ClinVar for Gene (Select 9646) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3368245	NM_014633.5(CTR9):c.1054A>G (p.Ile352Val)	CTR9 (I352V)	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 3365575	NM_014633.5(CTR9):c.1960+1G>T	CTR9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 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 3364174	NM_014633.5(CTR9):c.386A>G (p.Asn129Ser)	CTR9 (N129S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361609	NM_014633.5(CTR9):c.554A>G (p.Tyr185Cys)	CTR9 (Y185C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356058	NM_014633.5(CTR9):c.23T>G (p.Ile8Ser)	CTR9 (I8S)	Single nucleotide variant (missense variant)	CTR9-related disorder	GUncertain significance
Select item 3346209	NM_014633.5(CTR9):c.1880G>T (p.Arg627Leu)	CTR9 (R627L)	Single nucleotide variant (missense variant)	CTR9-related disorder	GUncertain significance
Select item 3342178	NM_014633.5(CTR9):c.2934C>T (p.Gly978=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337979	NM_014633.5(CTR9):c.86A>G (p.Glu29Gly)	CTR9 (E29G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3270165	NM_014633.5(CTR9):c.2588A>G (p.Lys863Arg)	CTR9 (K839R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270164	NM_014633.5(CTR9):c.666C>G (p.Ser222Arg)	CTR9 (S222R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3239319	NM_014633.5(CTR9):c.3159C>G (p.Ala1053=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3078719	NM_014633.5(CTR9):c.496C>T (p.Leu166Phe)	CTR9 (L166F)	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 3078717	NM_014633.5(CTR9):c.491C>T (p.Pro164Leu)	CTR9 (P164L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3078714	NM_014633.5(CTR9):c.280G>A (p.Val94Ile)	CTR9 (V94I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078713	NM_014633.5(CTR9):c.2759T>A (p.Phe920Tyr)	CTR9 (F896Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078712	NM_014633.5(CTR9):c.2692A>C (p.Thr898Pro)	CTR9 (T874P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078711	NM_014633.5(CTR9):c.2549A>C (p.Glu850Ala)	CTR9 (E826A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078710	NM_014633.5(CTR9):c.2204A>G (p.Glu735Gly)	CTR9 (E735G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078709	NM_014633.5(CTR9):c.1154A>G (p.Tyr385Cys)	CTR9, LOC126861140 (Y385C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040741	NM_014633.5(CTR9):c.2109+7_2109+8del	CTR9	Deletion (intron variant)	CTR9-related disorder	GLikely benign
Select item 3019968	NM_014633.5(CTR9):c.1108G>A (p.Ala370Thr)	CTR9, LOC126861140 (A370T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018755	NM_014633.5(CTR9):c.3324G>A (p.Gln1108=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014816	NM_014633.5(CTR9):c.2110-6C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013310	NM_014633.5(CTR9):c.3275G>A (p.Arg1092Lys)	CTR9 (R1068K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013304	NM_014633.5(CTR9):c.762_763inv (p.Val255Ile)	CTR9 (V255I)	Inversion (missense variant)	not provided	GUncertain significance
Select item 3011327	NM_014633.5(CTR9):c.2187G>A (p.Lys729=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007570	NM_014633.5(CTR9):c.2109+17C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007569	NM_014633.5(CTR9):c.2109+14_2109+15insC	CTR9	Insertion (intron variant)	not provided	GLikely benign
Select item 3000384	NM_014633.5(CTR9):c.2952A>G (p.Arg984=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993917	NM_014633.5(CTR9):c.3499C>T (p.His1167Tyr)	CTR9 (H1143Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993056	NM_014633.5(CTR9):c.2226+16G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989293	NM_014633.5(CTR9):c.1285G>A (p.Gly429Ser)	CTR9, LOC126861140 (G429S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2983068	NM_014633.5(CTR9):c.2494C>T (p.Arg832Cys)	CTR9 (R832C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2973923	NM_014633.5(CTR9):c.1728G>A (p.Leu576=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973210	NM_014633.5(CTR9):c.625G>T (p.Val209Leu)	CTR9 (V209L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972118	NM_014633.5(CTR9):c.1828G>A (p.Val610Met)	CTR9 (V610M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963832	NM_014633.5(CTR9):c.849+20A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962939	NM_014633.5(CTR9):c.1059T>C (p.Tyr353=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960938	NM_014633.5(CTR9):c.1227C>T (p.Pro409=)	CTR9, LOC126861140	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 2959124	NM_014633.5(CTR9):c.1686+9T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956143	NM_014633.5(CTR9):c.3385G>C (p.Glu1129Gln)	CTR9 (E1105Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954787	NM_014633.5(CTR9):c.3135G>A (p.Glu1045=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910258	NM_014633.5(CTR9):c.2488C>T (p.Arg830Trp)	CTR9 (R806W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909813	NM_014633.5(CTR9):c.652C>T (p.Arg218Cys)	CTR9 (R218C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908182	NM_014633.5(CTR9):c.2983-6C>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906560	NM_014633.5(CTR9):c.3227C>A (p.Pro1076Gln)	CTR9 (P1052Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906232	NM_014633.5(CTR9):c.2186A>G (p.Lys729Arg)	CTR9 (K729R)	Single nucleotide variant (missense variant)	not provided	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 2905270	NM_014633.5(CTR9):c.3446A>G (p.Asn1149Ser)	CTR9 (N1149S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904724	NM_014633.5(CTR9):c.503-6T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902780	NM_014633.5(CTR9):c.2373-12C>T	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902759	NM_014633.5(CTR9):c.741+15A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902639	NM_014633.5(CTR9):c.1960+19T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902442	NM_014633.5(CTR9):c.2727+15C>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902427	NM_014633.5(CTR9):c.1960+18G>C	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902402	NM_014633.5(CTR9):c.1413+15A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902385	NM_014633.5(CTR9):c.2373-11G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902321	NM_014633.5(CTR9):c.1285-12A>G	CTR9, LOC126861140	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 2902235	NM_014633.5(CTR9):c.2445-12G>A	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901401	NM_014633.5(CTR9):c.2897G>A (p.Gly966Glu)	CTR9 (G942E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900012	NM_014633.5(CTR9):c.1061G>A (p.Arg354Gln)	CTR9 (R354Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899380	NM_014633.5(CTR9):c.503-8C>G	CTR9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897766	NM_014633.5(CTR9):c.1530G>A (p.Met510Ile)	CTR9, LOC126861140 (M510I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897706	NM_014633.5(CTR9):c.2900AAG[1] (p.Glu968del)	CTR9 (E968del +1 more)	Microsatellite (inframe_deletion)	not provided	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 2896288	NM_014633.5(CTR9):c.18C>T (p.Ile6=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895173	NM_014633.5(CTR9):c.3384C>T (p.Ala1128=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894301	NM_014633.5(CTR9):c.2068A>G (p.Ile690Val)	CTR9 (I690V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893452	NM_014633.5(CTR9):c.1854C>T (p.Pro618=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893428	NM_014633.5(CTR9):c.2951G>A (p.Arg984Gln)	CTR9 (R984Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892888	NM_014633.5(CTR9):c.1864C>G (p.Arg622Gly)	CTR9 (R622G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2889282	NM_014633.5(CTR9):c.3380G>A (p.Ser1127Asn)	CTR9 (S1103N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888730	NM_014633.5(CTR9):c.3442G>C (p.Gly1148Arg)	CTR9 (G1124R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2888728	NM_014633.5(CTR9):c.279T>C (p.Tyr93=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888036	NM_014633.5(CTR9):c.1488C>T (p.Ser496=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887762	NM_014633.5(CTR9):c.1875A>G (p.Glu625=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886982	NM_014633.5(CTR9):c.3123T>C (p.Ser1041=)	CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886809	NM_014633.5(CTR9):c.3476A>C (p.Glu1159Ala)	CTR9 (E1159A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2886705	NM_014633.5(CTR9):c.3385G>A (p.Glu1129Lys)	CTR9 (E1129K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886595	NM_014633.5(CTR9):c.2581-3T>C	CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2886577	NM_014633.5(CTR9):c.2690C>G (p.Ala897Gly)	CTR9 (A873G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886259	NM_014633.5(CTR9):c.3139G>C (p.Glu1047Gln)	CTR9 (E1023Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886167	NM_014633.5(CTR9):c.3133G>A (p.Glu1045Lys)	CTR9 (E1021K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885910	NM_014633.5(CTR9):c.2109+4A>G	CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2885884	NM_014633.5(CTR9):c.2425C>G (p.Leu809Val)	CTR9 (L809V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2885541	NM_014633.5(CTR9):c.2515C>T (p.Arg839Trp)	CTR9 (R815W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884927	NM_014633.5(CTR9):c.2489G>A (p.Arg830Gln)	CTR9 (R830Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884888	NM_014633.5(CTR9):c.3403G>A (p.Glu1135Lys)	CTR9 (E1111K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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