (synonymous variant)	SUCLA2-related disorder	GLikely benign
Select item 3053960	NM_003850.3(SUCLA2):c.1002A>C (p.Ile334=)	SUCLA2	Single nucleotide variant (synonymous variant)	SUCLA2-related disorder	GLikely benign
Select item 3051312	NM_003850.3(SUCLA2):c.1017A>C (p.Gly339=)	SUCLA2	Single nucleotide variant (synonymous variant)	SUCLA2-related disorder	GLikely benign
Select item 3048783	NM_003850.3(SUCLA2):c.225T>C (p.Tyr75=)	SUCLA2	Single nucleotide variant (synonymous variant)	SUCLA2-related disorder	GLikely benign
Select item 3046217	NM_003850.3(SUCLA2):c.1020G>T (p.Gly340=)	SUCLA2	Single nucleotide variant (synonymous variant)	SUCLA2-related disorder	GLikely benign
Select item 3045239	NM_003850.3(SUCLA2):c.1011T>A (p.Leu337=)	SUCLA2	Single nucleotide variant (synonymous variant)	SUCLA2-related disorder	GLikely benign
Select item 3044991	NM_003850.3(SUCLA2):c.1029C>A (p.Ala343=)	SUCLA2	Single nucleotide variant (synonymous variant)	SUCLA2-related disorder	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	DNAJC15, EBPL +119 more	Copy number loss	not provided	GPathogenic
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	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 2663528	NM_003850.3(SUCLA2):c.77G>A (p.Arg26Gln)	LOC130009747, SUCLA2 (R26Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629256	NM_003850.3(SUCLA2):c.2T>C (p.Met1Thr)	SUCLA2 (M1T)	Single nucleotide variant (missense variant +1 more)	SUCLA2-related disorder	GUncertain significance
Select item 2616239	NM_003850.3(SUCLA2):c.766G>C (p.Glu256Gln)	SUCLA2 (E256Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570863	NM_003850.3(SUCLA2):c.272-2559G>C	SUCLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2497801	NM_003850.3(SUCLA2):c.763A>G (p.Ile255Val)	SUCLA2 (I255V)	Single nucleotide variant (missense variant)	not provided	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 2443636	NM_003850.3(SUCLA2):c.338G>A (p.Ser113Asn)	SUCLA2 (S113N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +1 more	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 2313736	NM_003850.3(SUCLA2):c.337A>C (p.Ser113Arg)	SUCLA2 (S113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309505	NM_003850.3(SUCLA2):c.673A>G (p.Lys225Glu)	SUCLA2 (K225E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262984	NM_003850.3(SUCLA2):c.490A>G (p.Arg164Gly)	SUCLA2 (R164G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238778	NM_003850.3(SUCLA2):c.704C>T (p.Ser235Leu)	SUCLA2 (S235L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205547	NM_003850.3(SUCLA2):c.917A>G (p.Lys306Arg)	SUCLA2 (K306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	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

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