Related gene-specific medical variations for Gene (Select 84153) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355089	NM_032193.4(RNASEH2C):c.102C>A (p.Cys34Ter)	LOC130006061, RNASEH2C (C34*)	Single nucleotide variant (nonsense)	RNASEH2C-related disorder	GLikely pathogenic
Select item 3257591	NM_182710.3(KAT5):c.1296A>G (p.Thr432=)	KAT5, RNASEH2C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239155	NM_182710.3(KAT5):c.1292A>G (p.Lys431Arg)	KAT5, RNASEH2C (K346R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 3026669	NM_032193.4(RNASEH2C):c.93G>A (p.Leu31=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023519	NM_032193.4(RNASEH2C):c.172+19C>T	RNASEH2C, LOC130006061	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 3022029	NM_032193.4(RNASEH2C):c.172+13G>T	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 3009224	NM_032193.4(RNASEH2C):c.172+7C>T	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2989786	NM_032193.4(RNASEH2C):c.120G>T (p.Gly40=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2986216	NM_032193.4(RNASEH2C):c.156C>T (p.Ile52=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2979027	NM_032193.4(RNASEH2C):c.138C>T (p.Arg46=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2903436	NM_032193.4(RNASEH2C):c.168C>G (p.Pro56=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2863699	NM_032193.4(RNASEH2C):c.96G>T (p.Leu32=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2854994	NM_032193.4(RNASEH2C):c.102C>T (p.Cys34=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2828468	NM_032193.4(RNASEH2C):c.94C>T (p.Leu32=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2827790	NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)	LOC130006061, RNASEH2C (A24V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2809303	NM_032193.4(RNASEH2C):c.51C>A (p.Arg17=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2807082	NM_032193.4(RNASEH2C):c.150C>T (p.Pro50=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2785693	NM_032193.4(RNASEH2C):c.75A>G (p.Val25=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2764228	NM_032193.4(RNASEH2C):c.60A>G (p.Thr20=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2754565	NM_032193.4(RNASEH2C):c.172+8C>T	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2753593	NM_032193.4(RNASEH2C):c.78C>G (p.Pro26=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2749133	NM_032193.4(RNASEH2C):c.126C>G (p.Ala42=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2730144	NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2702052	NM_032193.4(RNASEH2C):c.57C>A (p.Ala19=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
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 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 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 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 2261133	NM_032193.4(RNASEH2C):c.40G>A (p.Val14Ile)	LOC130006061, RNASEH2C (V14I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2198917	NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)	LOC130006061, RNASEH2C (L29V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2190433	NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)	LOC130006061, RNASEH2C (V14L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2173857	NM_032193.4(RNASEH2C):c.129G>A (p.Pro43=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2148005	NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)	LOC130006061, RNASEH2C (G40R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2139978	NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)	LOC130006061, RNASEH2C (G45R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2133406	NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)	LOC130006061, RNASEH2C (P41fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2106541	NM_032193.4(RNASEH2C):c.36C>T (p.His12=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 2102055	NM_032193.4(RNASEH2C):c.37del (p.Arg13fs)	LOC130006061, RNASEH2C (R13fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2061065	NM_032193.4(RNASEH2C):c.165C>T (p.Gly55=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1985578	NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly)	LOC130006061, RNASEH2C (A37G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1979559	NM_032193.4(RNASEH2C):c.72C>A (p.Ala24=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1971431	NM_032193.4(RNASEH2C):c.130G>C (p.Val44Leu)	LOC130006061, RNASEH2C (V44L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1965431	NM_032193.4(RNASEH2C):c.39C>G (p.Arg13=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1945798	NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)	LOC130006061, RNASEH2C (G55R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1944783	NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)	LOC130006061, RNASEH2C (R53C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1878887	NM_032193.4(RNASEH2C):c.*1115C>T	KAT5, RNASEH2C (R363Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1697288	NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp)	RNASEH2C (G133D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1646382	NM_032193.4(RNASEH2C):c.172+12G>A	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1642700	NM_032193.4(RNASEH2C):c.172+17G>C	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1640429	NM_032193.4(RNASEH2C):c.159C>T (p.Arg53=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1639631	NM_032193.4(RNASEH2C):c.78C>T (p.Pro26=)	RNASEH2C, LOC130006061	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1619624	NM_032193.4(RNASEH2C):c.172+15C>T	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1602065	NM_032193.4(RNASEH2C):c.141C>T (p.Phe47=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1579900	NM_032193.4(RNASEH2C):c.66C>T (p.Arg22=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1572973	NM_032193.4(RNASEH2C):c.85C>T (p.Leu29=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1553411	NM_032193.4(RNASEH2C):c.172+14C>A	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GLikely benign
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 1508221	NM_032193.4(RNASEH2C):c.172+5G>A	LOC130006061, RNASEH2C	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1493835	NM_032193.4(RNASEH2C):c.43C>G (p.His15Asp)	LOC130006061, RNASEH2C (H15D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1465391	NM_032193.4(RNASEH2C):c.70G>T (p.Ala24Ser)	LOC130006061, RNASEH2C (A24S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1462541	NM_032193.4(RNASEH2C):c.105G>C (p.Glu35Asp)	LOC130006061, RNASEH2C (E35D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1418181	NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val)	LOC130006061, RNASEH2C (G55V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1415048	NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala)	LOC130006061, RNASEH2C (P56A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1396791	NM_032193.4(RNASEH2C):c.53C>T (p.Ser18Phe)	LOC130006061, RNASEH2C (S18F)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1389525	NM_032193.4(RNASEH2C):c.136C>T (p.Arg46Cys)	LOC130006061, RNASEH2C (R46C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1374492	NM_032193.4(RNASEH2C):c.151G>A (p.Ala51Thr)	LOC130006061, RNASEH2C (A51T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1370935	NM_032193.4(RNASEH2C):c.104A>G (p.Glu35Gly)	LOC130006061, RNASEH2C (E35G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1354217	NM_032193.4(RNASEH2C):c.137G>T (p.Arg46Leu)	LOC130006061, RNASEH2C (R46L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1346350	NM_032193.4(RNASEH2C):c.98C>T (p.Pro33Leu)	LOC130006061, RNASEH2C (P33L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	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 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 1319593	NM_032193.4(RNASEH2C):c.228G>C (p.Pro76=)	RNASEH2C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1128247	NM_032193.4(RNASEH2C):c.126C>T (p.Ala42=)	RNASEH2C, LOC130006061	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1118614	NM_032193.4(RNASEH2C):c.46T>C (p.Leu16=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1111518	NM_032193.4(RNASEH2C):c.69C>T (p.Asp23=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1093937	NM_032193.4(RNASEH2C):c.117C>T (p.Asp39=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1077696	NM_032193.4(RNASEH2C):c.39C>T (p.Arg13=)	LOC130006061, RNASEH2C	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 3	GLikely benign
Select item 1046898	NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr)	LOC130006061, RNASEH2C (C34Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1028926	NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val)	LOC130006061, RNASEH2C (I52V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 1014463	NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys)	LOC130006061, RNASEH2C (F47C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 987966	NM_182710.3(KAT5):c.1336T>G (p.Ser446Ala)	KAT5, RNASEH2C (S413A +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GPathogenic
Select item 962484	NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu)	LOC130006061, RNASEH2C (F48L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 959192	NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn)	LOC130006061, RNASEH2C (D39N)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 939310	NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile)	LOC130006061, RNASEH2C (T20I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 934107	NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser)	LOC130006061, RNASEH2C (R17S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 880429	NM_032193.4(RNASEH2C):c.*572C>T	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 879241	NM_032193.4(RNASEH2C):c.*1378G>C	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 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 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 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 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 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 871875	NM_032193.4(RNASEH2C):c.61_84del (p.Arg22_Leu29del)	LOC130006061, RNASEH2C	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 640671	NM_032193.4(RNASEH2C):c.169G>A (p.Glu57Lys)	LOC130006061, RNASEH2C (E57K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 582219	NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly)	LOC130006061, RNASEH2C (A19G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 464266	NM_032193.4(RNASEH2C):c.115G>T (p.Asp39Tyr)	LOC130006061, RNASEH2C (D39Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 3	GUncertain significance

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