"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NDUFA9" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1359199	NM_005002.5(NDUFA9):c.7G>A (p.Ala3Thr)	NDUFA9 (A3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438706	NM_005002.5(NDUFA9):c.8C>T (p.Ala3Val)	NDUFA9 (A3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1557728	NM_005002.5(NDUFA9):c.12C>T (p.Ala4=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138450	NM_005002.5(NDUFA9):c.13G>C (p.Ala5Pro)	NDUFA9 (A5P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2057983	NM_005002.5(NDUFA9):c.19delinsAC (p.Ser7fs)	NDUFA9 (S7fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 214716	NM_005002.5(NDUFA9):c.31C>T (p.Arg11Trp)	NDUFA9 (R11W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1506190	NM_005002.5(NDUFA9):c.49+6T>C	NDUFA9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1898512	NM_005002.5(NDUFA9):c.50-7_50-4del	NDUFA9	Deletion (intron variant)	not provided	GUncertain significance
Select item 214717	NM_005002.5(NDUFA9):c.58A>G (p.Ile20Val)	NDUFA9 (I20V)	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 1430671	NM_005002.5(NDUFA9):c.88G>A (p.Gly30Ser)	NDUFA9 (G30S)	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 2413380	NM_005002.5(NDUFA9):c.122T>C (p.Met41Thr)	NDUFA9 (M41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421085	NM_005002.5(NDUFA9):c.128A>G (p.His43Arg)	NDUFA9 (H43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030866	NM_005002.5(NDUFA9):c.142C>T (p.Arg48Cys)	NDUFA9 (R48C)	Single nucleotide variant (missense variant)	Leigh syndrome +2 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 1418188	NM_005002.5(NDUFA9):c.151G>A (p.Val51Ile)	NDUFA9 (V51I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2959421	NM_005002.5(NDUFA9):c.167C>T (p.Ala56Val)	NDUFA9 (A56V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1434781	NM_005002.5(NDUFA9):c.170C>T (p.Thr57Ile)	NDUFA9 (T57I)	Single nucleotide variant (missense variant)	not provided	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 1675278	NM_005002.5(NDUFA9):c.199C>T (p.Arg67Ter)	NDUFA9 (R67*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1468436	NM_005002.5(NDUFA9):c.205G>A (p.Val69Ile)	NDUFA9 (V69I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201565	NM_005002.5(NDUFA9):c.223C>T (p.Arg75Cys)	NDUFA9 (R75C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214722	NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)	NDUFA9 (R75L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214721	NM_005002.5(NDUFA9):c.224G>A (p.Arg75His)	NDUFA9 (R75H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 214723	NM_005002.5(NDUFA9):c.253C>T (p.Arg85Trp)	NDUFA9 (R85W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1573967	NM_005002.5(NDUFA9):c.258T>C (p.Cys86=)	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 2043989	NM_005002.5(NDUFA9):c.289A>G (p.Met97Val)	NDUFA9 (M97V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1351785	NM_005002.5(NDUFA9):c.302G>A (p.Gly101Asp)	NDUFA9 (G101D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388398	NM_005002.5(NDUFA9):c.318+6G>A	NDUFA9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1617893	NM_005002.5(NDUFA9):c.319-16C>T	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1511275	NM_005002.5(NDUFA9):c.328G>A (p.Ala110Thr)	NDUFA9 (A110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138451	NM_005002.5(NDUFA9):c.330G>T (p.Ala110=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1347863	NM_005002.5(NDUFA9):c.341A>T (p.Asp114Val)	NDUFA9 (D114V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936699	NM_005002.5(NDUFA9):c.349C>T (p.Arg117Ter)	NDUFA9 (R117*)	Single nucleotide variant (nonsense)	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 +1 more	GUncertain significance
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 1959389	NM_005002.5(NDUFA9):c.372T>C (p.Asn124=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1714276	NM_005002.5(NDUFA9):c.395G>A (p.Arg132Gln)	NDUFA9 (R132Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2118200	NM_005002.5(NDUFA9):c.411-16del	NDUFA9	Deletion (intron variant)	not provided	GLikely benign
Select item 1960415	NM_005002.5(NDUFA9):c.411-16A>T	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138447	NM_005002.5(NDUFA9):c.411-9A>T	NDUFA9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2833309	NM_005002.5(NDUFA9):c.477T>C (p.Ala159=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719915	NM_005002.5(NDUFA9):c.498T>C (p.His166=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977392	NM_005002.5(NDUFA9):c.510G>C (p.Leu170=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1448024	NM_005002.5(NDUFA9):c.515C>T (p.Ala172Val)	NDUFA9 (A172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108248	NM_005002.5(NDUFA9):c.528C>T (p.Ser176=)	NDUFA9	Single nucleotide variant (synonymous 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 2176372	NM_005002.5(NDUFA9):c.552+5G>A	NDUFA9	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 138448	NM_005002.5(NDUFA9):c.552+11A>C	NDUFA9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1666541	NM_005002.5(NDUFA9):c.552+15G>A	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 138449	NM_005002.5(NDUFA9):c.553-17G>A	NDUFA9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 512313	NM_005002.5(NDUFA9):c.553-9A>G	NDUFA9	Single nucleotide variant (intron variant)	not provided +1 more	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 1924595	NM_005002.5(NDUFA9):c.587C>T (p.Pro196Leu)	NDUFA9 (P196L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585511	NM_005002.5(NDUFA9):c.588G>T (p.Pro196=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 378241	NM_005002.5(NDUFA9):c.588G>A (p.Pro196=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483060	NM_005002.5(NDUFA9):c.601G>T (p.Val201Leu)	NDUFA9 (V201L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2170320	NM_005002.5(NDUFA9):c.612G>A (p.Ser204=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3009888	NM_005002.5(NDUFA9):c.630G>A (p.Glu210=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710572	NM_005002.5(NDUFA9):c.639C>T (p.Phe213=)	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 2426176	NM_005002.5(NDUFA9):c.655+4C>T	NDUFA9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 378242	NM_005002.5(NDUFA9):c.655+17A>G	NDUFA9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2987965	NM_005002.5(NDUFA9):c.655+18A>G	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380671	NM_005002.5(NDUFA9):c.656-6C>T	NDUFA9	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 508781	NM_005002.5(NDUFA9):c.656-5G>A	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1523987	NM_005002.5(NDUFA9):c.665G>A (p.Arg222Gln)	NDUFA9 (R222Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360729	NM_005002.5(NDUFA9):c.677T>C (p.Ile226Thr)	NDUFA9 (I226T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 559204	NM_005002.5(NDUFA9):c.722A>G (p.Tyr241Cys)	NDUFA9 (Y241C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2956440	NM_005002.5(NDUFA9):c.724-16_724-12del	NDUFA9	Deletion (intron variant)	not provided	GLikely benign
Select item 2123445	NM_005002.5(NDUFA9):c.724-19A>G	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423575	NM_005002.5(NDUFA9):c.727G>A (p.Val243Ile)	NDUFA9 (V243I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214714	NM_005002.5(NDUFA9):c.728T>C (p.Val243Ala)	NDUFA9 (V243A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 26 +3 more	GConflicting classifications of pathogenicity
Select item 506870	NM_005002.5(NDUFA9):c.735A>G (p.Val245=)	NDUFA9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2791088	NM_005002.5(NDUFA9):c.770A>G (p.Asp257Gly)	NDUFA9 (D257G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 381398	NM_005002.5(NDUFA9):c.795C>T (p.Phe265=)	NDUFA9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 3000747	NM_005002.5(NDUFA9):c.801-13T>C	NDUFA9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739092	NM_005002.5(NDUFA9):c.809G>A (p.Arg270Gln)	NDUFA9 (R270Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1422542	NM_005002.5(NDUFA9):c.823C>T (p.His275Tyr)	NDUFA9 (H275Y)	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 2828965	NM_005002.5(NDUFA9):c.861G>A (p.Leu287=)	NDUFA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906675	NM_005002.5(NDUFA9):c.872T>G (p.Phe291Cys)	NDUFA9 (F291C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 129687	NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu)	NDUFA9 (P294L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1399770	NM_005002.5(NDUFA9):c.893A>G (p.Tyr298Cys)	NDUFA9 (Y298C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2972154	NM_005002.5(NDUFA9):c.896+12G>C	NDUFA9	Single nucleotide variant (intron 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

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