ClinVar for Gene (Select 1763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250930	NM_001080449.3(DNA2):c.2955T>C (p.Asn985=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3250879	NM_001080449.3(DNA2):c.2044G>A (p.Val682Ile)	DNA2 (V682I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244960	NC_000010.10:g.(?_70176446)_(70192287_?)dup	DNA2	Duplication	not provided	GUncertain significance
Select item 3244958	NC_000010.10:g.(?_70225404)_(70231621_?)dup	DNA2	Duplication	not provided	GUncertain significance
Select item 3244957	NC_000010.10:g.(?_70204658)_(70206190_?)del	DNA2	Deletion	not provided	GUncertain significance
Select item 3244956	NC_000010.10:g.(?_70174796)_(70176632_?)del	DNA2	Deletion	not provided	GUncertain significance
Select item 3244955	NC_000010.10:g.(?_70206033)_(70206190_?)del	DNA2	Deletion	not provided	GUncertain significance
Select item 3235129	NM_001080449.3(DNA2):c.1963A>G (p.Thr655Ala)	DNA2 (T655A)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8	GPathogenic
Select item 3235127	NM_001080449.3:c.1764-38_1764-37insGAACCTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC	DNA2	Insertion	Seckel syndrome 8	GPathogenic
Select item 3233330	NM_001080449.3(DNA2):c.1982_1983del (p.Leu661fs)	DNA2 (L661fs)	Microsatellite (frameshift variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GUncertain significance
Select item 3083292	NM_001080449.3(DNA2):c.728A>T (p.Asp243Val)	DNA2 (D243V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083290	NM_001080449.3(DNA2):c.2750C>G (p.Ala917Gly)	DNA2 (A917G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083289	NM_001080449.3(DNA2):c.1924G>A (p.Asp642Asn)	DNA2 (D642N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083288	NM_001080449.3(DNA2):c.1760T>G (p.Val587Gly)	DNA2 (V587G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083287	NM_001080449.3(DNA2):c.1009A>G (p.Lys337Glu)	DNA2 (K337E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083286	NM_001080449.3(DNA2):c.1004A>G (p.Tyr335Cys)	DNA2 (Y335C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063916	NM_001080449.3(DNA2):c.74+17dup	DNA2	Duplication (intron variant)	not specified	GLikely benign
Select item 3063673	NM_001080449.3(DNA2):c.984_985insAA (p.Glu329fs)	DNA2 (E329fs)	Insertion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3061475	NM_001080449.3(DNA2):c.1221-9T>C	DNA2	Single nucleotide variant (intron variant)	DNA2-related disorder	GLikely benign
Select item 3054112	NM_001080449.3(DNA2):c.570A>T (p.Ile190=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	DNA2-related disorder	GLikely benign
Select item 3023715	NM_001080449.3(DNA2):c.1057+20A>T	DNA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3022451	NM_001080449.3(DNA2):c.1258A>G (p.Ile420Val)	DNA2 (I420V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020896	NM_001080449.3(DNA2):c.2577C>A (p.Asn859Lys)	DNA2 (N859K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3020893	NM_001080449.3(DNA2):c.1220+7A>T	DNA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3017712	NM_001080449.3(DNA2):c.1202A>G (p.Asn401Ser)	DNA2 (N401S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3015474	NM_001080449.3(DNA2):c.1682G>A (p.Arg561Lys)	DNA2 (R561K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014643	NM_001080449.3(DNA2):c.325A>G (p.Ile109Val)	DNA2 (I109V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009071	NM_001080449.3(DNA2):c.505G>T (p.Ala169Ser)	DNA2 (A169S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007854	NM_001080449.3(DNA2):c.2586C>G (p.His862Gln)	DNA2 (H862Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007804	NM_001080449.3(DNA2):c.2652A>C (p.Gly884=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007366	NM_001080449.3(DNA2):c.2829C>T (p.Tyr943=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	DNA2-related disorder +1 more	GLikely benign
Select item 3005951	NM_001080449.3(DNA2):c.1873+15C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005669	NM_001080449.3(DNA2):c.530A>T (p.Glu177Val)	DNA2 (E177V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005095	NM_001080449.3(DNA2):c.440G>C (p.Arg147Thr)	DNA2 (R147T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3001053	NM_001080449.3(DNA2):c.2171A>G (p.Lys724Arg)	DNA2 (K724R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995979	NM_001080449.3(DNA2):c.480G>A (p.Thr160=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992363	NM_001080449.3(DNA2):c.1058-5dup	DNA2	Duplication (intron variant)	not provided	GLikely benign
Select item 2991298	NM_001080449.3(DNA2):c.1127A>G (p.Gln376Arg)	DNA2 (Q376R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989933	NM_001080449.3(DNA2):c.147G>A (p.Val49=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986908	NM_001080449.3(DNA2):c.2331T>C (p.Phe777=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986464	NM_001080449.3(DNA2):c.147G>T (p.Val49=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	DNA2-related disorder +1 more	GLikely benign
Select item 2985833	NM_001080449.3(DNA2):c.3044G>A (p.Gly1015Glu)	DNA2 (G1015E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983539	NM_001080449.3(DNA2):c.1584T>G (p.Phe528Leu)	DNA2 (F528L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983206	NM_001080449.3(DNA2):c.1105A>G (p.Ile369Val)	DNA2 (I369V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983152	NM_001080449.3(DNA2):c.1057+19T>C	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982443	NM_001080449.3(DNA2):c.587+18_587+20del	DNA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2981553	NM_001080449.3(DNA2):c.2305C>G (p.Gln769Glu)	DNA2 (Q769E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980928	NM_001080449.3(DNA2):c.1803T>C (p.Pro601=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980422	NM_001080449.3(DNA2):c.1031T>C (p.Val344Ala)	DNA2 (V344A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977472	NM_001080449.3(DNA2):c.1058-6T>C	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977462	NM_001080449.3(DNA2):c.1757T>G (p.Phe586Cys)	DNA2 (F586C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977010	NM_001080449.3(DNA2):c.2102A>G (p.Gln701Arg)	DNA2 (Q701R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974961	NM_001080449.3(DNA2):c.2242C>A (p.His748Asn)	DNA2 (H748N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974908	NM_001080449.3(DNA2):c.1965A>G (p.Thr655=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974569	NM_001080449.3(DNA2):c.2427A>G (p.Leu809=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973462	NM_001080449.3(DNA2):c.393C>G (p.Ala131=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973428	NM_001080449.3(DNA2):c.1874-12A>G	DNA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2972311	NM_001080449.3(DNA2):c.2697+17_2697+18del	DNA2	Deletion (intron variant)	not provided	GLikely benign
Select item 2971735	NM_001080449.3(DNA2):c.263C>T (p.Ser88Phe)	DNA2 (S88F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969634	NM_001080449.3(DNA2):c.2788-18G>T	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969372	NM_001080449.3(DNA2):c.27G>C (p.Leu9=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967953	NM_001080449.3(DNA2):c.442-19G>A	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966410	NM_001080449.3(DNA2):c.2958G>C (p.Lys986Asn)	DNA2 (K986N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964817	NM_001080449.3(DNA2):c.845T>C (p.Val282Ala)	DNA2 (V282A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963269	NM_001080449.3(DNA2):c.2404G>A (p.Ala802Thr)	DNA2 (A802T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960971	NM_001080449.3(DNA2):c.1175C>G (p.Thr392Ser)	DNA2 (T392S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959493	NM_001080449.3(DNA2):c.74+17G>A	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959308	NM_001080449.3(DNA2):c.955C>A (p.Leu319Ile)	DNA2 (L319I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958435	NM_001080449.3(DNA2):c.2167A>G (p.Ile723Val)	DNA2 (I723V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958158	NM_001080449.3(DNA2):c.1368T>C (p.Asp456=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958004	NM_001080449.3(DNA2):c.3026A>G (p.His1009Arg)	DNA2 (H1009R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2955242	NM_001080449.3(DNA2):c.551T>C (p.Phe184Ser)	DNA2 (F184S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2917584	NM_001080449.3(DNA2):c.938A>G (p.Gln313Arg)	DNA2 (Q313R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2912411	NM_001080449.3(DNA2):c.1753dup (p.Thr585fs)	DNA2 (T585fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2910242	NM_001080449.3(DNA2):c.2862G>C (p.Leu954Phe)	DNA2 (L954F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908777	NM_001080449.3(DNA2):c.537A>G (p.Leu179=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907397	NM_001080449.3(DNA2):c.74+4A>C	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2904976	NM_001080449.3(DNA2):c.2935G>A (p.Val979Ile)	DNA2 (V979I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2904284	NM_001080449.3(DNA2):c.2996G>A (p.Arg999His)	DNA2 (R999H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2902762	NM_001080449.3(DNA2):c.2369A>T (p.Gln790Leu)	DNA2 (Q790L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901480	NM_001080449.3(DNA2):c.217T>A (p.Ser73Thr)	DNA2 (S73T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901131	NM_001080449.3(DNA2):c.303A>G (p.Gly101=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900814	NM_001080449.3(DNA2):c.1680C>T (p.Phe560=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899469	NM_001080449.3(DNA2):c.1457A>G (p.Glu486Gly)	DNA2 (E486G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896644	NM_001080449.3(DNA2):c.136C>T (p.Arg46Trp)	DNA2 (R46W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2895163	NM_001080449.3(DNA2):c.2272T>G (p.Phe758Val)	DNA2 (F758V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895162	NM_001080449.3(DNA2):c.2286T>G (p.Asp762Glu)	DNA2 (D762E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892939	NM_001080449.3(DNA2):c.2993G>A (p.Arg998Gln)	DNA2 (R998Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2891672	NM_001080449.3(DNA2):c.2256C>G (p.Ser752=)	DNA2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2886482	NM_001080449.3(DNA2):c.2617T>C (p.Tyr873His)	DNA2 (Y873H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2885310	NM_001080449.3(DNA2):c.2844G>T (p.Lys948Asn)	DNA2 (K948N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2882526	NM_001080449.3(DNA2):c.2855A>G (p.Asp952Gly)	DNA2 (D952G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2881523	NM_001080449.3(DNA2):c.720-6_720-4dup	DNA2	Duplication (intron variant)	not provided	GBenign
Select item 2879508	NM_001080449.3(DNA2):c.2173T>G (p.Ser725Ala)	DNA2 (S725A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2878696	NM_001080449.3(DNA2):c.2949A>G (p.Arg983=)	DNA2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2877988	NM_001080449.3(DNA2):c.3114+12C>A	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876842	NM_001080449.3(DNA2):c.1233A>G (p.Gln411=)	DNA2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2876026	NM_001080449.3(DNA2):c.2400A>G (p.Ala800=)	DNA2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2874693	NM_001080449.3(DNA2):c.1160T>C (p.Ile387Thr)	DNA2 (I387T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874356	NM_001080449.3(DNA2):c.1763G>A (p.Ser588Asn)	DNA2 (S588N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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