TTC29[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 805956	NM_031956.4(TTC29):c.*334G>A	TTC29	Single nucleotide variant (3 prime UTR variant +1 more)	Spermatogenic failure 42	GPathogenic
Select item 2301050	NM_031956.4(TTC29):c.1400T>C (p.Phe467Ser)	TTC29 (F493S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593009	NM_031956.4(TTC29):c.1378C>T (p.Arg460Cys)	TTC29 (R460C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346024	NM_031956.4(TTC29):c.1228C>A (p.Leu410Ile)	TTC29 (L436I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184255	NM_031956.4(TTC29):c.1222A>G (p.Met408Val)	TTC29 (M408V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329855	NM_031956.4(TTC29):c.1178T>C (p.Met393Thr)	TTC29 (M393T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605572	NM_031956.4(TTC29):c.1157A>C (p.Glu386Ala)	TTC29 (E412A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 805959	NM_031956.4(TTC29):c.1107C>G (p.Tyr369Ter)	TTC29 (Y369* +1 more)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 42	GPathogenic
Select item 3329853	NM_031956.4(TTC29):c.1106A>C (p.Tyr369Ser)	TTC29 (Y395S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362485	NM_031956.4(TTC29):c.1031C>T (p.Ala344Val)	TTC29 (A370V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509999	NM_031956.4(TTC29):c.1001T>A (p.Ile334Asn)	TTC29 (I334N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184262	NM_031956.4(TTC29):c.992C>G (p.Thr331Arg)	TTC29 (T357R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184261	NM_031956.4(TTC29):c.987G>C (p.Glu329Asp)	TTC29 (E329D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 805961	NM_031956.4(TTC29):c.977+1G>T	TTC29	Single nucleotide variant (splice donor variant)	Spermatogenic failure 42	GPathogenic
Select item 3329854	NM_031956.4(TTC29):c.965A>T (p.Lys322Met)	TTC29 (K322M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335566	NM_031956.4(TTC29):c.940G>A (p.Gly314Arg)	TTC29 (G314R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655113	NM_031956.4(TTC29):c.851A>G (p.His284Arg)	TTC29 (H284R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3350480	NM_031956.4(TTC29):c.800-1G>A	TTC29	Single nucleotide variant (splice acceptor variant)	TTC29-related condition	GLikely pathogenic
Select item 1335567	NM_031956.4(TTC29):c.794A>G (p.Lys265Arg)	TTC29 (K265R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1675966	NM_031956.4(TTC29):c.754C>T (p.Gln252Ter)	TTC29 (Q252* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 805958	NM_031956.4(TTC29):c.750C>A (p.Tyr250Ter)	TTC29 (Y250* +1 more)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 42	GPathogenic
Select item 2508570	NM_031956.4(TTC29):c.644G>A (p.Arg215Gln)	TTC29 (R215Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366514	NM_031956.4(TTC29):c.551C>T (p.Ala184Val)	TTC29 (A184V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184260	NM_031956.4(TTC29):c.488A>G (p.Tyr163Cys)	TTC29 (Y163C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 805960	NM_031956.4(TTC29):c.412_425del (p.Asp138fs)	TTC29 (D164fs +1 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 42	GPathogenic
Select item 3184259	NM_031956.4(TTC29):c.353A>T (p.Asp118Val)	TTC29 (D144V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591696	NM_031956.4(TTC29):c.352G>T (p.Asp118Tyr)	TTC29 (D144Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 805957	NM_031956.4(TTC29):c.330_334del (p.Glu111fs)	TTC29 (E137fs +1 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 42	GPathogenic
Select item 3329851	NM_031956.4(TTC29):c.256G>A (p.Ala86Thr)	TTC29 (A86T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210153	NM_031956.4(TTC29):c.256G>C (p.Ala86Pro)	TTC29 (A112P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401770	NM_031956.4(TTC29):c.233A>G (p.His78Arg)	TTC29 (H104R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3075967	NM_031956.4(TTC29):c.217_221del (p.Leu73fs)	TTC29 (L73fs +1 more)	Deletion (frameshift variant +1 more)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 2442621	NM_031956.4(TTC29):c.176+1G>A	LOC105377473, TTC29	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3184257	NM_031956.4(TTC29):c.163G>A (p.Glu55Lys)	LOC105377473, TTC29 (E81K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184256	NM_031956.4(TTC29):c.134T>C (p.Leu45Pro)	LOC105377473, TTC29 (L71P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329856	NM_031956.4(TTC29):c.51A>C (p.Leu17Phe)	LOC105377473, TTC29 (L43F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393144	NM_031956.4(TTC29):c.35C>T (p.Pro12Leu)	LOC105377473, TTC29 (P12L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1695111	NM_031956.4(TTC29):c.-4C>T	LOC105377473, TTC29	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1455428	NC_000004.11:g.(?_146560292)_(149358012_?)del	ARHGAP10, C4orf51 +10 more	Deletion	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1340995	GRCh37/hg19 4q31.22(chr4:147784691-148234926)x3	TTC29	Copy number gain	not provided	GUncertain significance
Select item 1340592	GRCh37/hg19 4q31.22(chr4:147319707-147970747)x3	POU4F2, SLC10A7 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980696	GRCh37/hg19 4q31.22-31.23(chr4:147148581-149042791)x3	EDNRA, PRMT9 +6 more	Copy number gain	not provided	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687334	GRCh37/hg19 4q31.21-31.23(chr4:146118793-150492144)x1	ARHGAP10, C4orf51 +11 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 66