7685[HGNC] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 1499185	NM_002488.5(NDUFA2):c.294dup (p.Ala99fs)	NDUFA2, TMCO6 (A99fs)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3187070	NM_002488.5(NDUFA2):c.289G>A (p.Gly97Ser)	NDUFA2, TMCO6 (G97S)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 214710	NM_002488.5(NDUFA2):c.280G>A (p.Val94Ile)	NDUFA2, TMCO6 (V94I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1660802	NM_002488.5(NDUFA2):c.279C>T (p.Asn93=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2008932	NM_002488.5(NDUFA2):c.273G>A (p.Leu91=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3056578	NM_002488.5(NDUFA2):c.267A>G (p.Arg89=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	NDUFA2-related disorder	GLikely benign
Select item 2232756	NM_002488.5(NDUFA2):c.253G>A (p.Asp85Asn)	NDUFA2, TMCO6 (D85N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1917840	NM_002488.5(NDUFA2):c.245T>G (p.Phe82Cys)	NDUFA2, TMCO6 (F82C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 138444	NM_002488.5(NDUFA2):c.231C>T (p.Val77=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 2956758	NM_002488.5(NDUFA2):c.225G>A (p.Thr75=)	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 214712	NM_002488.5(NDUFA2):c.225del (p.Asn76fs)	NDUFA2, TMCO6 (N76fs)	Deletion (3 prime UTR variant +2 more)	Cystic Leukoencephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 752905	NM_002488.5(NDUFA2):c.209-4T>C	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2190986	NM_002488.5(NDUFA2):c.209-14CT[4]	NDUFA2, TMCO6	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1910744	NM_002488.5(NDUFA2):c.209-15C>T	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2098824	NM_002488.5(NDUFA2):c.209-19C>T	NDUFA2, TMCO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 509200	NM_002488.5(NDUFA2):c.209-28T>C	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3237476	NM_002488.5(NDUFA2):c.209-39G>A	NDUFA2, TMCO6 (V73M)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GUncertain significance
Select item 682691	NM_002488.5(NDUFA2):c.209-221C>T	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248967	NM_002488.5(NDUFA2):c.209-332del	NDUFA2, TMCO6	Deletion (intron variant)	not provided	GBenign
Select item 1175505	NM_002488.5(NDUFA2):c.209-333_209-332del	NDUFA2, TMCO6	Deletion (intron variant)	not provided	GLikely benign
Select item 1213602	NM_002488.5(NDUFA2):c.209-355G>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204085	NM_002488.5(NDUFA2):c.209-364C>T	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669900	NM_002488.5(NDUFA2):c.208+314T>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291320	NM_002488.5(NDUFA2):c.208+18G>A	NDUFA2, TMCO6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7515	NM_002488.5(NDUFA2):c.208+5G>A	TMCO6, NDUFA2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 13	GPathogenic
Select item 1617149	NM_002488.5(NDUFA2):c.201C>T (p.Ala67=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2434083	NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser)	NDUFA2, TMCO6 (A67S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GUncertain significance
Select item 373817	NM_002488.5(NDUFA2):c.199del (p.Ala67fs)	NDUFA2, TMCO6 (A67fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 351223	NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg)	NDUFA2, TMCO6 (K64R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2087152	NM_002488.5(NDUFA2):c.190A>G (p.Lys64Glu)	NDUFA2, TMCO6 (K64E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2609192	NM_002488.5(NDUFA2):c.179A>C (p.Asp60Ala)	NDUFA2, TMCO6 (D60A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 351224	NM_002488.5(NDUFA2):c.177C>T (p.Ser59=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2150348	NM_002488.5(NDUFA2):c.176C>T (p.Ser59Phe)	NDUFA2, TMCO6 (S59F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 978071	NM_002488.5(NDUFA2):c.170A>C (p.Glu57Ala)	NDUFA2, TMCO6 (E57A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 13	GPathogenic
Select item 718911	NM_002488.5(NDUFA2):c.168C>T (p.Arg56=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947929	NM_002488.5(NDUFA2):c.155C>A (p.Pro52His)	NDUFA2, TMCO6 (P52H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 740814	NM_002488.5(NDUFA2):c.150C>T (p.Asp50=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609191	NM_002488.5(NDUFA2):c.144T>A (p.Asn48Lys)	NDUFA2, TMCO6 (N48K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2682906	NM_002488.5(NDUFA2):c.140C>T (p.Ala47Val)	NDUFA2, TMCO6 (A47V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 351225	NM_002488.5(NDUFA2):c.135G>A (p.Lys45=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214711	NM_002488.5(NDUFA2):c.134A>C (p.Lys45Thr)	NDUFA2, TMCO6 (K45T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cystic Leukoencephalopathy	GPathogenic
Select item 138446	NM_002488.5(NDUFA2):c.129G>A (p.Glu43=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 380652	NM_002488.5(NDUFA2):c.102-11C>G	TMCO6, NDUFA2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2065021	NM_002488.5(NDUFA2):c.102-17TC[2]	NDUFA2, TMCO6	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1965017	NM_002488.5(NDUFA2):c.102-14C>T	NDUFA2, TMCO6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1205285	NM_002488.5(NDUFA2):c.101+27G>A	NDUFA2, TMCO6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2016897	NM_002488.5(NDUFA2):c.101+12C>G	NDUFA2, TMCO6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2082076	NM_002488.5(NDUFA2):c.80C>G (p.Ser27Trp)	NDUFA2, TMCO6 (S27W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937842	NM_002488.5(NDUFA2):c.55A>G (p.Ile19Val)	NDUFA2, TMCO6 (I19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 758228	NM_002488.5(NDUFA2):c.48G>A (p.Leu16=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 138445	NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val)	NDUFA2, TMCO6 (L14V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1032830	NM_002488.5(NDUFA2):c.31G>C (p.Gly11Arg)	NDUFA2, TMCO6 (G11R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 384585	NM_002488.5(NDUFA2):c.30C>T (p.Val10=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1203505	NM_002488.5(NDUFA2):c.28G>A (p.Val10Ile)	NDUFA2, TMCO6 (V10I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1507103	NM_002488.5(NDUFA2):c.26G>C (p.Gly9Ala)	NDUFA2, TMCO6 (G9A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 906252	NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val)	NDUFA2, TMCO6 (G9V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 3187066	NM_002488.5(NDUFA2):c.20G>C (p.Ser7Thr)	NDUFA2, TMCO6 (S7T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2850024	NM_002488.5(NDUFA2):c.9G>T (p.Ala3=)	NDUFA2, TMCO6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 351226	NM_002488.4(NDUFA2):c.-48A>G	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 351227	NM_002488.4(NDUFA2):c.-50G>A	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 351228	NM_002488.4(NDUFA2):c.-51C>A	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 351229	NM_002488.4(NDUFA2):c.-53A>G	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 351230	NM_002488.4(NDUFA2):c.-63G>A	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 675849	NM_002488.4(NDUFA2):c.-106delG	NDUFA2, TMCO6	Deletion (genic downstream transcript variant)	not provided	GLikely benign
Select item 907246	NM_002488.4(NDUFA2):c.-114T>A	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 351231	NM_002488.4(NDUFA2):c.-136A>G	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 351232	NM_002488.4(NDUFA2):c.-145T>A	NDUFA2, TMCO6	Single nucleotide variant (genic downstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1205148	NC_000005.10:g.140647863C>T	IK, MIR3655 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1190646	NC_000005.10:g.140647898A>T	IK, MIR3655 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1278866	NC_000005.10:g.140648008GT[21]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1237583	NC_000005.10:g.140648008GT[20]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1258536	NC_000005.10:g.140648008GT[15]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1194344	NC_000005.10:g.140648008GT[18]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1179860	NC_000005.10:g.140648038_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1196823	NC_000005.10:g.140648040_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1246468	NC_000005.10:g.140648042_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GBenign
Select item 1226911	NC_000005.10:g.140648044_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GBenign
Select item 1218119	NC_000005.10:g.140648046ATGT[1]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1191887	NC_000005.10:g.140648046_140648047del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1276546	NC_000005.10:g.140648046A>G	IK, NDUFA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196588	NC_000005.10:g.140648050A>G	IK, NDUFA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2424471	NC_000005.9:g.(?_139930285)_(140078137_?)del	APBB3, CD14 +9 more	Deletion	not provided	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA8, PCDHA9 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 686048	GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3	ANKHD1, ANKHD1-EIF4EBP3 +15 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 99