"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NUBPL"[ - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 881212	NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg)	NUBPL (G2R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21 +2 more	GConflicting classifications of pathogenicity
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 1916777	NM_025152.3(NUBPL):c.74T>C (p.Leu25Pro)	NUBPL (L25P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1460476	NM_025152.3(NUBPL):c.86G>A (p.Arg29Gln)	NUBPL (R29Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723222	NM_025152.3(NUBPL):c.105C>A (p.Arg35=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992333	NM_025152.3(NUBPL):c.108+7G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1125846	NM_025152.3(NUBPL):c.108+14C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506348	NM_025152.3(NUBPL):c.109-22TTA[3]	NUBPL	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 2023039	NM_025152.3(NUBPL):c.117C>T (p.Gly39=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2816858	NM_025152.3(NUBPL):c.163C>T (p.Arg55Ter)	NUBPL (R55*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 214885	NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg)	NUBPL (G56R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1938838	NM_025152.3(NUBPL):c.179A>G (p.Gln60Arg)	NUBPL (Q60R)	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 2722225	NM_025152.3(NUBPL):c.192A>G (p.Glu64=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734170	NM_025152.3(NUBPL):c.198T>A (p.Val66=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1935073	NM_025152.3(NUBPL):c.201A>G (p.Lys67=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21 +1 more	GConflicting classifications of pathogenicity
Select item 2013785	NM_025152.3(NUBPL):c.210A>G (p.Ile70Met)	NUBPL (I70M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192891	NM_025152.3(NUBPL):c.218C>A (p.Ala73Asp)	NUBPL (A73D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1666352	NM_025152.3(NUBPL):c.237C>G (p.Val79=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1438457	NM_025152.3(NUBPL):c.256+6A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2073613	NM_025152.3(NUBPL):c.260A>G (p.Asn87Ser)	NUBPL (N87S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 313022	NM_025152.3(NUBPL):c.285C>T (p.Asn95=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
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 1896840	NM_025152.3(NUBPL):c.291G>A (p.Ser97=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2023914	NM_025152.3(NUBPL):c.292-17T>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1499180	NM_025152.3(NUBPL):c.298G>A (p.Ala100Thr)	NUBPL (A100T +1 more)	Single nucleotide variant (missense variant +1 more)	NUBPL-related disorder +1 more	GUncertain significance
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 1630845	NM_025152.3(NUBPL):c.324G>A (p.Val108=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2006688	NM_025152.3(NUBPL):c.345G>A (p.Lys115=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 313024	NM_025152.3(NUBPL):c.369G>A (p.Pro123=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1361043	NM_025152.3(NUBPL):c.382+3A>G	NUBPL	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1625989	NM_025152.3(NUBPL):c.383-6_383-5dup	NUBPL	Duplication (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 1530899	NM_025152.3(NUBPL):c.383-16_383-15insC	NUBPL	Insertion (intron variant)	not provided	GLikely benign
Select item 1165269	NM_025152.3(NUBPL):c.383-5del	NUBPL	Deletion (intron variant)	not provided	GBenign
Select item 2414051	NM_025152.3(NUBPL):c.383-5T>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 313025	NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn)	NUBPL (S128N +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 214876	NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp)	NUBPL (G138D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1939023	NM_025152.3(NUBPL):c.414T>G (p.Gly138=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2955173	NM_025152.3(NUBPL):c.423-1G>T	NUBPL	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1388237	NM_025152.3(NUBPL):c.423T>A (p.Cys141Ter)	NUBPL (C141* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1362166	NM_025152.3(NUBPL):c.460G>A (p.Val154Ile)	NUBPL (V58I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2962647	NM_025152.3(NUBPL):c.474C>A (p.Gly158=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214879	NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu)	NUBPL (S163L +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 738281	NM_025152.3(NUBPL):c.504G>A (p.Leu168=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1905606	NM_025152.3(NUBPL):c.513+19A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214874	NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)	NUBPL (V182A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1909758	NM_025152.3(NUBPL):c.549C>T (p.Asp183=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2045824	NM_025152.3(NUBPL):c.579A>G (p.Leu193=)	NUBPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214875	NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr)	NUBPL (N198T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1468452	NM_025152.3(NUBPL):c.607+3A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2008665	NM_025152.3(NUBPL):c.608-13T>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092523	NM_025152.3(NUBPL):c.608-8T>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741088	NM_025152.3(NUBPL):c.627G>A (p.Thr209=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1947466	NM_025152.3(NUBPL):c.662G>T (p.Gly221Val)	NUBPL (G125V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2015913	NM_025152.3(NUBPL):c.677G>C (p.Arg226Pro)	NUBPL (R130P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1429015	NM_025152.3(NUBPL):c.682G>A (p.Val228Ile)	NUBPL (V132I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	Mitochondrial complex 1 deficiency, nuclear type 21 +1 more	GPathogenic/Likely pathogenic
Select item 1610977	NM_025152.3(NUBPL):c.693+7G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414125	NM_025152.3(NUBPL):c.693+10_693+17del	NUBPL	Deletion (intron variant)	not provided	GLikely benign
Select item 1916048	NM_025152.3(NUBPL):c.693+18C>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382031	NM_025152.3(NUBPL):c.693+19A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1897194	NM_025152.3(NUBPL):c.694-20T>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117073	NM_025152.3(NUBPL):c.763G>A (p.Gly255Ser)	NUBPL (G255S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2013786	NM_025152.3(NUBPL):c.792G>C (p.Gln264His)	NUBPL (Q264H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1966117	NM_025152.3(NUBPL):c.814+16G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659020	NM_025152.3(NUBPL):c.815-15G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832207	NM_025152.3(NUBPL):c.864G>A (p.Gln288=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899711	NM_025152.3(NUBPL):c.875T>G (p.Phe292Cys)	NUBPL (F196C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976652	NM_025152.3(NUBPL):c.895G>C (p.Glu299Gln)	NUBPL (E116Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2090367	NM_025152.3(NUBPL):c.898-16G>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085361	NM_025152.3(NUBPL):c.920C>T (p.Ala307Val)	NUBPL (A124V +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 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2426928	NC_000014.8:g.(?_32319298)_(32328386_?)del	NUBPL	Deletion	not provided	GUncertain significance
Select item 2426927	NC_000014.8:g.(?_32068475)_(32068605_?)del	NUBPL	Deletion	not provided	GUncertain significance
Select item 2426926	NC_000014.8:g.(?_32319298)_(32319427_?)del	NUBPL	Deletion	not provided	GUncertain significance

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Items: 86