ClinVar for Gene (Select 10524) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346662	NM_182710.3(KAT5):c.615+7T>A	KAT5	Single nucleotide variant (intron variant)	KAT5-related disorder	GLikely benign
Select item 3346514	NM_182710.3(KAT5):c.1183A>G (p.Thr395Ala)	KAT5 (T310A +3 more)	Single nucleotide variant (missense variant)	KAT5-related disorder	GUncertain significance
Select item 3341412	NM_182710.3(KAT5):c.9G>C (p.Glu3Asp)	KAT5 (E3D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 3287379	NM_182710.3(KAT5):c.1136G>A (p.Cys379Tyr)	KAT5 (C379Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3257359	NM_182710.3(KAT5):c.157C>G (p.Gln53Glu)	KAT5, LOC130006059 (Q20E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251196	NM_182710.3(KAT5):c.1171_1174del (p.Glu391fs)	KAT5 (E306fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3251053	NM_182710.3(KAT5):c.612C>T (p.Pro204=)	KAT5	Single nucleotide variant (synonymous variant)	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 3236591	NM_182710.3(KAT5):c.540G>A (p.Thr180=)	KAT5	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 3233455	NM_182710.3(KAT5):c.425C>T (p.Pro142Leu)	KAT5 (P109L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112746	NM_182710.3(KAT5):c.79G>A (p.Val27Ile)	KAT5, LOC130006059 (V27I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112745	NM_182710.3(KAT5):c.728C>T (p.Pro243Leu)	KAT5 (P191L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112744	NM_182710.3(KAT5):c.649C>A (p.Pro217Thr)	KAT5 (P217T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112743	NM_182710.3(KAT5):c.586G>A (p.Glu196Lys)	KAT5 (E196K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112742	NM_182710.3(KAT5):c.538A>G (p.Thr180Ala)	KAT5 (T147A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641969	NM_182710.3(KAT5):c.708T>C (p.Ser236=)	KAT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641968	NM_182710.3(KAT5):c.179-7C>T	KAT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641967	NM_182710.3(KAT5):c.129C>T (p.Gly43=)	KAT5, LOC130006059	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636040	NM_182710.3(KAT5):c.95T>A (p.Val32Asp)	KAT5, LOC130006059 (V32D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2628623	NM_182710.3(KAT5):c.656G>A (p.Arg219Gln)	KAT5 (R134Q +3 more)	Single nucleotide variant (missense variant)	KAT5-related disorder	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 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 2604914	NM_182710.3(KAT5):c.208A>T (p.Ile70Phe)	KAT5 (I37F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601549	NM_182710.3(KAT5):c.404G>T (p.Ser135Ile)	KAT5 (S135I +1 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 2504026	NM_182710.3(KAT5):c.930G>C (p.Gln310His)	KAT5 (Q225H +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities +1 more	GUncertain significance
Select item 2490195	NM_182710.3(KAT5):c.49G>T (p.Gly17Trp)	KAT5, LOC130006059 (G17W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2431820	NM_182710.3(KAT5):c.922T>A (p.Cys308Ser)	KAT5 (C223S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2372508	NM_182710.3(KAT5):c.478G>C (p.Gly160Arg)	KAT5 (G160R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2320945	NM_182710.3(KAT5):c.19C>G (p.Pro7Ala)	KAT5 (P7A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317678	NM_182710.3(KAT5):c.278A>T (p.His93Leu)	KAT5 (H60L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300390	NM_182710.3(KAT5):c.668C>T (p.Ser223Leu)	KAT5 (S223L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297764	NM_182710.3(KAT5):c.506C>G (p.Ser169Cys)	KAT5 (S136C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297183	NM_182710.3(KAT5):c.392C>T (p.Ser131Leu)	KAT5 (S98L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289066	NM_182710.3(KAT5):c.205G>A (p.Asp69Asn)	KAT5 (D36N +1 more)	Single nucleotide variant (missense variant)	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 2257851	NM_182710.3(KAT5):c.310C>G (p.Pro104Ala)	KAT5 (P71A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255705	NM_182710.3(KAT5):c.449A>C (p.Asn150Thr)	KAT5 (N117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240823	NM_182710.3(KAT5):c.566C>T (p.Pro189Leu)	KAT5 (P104L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2168724	NM_182710.3(KAT5):c.128G>C (p.Gly43Ala)	KAT5, LOC130006059 (G10A +1 more)	Single nucleotide variant (missense variant)	not provided	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 1708123	NM_182710.3(KAT5):c.524_534del (p.Pro175fs)	KAT5 (P142fs +1 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1679578	NM_182710.3(KAT5):c.690+7C>T	KAT5	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 1675461	NM_182710.3(KAT5):c.484G>A (p.Glu162Lys)	KAT5 (E129K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	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 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
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 1299702	NM_182710.3(KAT5):c.1264+3_1264+6del	KAT5	Deletion (splice donor variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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 987965	NM_182710.3(KAT5):c.1204T>A (p.Cys402Ser)	KAT5 (C369S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GPathogenic
Select item 987964	NM_182710.3(KAT5):c.257G>A (p.Arg86His)	KAT5 (R53H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	GPathogenic
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 776626	NM_182710.3(KAT5):c.198C>T (p.Ser66=)	KAT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
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 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 305352	NM_032193.4(RNASEH2C):c.*385C>A	RNASEH2C, KAT5	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 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 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 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 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 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 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 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 305343	NM_032193.4(RNASEH2C):c.*719T>G	KAT5, RNASEH2C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 305339	NM_032193.4(RNASEH2C):c.*948dup	KAT5, RNASEH2C	Duplication (3 prime UTR variant +1 more)	Aicardi Goutieres syndrome +2 more	GBenign/Likely benign
Select item 305338	NM_032193.4(RNASEH2C):c.*1017G>A	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely 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 305336	NM_032193.4(RNASEH2C):c.*1295T>C	RNASEH2C, KAT5	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3 +1 more	GBenign/Likely benign
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 305334	NM_032193.4(RNASEH2C):c.*1527A>C	KAT5, RNASEH2C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 305332	NM_032193.4(RNASEH2C):c.*1621A>G	RNASEH2C, KAT5	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 3	GBenign

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