ClinVar for Gene (Select 171568) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239094	NM_001018050.4(POLR3H):c.435C>T (p.Gly145=)	POLR3H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3216615	NM_001018050.4(POLR3H):c.74C>G (p.Ser25Cys)	POLR3H (S25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216613	NM_001018050.4(POLR3H):c.502G>C (p.Ala168Pro)	POLR3H (A139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216612	NM_001018050.4(POLR3H):c.217C>A (p.Arg73Ser)	POLR3H (R73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216610	NM_001018050.4(POLR3H):c.131T>G (p.Leu44Arg)	POLR3H (L44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3061339	NM_001098.3(ACO2):c.2284C>T (p.Gln762Ter)	ACO2, POLR3H (Q762*)	Single nucleotide variant (3 prime UTR variant +1 more)	ACO2-related disorder	GUncertain significance
Select item 3022886	NM_001098.3(ACO2):c.1878C>T (p.Asn626=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3014479	NM_001098.3(ACO2):c.2006C>G (p.Ser669Trp)	ACO2, POLR3H (S669W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2998775	NM_001098.3(ACO2):c.1917G>C (p.Glu639Asp)	ACO2, POLR3H (E639D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2991660	NM_001098.3(ACO2):c.2148C>G (p.Asn716Lys)	ACO2, POLR3H (N716K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2988726	NM_001018050.4(POLR3H):c.*2813del	ACO2, POLR3H	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2967127	NM_001098.3(ACO2):c.2197A>G (p.Thr733Ala)	ACO2, POLR3H (T733A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2901980	NM_001098.3(ACO2):c.2217G>T (p.Lys739Asn)	ACO2, POLR3H (K739N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2892785	NM_001098.3(ACO2):c.1872T>C (p.Ile624=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2870327	NM_001098.3(ACO2):c.2052G>A (p.Arg684=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2861383	NM_001098.3(ACO2):c.1909del (p.Thr637fs)	ACO2, POLR3H (T637fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2811496	NM_001098.3(ACO2):c.2100G>T (p.Lys700Asn)	ACO2, POLR3H (K700N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2797895	NM_001098.3(ACO2):c.1898G>T (p.Arg633Leu)	ACO2, POLR3H (R633L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2794784	NM_001098.3(ACO2):c.1851G>C (p.Leu617=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2791570	NM_001098.3(ACO2):c.2129C>A (p.Ala710Asp)	ACO2, POLR3H (A710D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2786925	NM_001098.3(ACO2):c.1987G>A (p.Glu663Lys)	ACO2, POLR3H (E663K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2776493	NM_001018050.4(POLR3H):c.815_816delinsGT	ACO2, POLR3H	Indel (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2776223	NM_001098.3(ACO2):c.1996G>A (p.Gly666Ser)	ACO2, POLR3H (G666S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2759283	NM_001098.3(ACO2):c.2202T>C (p.Pro734=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2758947	NM_001018050.4(POLR3H):c.*2822T>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2749055	NM_001018050.4(POLR3H):c.*1850G>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2725423	NM_001018050.4(POLR3H):c.*1245G>C	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2710409	NM_001098.3(ACO2):c.2130T>A (p.Ala710=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2701191	NM_001018050.4(POLR3H):c.*1999T>C	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2696957	NM_001098.3(ACO2):c.2088G>T (p.Glu696Asp)	ACO2, POLR3H (E696D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2686036	NM_001098.3(ACO2):c.1831_1833delinsC (p.Asp611fs)	ACO2, POLR3H (D611fs)	Indel (3 prime UTR variant +1 more)	Optic atrophy 9	GLikely pathogenic
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2653233	NM_001018050.4(POLR3H):c.360C>T (p.Phe120=)	POLR3H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599588	NM_001018050.4(POLR3H):c.554C>G (p.Thr185Arg)	POLR3H (T156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597847	NM_001018050.4(POLR3H):c.278G>A (p.Ser93Asn)	POLR3H (S93N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594959	NM_001018050.4(POLR3H):c.109A>G (p.Lys37Glu)	POLR3H (K37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582321	NM_001098.3(ACO2):c.1940C>G (p.Ala647Gly)	POLR3H, ACO2 (A647G)	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile cerebellar-retinal degeneration	GUncertain significance
Select item 2579234	GRCh38/hg38 22q13.2(chr22:41527570-41532843)x1	ACO2, POLR3H	Copy number loss	Infantile cerebellar-retinal degeneration	GLikely pathogenic
Select item 2575628	NM_001098.3(ACO2):c.1849C>G (p.Leu617Val)	ACO2, POLR3H (L617V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2549955	NM_001018050.4(POLR3H):c.433G>T (p.Gly145Cys)	POLR3H (G116C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493184	NM_001018050.4(POLR3H):c.136A>G (p.Ile46Val)	POLR3H (I46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464413	NM_001018050.4(POLR3H):c.108C>G (p.Asn36Lys)	POLR3H (N36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423686	NC_000022.10:g.(?_41918814)_(41923444_?)dup	POLR3H, ACO2	Duplication	not provided	GUncertain significance
Select item 2423685	NC_000022.10:g.(?_41907860)_(41924617_?)dup	ACO2, POLR3H	Duplication	not provided	GUncertain significance
Select item 2423684	NC_000022.10:g.(?_41918814)_(41924617_?)del	ACO2, POLR3H	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2331181	NM_001018050.4(POLR3H):c.394G>A (p.Glu132Lys)	POLR3H (E132K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296795	NM_001018050.4(POLR3H):c.76A>G (p.Ile26Val)	POLR3H (I26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285211	NM_001018050.4(POLR3H):c.65T>A (p.Leu22His)	POLR3H (L22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265881	NM_001018050.4(POLR3H):c.452G>A (p.Arg151Gln)	POLR3H (R122Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259755	NM_001018050.4(POLR3H):c.322C>T (p.Leu108Phe)	POLR3H (L79F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212966	NM_001018050.4(POLR3H):c.451C>T (p.Arg151Trp)	POLR3H (R122W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2193320	NM_001098.3(ACO2):c.1958A>G (p.His653Arg)	ACO2, POLR3H (H653R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2189561	NM_001098.3(ACO2):c.2203G>A (p.Gly735Ser)	ACO2, POLR3H (G735S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2184437	NM_001098.3(ACO2):c.2054C>T (p.Ala685Val)	ACO2, POLR3H (A685V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2180441	NM_001098.3(ACO2):c.1963A>T (p.Ile655Phe)	ACO2, POLR3H (I655F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2171346	NM_001098.3(ACO2):c.1945TAC[1] (p.Tyr650del)	ACO2, POLR3H (Y650del)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2167611	NM_001098.3(ACO2):c.2334G>C (p.Leu778=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	ACO2-related disorder +1 more	GLikely benign
Select item 2159146	NM_001098.3(ACO2):c.1995C>T (p.Tyr665=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2150346	NM_001098.3(ACO2):c.1870A>G (p.Ile624Val)	POLR3H, ACO2 (I624V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2134225	NM_001098.3(ACO2):c.2268C>T (p.His756=)	ACO2, POLR3H	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2128473	NM_001098.3(ACO2):c.1832del (p.Asp611fs)	ACO2, POLR3H (D611fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2124610	NM_001098.3(ACO2):c.2040C>A (p.His680Gln)	ACO2, POLR3H (H680Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2117708	NM_001098.3(ACO2):c.1775G>A (p.Cys592Tyr)	ACO2, POLR3H (C592Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2103887	NM_001018050.4(POLR3H):c.*1844G>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2096102	NM_001098.3(ACO2):c.2066A>G (p.Lys689Arg)	ACO2, POLR3H (K689R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2094132	NM_001018050.4(POLR3H):c.*815A>T	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2092488	NM_001098.3(ACO2):c.1864A>G (p.Ile622Val)	ACO2, POLR3H (I622V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2090831	NM_001098.3(ACO2):c.2018A>G (p.His673Arg)	ACO2, POLR3H (H673R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2087881	NM_001098.3(ACO2):c.2287A>T (p.Ile763Phe)	ACO2, POLR3H (I763F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2069651	NM_001098.3(ACO2):c.2036G>A (p.Arg679His)	ACO2, POLR3H (R679H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2058788	NM_001018050.4(POLR3H):c.2009_2010delinsTT	ACO2, POLR3H	Indel (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2054157	NM_001018050.4(POLR3H):c.*1244G>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2047564	NM_001098.3(ACO2):c.1957C>G (p.His653Asp)	ACO2, POLR3H (H653D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2033168	NM_001018050.4(POLR3H):c.*2818A>G	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2031049	NM_001098.3(ACO2):c.1912C>T (p.Gln638Ter)	POLR3H, ACO2 (Q638*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2027480	NM_001098.3(ACO2):c.2023_2084del (p.Ala675fs)	ACO2, POLR3H (A675fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2012493	NM_001098.3(ACO2):c.1982G>C (p.Gly661Ala)	ACO2, POLR3H (G661A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2011988	NM_001098.3(ACO2):c.2302G>C (p.Ala768Pro)	ACO2, POLR3H (A768P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2010654	NM_001098.3(ACO2):c.1881C>T (p.Gly627=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2008942	NM_001098.3(ACO2):c.2314_*10del (p.Leu772fs)	ACO2, POLR3H (L772fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2003864	NM_001098.3(ACO2):c.1851_1859del (p.Leu618_Gly620del)	ACO2, POLR3H	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1992271	NM_001098.3(ACO2):c.2214G>C (p.Leu738=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1991429	NM_001098.3(ACO2):c.1857T>C (p.Ile619=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1976785	NM_001098.3(ACO2):c.2277C>T (p.Asn759=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1975810	NM_001098.3(ACO2):c.1762G>A (p.Val588Ile)	ACO2, POLR3H (V588I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1965086	NM_001018050.4(POLR3H):c.*3041G>C	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1959497	NM_001098.3(ACO2):c.1968G>C (p.Arg656Ser)	ACO2, POLR3H (R656S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1956614	NM_001018050.4(POLR3H):c.*1256C>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1950524	NM_001018050.4(POLR3H):c.822_831del	ACO2, POLR3H	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1950118	NM_001018050.4(POLR3H):c.*2009G>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1935936	NM_001018050.4(POLR3H):c.*3037G>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1935038	NM_001098.3(ACO2):c.1957C>T (p.His653Tyr)	ACO2, POLR3H (H653Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1923056	NM_001018050.4(POLR3H):c.*821G>A	POLR3H, ACO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1917990	NM_001098.3(ACO2):c.1923C>T (p.Gly641=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1715924	NM_001098.3(ACO2):c.1999_2000delinsTT (p.Glu667Leu)	ACO2, POLR3H (E667L)	Indel (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1709577	NM_001098.3(ACO2):c.1823_1896dup (p.Arg633fs)	ACO2, POLR3H (R633fs)	Duplication (3 prime UTR variant +1 more)	Optic atrophy 9	GLikely pathogenic

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