25939[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 338328	NM_080628.3(TLDC2):c.*18-938G>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign
Select item 897681	NM_080628.3(TLDC2):c.*18-812A>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897682	NM_080628.3(TLDC2):c.*18-801C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897683	NM_080628.3(TLDC2):c.*18-647C>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338329	NM_080628.3(TLDC2):c.*18-641T>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 898843	NM_080628.3(TLDC2):c.*18-578G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338330	NM_080628.3(TLDC2):c.*18-559G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign
Select item 338331	NM_080628.3(TLDC2):c.*18-466G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 898844	NM_080628.3(TLDC2):c.*18-435A>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338332	NM_080628.3(TLDC2):c.*18-433T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338333	NM_080628.3(TLDC2):c.*18-292C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338334	NM_080628.3(TLDC2):c.*18-218T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign
Select item 338335	NM_080628.3(TLDC2):c.*18-170C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 896157	NM_080628.3(TLDC2):c.*18-50G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign/Likely benign
Select item 896158	NM_080628.3(TLDC2):c.*18-34C>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338336	NM_080628.3(TLDC2):c.*18-25A>G	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 338337	NM_080628.3(TLDC2):c.*18-1G>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 338338	NM_080628.3(TLDC2):c.*28T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 338339	NM_080628.3(TLDC2):c.*43G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 5 +1 more	GBenign
Select item 1982881	NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)	SAMHD1, TLDC2 (M626K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2164165	NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)	SAMHD1, TLDC2 (M591V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2016910	NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 636815	NM_015474.4(SAMHD1):c.1868A>G (p.Asp623Gly)	SAMHD1, TLDC2 (D623G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1058962	NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr)	SAMHD1, TLDC2 (F586Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1092790	NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=)	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1114447	NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2159232	NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)	SAMHD1, TLDC2 (S579Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2744938	NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 798451	NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 290248	NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)	SAMHD1, TLDC2 (R611Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2048179	NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)	SAMHD1, TLDC2 (R576G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1958551	NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2146169	NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)	SAMHD1, TLDC2 (R609C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1137696	NM_015474.4(SAMHD1):c.1812C>A (p.Val604=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2652304	NM_015474.4(SAMHD1):c.1809A>G (p.Ser603=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2002246	NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)	SAMHD1, TLDC2 (S601N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 836506	NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)	SAMHD1, TLDC2 (D600N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 537757	NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign/Likely benign
Select item 1488906	NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn)	TLDC2, SAMHD1 (K560N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2049337	NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1398327	NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter)	SAMHD1, TLDC2 (Q559* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
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 1607939	NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=)	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2029036	NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1464496	NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp)	SAMHD1, TLDC2 (V551D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 660739	NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)	SAMHD1, TLDC2 (D585N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1107652	NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1571400	NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=)	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 1615061	NM_080628.3(TLDC2):c.231_234del	SAMHD1, TLDC2	Deletion (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 735488	NM_080628.3(TLDC2):c.*233GA[3]	TLDC2, SAMHD1	Microsatellite (3 prime UTR variant +1 more)	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 1548353	NM_080628.3(TLDC2):c.*239dup	SAMHD1, TLDC2	Duplication (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1545690	NM_080628.3(TLDC2):c.*238A>T	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2696375	NM_080628.3(TLDC2):c.*244del	SAMHD1, TLDC2	Deletion (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GBenign
Select item 1281163	NM_080628.3(TLDC2):c.*412C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3035616	NM_080628.3(TLDC2):c.*1057T>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	SAMHD1-related disorder	GLikely benign
Select item 3048466	NM_080628.3(TLDC2):c.1072_1084del	SAMHD1, TLDC2 (R586fs)	Deletion (3 prime UTR variant +2 more)	SAMHD1-related disorder	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 1538330	NM_015474.4(SAMHD1):c.1746+18C>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2711285	NM_015474.4(SAMHD1):c.1746+17T>C	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 568564	NM_015474.4(SAMHD1):c.1746+4_1746+15del	SAMHD1	Deletion (splice donor variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1131032	NM_015474.4(SAMHD1):c.1746+10C>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2140531	NM_015474.4(SAMHD1):c.1746+9C>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2760993	NM_015474.4(SAMHD1):c.1746+8G>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2016710	NM_015474.4(SAMHD1):c.1746+7G>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1980742	NM_015474.4(SAMHD1):c.1746+4G>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 741733	NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)	SAMHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1407087	NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu)	SAMHD1 (P581L +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2188972	NM_015474.4(SAMHD1):c.1740G>A (p.Lys580=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1917636	NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)	SAMHD1 (K580M +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1440703	NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg)	SAMHD1 (K580R +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 338340	NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala)	SAMHD1 (T579A +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 2775656	NM_015474.4(SAMHD1):c.1734C>T (p.Phe578=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 991697	NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu)	SAMHD1 (D540E +1 more)	Single nucleotide variant (missense variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 897758	NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1041866	NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn)	SAMHD1 (D575N +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1927254	NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr)	SAMHD1 (A574T +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1956795	NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter)	SAMHD1 (Q536* +1 more)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 841597	NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys)	SAMHD1 (Q536K +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1386446	NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile)	SAMHD1 (F534I +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
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 1665979	NM_015474.4(SAMHD1):c.1695A>C (p.Ala565=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1018902	NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr)	SAMHD1 (A530T +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338341	NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +2 more	GBenign
Select item 1469587	NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys)	SAMHD1 (Y528C +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2201078	NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)	SAMHD1 (S526fs +1 more)	Microsatellite (frameshift variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1923273	NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)	SAMHD1 (K560R +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1536811	NM_015474.4(SAMHD1):c.1674C>T (p.Asp558=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 946981	NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu)	SAMHD1 (D523E +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1472651	NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly)	SAMHD1 (V557G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2087907	NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)	SAMHD1 (C519Y +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1986510	NM_015474.4(SAMHD1):c.1659T>C (p.Tyr553=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1413960	NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys)	SAMHD1 (Y553C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 451012	NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp)	SAMHD1 (Y553D +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 1932125	NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)	SAMHD1 (R551Q +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 81627	NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)	SAMHD1 (R551* +1 more)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5 +1 more	GPathogenic/Likely pathogenic

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