NFU1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 1230508	NM_001002755.3(NFU1):c.*242T>C	NFU1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 336886	NM_001002755.4(NFU1):c.*103G>A	NFU1	Single nucleotide variant (3 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1905628	NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys)	NFU1 (E245K +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2501092	NM_001002755.4(NFU1):c.721-1G>A	NFU1	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 1580457	NM_001002755.4(NFU1):c.721-8G>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 419856	NM_001002755.4(NFU1):c.721-9dup	NFU1	Duplication (intron variant)	not specified	GLikely benign
Select item 647954	NC_000002.11:g.(?_69627476)_(69627690_?)dup	NFU1	Duplication	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 1410977	NM_001002755.4(NFU1):c.720+4T>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2874737	NM_001002755.4(NFU1):c.708A>G (p.Glu236=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 336887	NM_001002755.4(NFU1):c.702G>A (p.Glu234=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GConflicting classifications of pathogenicity
Select item 1229286	NM_001002755.4(NFU1):c.699G>A (p.Pro233=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GBenign/Likely benign
Select item 1027130	NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu)	NFU1 (P209L +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1938422	NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr)	NFU1 (P209T +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 418385	NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)	NFU1 (N226D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1517241	NM_001002755.4(NFU1):c.636C>G (p.Ser212Arg)	NFU1 (S212R +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336888	NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)	NFU1 (C210F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 30700	NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)	NFU1 (G208C +2 more)	Single nucleotide variant (missense variant +1 more)	NFU1-related condition +2 more	GPathogenic
Select item 3015372	NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys)	NFU1 (Y194C +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1285476	NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	NFU1 (G165R +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 1207048	NM_001002755.4(NFU1):c.548C>G (p.Pro183Arg)	NFU1 (P159R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1968722	NM_001002755.4(NFU1):c.546G>A (p.Arg182=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 3054903	NM_001002755.4(NFU1):c.546-5C>T	NFU1	Single nucleotide variant (intron variant)	NFU1-related condition	GLikely benign
Select item 1445809	NM_001002755.4(NFU1):c.546-16T>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 667539	NM_001002755.4(NFU1):c.546-16T>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 1185837	NM_001002755.4(NFU1):c.546-52A>G	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233202	NM_001002755.4(NFU1):c.546-179dup	NFU1	Duplication (intron variant)	not provided	GBenign
Select item 1193939	NM_001002755.4(NFU1):c.546-226C>T	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191098	NM_001002755.4(NFU1):c.546-230T>C	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671562	NM_001002755.4(NFU1):c.546-249C>T	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210593	NM_001002755.4(NFU1):c.545+297del	NFU1	Deletion (intron variant)	not provided	GLikely benign
Select item 668493	NM_001002755.4(NFU1):c.545+11C>T	NFU1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 539328	NM_001002755.4(NFU1):c.545+9T>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 764460	NM_001002755.4(NFU1):c.545+7G>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 488563	NM_001002755.4(NFU1):c.545+5G>A	NFU1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1509047	NM_001002755.4(NFU1):c.545+4C>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1285477	NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu)	NFU1 (R158L +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1031688	NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	NFU1 (R182Q +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 488564	NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp)	NFU1 (R182W +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GPathogenic
Select item 1188711	NM_001002755.4(NFU1):c.528G>A (p.Leu176=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 2202594	NM_001002755.4(NFU1):c.526T>C (p.Leu176=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2125692	NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del)	NFU1 (D143del +2 more)	Microsatellite (inframe_deletion +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2854814	NM_001002755.4(NFU1):c.499G>A (p.Asp167Asn)	NFU1 (D167N +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1702760	NM_001002755.4(NFU1):c.497A>G (p.Asp166Gly)	NFU1 (D142G +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GUncertain significance
Select item 336889	NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp)	NFU1 (E165D +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 804384	NM_001002755.4(NFU1):c.485-1G>C	NFU1	Single nucleotide variant (splice acceptor variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 1594501	NM_001002755.4(NFU1):c.485-8_485-5del	NFU1	Deletion (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2065252	NM_001002755.4(NFU1):c.485-20T>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 683210	NM_001002755.4(NFU1):c.485-168T>A	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202962	NM_001002755.4(NFU1):c.485-205G>C	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203040	NM_001002755.4(NFU1):c.485-274C>G	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207110	NM_001002755.4(NFU1):c.485-296T>C	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673226	NM_001002755.4(NFU1):c.484+191C>T	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673225	NM_001002755.4(NFU1):c.484+181C>A	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245639	NM_001002755.4(NFU1):c.484+126C>T	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2904913	NM_001002755.4(NFU1):c.484+7T>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1986898	NM_001002755.4(NFU1):c.430T>G (p.Phe144Val)	NFU1 (F3V +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 380985	NM_001002755.4(NFU1):c.420A>T (p.Thr140=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GBenign/Likely benign
Select item 138515	NM_001002755.4(NFU1):c.411T>C (p.Ile137=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1 +2 more	GBenign
Select item 1214780	NM_001002755.4(NFU1):c.398T>C (p.Leu133Pro)	NFU1 (L109P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1053699	NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp)	NFU1 (N101D +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1413449	NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly)	NFU1 (E100G +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1667160	NM_001002755.4(NFU1):c.370-4A>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1659250	NM_001002755.4(NFU1):c.370-4A>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2141241	NM_001002755.4(NFU1):c.370-7T>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2733210	NM_001002755.4(NFU1):c.370-8G>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1239532	NM_001002755.4(NFU1):c.370-94dup	NFU1	Duplication (intron variant)	not provided	GBenign
Select item 1211721	NM_001002755.4(NFU1):c.370-94_370-93dup	NFU1	Duplication (intron variant)	not provided	GLikely benign
Select item 1180255	NM_001002755.4(NFU1):c.370-141A>G	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683209	NM_001002755.4(NFU1):c.370-184C>T	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683208	NM_001002755.4(NFU1):c.369+166C>T	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293241	NM_001002755.4(NFU1):c.369+129C>T	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1444505	NM_001002755.4(NFU1):c.369+4A>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1911725	NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn)	NFU1 (T120N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 896543	NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile)	NFU1 (S87I +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2168551	NM_001002755.4(NFU1):c.324A>C (p.Gly108=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 3020305	NM_001002755.4(NFU1):c.313A>C (p.Arg105=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 3047119	NM_001002755.4(NFU1):c.312T>C (p.Phe104=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	NFU1-related condition	GLikely benign
Select item 2319087	NM_001002755.4(NFU1):c.309A>C (p.Leu103Phe)	NFU1 (L103F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 214869	NM_001002755.4(NFU1):c.303-2A>T	NFU1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2135260	NM_001002755.4(NFU1):c.303-4G>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 718988	NM_001002755.4(NFU1):c.303-4G>T	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 336890	NM_001002755.4(NFU1):c.303-13dup	NFU1	Duplication (intron variant)	Fatal multiple mitochondrial dysfunctions syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2151324	NM_001002755.4(NFU1):c.303-18T>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2090343	NM_001002755.4(NFU1):c.303-19A>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 511601	NM_001002755.4(NFU1):c.303-19A>G	NFU1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 669524	NM_001002755.4(NFU1):c.303-214G>A	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671487	NM_001002755.4(NFU1):c.303-277T>G	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267446	NM_001002755.4(NFU1):c.302+293AC[17]	NFU1	Microsatellite (intron variant)	not provided	GBenign
Select item 1247056	NM_001002755.4(NFU1):c.302+293AC[14]	NFU1	Microsatellite (intron variant)	not provided	GBenign
Select item 1245496	NM_001002755.4(NFU1):c.302+293AC[15]	NFU1	Microsatellite (intron variant)	not provided	GBenign
Select item 1197379	NM_001002755.4(NFU1):c.302+308C>T	NFU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673395	NM_001002755.4(NFU1):c.302+269A>T	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669523	NM_001002755.4(NFU1):c.302+187G>A	NFU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232796	NM_001002755.4(NFU1):c.302+150dup	NFU1	Duplication (intron variant)	not provided	GBenign
Select item 2168043	NM_001002755.4(NFU1):c.302+15dup	NFU1	Duplication (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GBenign
Select item 1712751	NM_001002755.4(NFU1):c.302+3A>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1303303	NM_001002755.4(NFU1):c.301A>G (p.Arg101Gly)	NFU1 (R101G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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