"GeneDx"[submitter] AND "TNPO3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1308080	NM_012470.4(TNPO3):c.2765_*2del (p.Phe922fs)	TNPO3 (F858fs +7 more)	Deletion (frameshift variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 282446	NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)	TNPO3 (A914V +7 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GConflicting classifications of pathogenicity
Select item 670796	NM_012470.4(TNPO3):c.2712-218A>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187450	NM_012470.4(TNPO3):c.2712-267A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201390	NM_012470.4(TNPO3):c.2711+287G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423214	NM_012470.4(TNPO3):c.2676C>G (p.His892Gln)	TNPO3 (H892Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 260265	NM_012470.4(TNPO3):c.2661C>T (p.Ala887=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +2 more	GBenign
Select item 282630	NM_012470.4(TNPO3):c.2652C>T (p.Thr884=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1314909	NM_012470.4(TNPO3):c.2603T>C (p.Phe868Ser)	TNPO3 (F804S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1203612	NM_012470.4(TNPO3):c.2599-78G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209169	NM_012470.4(TNPO3):c.2599-268C>T	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194340	NM_012470.4(TNPO3):c.2598+245A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265274	NM_012470.4(TNPO3):c.2542del (p.Tyr848fs)	TNPO3 (Y784fs +7 more)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +2 more	GConflicting classifications of pathogenicity
Select item 291206	NM_012470.4(TNPO3):c.2431-6A>C	TNPO3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1295592	NM_012470.4(TNPO3):c.2431-115T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672850	NM_012470.4(TNPO3):c.2430+199dup	TNPO3	Duplication (intron variant)	not provided	GLikely benign
Select item 1201969	NM_012470.4(TNPO3):c.2430+154A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512952	NM_012470.4(TNPO3):c.2406C>G (p.Leu802=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 508200	NM_012470.4(TNPO3):c.2385C>T (p.Val795=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 260264	NM_012470.4(TNPO3):c.2358G>A (p.Leu786=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 430036	NM_012470.4(TNPO3):c.2351C>T (p.Thr784Ile)	TNPO3 (T784I +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314741	NM_012470.4(TNPO3):c.2314del (p.Val772fs)	TNPO3 (V708fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 260263	NM_012470.4(TNPO3):c.2280T>C (p.Ile760=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +2 more	GBenign/Likely benign
Select item 283491	NM_012470.4(TNPO3):c.2274-5A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GConflicting classifications of pathogenicity
Select item 284887	NM_012470.4(TNPO3):c.2274-10del	TNPO3	Deletion (intron variant)	not provided +2 more	GBenign
Select item 672293	NM_012470.4(TNPO3):c.2273+221_2273+230del	TNPO3	Deletion (intron variant)	not provided	GBenign
Select item 1198094	NM_012470.4(TNPO3):c.2273+133A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384734	NM_012470.4(TNPO3):c.2273+16G>A	TNPO3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 514561	NM_012470.4(TNPO3):c.2256G>T (p.Leu752=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1010592	NM_012470.4(TNPO3):c.2212C>G (p.Gln738Glu)	TNPO3 (Q674E +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 260262	NM_012470.4(TNPO3):c.2205C>T (p.Leu735=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 3371347	NM_012470.4(TNPO3):c.2193del (p.Thr732fs)	TNPO3 (T668fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 672292	NM_012470.4(TNPO3):c.2179-50T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675472	NM_012470.4(TNPO3):c.2178+156_2178+158del	TNPO3	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1186774	NM_012470.4(TNPO3):c.2178+26C>T	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380944	NM_012470.4(TNPO3):c.2154G>T (p.Arg718=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 260261	NM_012470.4(TNPO3):c.2062-12T>G	TNPO3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1202335	NM_012470.4(TNPO3):c.2062-34G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179277	NM_012470.4(TNPO3):c.2061+188G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190853	NM_012470.4(TNPO3):c.2061+179C>T	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179837	NM_012470.4(TNPO3):c.2061+75T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196086	NM_012470.4(TNPO3):c.2061+26G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190115	NM_012470.4(TNPO3):c.2061+18dup	TNPO3	Duplication (intron variant)	not provided	GLikely benign
Select item 389135	NM_012470.4(TNPO3):c.2061+18G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GLikely benign
Select item 507517	NM_012470.4(TNPO3):c.2061+17C>T	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GLikely benign
Select item 388848	NM_012470.4(TNPO3):c.2061+17C>A	TNPO3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1304661	NM_012470.4(TNPO3):c.1999C>T (p.Arg667Cys)	TNPO3 (R603C +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2058366	NM_012470.4(TNPO3):c.1958G>T (p.Arg653Leu)	TNPO3 (R589L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1211019	NM_012470.4(TNPO3):c.1921-205A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670783	NM_012470.4(TNPO3):c.1921-238A>T	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509370	NM_012470.4(TNPO3):c.1899G>A (p.Pro633=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1198201	NM_012470.4(TNPO3):c.1859+242C>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670781	NM_012470.4(TNPO3):c.1859+209dup	TNPO3	Duplication (intron variant)	not provided	GBenign
Select item 1043244	NM_012470.4(TNPO3):c.1841G>A (p.Arg614His)	TNPO3 (R550H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286472	NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val)	TNPO3 (I604V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 673810	NM_012470.4(TNPO3):c.1783-303AAT[3]	TNPO3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 670780	NM_012470.4(TNPO3):c.1782+149G>T	LOC132090782, TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426149	NM_012470.4(TNPO3):c.1782+2dup	TNPO3	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 674432	NM_012470.4(TNPO3):c.1691-114T>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675471	NM_012470.4(TNPO3):c.1690+226T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432704	NM_012470.4(TNPO3):c.1645G>A (p.Asp549Asn)	TNPO3 (D549N +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 284684	NM_012470.4(TNPO3):c.1636C>T (p.Arg546Cys)	TNPO3 (R546C +5 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 452305	NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg)	TNPO3 (K521R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 672849	NM_012470.4(TNPO3):c.1498+22T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315438	NM_012470.4(TNPO3):c.1474G>A (p.Val492Ile)	TNPO3 (V443I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 935994	NM_012470.4(TNPO3):c.1424C>T (p.Thr475Met)	TNPO3 (T427M +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GConflicting classifications of pathogenicity
Select item 450207	NM_012470.4(TNPO3):c.1421A>G (p.His474Arg)	TNPO3 (H474R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691634	NM_012470.4(TNPO3):c.1372A>G (p.Thr458Ala)	TNPO3 (T409A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 670239	NM_012470.4(TNPO3):c.1359-73G>A	TNPO3 (R463H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 670777	NM_012470.4(TNPO3):c.1359-159A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670782	NM_012470.4(TNPO3):c.1266+139A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385745	NM_012470.4(TNPO3):c.1209A>G (p.Val403=)	TNPO3	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GLikely benign
Select item 514560	NM_012470.4(TNPO3):c.1158+17A>G	TNPO3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3343367	NM_012470.4(TNPO3):c.1120C>T (p.His374Tyr)	TNPO3 (H326Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1310468	NM_012470.4(TNPO3):c.1042C>T (p.Arg348Ter)	TNPO3 (R300* +2 more)	Single nucleotide variant (nonsense +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 3363540	NM_012470.4(TNPO3):c.1038del (p.Trp346fs)	TNPO3 (W298fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1200628	NM_012470.4(TNPO3):c.1012-271A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219638	NM_012470.4(TNPO3):c.1012-326C>T	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214593	NM_012470.4(TNPO3):c.1011+322A>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668976	NM_012470.4(TNPO3):c.1011+295T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670775	NM_012470.4(TNPO3):c.1011+190G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670773	NM_012470.4(TNPO3):c.1011+149T>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210477	NM_012470.4(TNPO3):c.1011+148T>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213598	NM_012470.4(TNPO3):c.1011+56T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514857	NM_012470.4(TNPO3):c.1011+20A>G	TNPO3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1696972	NM_012470.4(TNPO3):c.1004A>G (p.Gln335Arg)	TNPO3 (Q287R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1206928	NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser)	TNPO3 (A283S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 389221	NM_012470.4(TNPO3):c.873-3C>T	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GConflicting classifications of pathogenicity
Select item 285330	NM_012470.4(TNPO3):c.857G>A (p.Arg286His)	TNPO3 (R286H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1803348	NM_012470.4(TNPO3):c.783dup (p.Asn262Ter)	TNPO3 (N214* +2 more)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 260268	NM_012470.4(TNPO3):c.759C>G (p.Leu253=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 386396	NM_012470.4(TNPO3):c.738G>A (p.Ser246=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1026289	NM_012470.4(TNPO3):c.697-4_697-3delinsGA	TNPO3	Indel (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 1207162	NM_012470.4(TNPO3):c.697-249C>T	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670772	NM_012470.4(TNPO3):c.696+213G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444642	NM_012470.4(TNPO3):c.688G>T (p.Glu230Ter)	TNPO3 (E230* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 670778	NM_012470.4(TNPO3):c.553-79T>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194431	NM_012470.4(TNPO3):c.553-116T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265457	NM_012470.4(TNPO3):c.553-146del	TNPO3	Deletion (intron variant)	not provided	GBenign

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