29078[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 358242	NM_014165.4(NDUFAF4):c.*1748T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 909701	NM_014165.4(NDUFAF4):c.*1728G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358243	NM_014165.4(NDUFAF4):c.*1727T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358244	NM_014165.4(NDUFAF4):c.*1671T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358245	NM_014165.4(NDUFAF4):c.*1642T>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358246	NM_014165.4(NDUFAF4):c.*1487A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358247	NM_014165.4(NDUFAF4):c.*1481T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358248	NM_014165.4(NDUFAF4):c.*1447T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 358249	NM_014165.4(NDUFAF4):c.*1443G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 358250	NM_014165.4(NDUFAF4):c.*1375G>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 910625	NM_014165.4(NDUFAF4):c.*1368A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358251	NM_014165.4(NDUFAF4):c.*1363G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358252	NM_014165.4(NDUFAF4):c.*1362C>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 910626	NM_014165.4(NDUFAF4):c.*1334G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 910627	NM_014165.4(NDUFAF4):c.*1299G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GLikely benign
Select item 910628	NM_014165.4(NDUFAF4):c.*1247A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 911846	NM_014165.4(NDUFAF4):c.*1214G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GLikely benign
Select item 911847	NM_014165.4(NDUFAF4):c.*1213C>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358253	NM_014165.4(NDUFAF4):c.*1203A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358254	NM_014165.4(NDUFAF4):c.*1154A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358255	NM_014165.4(NDUFAF4):c.*1121A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358256	NM_014165.4(NDUFAF4):c.*1062T>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GLikely benign
Select item 358257	NM_014165.4(NDUFAF4):c.*1053A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 358258	NM_014165.4(NDUFAF4):c.*1008T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358259	NM_014165.4(NDUFAF4):c.*986A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 908900	NM_014165.4(NDUFAF4):c.*782T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358260	NM_014165.4(NDUFAF4):c.*690G>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 908901	NM_014165.4(NDUFAF4):c.*639A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 358261	NM_014165.4(NDUFAF4):c.*612A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 908902	NM_014165.4(NDUFAF4):c.*482A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358262	NM_014165.4(NDUFAF4):c.*459A>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358263	NM_014165.4(NDUFAF4):c.*387C>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GLikely benign
Select item 358264	NM_014165.4(NDUFAF4):c.*382T>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 358265	NM_014165.4(NDUFAF4):c.*350A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GLikely benign
Select item 358266	NM_014165.4(NDUFAF4):c.*332A>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 358267	NM_014165.4(NDUFAF4):c.*323A>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GBenign
Select item 909769	NM_014165.4(NDUFAF4):c.*305C>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358268	NM_014165.4(NDUFAF4):c.*301T>A	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 358269	NM_014165.4(NDUFAF4):c.*294T>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 909770	NM_014165.4(NDUFAF4):c.*289C>T	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358270	NM_014165.4(NDUFAF4):c.*289C>G	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1185953	NM_014165.4(NDUFAF4):c.*137A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 910677	NM_014165.4(NDUFAF4):c.*119T>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 910678	NM_014165.4(NDUFAF4):c.*14A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358271	NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr)	NDUFAF4 (F164Y)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1502102	NM_014165.4(NDUFAF4):c.476T>C (p.Phe159Ser)	NDUFAF4 (F159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3299039	NM_014165.4(NDUFAF4):c.452C>T (p.Ser151Phe)	NDUFAF4 (S151F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 129693	NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex 1 deficiency, nuclear type 15 +2 more	GBenign
Select item 1968457	NM_014165.4(NDUFAF4):c.419_420delinsGA (p.Gln140Arg)	NDUFAF4 (Q140R)	Indel (missense variant)	not provided	GUncertain significance
Select item 129692	NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3299041	NM_014165.4(NDUFAF4):c.350T>C (p.Val117Ala)	NDUFAF4 (V117A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549516	NM_014165.4(NDUFAF4):c.350T>G (p.Val117Gly)	NDUFAF4 (V117G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2112430	NM_014165.4(NDUFAF4):c.344C>G (p.Ser115Cys)	NDUFAF4 (S115C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993289	NM_014165.4(NDUFAF4):c.289A>G (p.Lys97Glu)	NDUFAF4 (K97E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618792	NM_014165.4(NDUFAF4):c.287C>T (p.Pro96Leu)	NDUFAF4 (P96L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2088889	NM_014165.4(NDUFAF4):c.286C>A (p.Pro96Thr)	NDUFAF4 (P96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138460	NM_014165.4(NDUFAF4):c.280A>C (p.Arg94=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3299040	NM_014165.4(NDUFAF4):c.274G>A (p.Glu92Lys)	NDUFAF4 (E92K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 516942	NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2186126	NM_014165.4(NDUFAF4):c.269C>T (p.Pro90Leu)	NDUFAF4 (P90L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031803	NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser)	NDUFAF4 (P90S)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 711036	NM_014165.4(NDUFAF4):c.241-8G>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516860	NM_014165.3(NDUFAF4):c.241-10_241-9dup	NDUFAF4	Duplication (intron variant)	not provided	GBenign
Select item 358272	NM_014165.4(NDUFAF4):c.241-18dup	NDUFAF4	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2037454	NM_014165.4(NDUFAF4):c.241-9del	NDUFAF4	Deletion (intron variant)	not provided	GBenign
Select item 1914180	NM_014165.4(NDUFAF4):c.241-14_241-13insC	NDUFAF4	Insertion (intron variant)	not provided	GLikely benign
Select item 1909627	NM_014165.4(NDUFAF4):c.241-18_241-17insA	NDUFAF4	Insertion (intron variant)	not provided	GBenign
Select item 1911721	NM_014165.4(NDUFAF4):c.240+17_240+20del	NDUFAF4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1955431	NM_014165.4(NDUFAF4):c.240G>C (p.Gln80His)	NDUFAF4 (Q80H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214750	NM_014165.4(NDUFAF4):c.238C>A (p.Gln80Lys)	NDUFAF4 (Q80K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 358273	NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala)	NDUFAF4 (P75A)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2598375	NM_014165.4(NDUFAF4):c.202G>A (p.Val68Met)	NDUFAF4 (V68M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254154	NM_014165.4(NDUFAF4):c.197A>G (p.Lys66Arg)	NDUFAF4 (K66R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 790	NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro)	NDUFAF4 (L65P)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency	GPathogenic
Select item 911909	NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358274	NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=)	NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1565164	NM_014165.4(NDUFAF4):c.137-10C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213341	NM_014165.4(NDUFAF4):c.137-37C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677882	NM_014165.4(NDUFAF4):c.137-331C>G	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693025	NM_014165.4(NDUFAF4):c.137-397T>A	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681227	NM_014165.4(NDUFAF4):c.136+309C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675543	NM_014165.4(NDUFAF4):c.136+149C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987383	NM_014165.4(NDUFAF4):c.136+20T>C	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138461	NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138459	NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=)	NDUFAF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1508922	NM_014165.4(NDUFAF4):c.88G>T (p.Ala30Ser)	LOC129996857, NDUFAF4 (A30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029250	NM_014165.4(NDUFAF4):c.83C>G (p.Ser28Cys)	LOC129996857, NDUFAF4 (S28C)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 15	GUncertain significance
Select item 2291071	NM_014165.4(NDUFAF4):c.74T>C (p.Met25Thr)	LOC129996857, NDUFAF4 (M25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214752	NM_014165.4(NDUFAF4):c.70A>G (p.Lys24Glu)	NDUFAF4, LOC129996857 (K24E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011936	NM_014165.4(NDUFAF4):c.64A>G (p.Ile22Val)	LOC129996857, NDUFAF4 (I22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184290	NM_014165.4(NDUFAF4):c.62A>T (p.Glu21Val)	LOC129996857, NDUFAF4 (E21V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 911910	NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1461290	NM_014165.4(NDUFAF4):c.59G>A (p.Arg20Gln)	LOC129996857, NDUFAF4 (R20Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3370076	NM_014165.4(NDUFAF4):c.55G>A (p.Glu19Lys)	NDUFAF4, LOC129996857 (E19K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978068	NM_014165.4(NDUFAF4):c.51A>C (p.Arg17=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376856	NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile)	LOC129996857, NDUFAF4 (L14I)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 15 +1 more	GBenign/Likely benign
Select item 1945257	NM_014165.4(NDUFAF4):c.27C>A (p.Ile9=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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