"Illumina Laboratory Services, Illumina"[submitter] AND "NUBPL"[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	NUBPL-related condition +2 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 881212	NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg)	NUBPL (G2R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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 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 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 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 +3 more	GConflicting classifications of pathogenicity
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 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 214871	NM_025152.3(NUBPL):c.162C>T (p.Ser54=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
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 214873	NM_025152.3(NUBPL):c.256+14T>C	NUBPL	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 313022	NM_025152.3(NUBPL):c.285C>T (p.Asn95=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided +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 313024	NM_025152.3(NUBPL):c.369G>A (p.Pro123=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 313026	NM_025152.3(NUBPL):c.384C>T (p.Ser128=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	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)	See cases +3 more	GUncertain significance
Select item 387762	NM_025152.3(NUBPL):c.422+8T>C	NUBPL	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214879	NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu)	NUBPL (S163L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
Select item 313027	NM_025152.3(NUBPL):c.573G>A (p.Val191=)	NUBPL	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
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 +4 more	GConflicting classifications of pathogenicity
Select item 313028	NM_025152.3(NUBPL):c.603A>C (p.Ile201=)	NUBPL	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313029	NM_025152.3(NUBPL):c.639C>T (p.Ile213=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313030	NM_025152.3(NUBPL):c.677G>A (p.Arg226His)	NUBPL (R226H +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	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 883615	NM_025152.3(NUBPL):c.777A>G (p.Ala259=)	NUBPL	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313031	NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu)	NUBPL (D298E +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	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 881257	NM_025152.3(NUBPL):c.*72T>C	NUBPL	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
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 313033	NM_025152.3(NUBPL):c.*135T>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313034	NM_025152.3(NUBPL):c.*188T>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 881258	NM_025152.3(NUBPL):c.*237G>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313035	NM_025152.3(NUBPL):c.*273C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 881259	NM_025152.3(NUBPL):c.*301G>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313036	NM_025152.3(NUBPL):c.*312G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 881718	NM_025152.3(NUBPL):c.*323G>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 881719	NM_025152.3(NUBPL):c.*344T>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313037	NM_025152.3(NUBPL):c.*355T>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313038	NM_025152.3(NUBPL):c.*357C>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313039	NM_025152.3(NUBPL):c.*444C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 313040	NM_025152.3(NUBPL):c.*527G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313041	NM_025152.3(NUBPL):c.*537dup	NUBPL	Duplication (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GLikely benign
Select item 313042	NM_025152.3(NUBPL):c.*561G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313043	NM_025152.3(NUBPL):c.*638C>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 882868	NM_025152.3(NUBPL):c.*736C>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 882869	NM_025152.3(NUBPL):c.*742C>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 882870	NM_025152.3(NUBPL):c.*806A>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 882871	NM_025152.3(NUBPL):c.*817T>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313044	NM_025152.3(NUBPL):c.*836C>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 882872	NM_025152.3(NUBPL):c.*850C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 882873	NM_025152.3(NUBPL):c.*864C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313045	NM_025152.3(NUBPL):c.*905A>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313046	NM_025152.3(NUBPL):c.*995T>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 313047	NM_025152.3(NUBPL):c.*1015C>A	NUBPL	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 883661	NM_025152.3(NUBPL):c.*1047C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313048	NM_025152.3(NUBPL):c.*1048G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313049	NM_025152.3(NUBPL):c.*1053G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313050	NM_025152.3(NUBPL):c.1119_1120insA	NUBPL	Insertion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313051	NM_025152.3(NUBPL):c.*1121dup	NUBPL	Duplication (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313053	NM_025152.3(NUBPL):c.*1122dup	NUBPL	Duplication (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313052	NM_025152.3(NUBPL):c.1121_1123del	NUBPL	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313055	NM_025152.3(NUBPL):c.*1147dup	NUBPL	Duplication (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313054	NM_025152.3(NUBPL):c.1122_1124del	NUBPL	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313056	NM_025152.3(NUBPL):c.1144_1147del	NUBPL	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313057	NM_025152.3(NUBPL):c.1145_1148del	NUBPL	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313058	NM_025152.3(NUBPL):c.1146_1148del	NUBPL	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313059	NM_025152.3(NUBPL):c.*1148del	NUBPL	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313060	NM_025152.3(NUBPL):c.1149_1150insA	NUBPL	Insertion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313061	NM_025152.3(NUBPL):c.*1155dup	NUBPL	Duplication (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency	GUncertain significance
Select item 313062	NM_025152.3(NUBPL):c.*1151G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313063	NM_025152.3(NUBPL):c.*1260T>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 883662	NM_025152.3(NUBPL):c.*1370C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313064	NM_025152.3(NUBPL):c.*1451C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely benign
Select item 881319	NM_025152.3(NUBPL):c.*1554A>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 881320	NM_025152.3(NUBPL):c.*1594T>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313065	NM_025152.3(NUBPL):c.*1609G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313066	NM_025152.3(NUBPL):c.*1619C>T	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 881321	NM_025152.3(NUBPL):c.*1621C>T	NUBPL	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 881322	NM_025152.3(NUBPL):c.*1655A>G	NUBPL	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313067	NM_025152.3(NUBPL):c.*1685A>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 313068	NM_025152.3(NUBPL):c.*1694G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 881766	NM_025152.3(NUBPL):c.*1768G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313069	NM_025152.3(NUBPL):c.*1773A>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313070	NM_025152.3(NUBPL):c.*1776G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313071	NM_025152.3(NUBPL):c.*1840A>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313072	NM_025152.3(NUBPL):c.*1874A>G	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 313073	NM_025152.3(NUBPL):c.*1888G>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 881767	NM_025152.3(NUBPL):c.*1940A>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 882915	NM_025152.3(NUBPL):c.*1963C>A	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 313074	NM_025152.3(NUBPL):c.*2036A>C	NUBPL	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance

ClinVar

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Items: 97