"GeneDx"[submitter] AND "NUBPL"[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 1283520	NC_000014.9:g.31561084del	NUBPL, NUBPL-DT	Deletion	not provided	GBenign
Select item 1234109	NC_000014.9:g.31561189T>G	NUBPL, NUBPL-DT	Single nucleotide variant	not provided	GBenign
Select item 313017	NM_025152.3(NUBPL):c.-13A>G	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 313018	NM_025152.3(NUBPL):c.-7C>T	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 138567	NM_025152.3(NUBPL):c.-1C>T	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 546384	NM_025152.3(NUBPL):c.35G>A (p.Gly12Glu)	NUBPL (G12E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2189026	NM_025152.3(NUBPL):c.61G>A (p.Ala21Thr)	NUBPL (A21T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3342423	NM_025152.3(NUBPL):c.64A>G (p.Thr22Ala)	NUBPL (T22A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 881214	NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu)	NUBPL (P24L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282798	NM_025152.3(NUBPL):c.77G>T (p.Gly26Val)	NUBPL (G26V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1199072	NM_025152.3(NUBPL):c.108+217G>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198691	NM_025152.3(NUBPL):c.109-103G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232898	NM_025152.3(NUBPL):c.109-29C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506348	NM_025152.3(NUBPL):c.109-22TTA[3]	NUBPL	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 513251	NM_025152.3(NUBPL):c.135A>G (p.Leu45=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 214880	NM_025152.3(NUBPL):c.140A>G (p.Gln47Arg)	NUBPL (Q47R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214881	NM_025152.3(NUBPL):c.145A>G (p.Arg49Gly)	NUBPL (R49G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214871	NM_025152.3(NUBPL):c.162C>T (p.Ser54=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214885	NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg)	NUBPL (G56R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214872	NM_025152.3(NUBPL):c.167G>A (p.Gly56Glu)	NUBPL (G56E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2049555	NM_025152.3(NUBPL):c.176A>G (p.Lys59Arg)	NUBPL (K59R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 681127	NM_025152.3(NUBPL):c.186G>T (p.Pro62=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214884	NM_025152.3(NUBPL):c.201_202insG (p.Gln68fs)	NUBPL (Q68fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1187969	NM_025152.3(NUBPL):c.217G>T (p.Ala73Ser)	NUBPL (A73S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 214873	NM_025152.3(NUBPL):c.256+14T>C	NUBPL	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1251914	NM_025152.3(NUBPL):c.257-293del	NUBPL	Deletion (intron variant)	not provided	GBenign
Select item 1290656	NM_025152.3(NUBPL):c.257-73A>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 313023	NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn)	NUBPL (D96N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 214886	NM_025152.3(NUBPL):c.290C>T (p.Ser97Leu)	NUBPL (S97L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1204257	NM_025152.3(NUBPL):c.291+12585C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231230	NM_025152.3(NUBPL):c.291+12963T>C	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 683212	NM_025152.3(NUBPL):c.291+13196C>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683233	NM_025152.3(NUBPL):c.292-280A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671489	NM_025152.3(NUBPL):c.292-253A>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 209179	NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro)	NUBPL (L104P +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +3 more	GPathogenic/Likely pathogenic
Select item 1303465	NM_025152.3(NUBPL):c.316G>A (p.Val106Met)	NUBPL (V106M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214883	NM_025152.3(NUBPL):c.376T>C (p.Ser126Pro)	NUBPL (S126P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1226145	NM_025152.3(NUBPL):c.383-132G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294282	NM_025152.3(NUBPL):c.383-67del	NUBPL	Deletion (intron variant)	not provided	GBenign
Select item 214870	NM_025152.3(NUBPL):c.383-24AG[2]	NUBPL	Microsatellite (intron variant)	not provided	GBenign
Select item 1166960	NM_025152.3(NUBPL):c.383-5dup	NUBPL	Duplication (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 21 +1 more	GBenign
Select item 1165269	NM_025152.3(NUBPL):c.383-5del	NUBPL	Deletion (intron variant)	not provided	GBenign
Select item 387762	NM_025152.3(NUBPL):c.422+8T>C	NUBPL	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 391437	NM_025152.3(NUBPL):c.422+13A>G	NUBPL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 214878	NM_025152.3(NUBPL):c.426G>A (p.Met142Ile)	NUBPL (M142I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 514438	NM_025152.3(NUBPL):c.459A>C (p.Pro153=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1270261	NM_025152.3(NUBPL):c.513+121C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683234	NM_025152.3(NUBPL):c.513+150A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240606	NM_025152.3(NUBPL):c.513+40918T>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329773	NM_025152.3(NUBPL):c.513+41027C>T	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1294418	NM_025152.3(NUBPL):c.513+41068C>T	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1260487	NM_025152.3(NUBPL):c.513+41069A>G	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1268552	NM_025152.3(NUBPL):c.513+41190A>T	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 669937	NM_025152.3(NUBPL):c.514-275A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683236	NM_025152.3(NUBPL):c.514-271G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212613	NM_025152.3(NUBPL):c.514-103G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671667	NM_025152.3(NUBPL):c.514-32A>G	NUBPL	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 21 +1 more	GBenign
Select item 432144	NM_025152.3(NUBPL):c.526C>T (p.Gln176Ter)	NUBPL (Q176* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 214874	NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)	NUBPL (V182A +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1205646	NM_025152.3(NUBPL):c.607+274del	NUBPL	Deletion (intron variant)	not provided	GLikely benign
Select item 1195627	NM_025152.3(NUBPL):c.608-192A>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239687	NM_025152.3(NUBPL):c.608-63T>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378308	NM_025152.3(NUBPL):c.608-16G>A	NUBPL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2663480	NM_025152.3(NUBPL):c.611C>T (p.Ala204Val)	NUBPL (A108V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 313029	NM_025152.3(NUBPL):c.639C>T (p.Ile213=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 214882	NM_025152.3(NUBPL):c.685C>T (p.His229Tyr)	NUBPL (H229Y +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 50216	NM_025152.3(NUBPL):c.693+1G>A	NUBPL	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 382031	NM_025152.3(NUBPL):c.693+19A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1294417	NM_025152.3(NUBPL):c.693+98A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243874	NM_025152.3(NUBPL):c.693+142_693+144del	NUBPL	Deletion (intron variant)	not provided	GBenign
Select item 1294413	NM_025152.3(NUBPL):c.693+145A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241240	NM_025152.3(NUBPL):c.693+147A>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683237	NM_025152.3(NUBPL):c.693+236G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254173	NM_025152.3(NUBPL):c.694-218_694-217del	NUBPL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1244170	NM_025152.3(NUBPL):c.694-206del	NUBPL	Deletion (intron variant)	not provided	GBenign
Select item 817927	NM_025152.3(NUBPL):c.774dup (p.Ala259fs)	NUBPL (A76fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1294415	NM_025152.3(NUBPL):c.814+104A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669525	NM_025152.3(NUBPL):c.814+192T>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673316	NM_025152.3(NUBPL):c.815-180A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671668	NM_025152.3(NUBPL):c.815-92G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671669	NM_025152.3(NUBPL):c.815-84T>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 50317	NM_025152.3(NUBPL):c.815-27T>C	NUBPL	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 676163	NM_025152.3(NUBPL):c.897+81C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669941	NM_025152.3(NUBPL):c.897+155A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683238	NM_025152.3(NUBPL):c.897+164A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287730	NM_025152.3(NUBPL):c.898-212C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669526	NM_025152.3(NUBPL):c.898-160G>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298061	NM_025152.3(NUBPL):c.898-92C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2497840	NM_025152.3(NUBPL):c.927A>T (p.Glu309Asp)	NUBPL (E126D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807105	NM_025152.3(NUBPL):c.956A>G (p.Glu319Gly)	NUBPL (E223G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 883616	NM_025152.3(NUBPL):c.*26C>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GLikely benign
Select item 313032	NM_025152.3(NUBPL):c.*122G>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 313035	NM_025152.3(NUBPL):c.*273C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign

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Items: 96