NDUFB9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 more	Copy number gain	See cases	GPathogenic
Select item 57127	GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3	FER1L6-AS2, LINC00964 +78 more	Copy number gain	See cases	GPathogenic
Select item 58997	GRCh38/hg38 8q24.13(chr8:124377953-124575712)x1	LOC129390046, LOC130001073 +11 more	Copy number loss	See cases	GUncertain significance
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 676049	NM_005005.2(NDUFB9):c.-133C>T	NDUFB9, TATDN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 671738	NM_005005.3(NDUFB9):c.-64A>G	NDUFB9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1318387	NM_005005.3(NDUFB9):c.-51A>G	NDUFB9	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex 1 deficiency, nuclear type 24 +1 more	GLikely benign
Select item 383665	NM_005005.3(NDUFB9):c.-47G>T	NDUFB9	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 138470	NM_005005.3(NDUFB9):c.-43A>G	NDUFB9	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 138471	NM_005005.3(NDUFB9):c.-36C>G	NDUFB9	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 516379	NM_005005.3(NDUFB9):c.-31C>T	NDUFB9	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 508376	NM_005005.3(NDUFB9):c.-26C>T	NDUFB9	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380098	NM_005005.3(NDUFB9):c.-18G>T	NDUFB9	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379528	NM_005005.3(NDUFB9):c.1A>G (p.Met1Val)	NDUFB9 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730167	NM_005005.3(NDUFB9):c.9C>T (p.Phe3=)	NDUFB9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1928975	NM_005005.3(NDUFB9):c.11T>G (p.Leu4Trp)	NDUFB9 (L4W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 214764	NM_005005.3(NDUFB9):c.23C>T (p.Pro8Leu)	NDUFB9 (P8L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 138472	NM_005005.3(NDUFB9):c.24C>T (p.Pro8=)	NDUFB9	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 24 +2 more	GBenign/Likely benign
Select item 1431983	NM_005005.3(NDUFB9):c.26A>G (p.Tyr9Cys)	NDUFB9 (Y9C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2999928	NM_005005.3(NDUFB9):c.29T>G (p.Leu10Arg)	NDUFB9 (L10R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2306459	NM_005005.3(NDUFB9):c.65G>A (p.Arg22Gln)	NDUFB9 (R22Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552188	NM_005005.3(NDUFB9):c.79C>G (p.Leu27Val)	NDUFB9 (L27V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 792380	NM_005005.3(NDUFB9):c.81C>G (p.Leu27=)	NDUFB9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2965079	NM_005005.3(NDUFB9):c.82G>C (p.Glu28Gln)	NDUFB9 (E28Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 713424	NM_005005.3(NDUFB9):c.84G>A (p.Glu28=)	NDUFB9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 755411	NM_005005.3(NDUFB9):c.101+7G>A	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291363	NM_005005.3(NDUFB9):c.101+39C>T	NDUFB9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316727	NM_005005.3(NDUFB9):c.101+240G>C	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316694	NM_005005.3(NDUFB9):c.102-280_102-273del	NDUFB9	Deletion (intron variant)	not provided	GLikely benign
Select item 1278403	NM_005005.3(NDUFB9):c.102-241A>C	NDUFB9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316329	NM_005005.3(NDUFB9):c.102-75A>T	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671560	NM_005005.3(NDUFB9):c.102-46C>T	NDUFB9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1966331	NM_005005.3(NDUFB9):c.102-4T>G	NDUFB9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3188007	NM_005005.3(NDUFB9):c.103G>C (p.Asp35His)	NDUFB9 (D35H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 449709	NM_005005.3(NDUFB9):c.109T>C (p.Tyr37His)	NDUFB9 (Y37H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1493969	NM_005005.3(NDUFB9):c.112C>T (p.Arg38Ter)	NDUFB9 (R38*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1999875	NM_005005.3(NDUFB9):c.136G>A (p.Ala46Thr)	NDUFB9 (A35T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1410353	NM_005005.3(NDUFB9):c.139C>T (p.Arg47Trp)	NDUFB9 (R36W +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 788790	NM_005005.3(NDUFB9):c.140G>T (p.Arg47Leu)	NDUFB9 (R36L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2047099	NM_005005.3(NDUFB9):c.161A>T (p.Glu54Val)	NDUFB9 (E11V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2715484	NM_005005.3(NDUFB9):c.167A>T (p.Asp56Val)	NDUFB9 (D56V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1525100	NM_005005.3(NDUFB9):c.171G>A (p.Met57Ile)	NDUFB9 (M1I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1505549	NM_005005.3(NDUFB9):c.173C>T (p.Ala58Val)	NDUFB9 (A15V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269031	NM_005005.3(NDUFB9):c.174G>A (p.Ala58=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188017	NM_005005.3(NDUFB9):c.186G>C (p.Gln62His)	NDUFB9 (Q62H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 65455	NM_005005.3(NDUFB9):c.191T>C (p.Leu64Pro)	NDUFB9 (L64P +3 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 24	GPathogenic
Select item 2801899	NM_005005.3(NDUFB9):c.193A>G (p.Lys65Glu)	NDUFB9 (K65E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214763	NM_005005.3(NDUFB9):c.201C>T (p.Ala67=)	NDUFB9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1488773	NM_005005.3(NDUFB9):c.215G>T (p.Trp72Leu)	NDUFB9 (W72L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3299063	NM_005005.3(NDUFB9):c.221G>A (p.Arg74His)	NDUFB9 (R63H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2908267	NM_005005.3(NDUFB9):c.225G>A (p.Gln75=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010650	NM_005005.3(NDUFB9):c.237A>G (p.Pro79=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960418	NM_005005.3(NDUFB9):c.256C>T (p.Pro86Ser)	NDUFB9 (P86S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1372230	NM_005005.3(NDUFB9):c.272A>G (p.Tyr91Cys)	NDUFB9 (Y35C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711917	NM_005005.3(NDUFB9):c.280T>A (p.Tyr94Asn)	NDUFB9 (Y51N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985179	NM_005005.3(NDUFB9):c.282C>T (p.Tyr94=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1059270	NM_005005.3(NDUFB9):c.283G>A (p.Asp95Asn)	NDUFB9 (D39N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427000	NM_005005.3(NDUFB9):c.294+5G>T	NDUFB9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1921342	NM_005005.3(NDUFB9):c.294+10A>G	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389622	NM_005005.3(NDUFB9):c.294+13T>C	NDUFB9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1640538	NM_005005.3(NDUFB9):c.294+15T>C	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317854	NM_005005.3(NDUFB9):c.294+223G>A	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682751	NM_005005.3(NDUFB9):c.294+265C>T	NDUFB9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246049	NM_005005.3(NDUFB9):c.295-255del	NDUFB9	Deletion (intron variant)	not provided	GBenign
Select item 1318252	NM_005005.3(NDUFB9):c.295-192C>G	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538348	NM_005005.3(NDUFB9):c.297C>G (p.Val99=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994042	NM_005005.3(NDUFB9):c.303A>G (p.Glu101=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167590	NM_005005.3(NDUFB9):c.307T>G (p.Cys103Gly)	NDUFB9 (C92G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1395438	NM_005005.3(NDUFB9):c.311dup (p.Leu104fs)	NDUFB9 (L61fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1469470	NM_005005.3(NDUFB9):c.340A>G (p.Met114Val)	NDUFB9 (M103V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425448	NM_005005.3(NDUFB9):c.347C>T (p.Pro116Leu)	NDUFB9 (P116L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518188	NM_005005.3(NDUFB9):c.364A>C (p.Arg122=)	NDUFB9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2520878	NM_005005.3(NDUFB9):c.373T>G (p.Trp125Gly)	NDUFB9 (W114G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2986150	NM_005005.3(NDUFB9):c.385C>T (p.Arg129Trp)	NDUFB9 (R129W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369906	NM_005005.3(NDUFB9):c.386G>A (p.Arg129Gln)	NDUFB9 (R86Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131704	NM_005005.3(NDUFB9):c.404G>A (p.Arg135Gln)	NDUFB9 (R135Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955273	NM_005005.3(NDUFB9):c.408+5G>A	NDUFB9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2032776	NM_005005.3(NDUFB9):c.408+12T>C	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990287	NM_005005.3(NDUFB9):c.408+20C>T	NDUFB9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676288	NM_005005.3(NDUFB9):c.408+61C>T	NDUFB9	Single nucleotide variant (intron variant)	not provided	GBenign

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