4719[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150331	GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4	ADAM23, CMKLR2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 897717	NM_005006.7(NDUFS1):c.*1077A>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333762	NM_005006.7(NDUFS1):c.*966A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 897718	NM_005006.7(NDUFS1):c.*938C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333763	NM_005006.7(NDUFS1):c.*866A>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 898873	NM_005006.7(NDUFS1):c.*864G>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333764	NM_005006.7(NDUFS1):c.*846dup	NDUFS1	Duplication (3 prime UTR variant)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 333765	NM_005006.7(NDUFS1):c.*846del	NDUFS1	Deletion (3 prime UTR variant)	Mitochondrial complex I deficiency +1 more	GLikely benign
Select item 333766	NM_005006.7(NDUFS1):c.*756A>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333767	NM_005006.7(NDUFS1):c.*733A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GBenign
Select item 333768	NM_005006.7(NDUFS1):c.*641A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 895906	NM_005006.7(NDUFS1):c.*574T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 333769	NM_005006.7(NDUFS1):c.*561T>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 333770	NM_005006.7(NDUFS1):c.*504G>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 896189	NM_005006.7(NDUFS1):c.*459A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333771	NM_005006.7(NDUFS1):c.*457T>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign
Select item 333772	NM_005006.7(NDUFS1):c.*438C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 896190	NM_005006.7(NDUFS1):c.*426T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333773	NM_005006.7(NDUFS1):c.*399G>A	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 897792	NM_005006.7(NDUFS1):c.*341A>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333774	NM_005006.7(NDUFS1):c.*336G>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign
Select item 333775	NM_005006.7(NDUFS1):c.*256C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 333776	NM_005006.7(NDUFS1):c.*158T>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GBenign/Likely benign
Select item 333777	NM_005006.7(NDUFS1):c.*151T>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 898933	NM_005006.7(NDUFS1):c.*130A>C	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 333778	NM_005006.7(NDUFS1):c.*93dup	NDUFS1	Duplication (3 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 898934	NM_005006.7(NDUFS1):c.*53T>G	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 333779	NM_005006.7(NDUFS1):c.*27C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +2 more	GUncertain significance
Select item 1937064	NM_005006.7(NDUFS1):c.2179T>C (p.Cys727Arg)	NDUFS1 (C616R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929991	NM_005006.7(NDUFS1):c.2153C>T (p.Ala718Val)	NDUFS1 (A607V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299429	NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile)	NDUFS1 (V603I +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GUncertain significance
Select item 2766504	NM_005006.7(NDUFS1):c.2135A>G (p.Lys712Arg)	NDUFS1 (K655R +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 561063	NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr)	NDUFS1 (C710Y +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 800917	NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile)	NDUFS1 (M721I +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely pathogenic
Select item 214785	NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr)	NDUFS1 (A703T +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2506502	NM_005006.7(NDUFS1):c.2102G>A (p.Ser701Asn)	NDUFS1 (S590N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1478320	NM_005006.7(NDUFS1):c.2098A>G (p.Ile700Val)	NDUFS1 (I700V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030124	NM_005006.7(NDUFS1):c.2093-4T>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998819	NM_005006.7(NDUFS1):c.2093-8T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213664	NM_005006.7(NDUFS1):c.2093-54T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683068	NM_005006.7(NDUFS1):c.2093-170G>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683049	NM_005006.7(NDUFS1):c.2092+279T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242204	NM_005006.7(NDUFS1):c.2092+149A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1030870	NM_005006.7(NDUFS1):c.2092+9T>C	NDUFS1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2120560	NM_005006.7(NDUFS1):c.2092+7A>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1303013	NM_005006.7(NDUFS1):c.2084A>G (p.Tyr695Cys)	NDUFS1 (Y584C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2462447	NM_005006.7(NDUFS1):c.2071A>G (p.Ile691Val)	NDUFS1 (I655V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2133558	NM_005006.7(NDUFS1):c.2058A>G (p.Pro686=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622468	NM_005006.7(NDUFS1):c.2028C>T (p.Asn676=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138481	NM_005006.7(NDUFS1):c.2019+18A>T	NDUFS1	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +2 more	GBenign
Select item 1570492	NM_005006.7(NDUFS1):c.2019+11G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609698	NM_005006.7(NDUFS1):c.2019+10C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 333780	NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)	NDUFS1 (N669S +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 2023042	NM_005006.7(NDUFS1):c.1995C>T (p.Phe665=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011303	NM_005006.7(NDUFS1):c.1995C>A (p.Phe665Leu)	NDUFS1 (F679L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671708	NM_005006.7(NDUFS1):c.1990T>G (p.Tyr664Asp)	NDUFS1 (Y553D +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 894804	NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)	NDUFS1 (D546N +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2017201	NM_005006.7(NDUFS1):c.1968T>C (p.Tyr656=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895765	NM_005006.7(NDUFS1):c.1963C>T (p.Arg655Ter)	NDUFS1 (R655* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1415362	NM_005006.7(NDUFS1):c.1960G>C (p.Val654Leu)	NDUFS1 (V597L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817012	NM_005006.7(NDUFS1):c.1950_1951del (p.Ser650_Pro651insTer)	NDUFS1	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1435045	NM_005006.7(NDUFS1):c.1907A>G (p.Tyr636Cys)	NDUFS1 (Y650C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346324	NM_005006.7(NDUFS1):c.1898C>T (p.Thr633Ile)	NDUFS1 (T522I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965466	NM_005006.7(NDUFS1):c.1885-12G>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671739	NM_005006.7(NDUFS1):c.1885-18G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197145	NM_005006.7(NDUFS1):c.1884+247A>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198675	NM_005006.7(NDUFS1):c.1884+164T>C	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230684	NM_005006.7(NDUFS1):c.1884+150C>T	NDUFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1998784	NM_005006.7(NDUFS1):c.1881T>C (p.Ser627=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 50922	NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn)	NDUFS1 (D619N +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic
Select item 1476812	NM_005006.7(NDUFS1):c.1853A>G (p.Glu618Gly)	NDUFS1 (E561G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2651835	NM_005006.7(NDUFS1):c.1830G>A (p.Val610=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916376	NM_005006.7(NDUFS1):c.1814A>T (p.Gln605Leu)	NDUFS1 (Q494L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324785	NM_005006.7(NDUFS1):c.1810C>T (p.Gln604Ter)	NDUFS1 (Q493* +4 more)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely pathogenic
Select item 214777	NM_005006.7(NDUFS1):c.1800G>C (p.Glu600Asp)	NDUFS1 (E600D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1959566	NM_005006.7(NDUFS1):c.1787A>G (p.Tyr596Cys)	NDUFS1 (Y485C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1633054	NM_005006.7(NDUFS1):c.1785A>G (p.Thr595=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31914	NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala)	NDUFS1 (T595A +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2187128	NM_005006.7(NDUFS1):c.1780G>A (p.Ala594Thr)	NDUFS1 (A558T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1705539	NM_005006.7(NDUFS1):c.1776G>T (p.Lys592Asn)	NDUFS1 (K481N +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 2630234	NM_005006.7(NDUFS1):c.1773_1774dup (p.Lys592fs)	NDUFS1 (K481fs +4 more)	Microsatellite (frameshift variant)	NDUFS1-related disorder	GLikely pathogenic
Select item 1443646	NM_005006.7(NDUFS1):c.1772A>G (p.Glu591Gly)	NDUFS1 (E591G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2371995	NM_005006.7(NDUFS1):c.1759G>C (p.Ala587Pro)	NDUFS1 (A530P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 894805	NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)	NDUFS1 (I526T +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 1978898	NM_005006.7(NDUFS1):c.1743T>C (p.Asp581=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006880	NM_005006.7(NDUFS1):c.1735A>G (p.Ile579Val)	NDUFS1 (I543V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445341	NM_005006.7(NDUFS1):c.1730C>A (p.Ala577Asp)	NDUFS1 (A577D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214784	NM_005006.7(NDUFS1):c.1727G>A (p.Gly576Glu)	NDUFS1 (G576E +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3055370	NM_005006.7(NDUFS1):c.1709-5T>C	NDUFS1	Single nucleotide variant (intron variant)	NDUFS1-related disorder	GLikely benign
Select item 1654040	NM_005006.7(NDUFS1):c.1709-12A>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223874	NM_005006.7(NDUFS1):c.1709-288C>G	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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