ClinVar for Gene (Select 4715) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3245610	NC_000008.10:g.(?_124515613)_(126379127_?)del	ANXA13, FAM91A1 +13 more	Deletion	not provided	GPathogenic
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 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 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	ANXA13, AARD +173 more	Copy number gain	not provided	GPathogenic
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 2994042	NM_005005.3(NDUFB9):c.303A>G (p.Glu101=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2908267	NM_005005.3(NDUFB9):c.225G>A (p.Gln75=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849089	NM_005005.3(NDUFB9):c.420G>T (p.Leu140=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844760	NM_005005.3(NDUFB9):c.414G>A (p.Lys138=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2658796	NM_005005.3(NDUFB9):c.432G>A (p.Thr144=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	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 2573535	NM_005005.3(NDUFB9):c.409-1G>C	NDUFB9	Single nucleotide variant (splice acceptor variant)	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 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 2427513	NC_000008.10:g.(?_124515613)_(126379127_?)dup	ANXA13, FAM91A1 +13 more	Duplication	not provided	GUncertain significance
Select item 2425276	NC_000008.10:g.(?_124545411)_(125559374_?)dup	TATDN1, TMEM65 +8 more	Duplication	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 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 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 2115284	NM_005005.3(NDUFB9):c.471C>T (p.Ala157=)	NDUFB9	Single nucleotide variant (synonymous variant)	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 2032776	NM_005005.3(NDUFB9):c.408+12T>C	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018306	NM_005005.3(NDUFB9):c.505T>C (p.Tyr169His)	NDUFB9 (Y158H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010650	NM_005005.3(NDUFB9):c.237A>G (p.Pro79=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1990287	NM_005005.3(NDUFB9):c.408+20C>T	NDUFB9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1985179	NM_005005.3(NDUFB9):c.282C>T (p.Tyr94=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966331	NM_005005.3(NDUFB9):c.102-4T>G	NDUFB9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1963924	NM_005005.3(NDUFB9):c.523C>T (p.Arg175Trp)	NDUFB9 (R119W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1955273	NM_005005.3(NDUFB9):c.408+5G>A	NDUFB9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1930156	NM_005005.3(NDUFB9):c.489G>A (p.Leu163=)	NDUFB9	Single nucleotide variant (synonymous variant)	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 1921342	NM_005005.3(NDUFB9):c.294+10A>G	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1641833	NM_005005.3(NDUFB9):c.462G>A (p.Leu154=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1640538	NM_005005.3(NDUFB9):c.294+15T>C	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 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1525100	NM_005005.3(NDUFB9):c.171G>A (p.Met57Ile)	NDUFB9 (M1I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +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 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 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 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 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 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 1395438	NM_005005.3(NDUFB9):c.311dup (p.Leu104fs)	NDUFB9 (L61fs +3 more)	Duplication (frameshift variant)	not provided	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 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 1355216	NM_005005.3(NDUFB9):c.524G>A (p.Arg175Gln)	NDUFB9 (R175Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1318252	NM_005005.3(NDUFB9):c.295-192C>G	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318217	NC_000008.11:g.124550012T>C	NDUFB9	Single nucleotide 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 1317753	NC_000008.11:g.124550169G>A	NDUFB9	Single nucleotide variant	not provided	GLikely benign
Select item 1317609	NM_005005.3(NDUFB9):c.408+295_408+299del	NDUFB9	Deletion (intron variant)	not provided	GLikely benign
Select item 1316809	NM_005005.3(NDUFB9):c.409-239T>A	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1316329	NM_005005.3(NDUFB9):c.102-75A>T	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 1278403	NM_005005.3(NDUFB9):c.102-241A>C	NDUFB9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269031	NM_005005.3(NDUFB9):c.174G>A (p.Ala58=)	NDUFB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1246049	NM_005005.3(NDUFB9):c.295-255del	NDUFB9	Deletion (intron variant)	not provided	GBenign
Select item 1185599	NM_005005.3(NDUFB9):c.431C>T (p.Thr144Met)	NDUFB9 (T144M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1049847	NM_005005.3(NDUFB9):c.536T>C (p.Met179Thr)	NDUFB9 (M123T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 815164	GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3	TRIB1, FER1L6 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 802439	NC_000008.11:g.124567749C>T	MTSS1, NDUFB9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 802438	NC_000008.11:g.124557903G>A	NDUFB9, MTSS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 755411	NM_005005.3(NDUFB9):c.101+7G>A	NDUFB9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687747	GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1	ADCY8, ANXA13 +43 more	Copy number loss	not provided	GPathogenic
Select item 687742	GRCh37/hg19 8q24.13(chr8:125310755-125983817)x3	MTSS1, NDUFB9 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687465	GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1	ANXA13, ASAP1 +31 more	Copy number loss	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 682751	NM_005005.3(NDUFB9):c.294+265C>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
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

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