NUBPL[gene] - ClinVar - NCBI

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	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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	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 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 560123	Single allele	ARHGAP5-AS1, DTD2 +35 more	Deletion	Mitochondrial complex I deficiency	GUncertain significance
Select item 152033	GRCh38/hg38 14q12(chr14:31402452-31648460)x1	DTD2, GPR33 +9 more	Copy number loss	See cases	GUncertain significance
Select item 153681	GRCh38/hg38 14q12(chr14:31404152-31654707)x1	DTD2, GPR33 +10 more	Copy number loss	See cases	GUncertain significance
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 313015	NM_025152.2(NUBPL):c.-39G>A	NUBPL	Single nucleotide variant	Mitochondrial complex I deficiency	GUncertain significance
Select item 313016	NM_025152.3(NUBPL):c.-25A>G	NUBPL	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
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 517222	NM_025152.3(NUBPL):c.2T>C (p.Met1Thr)	NUBPL (M1T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GLikely pathogenic
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 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 881213	NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe)	NUBPL (L9F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
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 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 313019	NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp)	NUBPL (R16W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	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)	Mitochondrial complex I deficiency, nuclear type 1 +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 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 881679	NM_025152.3(NUBPL):c.90G>A (p.Ala30=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	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 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 313020	NM_025152.3(NUBPL):c.109-11A>T	NUBPL	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	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 2023039	NM_025152.3(NUBPL):c.117C>T (p.Gly39=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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)	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 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 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 313021	NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu)	NUBPL (K67E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1935073	NM_025152.3(NUBPL):c.201A>G (p.Lys67=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214884	NM_025152.3(NUBPL):c.201_202insG (p.Gln68fs)	NUBPL (Q68fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
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 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 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 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 985663	NM_025152.3(NUBPL):c.257-2A>G	NUBPL	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
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 638497	NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr)	NUBPL (A89T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	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 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	GUncertain significance
Select item 881680	NM_025152.3(NUBPL):c.287A>T (p.Asp96Val)	NUBPL (D96V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	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 1896840	NM_025152.3(NUBPL):c.291G>A (p.Ser97=)	NUBPL	Single nucleotide variant (synonymous 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 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 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 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 50215	NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)	NUBPL (D105Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21 +1 more	GConflicting classifications of pathogenicity
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 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 562204	NM_025152.3(NUBPL):c.349A>G (p.Met117Val)	NUBPL (M117V +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 915894	NM_025152.3(NUBPL):c.351G>A (p.Met117Ile)	NUBPL (M117I +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 21	GPathogenic
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 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 1361043	NM_025152.3(NUBPL):c.382+3A>G	NUBPL	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	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 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

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