RNASEH2C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305321	NM_032193.4(RNASEH2C):c.*2097C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GBenign
Select item 305322	NM_032193.4(RNASEH2C):c.*2036C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GBenign
Select item 305323	NM_032193.4(RNASEH2C):c.*1977C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305324	NM_032193.4(RNASEH2C):c.*1917T>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GBenign
Select item 305325	NM_032193.4(RNASEH2C):c.*1831G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305326	NM_032193.4(RNASEH2C):c.*1806G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305327	NM_032193.4(RNASEH2C):c.*1778C>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305328	NM_032193.4(RNASEH2C):c.*1776C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GBenign
Select item 305329	NM_032193.4(RNASEH2C):c.*1768C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305330	NM_032193.4(RNASEH2C):c.*1737C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 878642	NM_032193.4(RNASEH2C):c.*1699G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305331	NM_032193.4(RNASEH2C):c.*1658G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305332	NM_032193.4(RNASEH2C):c.*1621A>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GBenign
Select item 305333	NM_032193.4(RNASEH2C):c.*1594G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 879240	NM_032193.4(RNASEH2C):c.*1532G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305334	NM_032193.4(RNASEH2C):c.*1527A>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GBenign
Select item 305335	NM_032193.4(RNASEH2C):c.*1504G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 879241	NM_032193.4(RNASEH2C):c.*1378G>C	RNASEH2C, KAT5	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305336	NM_032193.4(RNASEH2C):c.*1295T>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3 +1 more	GBenign/Likely benign
Select item 305337	NM_032193.4(RNASEH2C):c.*1217G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 987966	NM_182710.3(KAT5):c.1336T>G (p.Ser446Ala)	RNASEH2C, KAT5 (S413A +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GPathogenic
Select item 1878887	NM_032193.4(RNASEH2C):c.*1115C>T	RNASEH2C, KAT5 (R363Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1526175	NM_182710.3(KAT5):c.1369G>A (p.Glu457Lys)	KAT5, RNASEH2C (E372K +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 3064752	NM_182710.3(KAT5):c.1380G>A (p.Met460Ile)	KAT5, RNASEH2C (M375I +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 2342700	NM_182710.3(KAT5):c.1400G>C (p.Gly467Ala)	KAT5, RNASEH2C (G382A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1319631	NM_032193.4(RNASEH2C):c.*1033C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 305338	NM_032193.4(RNASEH2C):c.*1017G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 880428	NM_032193.4(RNASEH2C):c.*1007C>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 305339	NM_032193.4(RNASEH2C):c.*948dup	KAT5, RNASEH2C	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 305340	NM_032193.4(RNASEH2C):c.*940A>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305341	NM_032193.4(RNASEH2C):c.*862A>C	KAT5, RNASEH2C	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305342	NM_032193.4(RNASEH2C):c.*747G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305343	NM_032193.4(RNASEH2C):c.*719T>G	KAT5, RNASEH2C	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2620022	NM_182710.3(KAT5):c.1533G>C (p.Glu511Asp)	KAT5, RNASEH2C (E478D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572340	NM_182710.3(KAT5):c.1534G>A (p.Asp512Asn)	KAT5, RNASEH2C (D427N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 305344	NM_032193.4(RNASEH2C):c.*706T>A	KAT5, RNASEH2C (I428F +3 more)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 3067592	NM_182710.3(KAT5):c.1562T>C (p.Met521Thr)	KAT5, RNASEH2C (M436T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2280727	NM_182710.3(KAT5):c.1564C>A (p.Leu522Ile)	KAT5, RNASEH2C (L437I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1334728	NM_182710.3(KAT5):c.1568A>G (p.Lys523Arg)	KAT5, RNASEH2C (K438R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2627862	NM_182710.3(KAT5):c.1622G>C (p.Ser541Thr)	KAT5, RNASEH2C (S456T +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 880429	NM_032193.4(RNASEH2C):c.*572C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GBenign
Select item 305345	NM_032193.4(RNASEH2C):c.*560C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305346	NM_032193.4(RNASEH2C):c.*542G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 305347	NM_032193.4(RNASEH2C):c.*541C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305348	NM_032193.4(RNASEH2C):c.*532C>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305349	NM_032193.4(RNASEH2C):c.*456G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305350	NM_032193.4(RNASEH2C):c.*451C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305351	NM_032193.4(RNASEH2C):c.*440G>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305352	NM_032193.4(RNASEH2C):c.*385C>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 877674	NM_032193.4(RNASEH2C):c.*374T>G	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305353	NM_032193.4(RNASEH2C):c.*363C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 878689	NM_032193.4(RNASEH2C):c.*317C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 878690	NM_032193.4(RNASEH2C):c.*310C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 878691	NM_032193.4(RNASEH2C):c.*295C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 305354	NM_032193.4(RNASEH2C):c.*223G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 878692	NM_032193.4(RNASEH2C):c.*178C>G	RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 981624	NM_032193.4(RNASEH2C):c.*78A>G	RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305355	NM_032193.4(RNASEH2C):c.45_46insG	RNASEH2C	Insertion (3 prime UTR variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 305356	NM_032193.4(RNASEH2C):c.*29A>G	RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 305357	NM_032193.4(RNASEH2C):c.*27C>G	RNASEH2C	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1032268	NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys)	RNASEH2C	Single nucleotide variant (stop lost)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 917631	NM_032193.4(RNASEH2C):c.495A>G (p.Ter165Trp)	RNASEH2C	Single nucleotide variant (stop lost)	not specified	GUncertain significance
Select item 1056849	NM_032193.4(RNASEH2C):c.491A>G (p.Asp164Gly)	RNASEH2C (D164G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 287241	NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val)	RNASEH2C (D164V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1625020	NM_032193.4(RNASEH2C):c.489G>A (p.Glu163=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2708695	NM_032193.4(RNASEH2C):c.486C>T (p.Pro162=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 546670	NM_032193.4(RNASEH2C):c.486del (p.Glu163fs)	RNASEH2C (E163fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2629894	NM_032193.4(RNASEH2C):c.483dup (p.Pro162fs)	RNASEH2C (P162fs)	Duplication (frameshift variant)	RNASEH2C-related condition	GUncertain significance
Select item 2116184	NM_032193.4(RNASEH2C):c.483G>A (p.Val161=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1517718	NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala)	RNASEH2C (V161A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1965715	NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)	RNASEH2C (Q160K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 191022	NM_032193.4(RNASEH2C):c.478C>T (p.Gln160Ter)	RNASEH2C (Q160*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2716827	NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)	RNASEH2C (H158fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1945102	NM_032193.4(RNASEH2C):c.474C>T (p.His158=)	RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 964010	NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr)	RNASEH2C (H158Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 659651	NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp)	RNASEH2C (H158D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1713763	NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn)	RNASEH2C (I157N)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1128250	NM_032193.4(RNASEH2C):c.469-7G>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2825260	NM_032193.4(RNASEH2C):c.469-9C>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2770526	NM_032193.4(RNASEH2C):c.469-9C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2058953	NM_032193.4(RNASEH2C):c.469-14_469-9del	RNASEH2C	Deletion (intron variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2162733	NM_032193.4(RNASEH2C):c.469-11T>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1618860	NM_032193.4(RNASEH2C):c.469-12C>G	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1566771	NM_032193.4(RNASEH2C):c.469-12C>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2845350	NM_032193.4(RNASEH2C):c.469-14G>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2797471	NM_032193.4(RNASEH2C):c.469-15C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2755880	NM_032193.4(RNASEH2C):c.469-17G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1647281	NM_032193.4(RNASEH2C):c.469-19G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2750402	NM_032193.4(RNASEH2C):c.468+15_468+22del	RNASEH2C	Deletion (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2871945	NM_032193.4(RNASEH2C):c.468+20C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2799426	NM_032193.4(RNASEH2C):c.468+20del	RNASEH2C	Deletion (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1549083	NM_032193.4(RNASEH2C):c.468+18T>C	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1581628	NM_032193.4(RNASEH2C):c.468+17T>C	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1629310	NM_032193.4(RNASEH2C):c.468+16G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2910743	NM_032193.4(RNASEH2C):c.468+14G>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1591183	NM_032193.4(RNASEH2C):c.468+14G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1637299	NM_032193.4(RNASEH2C):c.468+13G>C	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1583581	NM_032193.4(RNASEH2C):c.468+12_468+13del	RNASEH2C	Deletion (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 305358	NM_032193.4(RNASEH2C):c.468+13G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GBenign/Likely benign
Select item 2964861	NM_032193.4(RNASEH2C):c.468+11G>A	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign

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