"GeneDx"[submitter] AND "CTR9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1257548	NC_000011.10:g.10750875T>C	CTR9	Single nucleotide variant	not provided	GBenign
Select item 1316924	NC_000011.10:g.10750932T>C	CTR9	Single nucleotide variant	not provided	GLikely benign
Select item 1291992	NC_000011.10:g.10751008A>G	CTR9	Single nucleotide variant	not provided	GBenign
Select item 2662584	NM_014633.5(CTR9):c.13T>C (p.Ser5Pro)	CTR9 (S5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271533	NM_014633.5(CTR9):c.45+45G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274830	NM_014633.5(CTR9):c.46-227C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316972	NM_014633.5(CTR9):c.46-95G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1173020	NM_014633.5(CTR9):c.50T>C (p.Ile17Thr)	CTR9 (I17T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2576938	NM_014633.5(CTR9):c.85G>C (p.Glu29Gln)	CTR9 (E29Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2575015	NM_014633.5(CTR9):c.110A>G (p.Glu37Gly)	CTR9 (E37G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800524	NM_014633.5(CTR9):c.111A>T (p.Glu37Asp)	CTR9 (E37D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317628	NM_014633.5(CTR9):c.144+132G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318004	NM_014633.5(CTR9):c.145-57C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1396585	NM_014633.5(CTR9):c.236A>G (p.Glu79Gly)	CTR9 (E79G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504520	NM_014633.5(CTR9):c.295A>T (p.Lys99Ter)	CTR9 (K99*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1317786	NM_014633.5(CTR9):c.384+133G>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316958	NM_014633.5(CTR9):c.384+194T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268113	NM_014633.5(CTR9):c.385-194T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290189	NM_014633.5(CTR9):c.385-59T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364174	NM_014633.5(CTR9):c.386A>G (p.Asn129Ser)	CTR9 (N129S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248850	NM_014633.5(CTR9):c.502+68G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316975	NM_014633.5(CTR9):c.502+137C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262657	NM_014633.5(CTR9):c.502+150T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365385	NM_014633.5(CTR9):c.520T>C (p.Phe174Leu)	CTR9 (F174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695489	NM_014633.5(CTR9):c.524A>G (p.Asn175Ser)	CTR9 (N175S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220573	NM_014633.5(CTR9):c.592+116A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236027	NM_014633.5(CTR9):c.592+125T>G	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318273	NM_014633.5(CTR9):c.592+265A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258381	NM_014633.5(CTR9):c.593-325T>G	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2428973	NM_014633.5(CTR9):c.616C>T (p.His206Tyr)	CTR9 (H206Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662912	NM_014633.5(CTR9):c.686C>G (p.Ser229Cys)	CTR9 (S229C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317615	NM_014633.5(CTR9):c.741+170G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270766	NM_014633.5(CTR9):c.741+286dup	CTR9	Duplication (intron variant)	not provided	GBenign
Select item 1317003	NM_014633.5(CTR9):c.741+286del	CTR9	Deletion (intron variant)	not provided	GLikely benign
Select item 1317505	NM_014633.5(CTR9):c.742-273C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2136290	NM_014633.5(CTR9):c.799A>G (p.Ser267Gly)	CTR9 (S267G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1229093	NM_014633.5(CTR9):c.849+284G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317209	NM_014633.5(CTR9):c.850-23T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3368245	NM_014633.5(CTR9):c.1054A>G (p.Ile352Val)	CTR9 (I352V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224155	NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)	CTR9, LOC126861140 (E376K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1878756	NM_014633.5(CTR9):c.1194+1G>T	CTR9, LOC126861140	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1317506	NM_014633.5(CTR9):c.1194+56A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168009	NM_014633.5(CTR9):c.1233T>C (p.Asp411=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1806792	NM_014633.4(CTR9):c.1286del	CTR9, LOC126861140	Deletion	not provided	GUncertain significance
Select item 3372109	NM_014633.5(CTR9):c.1315C>T (p.Arg439Ter)	CTR9, LOC126861140 (R439*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1274118	NM_014633.5(CTR9):c.1413+41_1413+45dup	CTR9, LOC126861140	Duplication (intron variant)	not provided	GBenign
Select item 1810628	NM_014633.5(CTR9):c.1448C>G (p.Ala483Gly)	CTR9, LOC126861140 (A483G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166401	NM_014633.5(CTR9):c.1461C>T (p.His487=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1165251	NM_014633.5(CTR9):c.1494C>T (p.Thr498=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1168010	NM_014633.5(CTR9):c.1557G>A (p.Leu519=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1175567	NM_014633.5(CTR9):c.1597+207G>C	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317208	NM_014633.5(CTR9):c.1597+212T>A	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247240	NM_014633.5(CTR9):c.1598-292G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261492	NM_014633.5(CTR9):c.1686+247A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276948	NM_014633.5(CTR9):c.1686+290T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261605	NM_014633.5(CTR9):c.1687-304T>G	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287599	NM_014633.5(CTR9):c.1687-236A>C	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316647	NM_014633.5(CTR9):c.1687-137del	CTR9	Deletion (intron variant)	not provided	GLikely benign
Select item 1320562	NM_014633.5(CTR9):c.1687-139AAAG[2]	CTR9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1318435	NM_014633.5(CTR9):c.1687-136G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164641	NM_014633.5(CTR9):c.1687-3C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1695493	NM_014633.5(CTR9):c.1760A>C (p.Lys587Thr)	CTR9 (K587T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444555	NM_014633.5(CTR9):c.1907A>G (p.Tyr636Cys)	CTR9 (Y636C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375967	NM_014633.5(CTR9):c.1952A>G (p.Asn651Ser)	CTR9 (N651S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365575	NM_014633.5(CTR9):c.1960+1G>T	CTR9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2499340	NM_014633.5(CTR9):c.2045A>G (p.Asp682Gly)	CTR9 (D682G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442619	NM_014633.5(CTR9):c.2109G>A (p.Met703Ile)	CTR9 (M703I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248296	NM_014633.5(CTR9):c.2110-229A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234240	NM_014633.5(CTR9):c.2227-51G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662528	NM_014633.5(CTR9):c.2291T>C (p.Leu764Ser)	CTR9 (L764S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167221	NM_014633.5(CTR9):c.2313T>C (p.Asp771=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1241574	NM_014633.5(CTR9):c.2372+147A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317759	NM_014633.5(CTR9):c.2373-171G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289200	NM_014633.5(CTR9):c.2445-13T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294136	NM_014633.5(CTR9):c.2580+79C>A	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804226	NM_014633.5(CTR9):c.2632C>T (p.Arg878Trp)	CTR9 (R854W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261937	NM_014633.5(CTR9):c.2727+305C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277677	NM_014633.5(CTR9):c.2728-169C>A	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275274	NM_014633.5(CTR9):c.2728-109dup	CTR9	Duplication (intron variant)	not provided	GBenign
Select item 1804630	NM_014633.5(CTR9):c.2728-109del	CTR9	Deletion (intron variant)	not provided	GLikely benign
Select item 1316648	NM_014633.5(CTR9):c.2728-97C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3368525	NM_014633.5(CTR9):c.2777A>T (p.Asp926Val)	CTR9 (D902V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804443	NM_014633.5(CTR9):c.2794T>C (p.Ser932Pro)	CTR9 (S908P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572894	NM_014633.5(CTR9):c.2819G>A (p.Gly940Asp)	CTR9 (G916D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370991	NM_014633.5(CTR9):c.2828G>A (p.Ser943Asn)	CTR9 (S919N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578038	NM_014633.5(CTR9):c.2851G>A (p.Glu951Lys)	CTR9 (E927K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229380	NM_014633.5(CTR9):c.2885+87G>T	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707153	NM_014633.5(CTR9):c.2885+125C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317164	NM_014633.5(CTR9):c.2886-215T>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318230	NM_014633.5(CTR9):c.2886-139C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317987	NM_014633.5(CTR9):c.2886-87A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3253001	NM_014633.5(CTR9):c.2899G>A (p.Glu967Lys)	CTR9 (E943K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371533	NM_014633.5(CTR9):c.2927A>C (p.Glu976Ala)	CTR9 (E952A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366113	NM_014633.5(CTR9):c.2931T>G (p.Asn977Lys)	CTR9 (N953K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052928	NM_014633.5(CTR9):c.2954G>A (p.Arg985His)	CTR9 (R961H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364880	NM_014633.5(CTR9):c.3032A>G (p.Lys1011Arg)	CTR9 (K1011R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281079	NM_014633.5(CTR9):c.3095+104_3095+109del	CTR9	Microsatellite (intron variant)	not provided	GBenign
Select item 1318304	NM_014633.5(CTR9):c.3095+232C>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169928	NM_014633.5(CTR9):c.3149A>G (p.Lys1050Arg)	CTR9 (K1026R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1091039	NM_014633.5(CTR9):c.3211G>A (p.Gly1071Ser)	CTR9 (G1047S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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