TRIM71[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 2548222	NM_001039111.3(TRIM71):c.13C>G (p.Pro5Ala)	TRIM71 (P5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037046	NM_001039111.3(TRIM71):c.99G>C (p.Ser33=)	TRIM71	Single nucleotide variant (synonymous variant)	TRIM71-related condition	GLikely benign
Select item 2531674	NM_001039111.3(TRIM71):c.119C>T (p.Thr40Met)	TRIM71 (T40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341843	NM_001039111.3(TRIM71):c.199C>A (p.Arg67Ser)	TRIM71 (R67S)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1 +1 more	GUncertain significance
Select item 996339	NM_001039111.3(TRIM71):c.224_240dup (p.Gly81fs)	TRIM71 (G81fs)	Duplication (frameshift variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 2293134	NM_001039111.3(TRIM71):c.230C>G (p.Ala77Gly)	TRIM71 (A77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712982	NM_001039111.3(TRIM71):c.237C>T (p.Gly79=)	TRIM71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996340	NM_001039111.3(TRIM71):c.248C>T (p.Ala83Val)	TRIM71 (A83V)	Single nucleotide variant (missense variant)	Cryptozoospermia	GUncertain significance
Select item 3054290	NM_001039111.3(TRIM71):c.339C>T (p.Ala113=)	TRIM71	Single nucleotide variant (synonymous variant)	TRIM71-related condition	GLikely benign
Select item 996341	NM_001039111.3(TRIM71):c.368T>C (p.Val123Ala)	TRIM71 (V123A)	Single nucleotide variant (missense variant)	Cryptozoospermia	GUncertain significance
Select item 3182795	NM_001039111.3(TRIM71):c.374C>T (p.Ala125Val)	TRIM71 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1709089	NM_001039111.3(TRIM71):c.416_423dup (p.Gly142fs)	TRIM71 (G142fs)	Duplication (frameshift variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 2348100	NM_001039111.3(TRIM71):c.455A>C (p.His152Pro)	TRIM71 (H152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182796	NM_001039111.3(TRIM71):c.458C>T (p.Ala153Val)	TRIM71 (A153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590489	NM_001039111.3(TRIM71):c.485C>T (p.Ala162Val)	TRIM71 (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996342	NM_001039111.3(TRIM71):c.553G>T (p.Ala185Ser)	TRIM71 (A185S)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely benign
Select item 2249099	NM_001039111.3(TRIM71):c.563C>A (p.Pro188Gln)	TRIM71 (P188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473912	NM_001039111.3(TRIM71):c.583C>A (p.Arg195Ser)	TRIM71 (R195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329225	NM_001039111.3(TRIM71):c.622G>A (p.Ala208Thr)	TRIM71 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030058	NM_001039111.3(TRIM71):c.707A>G (p.His236Arg)	TRIM71 (H236R)	Single nucleotide variant (missense variant)	TRIM71-related condition	GLikely pathogenic
Select item 2509837	NM_001039111.3(TRIM71):c.737G>C (p.Gly246Ala)	TRIM71 (G246A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2653645	NM_001039111.3(TRIM71):c.771G>A (p.Gly257=)	TRIM71	Single nucleotide variant (synonymous variant)	TRIM71-related condition +1 more	GLikely benign
Select item 3182797	NM_001039111.3(TRIM71):c.776C>G (p.Pro259Arg)	TRIM71 (P259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996343	NM_001039111.3(TRIM71):c.785G>C (p.Gly262Ala)	TRIM71 (G262A)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely benign
Select item 996344	NM_001039111.3(TRIM71):c.803T>A (p.Leu268His)	TRIM71 (L268H)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 717582	NM_001039111.3(TRIM71):c.853-7T>C	TRIM71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653646	NM_001039111.3(TRIM71):c.948G>A (p.Glu316=)	TRIM71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474843	NM_001039111.3(TRIM71):c.967G>A (p.Ala323Thr)	TRIM71 (A323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468713	NM_001039111.3(TRIM71):c.1007G>A (p.Arg336Gln)	TRIM71 (R336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306228	NM_001039111.3(TRIM71):c.1049C>T (p.Ala350Val)	TRIM71 (A350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182789	NM_001039111.3(TRIM71):c.1062G>C (p.Glu354Asp)	TRIM71 (E354D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324863	NM_001039111.3(TRIM71):c.1070C>G (p.Ala357Gly)	TRIM71 (A357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996345	NM_001039111.3(TRIM71):c.1070C>T (p.Ala357Val)	TRIM71 (A357V)	Single nucleotide variant (missense variant)	Cryptozoospermia	GUncertain significance
Select item 1342371	NM_001039111.3(TRIM71):c.1110G>C (p.Arg370Ser)	TRIM71 (R370S)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 2326986	NM_001039111.3(TRIM71):c.1117A>C (p.Lys373Gln)	TRIM71 (K373Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429520	NM_001039111.3(TRIM71):c.1135G>A (p.Glu379Lys)	TRIM71 (E379K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619072	NM_001039111.3(TRIM71):c.1221C>A (p.Asn407Lys)	TRIM71 (N407K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182790	NM_001039111.3(TRIM71):c.1240A>T (p.Thr414Ser)	TRIM71 (T414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350666	NM_001039111.3(TRIM71):c.1343G>A (p.Arg448Gln)	TRIM71 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048827	NM_001039111.3(TRIM71):c.1452C>G (p.Ala484=)	TRIM71	Single nucleotide variant (synonymous variant)	TRIM71-related condition	GLikely benign
Select item 996346	NM_001039111.3(TRIM71):c.1486C>T (p.Arg496Cys)	TRIM71 (R496C)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 2504721	NM_001039111.3(TRIM71):c.1534C>G (p.His512Asp)	TRIM71 (H512D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996347	NM_001039111.3(TRIM71):c.1549C>T (p.Arg517Cys)	TRIM71 (R517C)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 3032384	NM_001039111.3(TRIM71):c.1557A>T (p.Ser519=)	TRIM71	Single nucleotide variant (synonymous variant)	TRIM71-related condition	GLikely benign
Select item 1803593	NM_001039111.3(TRIM71):c.1564_1577del (p.Asp522fs)	TRIM71 (D522fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 996348	NM_001039111.3(TRIM71):c.1613C>G (p.Ala538Gly)	TRIM71 (A538G)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GUncertain significance
Select item 2467166	NM_001039111.3(TRIM71):c.1658G>A (p.Arg553Gln)	TRIM71 (R553Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332316	NM_001039111.3(TRIM71):c.1766T>C (p.Ile589Thr)	TRIM71 (I589T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182792	NM_001039111.3(TRIM71):c.1777G>A (p.Gly593Ser)	TRIM71 (G593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996349	NM_001039111.3(TRIM71):c.1789G>A (p.Gly597Ser)	TRIM71 (G597S)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1 +1 more	GConflicting classifications of pathogenicity
Select item 694594	NM_001039111.3(TRIM71):c.1823G>A (p.Arg608His)	TRIM71 (R608H)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GPathogenic
Select item 684689	NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)	TRIM71 (R629H)	Single nucleotide variant (missense variant)	Congenital hydrocephalus	GLikely pathogenic
Select item 1700296	NM_001039111.3(TRIM71):c.1906T>C (p.Cys636Arg)	TRIM71 (C636R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2568868	NM_001039111.3(TRIM71):c.1946G>A (p.Arg649Gln)	TRIM71 (R649Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583009	NM_001039111.3(TRIM71):c.1959C>T (p.Phe653=)	TRIM71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3182793	NM_001039111.3(TRIM71):c.2042C>T (p.Thr681Met)	TRIM71 (T681M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683521	NM_001039111.3(TRIM71):c.2129C>G (p.Ser710Cys)	TRIM71 (S710C)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 2653647	NM_001039111.3(TRIM71):c.2145G>A (p.Leu715=)	TRIM71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3182794	NM_001039111.3(TRIM71):c.2219A>G (p.Glu740Gly)	TRIM71 (E740G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742088	NM_001039111.3(TRIM71):c.2310G>T (p.Arg770=)	TRIM71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696501	NM_001039111.3(TRIM71):c.2329G>A (p.Asp777Asn)	TRIM71 (D777N)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 2355926	NM_001039111.3(TRIM71):c.2348T>C (p.Phe783Ser)	TRIM71 (F783S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251757	NM_001039111.3(TRIM71):c.2372A>G (p.Asn791Ser)	TRIM71 (N791S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630648	NM_001039111.3(TRIM71):c.2379G>T (p.Gln793His)	TRIM71 (Q793H)	Single nucleotide variant (missense variant)	TRIM71-related condition	GUncertain significance
Select item 694595	NM_001039111.3(TRIM71):c.2387G>A (p.Arg796His)	TRIM71 (R796H)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GPathogenic
Select item 791916	NM_001039111.3(TRIM71):c.2433G>A (p.Ala811=)	TRIM71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 684688	NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln)	TRIM71 (R817Q)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 3045517	NM_001039111.3(TRIM71):c.2598_2602del (p.Val867fs)	TRIM71 (V867fs)	Deletion (frameshift variant)	TRIM71-related condition	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685913	GRCh37/hg19 3p22.3(chr3:32324460-33982773)x3	CCR4, CLASP2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527006	GRCh37/hg19 3p22.3(chr3:32699328-35286114)	CCR4, CLASP2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527005	GRCh37/hg19 3p23-22.3(chr3:31859973-33127072)	CCR4, CMTM6 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

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Items: 84