DNA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 1710084	NC_000010.11:g.68413754_68420303del	DNA2, LOC132089842 +1 more	Deletion	Rothmund-Thomson syndrome	GPathogenic
Select item 1191352	NM_001080449.3(DNA2):c.*202del	DNA2	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1182638	NM_001080449.3(DNA2):c.*89A>T	DNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2106903	NM_001080449.3(DNA2):c.3161del (p.Leu1054fs)	LOC132089842, DNA2 (L1054fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1511881	NM_001080449.3(DNA2):c.3157A>G (p.Ile1053Val)	DNA2, LOC132089842 (I1053V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477835	NM_001080449.3(DNA2):c.3137A>G (p.Glu1046Gly)	DNA2, LOC132089842 (E1046G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700971	NM_001080449.3(DNA2):c.3122A>G (p.Asp1041Gly)	DNA2, LOC132089842 (D1041G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2693502	NM_001080449.3(DNA2):c.3117C>A (p.Ile1039=)	DNA2, LOC132089842	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2818215	NM_001080449.3(DNA2):c.3115-19C>T	DNA2, LOC132089842	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292160	NM_001080449.3(DNA2):c.3115-21T>C	DNA2, LOC132089842	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278246	NM_001080449.3(DNA2):c.3115-99del	DNA2, LOC132089842	Deletion (intron variant)	not provided	GBenign
Select item 1273839	NM_001080449.3(DNA2):c.3115-169del	DNA2	Deletion (intron variant)	not provided	GBenign
Select item 683745	NM_001080449.3(DNA2):c.3114+307C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2877988	NM_001080449.3(DNA2):c.3114+12C>A	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927784	NM_001080449.3(DNA2):c.3114+11dup	DNA2	Duplication (intron variant)	not provided	GBenign
Select item 143932	NM_001080449.3(DNA2):c.3114+6del	DNA2	Deletion (intron variant)	Seckel syndrome 8 +1 more	GPathogenic/Likely pathogenic
Select item 1993110	NM_001080449.3(DNA2):c.3111A>G (p.Lys1037=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1879133	NM_001080449.3(DNA2):c.3099A>G (p.Leu1033=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811290	NM_001080449.3(DNA2):c.3096T>C (p.His1032=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2007009	NM_001080449.3(DNA2):c.3091A>G (p.Asn1031Asp)	DNA2 (N1031D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640526	NM_001080449.3(DNA2):c.3087G>C (p.Leu1029=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 509310	NM_001080449.3(DNA2):c.3087G>A (p.Leu1029=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2440890	NM_001080449.3(DNA2):c.3084G>T (p.Lys1028Asn)	DNA2 (K1028N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2699562	NM_001080449.3(DNA2):c.3074C>T (p.Pro1025Leu)	DNA2 (P1025L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2195380	NM_001080449.3(DNA2):c.3070C>T (p.Pro1024Ser)	DNA2 (P1024S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836679	NM_001080449.3(DNA2):c.3068A>C (p.Tyr1023Ser)	DNA2 (Y1023S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2040913	NM_001080449.3(DNA2):c.3062A>G (p.Asn1021Ser)	DNA2 (N1021S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578140	NM_001080449.3(DNA2):c.3059T>C (p.Leu1020Pro)	DNA2 (L1020P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2096373	NM_001080449.3(DNA2):c.3050_3051del (p.Val1017fs)	DNA2 (V1017fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
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 1406053	NM_001080449.3(DNA2):c.3037C>T (p.Leu1013Phe)	DNA2 (L1013F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783163	NM_001080449.3(DNA2):c.3032T>G (p.Leu1011Arg)	DNA2 (L1011R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 522960	NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile)	DNA2 (T1005I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GLikely pathogenic
Select item 1917140	NM_001080449.3(DNA2):c.3007G>T (p.Ala1003Ser)	DNA2 (A1003S)	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 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 2427996	NM_001080449.3(DNA2):c.2992C>T (p.Arg998Ter)	DNA2 (R998*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 736242	NM_001080449.3(DNA2):c.2979C>A (p.Leu993=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2119494	NM_001080449.3(DNA2):c.2977C>G (p.Leu993Val)	DNA2 (L993V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418605	NM_001080449.3(DNA2):c.2972G>T (p.Gly991Val)	DNA2 (G991V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2071501	NM_001080449.3(DNA2):c.2971G>A (p.Gly991Ser)	DNA2 (G991S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 673710	NM_001080449.3(DNA2):c.2968-269C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676208	NM_001080449.3(DNA2):c.2967+70G>A	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1975746	NM_001080449.3(DNA2):c.2967+16T>C	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1365668	NM_001080449.3(DNA2):c.2967T>C (p.Thr989=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2694943	NM_001080449.3(DNA2):c.2965A>C (p.Thr989Pro)	DNA2 (T989P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069714	NM_001080449.3(DNA2):c.2965A>G (p.Thr989Ala)	DNA2 (T989A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915591	NM_001080449.3(DNA2):c.2964A>C (p.Gly988=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1721752	NM_001080449.3(DNA2):c.2960A>G (p.Asp987Gly)	DNA2 (D987G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925938	NM_001080449.3(DNA2):c.2959G>A (p.Asp987Asn)	DNA2 (D987N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2760103	NM_001080449.3(DNA2):c.2958G>A (p.Lys986=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2106109	NM_001080449.3(DNA2):c.2957A>G (p.Lys986Arg)	DNA2 (K986R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1396438	NM_001080449.3(DNA2):c.2943del (p.Phe981fs)	DNA2 (F981fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 710444	NM_001080449.3(DNA2):c.2943T>C (p.Phe981=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 707950	NM_001080449.3(DNA2):c.2934A>C (p.Leu978=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2109548	NM_001080449.3(DNA2):c.2918A>G (p.Asp973Gly)	DNA2 (D973G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079256	NM_001080449.3(DNA2):c.2914A>G (p.Arg972Gly)	DNA2 (R972G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908269	NM_001080449.3(DNA2):c.2902A>G (p.Lys968Glu)	DNA2 (K968E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 806495	NM_001080449.3(DNA2):c.2898del (p.Asp967fs)	DNA2 (D967fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1946200	NM_001080449.3(DNA2):c.2891A>G (p.Asn964Ser)	DNA2 (N964S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1013283	NM_001080449.3(DNA2):c.2884G>A (p.Glu962Lys)	DNA2 (E962K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917626	NM_001080449.3(DNA2):c.2883C>A (p.Val961=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787745	NM_001080449.3(DNA2):c.2873T>C (p.Ile958Thr)	DNA2 (I958T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701136	NM_001080449.3(DNA2):c.2872A>G (p.Ile958Val)	DNA2 (I958V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1298488	NM_001080449.3(DNA2):c.2867G>A (p.Arg956His)	DNA2 (R956H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2168404	NM_001080449.3(DNA2):c.2866C>T (p.Arg956Cys)	DNA2 (R956C)	Single nucleotide variant (missense 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 1944084	NM_001080449.3(DNA2):c.2857T>A (p.Leu953Ile)	DNA2 (L953I)	Single nucleotide variant (missense 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 2772845	NM_001080449.3(DNA2):c.2852A>G (p.Asn951Ser)	DNA2 (N951S)	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 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 426652	NM_001080449.3(DNA2):c.2828A>T (p.Tyr943Phe)	DNA2 (Y943F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 508245	NM_001080449.3(DNA2):c.2826G>A (p.Pro942=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1524882	NM_001080449.3(DNA2):c.2825C>T (p.Pro942Leu)	DNA2 (P942L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093586	NM_001080449.3(DNA2):c.2824C>T (p.Pro942Ser)	DNA2 (P942S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010388	NM_001080449.3(DNA2):c.2820T>C (p.Ile940=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 450454	NM_001080449.3(DNA2):c.2815A>G (p.Ile939Val)	DNA2 (I939V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2842697	NM_001080449.3(DNA2):c.2788-16G>A	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969634	NM_001080449.3(DNA2):c.2788-18G>T	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673125	NM_001080449.3(DNA2):c.2788-156T>A	DNA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244604	NM_001080449.3(DNA2):c.2788-274TG[10]	DNA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1567951	NM_001080449.3(DNA2):c.2787+16C>T	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825930	NM_001080449.3(DNA2):c.2787+7T>C	DNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257344	NM_001080449.3(DNA2):c.2782G>A (p.Val928Ile)	DNA2 (V928I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2619801	NM_001080449.3(DNA2):c.2776A>G (p.Ile926Val)	DNA2 (I926V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2068236	NM_001080449.3(DNA2):c.2767C>T (p.Leu923=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2143419	NM_001080449.3(DNA2):c.2752A>G (p.Lys918Glu)	DNA2 (K918E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 445782	NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys)	DNA2 (Q905K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign

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