TDRD9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR494, MIR495 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056617, LOC130056618 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	LOC130056492, LOC130056485 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LINC00605, LINC00677 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	BRF1, ADSS1 +397 more	Copy number loss	See cases	GPathogenic
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 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	MIR4710, MIR5195 +304 more	Copy number gain	See cases	GPathogenic
Select item 155689	GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3	ASPG, ATP5MJ +72 more	Copy number gain	See cases	GUncertain significance
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 1027806	NM_153046.3(TDRD9):c.46A>C (p.Ile16Leu)	TDRD9 (I16L)	Single nucleotide variant (missense variant)	Spermatogenic failure 30	GUncertain significance
Select item 2211126	NM_153046.3(TDRD9):c.49G>T (p.Gly17Cys)	TDRD9 (G17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221731	NM_153046.3(TDRD9):c.98C>T (p.Pro33Leu)	TDRD9 (P33L)	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 2410664	NM_153046.3(TDRD9):c.139G>T (p.Ala47Ser)	TDRD9 (A47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045991	NM_153046.3(TDRD9):c.144C>T (p.Pro48=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related disorder	GLikely benign
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 2596826	NM_153046.3(TDRD9):c.194G>A (p.Arg65Gln)	TDRD9 (R65Q)	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 1049315	NM_153046.3(TDRD9):c.292T>G (p.Cys98Gly)	TDRD9 (C98G)	Single nucleotide variant (missense variant)	not provided	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 2317163	NM_153046.3(TDRD9):c.296G>T (p.Arg99Leu)	TDRD9 (R99L)	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
Select item 789823	NM_153046.3(TDRD9):c.323-10C>T	TDRD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718196	NM_153046.3(TDRD9):c.332C>T (p.Pro111Leu)	TDRD9 (P111L)	Single nucleotide variant (missense variant)	TDRD9-related disorder +1 more	GBenign
Select item 776863	NM_153046.3(TDRD9):c.360= (p.Thr120=)	TDRD9	Variation (no sequence alteration)	not provided	GBenign
Select item 3035459	NM_153046.3(TDRD9):c.421-3T>C	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related disorder	GLikely benign
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 1027805	NM_153046.3(TDRD9):c.448G>A (p.Val150Met)	TDRD9 (V150M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3049271	NM_153046.3(TDRD9):c.531C>T (p.Ser177=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related disorder	GLikely benign
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 3175549	NM_153046.3(TDRD9):c.599G>T (p.Ser200Ile)	TDRD9 (S200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041885	NM_153046.3(TDRD9):c.624A>T (p.Gly208=)	TDRD9	Single nucleotide variant (synonymous variant)	TDRD9-related disorder	GLikely benign
Select item 3038035	NM_153046.3(TDRD9):c.642+8T>G	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related disorder	GLikely benign
Select item 788582	NM_153046.3(TDRD9):c.694A>G (p.Thr232Ala)	TDRD9 (T232A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 560416	NM_153046.3(TDRD9):c.720_723del (p.Ser241fs)	TDRD9 (S241fs)	Microsatellite (frameshift variant)	Spermatogenic failure 30 +1 more	GPathogenic
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 2054504	NM_153046.3(TDRD9):c.775C>T (p.Arg259Ter)	TDRD9 (R259*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2332314	NM_153046.3(TDRD9):c.820T>G (p.Leu274Val)	TDRD9 (L274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2268387	NM_153046.3(TDRD9):c.836G>A (p.Arg279His)	TDRD9 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263862	NM_153046.3(TDRD9):c.856A>T (p.Met286Leu)	TDRD9 (M286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040471	NM_153046.3(TDRD9):c.907G>C (p.Val303Leu)	TDRD9 (V303L)	Single nucleotide variant (missense variant)	TDRD9-related disorder	GBenign
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 2523801	NM_153046.3(TDRD9):c.967G>A (p.Glu323Lys)	TDRD9 (E323K)	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 2366663	NM_153046.3(TDRD9):c.1022A>G (p.His341Arg)	TDRD9 (H341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049822	NM_153046.3(TDRD9):c.1103T>C (p.Met368Thr)	TDRD9 (M368T)	Single nucleotide variant (missense variant)	TDRD9-related disorder	GLikely benign
Select item 2267290	NM_153046.3(TDRD9):c.1133G>C (p.Gly378Ala)	TDRD9 (G378A)	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 3175532	NM_153046.3(TDRD9):c.1234A>G (p.Arg412Gly)	TDRD9 (R412G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024498	NM_153046.3(TDRD9):c.1243G>T (p.Val415Phe)	TDRD9 (V415F)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 3235980	NM_153046.3(TDRD9):c.1310G>T (p.Gly437Val)	TDRD9 (G437V)	Single nucleotide variant (missense variant)	Spermatogenic failure 30	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 2269062	NM_153046.3(TDRD9):c.1511A>G (p.Tyr504Cys)	TDRD9 (Y504C)	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 2389308	NM_153046.3(TDRD9):c.1613T>A (p.Val538Glu)	TDRD9 (V538E)	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 2510065	NM_153046.3(TDRD9):c.1654A>G (p.Thr552Ala)	TDRD9 (T552A)	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 3175534	NM_153046.3(TDRD9):c.1691G>A (p.Arg564His)	TDRD9 (R564H)	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 2387606	NM_153046.3(TDRD9):c.1921C>T (p.Arg641Trp)	TDRD9 (R641W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235206	NM_153046.3(TDRD9):c.1922G>A (p.Arg641Gln)	TDRD9 (R641Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713999	NM_153046.3(TDRD9):c.1953G>A (p.Val651=)	TDRD9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3235186	NM_153046.3(TDRD9):c.2031_2032del (p.Glu679fs)	TDRD9 (E679fs)	Deletion (frameshift variant)	Spermatogenic failure 30	GLikely pathogenic
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 2400443	NM_153046.3(TDRD9):c.2042G>A (p.Arg681Gln)	TDRD9 (R681Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230604	NM_153046.3(TDRD9):c.2048C>T (p.Pro683Leu)	TDRD9 (P683L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301818	NM_153046.3(TDRD9):c.2106+2T>A	TDRD9	Single nucleotide variant (splice donor variant)	Spermatogenic failure 30	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 2610037	NM_153046.3(TDRD9):c.2210G>A (p.Arg737Gln)	TDRD9 (R737Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034799	NM_153046.3(TDRD9):c.2223+3G>A	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related disorder	GLikely benign
Select item 2226239	NM_153046.3(TDRD9):c.2287G>A (p.Ala763Thr)	TDRD9 (A763T)	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 2559124	NM_153046.3(TDRD9):c.2368A>G (p.Lys790Glu)	TDRD9 (K790E)	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 735736	NM_153046.3(TDRD9):c.2406C>T (p.Val802=)	TDRD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3052446	NM_153046.3(TDRD9):c.2607-5T>C	TDRD9	Single nucleotide variant (intron variant)	TDRD9-related disorder	GBenign

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