25671[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 147435	GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1	ARL11, CAB39L +101 more	Copy number loss	See cases	GPathogenic
Select item 1331250	NC_000013.11:g.50909488C>G	RNASEH2B, RNASEH2B-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1221632	NC_000013.11:g.50909575A>G	RNASEH2B, RNASEH2B-AS1	Single nucleotide variant	not provided	GBenign
Select item 312321	NM_001142279.2(RNASEH2B):c.-399C>G	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 312322	NM_001142279.2(RNASEH2B):c.-313C>G	RNASEH2B-AS1, LOC130009809 +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 883520	NM_001142279.2(RNASEH2B):c.-294C>T	RNASEH2B, RNASEH2B-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 883521	NM_001142279.2(RNASEH2B):c.-293A>G	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 312323	NM_024570.4(RNASEH2B):c.-228C>A	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 312324	NM_024570.4(RNASEH2B):c.-210G>C	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2 +1 more	GBenign/Likely benign
Select item 312325	NM_024570.4(RNASEH2B):c.-181G>A	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 881148	NM_024570.4(RNASEH2B):c.-145G>A	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 312326	NM_024570.4(RNASEH2B):c.-117C>G	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 312327	NM_024570.4(RNASEH2B):c.-112C>T	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 312328	NM_024570.4(RNASEH2B):c.-107G>A	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 661979	NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)	LOC130009810, RNASEH2B +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 2	GConflicting classifications of pathogenicity
Select item 1451439	NM_024570.4(RNASEH2B):c.4del (p.Ala2fs)	LOC130009810, RNASEH2B +1 more (A2fs)	Deletion (frameshift variant +1 more)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 280090	NM_024570.4(RNASEH2B):c.3G>A (p.Met1Ile)	LOC130009810, RNASEH2B +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1512047	NM_024570.4(RNASEH2B):c.4G>C (p.Ala2Pro)	LOC130009810, RNASEH2B +1 more (A2P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2752788	NM_024570.4(RNASEH2B):c.6C>G (p.Ala2=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2719858	NM_024570.4(RNASEH2B):c.9T>G (p.Ala3=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2832181	NM_024570.4(RNASEH2B):c.12C>G (p.Gly4=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2812531	NM_024570.4(RNASEH2B):c.15G>T (p.Val5=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2103939	NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)	LOC130009810, RNASEH2B +1 more (D6Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1576376	NM_024570.4(RNASEH2B):c.18C>T (p.Asp6=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 881149	NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)	LOC130009810, RNASEH2B +1 more (C7Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2977557	NM_024570.4(RNASEH2B):c.21C>T (p.Cys7=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1471044	NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn)	RNASEH2B-AS1, LOC130009810 +1 more (D9N)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1041906	NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His)	LOC130009810, RNASEH2B +1 more (D9H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2106018	NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)	LOC130009810, RNASEH2B +1 more (D9V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2581245	NM_024570.4(RNASEH2B):c.28G>C (p.Gly10Arg)	LOC130009810, RNASEH2B +1 more (G10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2116662	NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala)	LOC130009810, RNASEH2B +1 more (G10A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1467438	NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu)	LOC130009810, RNASEH2B +1 more (G10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1642038	NM_024570.4(RNASEH2B):c.30G>A (p.Gly10=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1931386	NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe)	LOC130009810, RNASEH2B +1 more (V11F)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 871583	NM_024570.4(RNASEH2B):c.37_43del (p.Ala13fs)	LOC130009810, RNASEH2B +1 more (A13fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1385763	NM_024570.4(RNASEH2B):c.35G>A (p.Gly12Asp)	LOC130009810, RNASEH2B +1 more (G12D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1608000	NM_024570.4(RNASEH2B):c.39C>T (p.Ala13=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 540250	NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp)	LOC130009810, RNASEH2B +1 more (R14W)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 952190	NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln)	LOC130009810, RNASEH2B +1 more (R14Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2708280	NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)	LOC130009810, RNASEH2B +1 more (V17fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 1442549	NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr)	LOC130009810, RNASEH2B +1 more (H16Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1027230	NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile)	LOC130009810, RNASEH2B +1 more (F18I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2 +1 more	GUncertain significance
Select item 1537604	NM_024570.4(RNASEH2B):c.54C>T (p.Phe18=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1671010	NM_024570.4(RNASEH2B):c.55C>T (p.Leu19=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 432925	NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu)	RNASEH2B, RNASEH2B-AS1 +1 more (V20L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1420289	NM_024570.4(RNASEH2B):c.63del (p.Glu22fs)	LOC130009810, RNASEH2B +1 more (E22fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 2573006	NM_024570.4(RNASEH2B):c.64+2_64+6del	LOC130009810, RNASEH2B +1 more	Deletion (splice donor variant)	Aicardi-Goutieres syndrome 2	GLikely pathogenic
Select item 2103291	NM_024570.4(RNASEH2B):c.64+3A>G	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2002103	NM_024570.4(RNASEH2B):c.64+7_64+8del	LOC130009810, RNASEH2B +1 more	Microsatellite (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 704546	NM_024570.4(RNASEH2B):c.64+8C>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2819722	NM_024570.4(RNASEH2B):c.64+11G>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2016968	NM_024570.4(RNASEH2B):c.64+11G>A	RNASEH2B-AS1, LOC130009810 +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2745234	NM_024570.4(RNASEH2B):c.64+13G>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2956038	NM_024570.4(RNASEH2B):c.64+14C>T	RNASEH2B-AS1, LOC130009810 +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2815274	NM_024570.4(RNASEH2B):c.64+16C>G	RNASEH2B-AS1, LOC130009810 +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1673652	NM_024570.4(RNASEH2B):c.64+16C>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1417306	NM_024570.4(RNASEH2B):c.64+17G>A	RNASEH2B, RNASEH2B-AS1 +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1246133	NM_024570.4(RNASEH2B):c.64+80C>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1230657	NM_024570.4(RNASEH2B):c.64+169C>T	RNASEH2B, RNASEH2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1606943	NM_024570.4(RNASEH2B):c.65-19A>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1549027	NM_024570.4(RNASEH2B):c.65-18T>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1629438	NM_024570.4(RNASEH2B):c.65-14C>T	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3018842	NM_024570.4(RNASEH2B):c.65-13G>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 992865	NM_024570.4(RNASEH2B):c.65-13G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2 +1 more	GLikely pathogenic
Select item 1581856	NM_024570.4(RNASEH2B):c.65-11T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2841406	NM_024570.4(RNASEH2B):c.65-1G>A	RNASEH2B	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 2	GLikely pathogenic
Select item 2842511	NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)	RNASEH2B (Y23*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 1127058	NM_024570.4(RNASEH2B):c.72A>G (p.Leu24=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 959880	NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe)	RNASEH2B (L24F)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 881619	NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly)	RNASEH2B (D26G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance

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