ClinVar for Gene (Select 122402) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3175552	NM_153046.3(TDRD9):c.836G>C (p.Arg279Pro)	TDRD9 (R279P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175551	NM_153046.3(TDRD9):c.740A>G (p.Glu247Gly)	TDRD9 (E247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175550	NM_153046.3(TDRD9):c.703C>G (p.Leu235Val)	TDRD9 (L235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175549	NM_153046.3(TDRD9):c.599G>T (p.Ser200Ile)	TDRD9 (S200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175548	NM_153046.3(TDRD9):c.436G>C (p.Glu146Gln)	TDRD9 (E146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175547	NM_153046.3(TDRD9):c.4075G>A (p.Ala1359Thr)	TDRD9 (A1359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175546	NM_153046.3(TDRD9):c.3994C>T (p.Pro1332Ser)	TDRD9 (P1332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175545	NM_153046.3(TDRD9):c.3838G>A (p.Val1280Met)	TDRD9 (V1280M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175544	NM_153046.3(TDRD9):c.3490A>G (p.Thr1164Ala)	TDRD9 (T1164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175543	NM_153046.3(TDRD9):c.3419T>C (p.Leu1140Pro)	TDRD9 (L1140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175542	NM_153046.3(TDRD9):c.3343T>C (p.Ser1115Pro)	TDRD9 (S1115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175541	NM_153046.3(TDRD9):c.2989A>G (p.Ile997Val)	TDRD9 (I997V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175540	NM_153046.3(TDRD9):c.295C>T (p.Arg99Cys)	TDRD9 (R99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175539	NM_153046.3(TDRD9):c.2954A>G (p.Asn985Ser)	TDRD9 (N985S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175538	NM_153046.3(TDRD9):c.2883A>C (p.Gln961His)	TDRD9 (Q961H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175537	NM_153046.3(TDRD9):c.2743G>A (p.Gly915Arg)	TDRD9 (G915R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175536	NM_153046.3(TDRD9):c.2370A>T (p.Lys790Asn)	TDRD9 (K790N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175535	NM_153046.3(TDRD9):c.2320A>G (p.Thr774Ala)	TDRD9 (T774A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175534	NM_153046.3(TDRD9):c.1691G>A (p.Arg564His)	TDRD9 (R564H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175533	NM_153046.3(TDRD9):c.152G>A (p.Gly51Asp)	TDRD9 (G51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175532	NM_153046.3(TDRD9):c.1234A>G (p.Arg412Gly)	TDRD9 (R412G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3059627	NM_153046.3(TDRD9):c.3833T>G (p.Phe1278Cys)	TDRD9 (F1278C)	Single nucleotide variant (missense variant)	TDRD9-related condition	GBenign
Select item 3058205	NM_153046.3(TDRD9):c.2719-5T>G	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related condition	GLikely benign
Select item 3057823	NM_153046.3(TDRD9):c.3975-7A>T	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related condition	GLikely benign
Select item 3056462	NM_153046.3(TDRD9):c.3957C>T (p.Ala1319=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related condition	GLikely benign
Select item 3055448	NM_153046.3(TDRD9):c.*1G>A	TDRD9	Single nucleotide variant (3 prime UTR variant)	TDRD9-related condition	GBenign
Select item 3055404	NM_153046.3(TDRD9):c.3626C>T (p.Thr1209Met)	TDRD9 (T1209M)	Single nucleotide variant (missense variant)	TDRD9-related condition	GLikely benign
Select item 3052446	NM_153046.3(TDRD9):c.2607-5T>C	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related condition	GBenign
Select item 3049822	NM_153046.3(TDRD9):c.1103T>C (p.Met368Thr)	TDRD9 (M368T)	Single nucleotide variant (missense variant)	TDRD9-related condition	GLikely benign
Select item 3049271	NM_153046.3(TDRD9):c.531C>T (p.Ser177=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related condition	GLikely benign
Select item 3045991	NM_153046.3(TDRD9):c.144C>T (p.Pro48=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related condition	GLikely benign
Select item 3044698	NM_153046.3(TDRD9):c.3261G>A (p.Thr1087=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related condition	GLikely benign
Select item 3041885	NM_153046.3(TDRD9):c.624A>T (p.Gly208=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related condition	GLikely benign
Select item 3040471	NM_153046.3(TDRD9):c.907G>C (p.Val303Leu)	TDRD9 (V303L)	Single nucleotide variant (missense variant)	TDRD9-related condition	GBenign
Select item 3039126	NM_153046.3(TDRD9):c.3118C>T (p.Leu1040=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related condition	GLikely benign
Select item 3038382	NM_153046.3(TDRD9):c.3514G>A (p.Val1172Ile)	TDRD9 (V1172I)	Single nucleotide variant (missense variant)	TDRD9-related condition	GLikely benign
Select item 3038035	NM_153046.3(TDRD9):c.642+8T>G	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related condition	GLikely benign
Select item 3035459	NM_153046.3(TDRD9):c.421-3T>C	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related condition	GLikely benign
Select item 3034799	NM_153046.3(TDRD9):c.2223+3G>A	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related condition	GLikely benign
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644595	NM_153046.3(TDRD9):c.4005G>A (p.Lys1335=)	TDRD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644594	NM_153046.3(TDRD9):c.3890T>C (p.Val1297Ala)	TDRD9 (V1297A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644593	NM_153046.3(TDRD9):c.2688A>G (p.Thr896=)	TDRD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620516	NM_153046.3(TDRD9):c.2990T>G (p.Ile997Ser)	TDRD9 (I997S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616835	NM_153046.3(TDRD9):c.3625A>G (p.Thr1209Ala)	TDRD9 (T1209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610037	NM_153046.3(TDRD9):c.2210G>A (p.Arg737Gln)	TDRD9 (R737Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604529	NM_153046.3(TDRD9):c.3841G>A (p.Glu1281Lys)	TDRD9 (E1281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602564	NM_153046.3(TDRD9):c.1537T>G (p.Phe513Val)	TDRD9 (F513V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598449	NM_153046.3(TDRD9):c.4081C>T (p.Arg1361Cys)	TDRD9 (R1361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596826	NM_153046.3(TDRD9):c.194G>A (p.Arg65Gln)	TDRD9 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596230	NM_153046.3(TDRD9):c.3967C>A (p.Leu1323Ile)	TDRD9 (L1323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588398	NM_153046.3(TDRD9):c.3674C>T (p.Pro1225Leu)	TDRD9 (P1225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2559124	NM_153046.3(TDRD9):c.2368A>G (p.Lys790Glu)	TDRD9 (K790E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546326	NM_153046.3(TDRD9):c.206C>T (p.Ala69Val)	TDRD9 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539531	NM_153046.3(TDRD9):c.1620A>T (p.Leu540Phe)	TDRD9 (L540F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535143	NM_153046.3(TDRD9):c.3983G>A (p.Cys1328Tyr)	TDRD9 (C1328Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534879	NM_153046.3(TDRD9):c.4006A>T (p.Ile1336Phe)	TDRD9 (I1336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534419	NM_153046.3(TDRD9):c.3707T>C (p.Ile1236Thr)	TDRD9 (I1236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528133	NM_153046.3(TDRD9):c.4057A>G (p.Lys1353Glu)	TDRD9 (K1353E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523801	NM_153046.3(TDRD9):c.967G>A (p.Glu323Lys)	TDRD9 (E323K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514944	NM_153046.3(TDRD9):c.1201A>C (p.Met401Leu)	TDRD9 (M401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510065	NM_153046.3(TDRD9):c.1654A>G (p.Thr552Ala)	TDRD9 (T552A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496386	NM_153046.3(TDRD9):c.2921A>G (p.Asn974Ser)	TDRD9 (N974S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456953	NM_153046.3(TDRD9):c.2440G>A (p.Val814Met)	TDRD9 (V814M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	ADSS1, AHNAK2 +47 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2410664	NM_153046.3(TDRD9):c.139G>T (p.Ala47Ser)	TDRD9 (A47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400443	NM_153046.3(TDRD9):c.2042G>A (p.Arg681Gln)	TDRD9 (R681Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389308	NM_153046.3(TDRD9):c.1613T>A (p.Val538Glu)	TDRD9 (V538E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387781	NM_153046.3(TDRD9):c.931T>C (p.Tyr311His)	TDRD9 (Y311H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387606	NM_153046.3(TDRD9):c.1921C>T (p.Arg641Trp)	TDRD9 (R641W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383514	NM_153046.3(TDRD9):c.1019C>A (p.Pro340His)	TDRD9 (P340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375139	NM_153046.3(TDRD9):c.2969A>G (p.Asp990Gly)	TDRD9 (D990G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370396	NM_153046.3(TDRD9):c.4082G>A (p.Arg1361His)	TDRD9 (R1361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366663	NM_153046.3(TDRD9):c.1022A>G (p.His341Arg)	TDRD9 (H341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363373	NM_153046.3(TDRD9):c.3370G>A (p.Glu1124Lys)	TDRD9 (E1124K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351590	NM_153046.3(TDRD9):c.2041C>T (p.Arg681Trp)	TDRD9 (R681W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350124	NM_153046.3(TDRD9):c.562C>T (p.Arg188Trp)	TDRD9 (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348472	NM_153046.3(TDRD9):c.3661A>C (p.Ile1221Leu)	TDRD9 (I1221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337265	NM_153046.3(TDRD9):c.1673G>T (p.Gly558Val)	TDRD9 (G558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332314	NM_153046.3(TDRD9):c.820T>G (p.Leu274Val)	TDRD9 (L274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328468	NM_153046.3(TDRD9):c.3058G>A (p.Ala1020Thr)	TDRD9 (A1020T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326950	NM_153046.3(TDRD9):c.2964T>G (p.His988Gln)	TDRD9 (H988Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324556	NM_153046.3(TDRD9):c.1442G>A (p.Arg481Gln)	TDRD9 (R481Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323054	NM_153046.3(TDRD9):c.3412A>G (p.Asn1138Asp)	TDRD9 (N1138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322819	NM_153046.3(TDRD9):c.812G>A (p.Arg271His)	TDRD9 (R271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321017	NM_153046.3(TDRD9):c.1807G>A (p.Val603Ile)	TDRD9 (V603I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317163	NM_153046.3(TDRD9):c.296G>T (p.Arg99Leu)	TDRD9 (R99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300566	NM_153046.3(TDRD9):c.2144C>T (p.Ser715Leu)	TDRD9 (S715L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290768	NM_153046.3(TDRD9):c.2168C>T (p.Ser723Phe)	TDRD9 (S723F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275452	NM_153046.3(TDRD9):c.110C>T (p.Ala37Val)	TDRD9 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273596	NM_153046.3(TDRD9):c.3989C>T (p.Ser1330Leu)	TDRD9 (S1330L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269062	NM_153046.3(TDRD9):c.1511A>G (p.Tyr504Cys)	TDRD9 (Y504C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268387	NM_153046.3(TDRD9):c.836G>A (p.Arg279His)	TDRD9 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267291	NM_153046.3(TDRD9):c.317G>A (p.Gly106Glu)	TDRD9 (G106E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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