CTR9[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 587

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
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 1129069	NM_014633.5(CTR9):c.6G>T (p.Ser2=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2896288	NM_014633.5(CTR9):c.18C>T (p.Ile6=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180196	NM_014633.5(CTR9):c.30C>G (p.Leu10=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1173018	NM_014633.5(CTR9):c.43G>A (p.Glu15Lys)	CTR9 (E15K)	Single nucleotide variant (missense variant)	CTR9-related neurodevelopmental disorder	GLikely pathogenic
Select item 3078716	NM_014633.5(CTR9):c.44A>G (p.Glu15Gly)	CTR9 (E15G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2170361	NM_014633.5(CTR9):c.45G>A (p.Glu15=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1447960	NM_014633.5(CTR9):c.45+5G>T	CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1517502	NM_014633.5(CTR9):c.45+6T>G	CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 934594	NM_014633.5(CTR9):c.45+6T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2884088	NM_014633.5(CTR9):c.45+9C>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541507	NM_014633.5(CTR9):c.45+12G>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1598860	NM_014633.5(CTR9):c.46-10del	CTR9	Deletion (intron variant)	not provided	GBenign
Select item 1111954	NM_014633.5(CTR9):c.46-3dup	CTR9	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 1173020	NM_014633.5(CTR9):c.50T>C (p.Ile17Thr)	CTR9 (I17T)	Single nucleotide variant (missense variant)	CTR9-related neurodevelopmental disorder	GUncertain significance
Select item 3078720	NM_014633.5(CTR9):c.56T>A (p.Leu19His)	CTR9 (L19H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2974634	NM_014633.5(CTR9):c.74C>T (p.Pro25Leu)	CTR9 (P25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1173026	NM_014633.5(CTR9):c.74C>G (p.Pro25Arg)	CTR9 (P25R)	Single nucleotide variant (missense variant)	CTR9-related neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1137004	NM_014633.5(CTR9):c.75G>A (p.Pro25=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1173023	NM_014633.5(CTR9):c.76G>C (p.Glu26Gln)	CTR9 (E26Q)	Single nucleotide variant (missense variant)	CTR9-related neurodevelopmental disorder	GLikely pathogenic
Select item 2478402	NM_014633.5(CTR9):c.83A>G (p.Asp28Gly)	CTR9 (D28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1583497	NM_014633.5(CTR9):c.84T>C (p.Asp28=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1707508	NM_014633.5(CTR9):c.85G>A (p.Glu29Lys)	CTR9 (E29K)	Single nucleotide variant (missense variant)	Limb undergrowth +7 more	GUncertain significance
Select item 1173019	NM_014633.5(CTR9):c.109G>C (p.Glu37Gln)	CTR9 (E37Q)	Single nucleotide variant (missense variant)	CTR9-related neurodevelopmental disorder	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 1524435	NM_014633.5(CTR9):c.124C>T (p.His42Tyr)	CTR9 (H42Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172616	NM_014633.5(CTR9):c.144G>T (p.Ala48=)	CTR9	Single nucleotide variant (synonymous variant)	CTR9-related condition +1 more	GUncertain significance
Select item 2897642	NM_014633.5(CTR9):c.144+4A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1507678	NM_014633.5(CTR9):c.144+4A>T	CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2426948	NM_014633.5(CTR9):c.144+16G>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1547050	NM_014633.5(CTR9):c.165A>G (p.Gly55=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158683	NM_014633.5(CTR9):c.171A>G (p.Thr57=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836196	NM_014633.5(CTR9):c.190T>G (p.Leu64Val)	CTR9 (L64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178098	NM_014633.5(CTR9):c.190T>C (p.Leu64=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695455	NM_014633.5(CTR9):c.234T>C (p.His78=)	CTR9	Single nucleotide variant (synonymous 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 1164876	NM_014633.5(CTR9):c.240A>G (p.Lys80=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2889641	NM_014633.5(CTR9):c.251C>T (p.Thr84Ile)	CTR9 (T84I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1173022	NM_014633.5(CTR9):c.254G>A (p.Cys85Tyr)	CTR9 (C85Y)	Single nucleotide variant (missense variant)	CTR9-related neurodevelopmental disorder	GLikely pathogenic
Select item 2858647	NM_014633.5(CTR9):c.264A>G (p.Thr88=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169700	NM_014633.5(CTR9):c.273G>A (p.Ala91=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2888728	NM_014633.5(CTR9):c.279T>C (p.Tyr93=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078714	NM_014633.5(CTR9):c.280G>A (p.Val94Ile)	CTR9 (V94I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2905915	NM_014633.5(CTR9):c.285A>T (p.Gln95His)	CTR9 (Q95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699963	NM_014633.5(CTR9):c.286C>A (p.Gln96Lys)	CTR9 (Q96K)	Single nucleotide variant (missense variant)	not provided	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 2852525	NM_014633.5(CTR9):c.298G>A (p.Glu100Lys)	CTR9 (E100K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494366	NM_014633.5(CTR9):c.313A>G (p.Asn105Asp)	CTR9 (N105D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795079	NM_014633.5(CTR9):c.339C>T (p.Ala113=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959725	NM_014633.5(CTR9):c.342C>T (p.Thr114=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560920	NM_014633.5(CTR9):c.348G>A (p.Leu116=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346870	NM_014633.5(CTR9):c.355A>G (p.Met119Val)	CTR9 (M119V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547274	NM_014633.5(CTR9):c.360C>T (p.Ala120=)	CTR9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 973070	NM_014633.5(CTR9):c.373A>G (p.Met125Val)	CTR9 (M125V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2097105	NM_014633.5(CTR9):c.384+9A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902285	NM_014633.5(CTR9):c.384+19T>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1609045	NM_014633.5(CTR9):c.385-13C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2175820	NM_014633.5(CTR9):c.385-9A>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883835	NM_014633.5(CTR9):c.385-7T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1583158	NM_014633.5(CTR9):c.417A>G (p.Leu139=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 972347	NM_014633.5(CTR9):c.470A>G (p.Asn157Ser)	CTR9 (N157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194757	NM_014633.5(CTR9):c.480A>G (p.Pro160=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1053485	NM_014633.5(CTR9):c.484A>G (p.Asn162Asp)	CTR9 (N162D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3078717	NM_014633.5(CTR9):c.491C>T (p.Pro164Leu)	CTR9 (P164L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078718	NM_014633.5(CTR9):c.494C>G (p.Ala165Gly)	CTR9 (A165G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078719	NM_014633.5(CTR9):c.496C>T (p.Leu166Phe)	CTR9 (L166F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1009136	NM_014633.5(CTR9):c.500T>G (p.Leu167Arg)	CTR9 (L167R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658660	NM_014633.5(CTR9):c.502+7G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1122788	NM_014633.5(CTR9):c.502+10C>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1619795	NM_014633.5(CTR9):c.503-15T>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899380	NM_014633.5(CTR9):c.503-8C>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904724	NM_014633.5(CTR9):c.503-6T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816151	NM_014633.5(CTR9):c.521T>A (p.Phe174Tyr)	CTR9 (F174Y)	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 2303442	NM_014633.5(CTR9):c.544G>A (p.Ala182Thr)	CTR9 (A182T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2843258	NM_014633.5(CTR9):c.547C>G (p.Leu183Val)	CTR9 (L183V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795313	NM_014633.5(CTR9):c.554A>T (p.Tyr185Phe)	CTR9 (Y185F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1108356	NM_014633.5(CTR9):c.568T>C (p.Leu190=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439723	NM_014633.5(CTR9):c.572G>A (p.Arg191His)	CTR9 (R191H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170136	NM_014633.5(CTR9):c.585A>G (p.Gly195=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2722507	NM_014633.5(CTR9):c.592+2T>C	CTR9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

<< First< Prev

Page of 6