NDUFS7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 672592	NM_024407.4(NDUFS7):c.-376G>C	NDUFS7	Single nucleotide variant	not provided	GBenign
Select item 1205191	NC_000019.10:g.1383562C>T	NDUFS7	Single nucleotide variant	not provided	GLikely benign
Select item 1209258	NC_000019.10:g.1383644A>G	NDUFS7, LOC130062941	Single nucleotide variant	not provided	GLikely benign
Select item 684335	NM_024407.4(NDUFS7):c.-277G>T	LOC130062941, NDUFS7	Single nucleotide variant	not provided	GBenign
Select item 510979	NM_024407.5(NDUFS7):c.-8A>C	NDUFS7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379099	NM_024407.5(NDUFS7):c.-6G>A	NDUFS7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1677972	NM_024407.5(NDUFS7):c.-1G>C	NDUFS7	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 214831	NM_024407.5(NDUFS7):c.2T>C (p.Met1Thr)	NDUFS7 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 891489	NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val)	NDUFS7 (A2V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2871423	NM_024407.5(NDUFS7):c.6G>A (p.Ala2=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802704	NM_024407.5(NDUFS7):c.9G>A (p.Val3=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725699	NM_024407.5(NDUFS7):c.16+1G>C	NDUFS7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1904661	NM_024407.5(NDUFS7):c.16+6C>T	NDUFS7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2899853	NM_024407.5(NDUFS7):c.16+7G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839474	NM_024407.5(NDUFS7):c.16+12A>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961640	NM_024407.5(NDUFS7):c.16+14C>T	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753083	NM_024407.5(NDUFS7):c.16+15G>T	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745819	NM_024407.5(NDUFS7):c.16+15G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974311	NM_024407.5(NDUFS7):c.16+16G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989590	NM_024407.5(NDUFS7):c.16+25_16+40dup	NDUFS7	Duplication (intron variant)	not provided	GLikely benign
Select item 2872884	NM_024407.5(NDUFS7):c.16+25_16+40del	NDUFS7	Deletion (intron variant)	not provided	GLikely benign
Select item 1218579	NM_024407.5(NDUFS7):c.16+80G>C	LOC130062942, NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671566	NM_024407.5(NDUFS7):c.16+305C>T	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 7683	NM_024407.5(NDUFS7):c.17-1167C>G	NDUFS7	Single nucleotide variant (intron variant)	Leigh syndrome	GLikely pathogenic
Select item 1327171	NM_024407.5(NDUFS7):c.17-1124G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254286	NM_024407.5(NDUFS7):c.17-1095C>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2110968	NM_024407.5(NDUFS7):c.17-19C>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798970	NM_024407.5(NDUFS7):c.17-17C>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897191	NM_024407.5(NDUFS7):c.17-17C>T	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907680	NM_024407.5(NDUFS7):c.17-16G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838236	NM_024407.5(NDUFS7):c.17-12T>C	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790263	NM_024407.5(NDUFS7):c.17-10CT[2]	NDUFS7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2786507	NM_024407.5(NDUFS7):c.17-6C>T	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840349	NM_024407.5(NDUFS7):c.17-1G>T	NDUFS7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 328336	NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)	NDUFS7	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2787001	NM_024407.5(NDUFS7):c.24C>T (p.Gly8=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2376753	NM_024407.5(NDUFS7):c.29G>A (p.Arg10His)	NDUFS7 (R10H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2898982	NM_024407.5(NDUFS7):c.30C>T (p.Arg10=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772085	NM_024407.5(NDUFS7):c.30C>G (p.Arg10=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499238	NM_024407.5(NDUFS7):c.31G>A (p.Gly11Ser)	NDUFS7 (G11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957094	NM_024407.5(NDUFS7):c.32G>A (p.Gly11Asp)	NDUFS7 (G11D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998548	NM_024407.5(NDUFS7):c.37C>A (p.Arg13=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193216	NM_024407.5(NDUFS7):c.37C>T (p.Arg13Trp)	NDUFS7 (R13W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491215	NM_024407.5(NDUFS7):c.38G>T (p.Arg13Leu)	NDUFS7 (R13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450224	NM_024407.5(NDUFS7):c.38G>A (p.Arg13Gln)	NDUFS7 (R13Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010068	NM_024407.5(NDUFS7):c.39G>T (p.Arg13=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891739	NM_024407.5(NDUFS7):c.45T>G (p.Leu15=)	NDUFS7	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1050003	NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)	NDUFS7 (G16D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2872017	NM_024407.5(NDUFS7):c.51G>T (p.Leu17=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474505	NM_024407.5(NDUFS7):c.52C>A (p.Arg18Ser)	NDUFS7 (R18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028809	NM_024407.5(NDUFS7):c.52C>T (p.Arg18Cys)	NDUFS7 (R18C)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 2969413	NM_024407.5(NDUFS7):c.53+10T>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780814	NM_024407.5(NDUFS7):c.53+11G>C	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765098	NM_024407.5(NDUFS7):c.53+11G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023718	NM_024407.5(NDUFS7):c.53+14T>C	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877088	NM_024407.5(NDUFS7):c.53+19A>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 378255	NM_024407.5(NDUFS7):c.53+20G>C	NDUFS7	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1296494	NM_024407.5(NDUFS7):c.53+71G>T	NDUFS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220350	NM_024407.5(NDUFS7):c.53+73_53+75del	NDUFS7	Deletion (intron variant)	not provided	GLikely benign
Select item 1203849	NM_024407.5(NDUFS7):c.53+73_53+74del	NDUFS7	Deletion (intron variant)	not provided	GLikely benign
Select item 1237985	NM_024407.5(NDUFS7):c.53+73del	NDUFS7	Deletion (intron variant)	not provided	GBenign
Select item 1178975	NM_024407.5(NDUFS7):c.53+73T>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250950	NM_024407.5(NDUFS7):c.53+80T>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183827	NM_024407.5(NDUFS7):c.53+80del	NDUFS7	Deletion (intron variant)	not provided	GBenign
Select item 1269366	NM_024407.5(NDUFS7):c.53+87A>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683138	NM_024407.5(NDUFS7):c.54-204G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631116	NM_024407.5(NDUFS7):c.54-20C>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383277	NM_024407.5(NDUFS7):c.54-20C>T	NDUFS7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 514399	NM_024407.5(NDUFS7):c.54-19G>A	NDUFS7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 138495	NM_024407.5(NDUFS7):c.54-18C>T	NDUFS7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 682529	NM_024407.5(NDUFS7):c.54-17G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736419	NM_024407.5(NDUFS7):c.54-9T>G	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214827	NM_024407.5(NDUFS7):c.54-6C>T	NDUFS7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 380673	NM_024407.5(NDUFS7):c.54-5G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1982013	NM_024407.5(NDUFS7):c.54-1G>A	NDUFS7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2850961	NM_024407.5(NDUFS7):c.57C>T (p.Ser19=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188411	NM_024407.5(NDUFS7):c.59G>T (p.Ser20Ile)	NDUFS7 (S20I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2959198	NM_024407.5(NDUFS7):c.60C>T (p.Ser20=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948021	NM_024407.5(NDUFS7):c.61G>A (p.Val21Met)	NDUFS7 (V21M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129702	NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)	NDUFS7 (P23L)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GBenign
Select item 1723780	NM_024407.5(NDUFS7):c.73G>C (p.Val25Leu)	NDUFS7 (V25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806581	NM_024407.5(NDUFS7):c.75G>A (p.Val25=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191123	NM_024407.5(NDUFS7):c.86G>T (p.Gly29Val)	NDUFS7 (G29V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1607372	NM_024407.5(NDUFS7):c.90C>T (p.Val30=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2759429	NM_024407.5(NDUFS7):c.94C>T (p.Gln32Ter)	NDUFS7 (Q32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2899937	NM_024407.5(NDUFS7):c.99C>T (p.Ser33=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755493	NM_024407.5(NDUFS7):c.102G>A (p.Val34=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 389047	NM_024407.5(NDUFS7):c.108C>T (p.Thr36=)	NDUFS7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2796628	NM_024407.5(NDUFS7):c.114C>T (p.Gly38=)	NDUFS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902383	NM_024407.5(NDUFS7):c.122+6G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1575223	NM_024407.5(NDUFS7):c.122+9G>A	NDUFS7	Single nucleotide variant (intron variant)	not provided	GLikely benign

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