ClinVar for Gene (Select 55718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3571460	GRCh38/hg38 16p12.2(chr16:21794000-22439486)x1	LOC130058641, LOC130058642 +37 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 3422857	NM_018119.4(POLR3E):c.376C>G (p.Leu126Val)	POLR3E (L126V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422856	NM_018119.4(POLR3E):c.1675G>T (p.Ala559Ser)	POLR3E (A523S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422855	NM_018119.4(POLR3E):c.1504G>A (p.Val502Met)	POLR3E (V466M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3422854	NM_018119.4(POLR3E):c.1843G>A (p.Gly615Ser)	POLR3E (G579S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422853	NM_018119.4(POLR3E):c.1511A>C (p.Glu504Ala)	POLR3E (E468A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422852	NM_018119.4(POLR3E):c.876G>A (p.Met292Ile)	POLR3E (M256I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422850	NM_018119.4(POLR3E):c.2090G>C (p.Gly697Ala)	POLR3E (G661A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422849	NM_018119.4(POLR3E):c.1678C>T (p.Arg560Trp)	POLR3E (R560W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422848	NM_018119.4(POLR3E):c.665G>A (p.Arg222His)	POLR3E (R186H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422847	NM_018119.4(POLR3E):c.539C>T (p.Pro180Leu)	POLR3E (P144L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3422846	NM_018119.4(POLR3E):c.1475C>T (p.Pro492Leu)	POLR3E (P456L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3422845	NM_018119.4(POLR3E):c.947A>T (p.Lys316Met)	POLR3E (K280M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308841	NM_018119.4(POLR3E):c.266C>T (p.Thr89Ile)	POLR3E (T89I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308840	NM_018119.4(POLR3E):c.619C>T (p.His207Tyr)	POLR3E (H171Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308839	NM_018119.4(POLR3E):c.1184A>G (p.Asn395Ser)	POLR3E (N359S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308838	NM_018119.4(POLR3E):c.1664G>A (p.Ser555Asn)	POLR3E (S519N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308837	NM_018119.4(POLR3E):c.694G>A (p.Gly232Arg)	POLR3E (G232R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308836	NM_018119.4(POLR3E):c.1201A>T (p.Ile401Phe)	POLR3E (I401F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242336	GRCh37/hg19 16p12.2(chr16:21805656-22441329)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 3216601	NM_018119.4(POLR3E):c.907C>A (p.Pro303Thr)	POLR3E (P303T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216600	NM_018119.4(POLR3E):c.816G>C (p.Gln272His)	POLR3E (Q236H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216599	NM_018119.4(POLR3E):c.572A>G (p.Gln191Arg)	POLR3E (Q191R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216597	NM_018119.4(POLR3E):c.346G>A (p.Ala116Thr)	POLR3E (A116T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216596	NM_018119.4(POLR3E):c.323C>T (p.Thr108Ile)	POLR3E (T72I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216595	NM_018119.4(POLR3E):c.206A>G (p.Tyr69Cys)	POLR3E (Y33C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216594	NM_018119.4(POLR3E):c.1843G>C (p.Gly615Arg)	POLR3E (G579R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216592	NM_018119.4(POLR3E):c.1556T>C (p.Met519Thr)	POLR3E (M483T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216591	NM_018119.4(POLR3E):c.1357G>A (p.Gly453Arg)	POLR3E (G453R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216590	NM_018119.4(POLR3E):c.1270A>G (p.Thr424Ala)	POLR3E (T388A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216589	NM_018119.4(POLR3E):c.1150G>C (p.Asp384His)	POLR3E (D348H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063437	GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3063425	GRCh37/hg19 16p12.2(chr16:21787504-22431357)x3	CDR2, EEF2K +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063414	GRCh37/hg19 16p12.2(chr16:21946522-22710614)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3024602	GRCh37/hg19 16p12.2(chr16:21964745-22456395)x1	VWA3A, CDR2 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024601	GRCh37/hg19 16p12.2(chr16:21964682-22385940)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024600	GRCh37/hg19 16p12.2(chr16:21771791-22659880)x1	POLR3E, SDR42E2 +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 2646313	NM_018119.4(POLR3E):c.824C>T (p.Thr275Met)	POLR3E (T239M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2646312	NM_018119.4(POLR3E):c.468C>T (p.Asn156=)	POLR3E	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618994	NM_018119.4(POLR3E):c.905G>A (p.Gly302Asp)	POLR3E (G266D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594454	NM_018119.4(POLR3E):c.233C>T (p.Ala78Val)	POLR3E (A78V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578775	GRCh37/hg19 16p12.2(chr16:21858865-22361170)x3	EEF2K, MOSMO +7 more	Copy number gain	not provided	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2561414	NM_018119.4(POLR3E):c.52G>T (p.Ala18Ser)	POLR3E (A18S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2557963	NM_018119.4(POLR3E):c.1469C>T (p.Ala490Val)	POLR3E (A454V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551870	NM_018119.4(POLR3E):c.370C>T (p.Leu124Phe)	POLR3E (L124F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533392	NM_018119.4(POLR3E):c.1129C>T (p.Leu377Phe)	POLR3E (L341F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521007	NM_018119.4(POLR3E):c.1619C>T (p.Ala540Val)	POLR3E (A504V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515179	NM_018119.4(POLR3E):c.1527C>G (p.Asp509Glu)	POLR3E (D473E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2498684	GRCh37/hg19 16p12.2(chr16:21964745-22385630)x1	SDR42E2, UQCRC2 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 2494676	NM_018119.4(POLR3E):c.1649C>G (p.Pro550Arg)	POLR3E (P514R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493422	NM_018119.4(POLR3E):c.1069A>C (p.Met357Leu)	POLR3E (M321L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489335	NM_018119.4(POLR3E):c.1777C>A (p.Pro593Thr)	POLR3E (P593T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398141	NM_018119.4(POLR3E):c.137C>T (p.Ser46Leu)	POLR3E (S10L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356949	NM_018119.4(POLR3E):c.359G>A (p.Arg120Lys)	POLR3E (R120K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344324	NM_018119.4(POLR3E):c.212G>A (p.Arg71His)	POLR3E (R35H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342466	NM_018119.4(POLR3E):c.1777C>T (p.Pro593Ser)	POLR3E (P557S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333311	NM_018119.4(POLR3E):c.934C>T (p.Arg312Trp)	POLR3E (R276W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320494	NM_018119.4(POLR3E):c.130C>T (p.His44Tyr)	POLR3E (H44Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315578	NM_018119.4(POLR3E):c.1883C>T (p.Ala628Val)	POLR3E (A592V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2313704	NM_018119.4(POLR3E):c.449G>A (p.Arg150Gln)	POLR3E (R150Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299450	NM_018119.4(POLR3E):c.1573G>A (p.Gly525Ser)	POLR3E (G489S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297859	NM_018119.4(POLR3E):c.763G>A (p.Glu255Lys)	POLR3E (E219K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293068	NM_018119.4(POLR3E):c.395T>C (p.Ile132Thr)	POLR3E (I96T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287336	NM_018119.4(POLR3E):c.709G>A (p.Glu237Lys)	POLR3E (E201K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259621	NM_018119.4(POLR3E):c.1444C>T (p.Arg482Trp)	POLR3E (R446W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253127	NM_018119.4(POLR3E):c.1379G>A (p.Arg460Gln)	POLR3E (R424Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246991	NM_018119.4(POLR3E):c.216C>A (p.Ser72Arg)	POLR3E (S36R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236629	NM_018119.4(POLR3E):c.1418C>T (p.Ala473Val)	POLR3E (A473V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232465	NM_018119.4(POLR3E):c.821G>A (p.Arg274His)	POLR3E (R274H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222369	NM_018119.4(POLR3E):c.557G>A (p.Arg186His)	POLR3E (R150H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879353	GRCh37/hg19 16p12.2(chr16:21846039-22385630)x1	PDZD9, POLR3E +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1879352	GRCh37/hg19 16p12.2(chr16:21780595-22385630)x1	MOSMO, NPIPB4 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809106	GRCh37/hg19 16p12.2(chr16:21967066-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808745	GRCh37/hg19 16p12.2(chr16:21931248-22431357)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 1808703	GRCh37/hg19 16p12.2(chr16:21761405-22710614)x1	CDR2, EEF2K +9 more	Copy number loss	not provided	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1703608	GRCh37/hg19 16p12.2(chr16:21817921-22710614)	CDR2, EEF2K +8 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1703589	GRCh37/hg19 16p12.2(chr16:21801889-22431357)	CDR2, EEF2K +7 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703534	GRCh37/hg19 16p12.2(chr16:21801889-22710614)	CDR2, EEF2K +8 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1701284	NM_018119.4(POLR3E):c.1612C>T (p.Arg538Trp)	POLR3E (R502W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1693532	NM_018119.4(POLR3E):c.118G>C (p.Asp40His)	POLR3E (D4H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1684662	NC_000016.10:g.21936825_22429665del	CDR2, LOC130058629 +35 more	Deletion	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1341992	GRCh37/hg19 16p12.2(chr16:21837492-22407931)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 1341020	GRCh37/hg19 16p12.2(chr16:21761404-22431357)x3	CDR2, EEF2K +8 more	Copy number gain	not provided	GUncertain significance
Select item 1341018	GRCh37/hg19 16p12.2(chr16:21931247-22431128)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340395	GRCh37/hg19 16p12.2(chr16:21761405-22710614)x3	CDR2, EEF2K +9 more	Copy number gain	not provided	GUncertain significance
Select item 1339937	GRCh37/hg19 16p12.2(chr16:21571710-22428364)x3	CDR2, EEF2K +10 more	Copy number gain	not provided	Gnot provided
Select item 1330202	GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1	CDR2, EEF2K +9 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330200	GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1	CDR2, EEF2K +7 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330186	GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1	CDR2, EEF2K +9 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330175	GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1	CDR2, EEF2K +9 more	Copy number loss	Impulsivity +4 more	GPathogenic
Select item 1330168	GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 1172567	GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1	MOSMO, POLR3E +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 997048	GRCh37/hg19 16p12.2(chr16:21951379-22407931)	CDR2, EEF2K +6 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 988930	GRCh37/hg19 16p12.2(chr16:21946438-22441358)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980072	GRCh37/hg19 16p12.2(chr16:21931247-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance

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