TOP1MT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 2419157	NM_052963.3(TOP1MT):c.1804T>A (p.Ter602Lys)	TOP1MT	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2419158	NM_052963.3(TOP1MT):c.1800_1802del (p.Glu600_Phe601delinsAsp)	TOP1MT	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1633361	NM_052963.3(TOP1MT):c.1779C>T (p.Ala593=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2400314	NM_052963.3(TOP1MT):c.1777G>A (p.Ala593Thr)	TOP1MT (A593T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1647906	NM_052963.3(TOP1MT):c.1754G>A (p.Arg585Gln)	TOP1MT (R487Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3181165	NM_052963.3(TOP1MT):c.1753C>T (p.Arg585Trp)	TOP1MT (R585W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482843	NM_052963.3(TOP1MT):c.1751A>C (p.Gln584Pro)	TOP1MT (Q584P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534013	NM_052963.3(TOP1MT):c.1712G>A (p.Arg571Gln)	TOP1MT (R473Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2957203	NM_052963.3(TOP1MT):c.1706G>A (p.Cys569Tyr)	TOP1MT (C471Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717294	NM_052963.3(TOP1MT):c.1704-5C>T	TOP1MT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599764	NM_052963.3(TOP1MT):c.1704-15T>C	TOP1MT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1584357	NM_052963.3(TOP1MT):c.1703+16del	TOP1MT	Deletion (intron variant)	not provided	GBenign
Select item 2308040	NM_052963.3(TOP1MT):c.1699G>A (p.Ala567Thr)	TOP1MT (A469T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1617280	NM_052963.3(TOP1MT):c.1662G>A (p.Thr554=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966568	NM_052963.3(TOP1MT):c.1661C>G (p.Thr554Arg)	TOP1MT (T456R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987605	NM_052963.3(TOP1MT):c.1609C>T (p.Leu537=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170208	NM_052963.3(TOP1MT):c.1605G>A (p.Ala535=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421925	NM_052963.3(TOP1MT):c.1597C>T (p.Gln533Ter)	TOP1MT (Q533* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2247150	NM_052963.3(TOP1MT):c.1584G>C (p.Glu528Asp)	TOP1MT (E430D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1645532	NM_052963.3(TOP1MT):c.1573C>T (p.Arg525Trp)	TOP1MT (R427W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2817085	NM_052963.3(TOP1MT):c.1558C>T (p.Leu520=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644730	NM_052963.3(TOP1MT):c.1554-18C>T	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949816	NM_052963.3(TOP1MT):c.1553+12T>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071290	NM_052963.3(TOP1MT):c.1553+10C>T	TOP1MT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3328045	NM_052963.3(TOP1MT):c.1523A>G (p.His508Arg)	TOP1MT (H410R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609970	NM_052963.3(TOP1MT):c.1520A>T (p.Glu507Val)	TOP1MT (E507V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181163	NM_052963.3(TOP1MT):c.1515G>T (p.Arg505Ser)	TOP1MT (R407S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3006998	NM_052963.3(TOP1MT):c.1511C>T (p.Ala504Val)	TOP1MT (A406V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901175	NM_052963.3(TOP1MT):c.1503G>T (p.Leu501=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1949057	NM_052963.3(TOP1MT):c.1502T>C (p.Leu501Pro)	TOP1MT (L501P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742120	NM_052963.3(TOP1MT):c.1455G>A (p.Thr485=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3181162	NM_052963.3(TOP1MT):c.1448T>C (p.Leu483Pro)	TOP1MT (L483P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1557263	NM_052963.3(TOP1MT):c.1436C>T (p.Ser479Leu)	TOP1MT (S381L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2722442	NM_052963.3(TOP1MT):c.1424C>T (p.Thr475Met)	TOP1MT (T475M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930211	NM_052963.3(TOP1MT):c.1421G>A (p.Ser474Asn)	TOP1MT (S376N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1955974	NM_052963.3(TOP1MT):c.1415C>T (p.Thr472Ile)	TOP1MT (T472I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522949	NM_052963.3(TOP1MT):c.1408C>T (p.Arg470Ter)	TOP1MT (R470* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2802215	NM_052963.3(TOP1MT):c.1370G>A (p.Arg457Gln)	TOP1MT (R457Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602945	NM_052963.3(TOP1MT):c.1370G>C (p.Arg457Pro)	TOP1MT (R359P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2711786	NM_052963.3(TOP1MT):c.1369C>G (p.Arg457Gly)	TOP1MT (R359G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161755	NM_052963.3(TOP1MT):c.1369C>T (p.Arg457Ter)	TOP1MT (R359* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2408519	NM_052963.3(TOP1MT):c.1333G>A (p.Glu445Lys)	TOP1MT (E445K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2744204	NM_052963.3(TOP1MT):c.1332C>T (p.Ala444=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972547	NM_052963.3(TOP1MT):c.1331-11G>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601747	NM_052963.3(TOP1MT):c.1330+7_1330+8inv	TOP1MT	Inversion (intron variant)	not provided	GBenign
Select item 2148229	NM_052963.3(TOP1MT):c.1329C>T (p.Arg443=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1957606	NM_052963.3(TOP1MT):c.1328G>A (p.Arg443His)	TOP1MT (R443H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589261	NM_052963.3(TOP1MT):c.1326G>A (p.Thr442=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2194744	NM_052963.3(TOP1MT):c.1323G>A (p.Leu441=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312723	NM_052963.3(TOP1MT):c.1316G>A (p.Arg439Gln)	TOP1MT (R439Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2723146	NM_052963.3(TOP1MT):c.1300C>T (p.Leu434=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711626	NM_052963.3(TOP1MT):c.1287C>T (p.Asn429=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715736	NM_052963.3(TOP1MT):c.1281C>G (p.Thr427=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459200	NM_052963.3(TOP1MT):c.1277G>A (p.Arg426Gln)	TOP1MT (R328Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2980024	NM_052963.3(TOP1MT):c.1276C>T (p.Arg426Trp)	TOP1MT (R426W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071354	NM_052963.3(TOP1MT):c.1265C>T (p.Ala422Val)	TOP1MT (A324V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2343003	NM_052963.3(TOP1MT):c.1234C>T (p.His412Tyr)	TOP1MT (H314Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1637280	NM_052963.3(TOP1MT):c.1230C>T (p.Asn410=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2059782	NM_052963.3(TOP1MT):c.1216-6C>T	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648237	NM_052963.3(TOP1MT):c.1216-14A>G	TOP1MT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1601261	NM_052963.3(TOP1MT):c.1215+8G>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2085856	NM_052963.3(TOP1MT):c.1194C>T (p.Asp398=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3328043	NM_052963.3(TOP1MT):c.1186C>A (p.Pro396Thr)	TOP1MT (P298T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221510	NM_052963.3(TOP1MT):c.1171A>G (p.Met391Val)	TOP1MT (M391V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2074792	NM_052963.3(TOP1MT):c.1149G>A (p.Val383=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1989016	NM_052963.3(TOP1MT):c.1147-17C>T	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975083	NM_052963.3(TOP1MT):c.1146+13G>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187236	NM_052963.3(TOP1MT):c.1146G>C (p.Pro382=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3181161	NM_052963.3(TOP1MT):c.1133C>A (p.Pro378Gln)	TOP1MT (P378Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549481	NM_052963.3(TOP1MT):c.1125C>G (p.Asn375Lys)	TOP1MT (N277K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181160	NM_052963.3(TOP1MT):c.1115G>A (p.Arg372His)	TOP1MT (R274H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 869198	NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro)	TOP1MT (R274P +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 2712034	NM_052963.3(TOP1MT):c.1099G>T (p.Gly367Trp)	TOP1MT (G269W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026816	NM_052963.3(TOP1MT):c.1093T>G (p.Phe365Val)	TOP1MT (F365V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2294833	NM_052963.3(TOP1MT):c.1088T>A (p.Phe363Tyr)	TOP1MT (F265Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544850	NM_052963.3(TOP1MT):c.1081G>C (p.Val361Leu)	TOP1MT (V361L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1529061	NM_052963.3(TOP1MT):c.1068C>T (p.Gly356=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GBenign

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