ClinVar for Gene (Select 116447) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328047	NM_052963.3(TOP1MT):c.721C>A (p.Arg241Ser)	TOP1MT (R143S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3328044	NM_052963.3(TOP1MT):c.979A>C (p.Asn327His)	TOP1MT (N229H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3245608	NC_000008.10:g.(?_144391611)_(144400276_?)del	TOP1MT	Deletion	not provided	GUncertain significance
Select item 3181174	NM_052963.3(TOP1MT):c.908C>G (p.Ser303Cys)	TOP1MT (S303C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181173	NM_052963.3(TOP1MT):c.860G>A (p.Arg287Gln)	TOP1MT (R189Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181172	NM_052963.3(TOP1MT):c.859C>T (p.Arg287Trp)	TOP1MT (R287W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181171	NM_052963.3(TOP1MT):c.77G>A (p.Arg26Gln)	TOP1MT (R26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181169	NM_052963.3(TOP1MT):c.575A>C (p.Glu192Ala)	TOP1MT (E94A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181168	NM_052963.3(TOP1MT):c.454C>T (p.Arg152Trp)	TOP1MT (R152W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181167	NM_052963.3(TOP1MT):c.41C>G (p.Thr14Arg)	TOP1MT (T14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181166	NM_052963.3(TOP1MT):c.221T>C (p.Val74Ala)	TOP1MT (V74A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 3181159	NM_052963.3(TOP1MT):c.101C>T (p.Thr34Met)	TOP1MT (T34M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 3012072	NM_052963.3(TOP1MT):c.593G>A (p.Arg198His)	TOP1MT (R198H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009644	NM_052963.3(TOP1MT):c.839T>C (p.Phe280Ser)	TOP1MT (F280S +1 more)	Single nucleotide variant (missense variant)	not provided	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 3000961	NM_052963.3(TOP1MT):c.327T>C (p.Val109=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995591	NM_052963.3(TOP1MT):c.842A>G (p.Glu281Gly)	TOP1MT (E281G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991479	NM_052963.3(TOP1MT):c.799C>A (p.Pro267Thr)	TOP1MT (P267T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990842	NM_052963.3(TOP1MT):c.782A>G (p.Lys261Arg)	TOP1MT (K163R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987549	NM_052963.3(TOP1MT):c.28C>T (p.Arg10Trp)	TOP1MT (R10W)	Single nucleotide variant (missense variant +1 more)	not provided	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 2975385	NM_052963.3(TOP1MT):c.961-9A>C	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 2972547	NM_052963.3(TOP1MT):c.1331-11G>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959760	NM_052963.3(TOP1MT):c.806C>T (p.Ser269Leu)	TOP1MT (S171L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959733	NM_052963.3(TOP1MT):c.238+17C>T	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957477	NM_052963.3(TOP1MT):c.671+15G>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2955725	NM_052963.3(TOP1MT):c.239-11G>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920310	NM_052963.3(TOP1MT):c.447C>T (p.Ala149=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894700	NM_052963.3(TOP1MT):c.258C>T (p.Ser86=)	TOP1MT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2885264	NM_052963.3(TOP1MT):c.923_925del (p.Thr308del)	TOP1MT (T210del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2873419	NM_052963.3(TOP1MT):c.613A>G (p.Lys205Glu)	TOP1MT (K107E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870896	NM_052963.3(TOP1MT):c.84C>T (p.Val28=)	TOP1MT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860586	NM_052963.3(TOP1MT):c.32C>T (p.Ala11Val)	TOP1MT (A11V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817085	NM_052963.3(TOP1MT):c.1558C>T (p.Leu520=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2799302	NM_052963.3(TOP1MT):c.817-6G>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791550	NM_052963.3(TOP1MT):c.475G>A (p.Glu159Lys)	TOP1MT (E159K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754050	NM_052963.3(TOP1MT):c.671+5G>T	TOP1MT	Single nucleotide variant (intron variant)	not provided	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 2742705	NM_052963.3(TOP1MT):c.503A>G (p.Glu168Gly)	TOP1MT (E168G +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 2741024	NM_052963.3(TOP1MT):c.816+7G>A	TOP1MT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730536	NM_052963.3(TOP1MT):c.671+4C>T	TOP1MT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2724544	NM_052963.3(TOP1MT):c.985_987del (p.Lys329del)	TOP1MT (K231del +1 more)	Deletion (inframe_deletion)	not provided	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 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 2722300	NM_052963.3(TOP1MT):c.817G>T (p.Gly273Trp)	TOP1MT (G175W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715736	NM_052963.3(TOP1MT):c.1281C>G (p.Thr427=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2711626	NM_052963.3(TOP1MT):c.1287C>T (p.Asn429=)	TOP1MT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704019	NM_052963.3(TOP1MT):c.86C>G (p.Pro29Arg)	TOP1MT (P29R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684561	GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3	EEF1D, GFUS +14 more	Copy number gain	not provided	GUncertain significance
Select item 2684558	GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3	ARC, CYP11B1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658893	NM_052963.3(TOP1MT):c.267G>A (p.Ala89=)	TOP1MT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 2543064	NM_052963.3(TOP1MT):c.922A>C (p.Thr308Pro)	TOP1MT (T210P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540495	NM_052963.3(TOP1MT):c.148G>A (p.Gly50Arg)	TOP1MT (G50R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 2518450	NM_052963.3(TOP1MT):c.994G>A (p.Gly332Ser)	TOP1MT (G234S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511812	NM_052963.3(TOP1MT):c.893G>A (p.Arg298Gln)	TOP1MT (R200Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2490173	NM_052963.3(TOP1MT):c.221T>G (p.Val74Gly)	TOP1MT (V74G)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2475333	NM_052963.3(TOP1MT):c.607C>T (p.His203Tyr)	TOP1MT (H203Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463673	NM_052963.3(TOP1MT):c.259G>A (p.Val87Met)	TOP1MT (V87M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 2456616	NM_052963.3(TOP1MT):c.718G>T (p.Val240Leu)	TOP1MT (V142L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455647	NM_052963.3(TOP1MT):c.649G>C (p.Asp217His)	TOP1MT (D119H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427157	NC_000008.10:g.(?_144391611)_(144417031_?)dup	TOP1MT	Duplication	not provided	GUncertain significance
Select item 2421306	NM_052963.3(TOP1MT):c.790A>G (p.Met264Val)	TOP1MT (M166V +1 more)	Single nucleotide variant (missense variant)	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 2419157	NM_052963.3(TOP1MT):c.1804T>A (p.Ter602Lys)	TOP1MT	Single nucleotide variant (stop lost)	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 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 2399588	NM_052963.3(TOP1MT):c.64C>T (p.Arg22Cys)	TOP1MT (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388739	NM_052963.3(TOP1MT):c.224G>A (p.Arg75His)	TOP1MT (R75H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 2340937	NM_052963.3(TOP1MT):c.403A>G (p.Lys135Glu)	TOP1MT (K37E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333057	NM_052963.3(TOP1MT):c.231C>G (p.Phe77Leu)	TOP1MT (F77L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 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 2298282	NM_052963.3(TOP1MT):c.331C>T (p.Arg111Trp)	TOP1MT (R111W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 2292576	NM_052963.3(TOP1MT):c.527A>C (p.Tyr176Ser)	TOP1MT (Y78S +1 more)	Single nucleotide variant (missense variant)	not specified	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

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