ClinVar for Gene (Select 29078) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3360162	NM_014165.4(NDUFAF4):c.145del (p.Glu49fs)	NDUFAF4 (E49fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 3299040	NM_014165.4(NDUFAF4):c.274G>A (p.Glu92Lys)	NDUFAF4 (E92K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
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 2598375	NM_014165.4(NDUFAF4):c.202G>A (p.Val68Met)	NDUFAF4 (V68M)	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 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 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 2184290	NM_014165.4(NDUFAF4):c.62A>T (p.Glu21Val)	LOC129996857, NDUFAF4 (E21V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2088889	NM_014165.4(NDUFAF4):c.286C>A (p.Pro96Thr)	NDUFAF4 (P96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037454	NM_014165.4(NDUFAF4):c.241-9del	NDUFAF4	Deletion (intron variant)	not provided	GBenign
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 1987383	NM_014165.4(NDUFAF4):c.136+20T>C	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1974466	NM_014165.4(NDUFAF4):c.9A>G (p.Ala3=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969958	NM_014165.4(NDUFAF4):c.12A>G (p.Leu4=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968457	NM_014165.4(NDUFAF4):c.419_420delinsGA (p.Gln140Arg)	NDUFAF4 (Q140R)	Indel (missense variant)	not provided	GUncertain significance
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 1945257	NM_014165.4(NDUFAF4):c.27C>A (p.Ile9=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914180	NM_014165.4(NDUFAF4):c.241-14_241-13insC	NDUFAF4	Insertion (intron variant)	not provided	GLikely benign
Select item 1911721	NM_014165.4(NDUFAF4):c.240+17_240+20del	NDUFAF4	Microsatellite (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 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1693025	NM_014165.4(NDUFAF4):c.137-397T>A	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565164	NM_014165.4(NDUFAF4):c.137-10C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527268	GRCh37/hg19 6q16.1(chr6:96930503-97358358)	FHL5, GPR63 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
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 1502102	NM_014165.4(NDUFAF4):c.476T>C (p.Phe159Ser)	NDUFAF4 (F159S)	Single nucleotide variant (missense variant)	not provided	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 1411792	NC_000006.11:g.(?_97338980)_(97339287_?)del	NDUFAF4	Deletion	not provided	GUncertain significance
Select item 1375611	NC_000006.11:g.(?_97338980)_(97345677_?)del	NDUFAF4	Deletion	not provided	GUncertain significance
Select item 1340096	GRCh37/hg19 6q16.1(chr6:97115084-97372081)x1	GPR63, NDUFAF4	Copy number loss	not provided	GUncertain significance
Select item 1291024	NC_000006.12:g.96898025A>G	NDUFAF4	Single nucleotide variant	not provided	GBenign
Select item 1289637	NC_000006.12:g.96897902C>G	NDUFAF4	Single nucleotide variant	not provided	GBenign
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 1219368	NM_014165.4(NDUFAF4):c.-59dup	NDUFAF4	Duplication (5 prime UTR variant)	not provided	GBenign/Likely benign
Select item 1213341	NM_014165.4(NDUFAF4):c.137-37C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205563	NC_000006.12:g.96898116CT[3]	KLHL32, NDUFAF4	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1187322	NC_000006.12:g.96897897dup	NDUFAF4	Duplication	not provided	GLikely benign
Select item 1185953	NM_014165.4(NDUFAF4):c.*137A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 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 1011936	NM_014165.4(NDUFAF4):c.64A>G (p.Ile22Val)	LOC129996857, NDUFAF4 (I22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911911	NM_014165.4(NDUFAF4):c.-11G>T	LOC129996857, NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 908970	NM_014165.4(NDUFAF4):c.-65C>G	NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 908969	NM_014165.4(NDUFAF4):c.-20G>T	NDUFAF4	Single nucleotide variant (5 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 908901	NM_014165.4(NDUFAF4):c.*639A>C	NDUFAF4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 711036	NM_014165.4(NDUFAF4):c.241-8G>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 685481	GRCh37/hg19 6q16.1(chr6:96925561-97358357)x3	FHL5, GPR63 +2 more	Copy number gain	not provided	GUncertain significance
Select item 681254	NM_014165.2(NDUFAF4):c.-312T>C	NDUFAF4, KLHL32	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 681227	NM_014165.4(NDUFAF4):c.136+309C>T	NDUFAF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677882	NM_014165.4(NDUFAF4):c.137-331C>G	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 563208	GRCh37/hg19 6q16.1(chr6:96930503-97358358)x3	UFL1, GPR63 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
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 516860	NM_014165.3(NDUFAF4):c.241-10_241-9dup	NDUFAF4	Duplication (intron variant)	not provided	GBenign
Select item 499267	NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro)	LOC129996857, NDUFAF4 (A3P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 432693	NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val)	NDUFAF4, LOC129996857 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 379085	NM_014165.4(NDUFAF4):c.-25C>T	NDUFAF4	Single nucleotide variant (5 prime UTR variant)	not specified	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 358279	NM_014165.4(NDUFAF4):c.-49C>T	NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358278	NM_014165.4(NDUFAF4):c.-40C>T	NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358277	NM_014165.4(NDUFAF4):c.-33G>T	NDUFAF4	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 358276	NM_014165.4(NDUFAF4):c.-32del	NDUFAF4	Deletion (5 prime UTR variant)	Mitochondrial complex I deficiency	GUncertain significance
Select item 358275	NM_014165.4(NDUFAF4):c.-24C>G	NDUFAF4	Single nucleotide variant (5 prime UTR 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 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 358272	NM_014165.4(NDUFAF4):c.241-18dup	NDUFAF4	Duplication (intron variant)	Mitochondrial complex I deficiency +2 more	GBenign/Likely benign
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 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

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