ClinVar for Gene (Select 80224) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3301344	NM_025152.3(NUBPL):c.522G>C (p.Trp174Cys)	NUBPL (W78C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3301343	NM_025152.3(NUBPL):c.688G>A (p.Val230Met)	NUBPL (V47M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3301342	NM_025152.3(NUBPL):c.41C>T (p.Ser14Leu)	NUBPL (S14L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3301341	NM_025152.3(NUBPL):c.407A>G (p.Asn136Ser)	NUBPL (N136S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3202711	NM_025152.3(NUBPL):c.721G>C (p.Val241Leu)	NUBPL (V145L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202710	NM_025152.3(NUBPL):c.569A>T (p.Asp190Val)	NUBPL (D7V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202709	NM_025152.3(NUBPL):c.169C>G (p.Leu57Val)	NUBPL (L57V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065262	NM_025152.3(NUBPL):c.468G>T (p.Trp156Cys)	NUBPL (W156C +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2992333	NM_025152.3(NUBPL):c.108+7G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2955173	NM_025152.3(NUBPL):c.423-1G>T	NUBPL	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2816858	NM_025152.3(NUBPL):c.163C>T (p.Arg55Ter)	NUBPL (R55*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2722225	NM_025152.3(NUBPL):c.192A>G (p.Glu64=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685481	GRCh37/hg19 14q12(chr14:32023559-32313036)x1	NUBPL	Copy number loss	not provided	GUncertain significance
Select item 2684720	GRCh37/hg19 14q12(chr14:31841456-32165895)x3	DTD2, GPR33 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2682369	NC_000014.8:g.(32142781_32256985)_(32257080_32295834)del	NUBPL	Deletion	Mitochondrial complex 1 deficiency, nuclear type 21	GPathogenic
Select item 2671721	NM_025152.3(NUBPL):c.893A>C (p.Asp298Ala)	NUBPL (D115A +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
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 2627223	NM_025152.3(NUBPL):c.423-1G>A	NUBPL	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 21	GLikely pathogenic
Select item 2592965	NM_025152.3(NUBPL):c.523G>A (p.Gly175Ser)	NUBPL (G175S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2577163	NC_000014.8:g.(32315798_32319324)_(32319408_32328323)del	NUBPL	Deletion	not specified	GUncertain significance
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 2489822	NM_025152.3(NUBPL):c.601A>G (p.Ile201Val)	NUBPL (I105V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434463	NM_025152.3(NUBPL):c.514-19835C>A	NUBPL	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 2434462	NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter)	NUBPL (L103* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
Select item 2434461	NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)	NUBPL (N129S +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GUncertain significance
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
Select item 2414125	NM_025152.3(NUBPL):c.693+10_693+17del	NUBPL	Deletion (intron variant)	not provided	GLikely benign
Select item 2414051	NM_025152.3(NUBPL):c.383-5T>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2405017	NM_025152.3(NUBPL):c.430A>G (p.Met144Val)	NUBPL (M144V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329360	NM_025152.3(NUBPL):c.17G>A (p.Arg6His)	NUBPL (R6H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321103	NM_025152.3(NUBPL):c.652G>A (p.Ala218Thr)	NUBPL (A122T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230776	NM_025152.3(NUBPL):c.109-4A>G	NUBPL	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 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 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 2092523	NM_025152.3(NUBPL):c.608-8T>C	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 2045824	NM_025152.3(NUBPL):c.579A>G (p.Leu193=)	NUBPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023914	NM_025152.3(NUBPL):c.292-17T>C	NUBPL	Single nucleotide variant (intron variant)	not provided	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 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 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 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 2008665	NM_025152.3(NUBPL):c.608-13T>G	NUBPL	Single nucleotide variant (intron variant)	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 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 1966117	NM_025152.3(NUBPL):c.814+16G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1939023	NM_025152.3(NUBPL):c.414T>G (p.Gly138=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1916048	NM_025152.3(NUBPL):c.693+18C>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1905606	NM_025152.3(NUBPL):c.513+19A>G	NUBPL	Single nucleotide variant (intron variant)	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 1897194	NM_025152.3(NUBPL):c.694-20T>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
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 1659020	NM_025152.3(NUBPL):c.815-15G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1625989	NM_025152.3(NUBPL):c.383-6_383-5dup	NUBPL	Duplication (intron variant)	not provided	GBenign
Select item 1610977	NM_025152.3(NUBPL):c.693+7G>A	NUBPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530899	NM_025152.3(NUBPL):c.383-16_383-15insC	NUBPL	Insertion (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 1468452	NM_025152.3(NUBPL):c.607+3A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1438457	NM_025152.3(NUBPL):c.256+6A>G	NUBPL	Single nucleotide variant (intron variant)	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 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 1361043	NM_025152.3(NUBPL):c.382+3A>G	NUBPL	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 1298061	NM_025152.3(NUBPL):c.898-92C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
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 1294417	NM_025152.3(NUBPL):c.693+98A>G	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294415	NM_025152.3(NUBPL):c.814+104A>G	NUBPL	Single nucleotide variant (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 1294282	NM_025152.3(NUBPL):c.383-67del	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 1287730	NM_025152.3(NUBPL):c.898-212C>T	NUBPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283520	NC_000014.9:g.31561084del	NUBPL, NUBPL-DT	Deletion	not provided	GBenign
Select item 1270261	NM_025152.3(NUBPL):c.513+121C>T	NUBPL	Single nucleotide variant (intron variant)	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

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