ClinVar for Gene (Select 4704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3021467	NM_005002.5(NDUFA9):c.611C>T (p.Ser204Leu)	NDUFA9 (S204L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009888	NM_005002.5(NDUFA9):c.630G>A (p.Glu210=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000747	NM_005002.5(NDUFA9):c.801-13T>C	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987965	NM_005002.5(NDUFA9):c.655+18A>G	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985197	NM_005002.5(NDUFA9):c.552+18C>T	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978632	NM_005002.5(NDUFA9):c.372T>G (p.Asn124Lys)	NDUFA9 (N124K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977392	NM_005002.5(NDUFA9):c.510G>C (p.Leu170=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972154	NM_005002.5(NDUFA9):c.896+12G>C	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959421	NM_005002.5(NDUFA9):c.167C>T (p.Ala56Val)	NDUFA9 (A56V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2956440	NM_005002.5(NDUFA9):c.724-16_724-12del	NDUFA9	Deletion (intron variant)	not provided	GLikely benign
Select item 2913362	NM_005002.5(NDUFA9):c.896G>A (p.Arg299Gln)	NDUFA9 (R299Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906675	NM_005002.5(NDUFA9):c.872T>G (p.Phe291Cys)	NDUFA9 (F291C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833309	NM_005002.5(NDUFA9):c.477T>C (p.Ala159=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828965	NM_005002.5(NDUFA9):c.861G>A (p.Leu287=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810369	NM_005002.5(NDUFA9):c.19T>G (p.Ser7Ala)	NDUFA9 (S7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791088	NM_005002.5(NDUFA9):c.770A>G (p.Asp257Gly)	NDUFA9 (D257G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750226	NM_005002.5(NDUFA9):c.963+5G>C	NDUFA9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2715962	NM_005002.5(NDUFA9):c.365A>C (p.His122Pro)	NDUFA9 (H122P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689550	NM_005002.5(NDUFA9):c.158G>C (p.Gly53Ala)	NDUFA9 (G53A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GUncertain significance
Select item 2689549	NM_005002.5(NDUFA9):c.721T>C (p.Tyr241His)	NDUFA9 (Y241H)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GUncertain significance
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2672229	NM_005002.5(NDUFA9):c.241del (p.Ile81fs)	NDUFA9 (I81fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2629555	NM_005002.5(NDUFA9):c.508C>A (p.Leu170Met)	NDUFA9 (L170M)	Single nucleotide variant (missense variant)	NDUFA9-related condition	GUncertain significance
Select item 2608433	NM_005002.5(NDUFA9):c.169A>G (p.Thr57Ala)	NDUFA9 (T57A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604242	NM_005002.5(NDUFA9):c.961C>T (p.Arg321Trp)	NDUFA9 (R321W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544611	NM_005002.5(NDUFA9):c.1063C>T (p.Arg355Cys)	NDUFA9 (R355C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535565	NM_005002.5(NDUFA9):c.217C>T (p.Leu73Phe)	NDUFA9 (L73F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498541	NM_005002.5(NDUFA9):c.634A>G (p.Arg212Gly)	NDUFA9 (R212G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2484936	NM_005002.5(NDUFA9):c.134A>G (p.Lys45Arg)	NDUFA9 (K45R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481208	NM_005002.5(NDUFA9):c.329C>T (p.Ala110Val)	NDUFA9 (A110V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2426569	NC_000012.11:g.(?_4368352)_(4796274_?)del	AKAP3, C12orf4 +7 more	Deletion	not provided	GUncertain significance
Select item 2426176	NM_005002.5(NDUFA9):c.655+4C>T	NDUFA9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2422593	NC_000012.11:g.(?_4368352)_(5155155_?)dup	AKAP3, C12orf4 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 2413380	NM_005002.5(NDUFA9):c.122T>C (p.Met41Thr)	NDUFA9 (M41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385910	NM_005002.5(NDUFA9):c.505C>G (p.His169Asp)	NDUFA9 (H169D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318293	NM_005002.5(NDUFA9):c.499G>A (p.Val167Ile)	NDUFA9 (V167I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281787	NM_005002.5(NDUFA9):c.1039C>T (p.Leu347Phe)	NDUFA9 (L347F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277046	NM_005002.5(NDUFA9):c.185C>T (p.Thr62Ile)	NDUFA9 (T62I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2268428	NM_005002.5(NDUFA9):c.22C>T (p.Arg8Trp)	NDUFA9 (R8W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234379	NM_005002.5(NDUFA9):c.68T>C (p.Ile23Thr)	NDUFA9 (I23T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234146	NM_005002.5(NDUFA9):c.601G>A (p.Val201Ile)	NDUFA9 (V201I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229490	NM_005002.5(NDUFA9):c.394C>T (p.Arg132Ter)	NDUFA9 (R132*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2210011	NM_005002.5(NDUFA9):c.1018A>G (p.Ile340Val)	NDUFA9 (I340V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2179617	NM_005002.5(NDUFA9):c.143G>A (p.Arg48His)	NDUFA9 (R48H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176372	NM_005002.5(NDUFA9):c.552+5G>A	NDUFA9	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2173170	NM_005002.5(NDUFA9):c.660G>A (p.Met220Ile)	NDUFA9 (M220I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2170320	NM_005002.5(NDUFA9):c.612G>A (p.Ser204=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156869	NM_005002.5(NDUFA9):c.283C>T (p.Arg95Cys)	NDUFA9 (R95C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150399	NM_005002.5(NDUFA9):c.850G>A (p.Ala284Thr)	NDUFA9 (A284T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125800	NM_005002.5(NDUFA9):c.1132T>A (p.Ter378Lys)	NDUFA9	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2123445	NM_005002.5(NDUFA9):c.724-19A>G	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122735	NM_005002.5(NDUFA9):c.694G>C (p.Gly232Arg)	NDUFA9 (G232R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120661	NM_005002.5(NDUFA9):c.94C>A (p.Pro32Thr)	NDUFA9 (P32T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118200	NM_005002.5(NDUFA9):c.411-16del	NDUFA9	Deletion (intron variant)	not provided	GLikely benign
Select item 2108248	NM_005002.5(NDUFA9):c.528C>T (p.Ser176=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092042	NM_005002.5(NDUFA9):c.1071C>G (p.Arg357=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077802	NM_005002.5(NDUFA9):c.1122C>G (p.Thr374=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065170	NM_005002.5(NDUFA9):c.892T>C (p.Tyr298His)	NDUFA9 (Y298H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057983	NM_005002.5(NDUFA9):c.19delinsAC (p.Ser7fs)	NDUFA9 (S7fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2043989	NM_005002.5(NDUFA9):c.289A>G (p.Met97Val)	NDUFA9 (M97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028516	NM_005002.5(NDUFA9):c.963+20G>A	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985065	NM_005002.5(NDUFA9):c.397G>C (p.Asp133His)	NDUFA9 (D133H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969354	NM_005002.5(NDUFA9):c.383A>G (p.Asn128Ser)	NDUFA9 (N128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961514	NM_005002.5(NDUFA9):c.621T>A (p.Phe207Leu)	NDUFA9 (F207L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960415	NM_005002.5(NDUFA9):c.411-16A>T	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960059	NM_005002.5(NDUFA9):c.540T>C (p.Tyr180=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959589	NM_005002.5(NDUFA9):c.963+19A>G	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959389	NM_005002.5(NDUFA9):c.372T>C (p.Asn124=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936699	NM_005002.5(NDUFA9):c.349C>T (p.Arg117Ter)	NDUFA9 (R117*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1934966	NM_005002.5(NDUFA9):c.1069C>T (p.Arg357Cys)	NDUFA9 (R357C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927539	NM_005002.5(NDUFA9):c.962G>A (p.Arg321Gln)	NDUFA9 (R321Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926719	NM_005002.5(NDUFA9):c.226A>G (p.Met76Val)	NDUFA9 (M76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924595	NM_005002.5(NDUFA9):c.587C>T (p.Pro196Leu)	NDUFA9 (P196L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920898	NM_005002.5(NDUFA9):c.989C>G (p.Pro330Arg)	NDUFA9 (P330R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914258	NM_005002.5(NDUFA9):c.87C>T (p.His29=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903486	NM_005002.5(NDUFA9):c.896+20T>C	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898512	NM_005002.5(NDUFA9):c.50-7_50-4del	NDUFA9	Deletion (intron variant)	not provided	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1806302	NM_005002.5(NDUFA9):c.50G>T (p.Arg17Leu)	NDUFA9 (R17L)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26	GUncertain significance
Select item 1714276	NM_005002.5(NDUFA9):c.395G>A (p.Arg132Gln)	NDUFA9 (R132Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712120	NM_005002.5(NDUFA9):c.796G>A (p.Val266Ile)	NDUFA9 (V266I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675278	NM_005002.5(NDUFA9):c.199C>T (p.Arg67Ter)	NDUFA9 (R67*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1666541	NM_005002.5(NDUFA9):c.552+15G>A	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617893	NM_005002.5(NDUFA9):c.319-16C>T	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585511	NM_005002.5(NDUFA9):c.588G>T (p.Pro196=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573967	NM_005002.5(NDUFA9):c.258T>C (p.Cys86=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557728	NM_005002.5(NDUFA9):c.12C>T (p.Ala4=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550499	NM_005002.5(NDUFA9):c.570A>T (p.Val190=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529271	NM_005002.5(NDUFA9):c.642T>C (p.Leu214=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1523987	NM_005002.5(NDUFA9):c.665G>A (p.Arg222Gln)	NDUFA9 (R222Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511275	NM_005002.5(NDUFA9):c.328G>A (p.Ala110Thr)	NDUFA9 (A110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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