ClinVar for MedGen (Select 413116) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248291	NC_000020.10:g.(?_35555565)_(35555675_?)dup	SAMHD1	Duplication	Aicardi-Goutieres syndrome 5	GLikely pathogenic
Select item 3248290	NC_000020.10:g.(?_35532540)_(35547942_?)del	SAMHD1	Deletion	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 3248288	NC_000020.10:g.(?_35547747)_(35555675_?)del	SAMHD1	Deletion	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 3248287	NC_000020.10:g.(?_35569422)_(35575227_?)del	SAMHD1	Deletion	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 3248286	NC_000020.11:g.(?_36904137)_(36912572_?)del	SAMHD1	Deletion	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 3248285	NC_000020.10:g.(?_35559143)_(35559298_?)del	SAMHD1	Deletion	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 3023930	NM_015474.4(SAMHD1):c.225C>A (p.Gly75=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 3018405	NM_015474.4(SAMHD1):c.1270+20A>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 3015468	NM_015474.4(SAMHD1):c.1389A>G (p.Thr463=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 3014988	NM_015474.4(SAMHD1):c.141G>A (p.Pro47=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 3014367	NM_015474.4(SAMHD1):c.852+17C>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 3009997	NM_015474.4(SAMHD1):c.56del (p.Pro19fs)	SAMHD1 (P19fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 3008295	NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)	SAMHD1 (Y419*)	Duplication (nonsense)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 3004844	NM_015474.4(SAMHD1):c.1271-14C>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 3002640	NM_015474.4(SAMHD1):c.282G>A (p.Leu94=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2995678	NM_015474.4(SAMHD1):c.1503+15C>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2995362	NM_015474.4(SAMHD1):c.1271-18A>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2992925	NM_015474.4(SAMHD1):c.349-11T>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2992511	NM_015474.4(SAMHD1):c.852+1G>A	SAMHD1	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 5	GLikely pathogenic
Select item 2990318	NM_015474.4(SAMHD1):c.208+18G>A	LOC130065805, SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2989376	NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)	SAMHD1 (R318K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2981027	NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)	SAMHD1 (W32R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2978847	NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)	SAMHD1 (K288fs)	Microsatellite (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2969318	NM_015474.4(SAMHD1):c.1324C>A (p.Arg442=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2967455	NM_015474.4(SAMHD1):c.696+17T>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2966387	NM_015474.4(SAMHD1):c.287del (p.Glu96fs)	SAMHD1 (E96fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2964280	NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)	SAMHD1 (Y155*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2963011	NM_015474.4(SAMHD1):c.1410+12G>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2962442	NM_015474.4(SAMHD1):c.349-18_349-15del	SAMHD1	Microsatellite (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2958191	NM_015474.4(SAMHD1):c.208+16G>T	LOC130065805, SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2920006	NM_015474.4(SAMHD1):c.1746+17_1746+20del	SAMHD1	Deletion (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2918655	NM_015474.4(SAMHD1):c.1503+16A>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2916915	NM_015474.4(SAMHD1):c.696+20A>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2916367	NM_015474.4(SAMHD1):c.1504-11C>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2912755	NM_015474.4(SAMHD1):c.532C>T (p.Leu178=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2911809	NM_015474.4(SAMHD1):c.1063-13T>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2911749	NM_015474.4(SAMHD1):c.384C>G (p.Leu128=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2911432	NM_015474.4(SAMHD1):c.1521T>C (p.Tyr507=)	SAMHD1	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2911016	NM_015474.4(SAMHD1):c.513G>A (p.Val171=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2909145	NM_015474.4(SAMHD1):c.1063-16T>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2906740	NM_015474.4(SAMHD1):c.1411-11G>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2904414	NM_015474.4(SAMHD1):c.349-16A>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2903720	NM_015474.4(SAMHD1):c.1038G>A (p.Glu346=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2900153	NM_015474.4(SAMHD1):c.1503+11A>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2891268	NM_015474.4(SAMHD1):c.1063-15C>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2890316	NM_015474.4(SAMHD1):c.1155-8A>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2887143	NM_015474.4(SAMHD1):c.1609-11A>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2886360	NM_015474.4(SAMHD1):c.1161A>G (p.Thr387=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2884105	NM_015474.4(SAMHD1):c.276-13A>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2880261	NM_015474.4(SAMHD1):c.75C>T (p.Thr25=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2868340	NM_015474.4(SAMHD1):c.1380G>T (p.Thr460=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2867854	NM_015474.4(SAMHD1):c.1701A>G (p.Gln567=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2866090	NM_015474.4(SAMHD1):c.1293A>G (p.Leu431=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2865728	NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)	SAMHD1 (W285*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2864419	NM_015474.4(SAMHD1):c.953+19T>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2863926	NM_015474.4(SAMHD1):c.102G>T (p.Pro34=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2859750	NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)	SAMHD1 (S283*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2858017	NM_015474.4(SAMHD1):c.141G>C (p.Pro47=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2857754	NM_015474.4(SAMHD1):c.81C>A (p.Ser27=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2857253	NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)	SAMHD1 (F316fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2856053	NM_015474.4(SAMHD1):c.297G>A (p.Lys99=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2855357	NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)	SAMHD1	Deletion (nonsense)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2853824	NM_015474.4(SAMHD1):c.555A>G (p.Lys185=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2851359	NM_015474.4(SAMHD1):c.498G>A (p.Glu166=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2849165	NM_015474.4(SAMHD1):c.1365G>A (p.Lys455=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2846442	NM_015474.4(SAMHD1):c.625+17G>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2846065	NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)	SAMHD1 (A160fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2841108	NM_015474.4(SAMHD1):c.1063-7C>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2839914	NM_015474.4(SAMHD1):c.208+13G>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2838205	NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)	SAMHD1 (S503fs +1 more)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2837898	NM_015474.4(SAMHD1):c.696+10C>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2835644	NM_015474.4(SAMHD1):c.1482G>A (p.Lys494=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2835028	NM_015474.4(SAMHD1):c.1062+14G>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2834697	NM_015474.4(SAMHD1):c.84A>G (p.Ala28=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2834524	NM_015474.4(SAMHD1):c.853-1G>C	SAMHD1	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 5	GLikely pathogenic
Select item 2834452	NM_015474.4(SAMHD1):c.480T>G (p.Ala160=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2832598	NM_015474.4(SAMHD1):c.1411-19G>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2832064	NM_015474.4(SAMHD1):c.1154+12G>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2829280	NM_015474.4(SAMHD1):c.209-18G>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2825887	NM_015474.4(SAMHD1):c.696+2T>C	SAMHD1	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 5	GLikely pathogenic
Select item 2825419	NM_015474.4(SAMHD1):c.954-17T>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2824699	NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2824150	NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)	SAMHD1 (E443D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2821848	NM_015474.4(SAMHD1):c.1410+9T>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2819416	NM_015474.4(SAMHD1):c.1581C>T (p.Asn527=)	SAMHD1	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2817705	NM_015474.4(SAMHD1):c.276-9T>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2817519	NM_080628.3(TLDC2):c.*237G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2816002	NM_080628.3(TLDC2):c.*230G>C	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2811539	NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)	SAMHD1 (F390fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2808495	NM_015474.4(SAMHD1):c.1062+12C>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2807013	NM_015474.4(SAMHD1):c.509+17G>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2806042	NM_015474.4(SAMHD1):c.1173C>T (p.Leu391=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2804766	NM_015474.4(SAMHD1):c.209-17T>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2794901	NM_015474.4(SAMHD1):c.1410+1G>A	SAMHD1	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 5	GLikely pathogenic
Select item 2790318	NM_015474.4(SAMHD1):c.1608+20A>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2787436	NM_015474.4(SAMHD1):c.15T>C (p.Asp5=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2783371	NM_015474.4(SAMHD1):c.1053T>G (p.Ala351=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2778077	NM_015474.4(SAMHD1):c.625+12A>G	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2775768	NM_015474.4(SAMHD1):c.779del (p.Ile260fs)	SAMHD1 (I260fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 2775656	NM_015474.4(SAMHD1):c.1734C>T (p.Phe578=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign

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