TRIM72[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 157363	NC_000016.10:g.31209548_31215370del	TRIM72	Deletion	Small for gestational age	Gnot provided
Select item 3182813	NM_001008274.4(TRIM72):c.73G>A (p.Val25Met)	TRIM72 (V25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493188	NM_001008274.4(TRIM72):c.91C>T (p.His31Tyr)	TRIM72 (H31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182798	NM_001008274.4(TRIM72):c.109T>C (p.Cys37Arg)	TRIM72 (C37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182800	NM_001008274.4(TRIM72):c.118C>A (p.Arg40Ser)	TRIM72 (R40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182802	NM_001008274.4(TRIM72):c.158G>A (p.Cys53Tyr)	TRIM72 (C53Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328941	NM_001008274.4(TRIM72):c.169C>G (p.Gln57Glu)	TRIM72 (Q57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182803	NM_001008274.4(TRIM72):c.205C>A (p.Leu69Met)	TRIM72 (L69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328940	NM_001008274.4(TRIM72):c.224T>A (p.Val75Glu)	TRIM72 (V75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457434	NM_001008274.4(TRIM72):c.382C>T (p.Arg128Cys)	TRIM72 (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356033	NM_001008274.4(TRIM72):c.385C>T (p.Leu129Phe)	TRIM72 (L129F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484431	NM_152901.4(PYDC1):c.247G>C (p.Ala83Pro)	PYDC1, TRIM72 (A83P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150184	NM_152901.4(PYDC1):c.233T>C (p.Met78Thr)	PYDC1, TRIM72 (M78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150183	NM_152901.4(PYDC1):c.223G>T (p.Asp75Tyr)	PYDC1, TRIM72 (D75Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150182	NM_152901.4(PYDC1):c.191A>G (p.Tyr64Cys)	PYDC1, TRIM72 (Y64C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292720	NM_152901.4(PYDC1):c.161A>G (p.Asp54Gly)	PYDC1, TRIM72 (D54G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182804	NM_001008274.4(TRIM72):c.451G>A (p.Val151Met)	TRIM72 (V151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472056	NM_001008274.4(TRIM72):c.475G>T (p.Val159Leu)	TRIM72 (V159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278080	NM_001008274.4(TRIM72):c.491C>T (p.Thr164Ile)	TRIM72 (T164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182807	NM_001008274.4(TRIM72):c.496C>A (p.Arg166Ser)	TRIM72 (R166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182808	NM_001008274.4(TRIM72):c.497G>A (p.Arg166His)	TRIM72 (R166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212879	NM_001008274.4(TRIM72):c.500A>T (p.Gln167Leu)	TRIM72 (Q167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286086	NM_001008274.4(TRIM72):c.506G>T (p.Arg169Leu)	TRIM72 (R169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621200	NM_001008274.4(TRIM72):c.512C>A (p.Ala171Asp)	TRIM72 (A171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513954	NM_001008274.4(TRIM72):c.529G>T (p.Gly177Cys)	TRIM72 (G177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182809	NM_001008274.4(TRIM72):c.541G>T (p.Val181Leu)	TRIM72 (V181L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182810	NM_001008274.4(TRIM72):c.551C>T (p.Ala184Val)	TRIM72 (A184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775373	NM_001008274.4(TRIM72):c.574C>T (p.Arg192Cys)	TRIM72 (R192C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3182811	NM_001008274.4(TRIM72):c.593G>A (p.Arg198Gln)	TRIM72 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368022	NM_001008274.4(TRIM72):c.617G>T (p.Arg206Leu)	TRIM72 (R206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768774	NM_001008274.4(TRIM72):c.618C>T (p.Arg206=)	TRIM72	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2475989	NM_001008274.4(TRIM72):c.620G>A (p.Arg207Gln)	TRIM72 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320119	NM_001008274.4(TRIM72):c.641C>G (p.Ser214Cys)	TRIM72 (S214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258055	NM_001008274.4(TRIM72):c.671A>C (p.Lys224Thr)	TRIM72 (K224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182814	NM_001008274.4(TRIM72):c.778C>T (p.Arg260Cys)	TRIM72 (R260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359604	NM_001008274.4(TRIM72):c.779G>A (p.Arg260His)	TRIM72 (R260H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727981	NM_001008274.4(TRIM72):c.807A>C (p.Ser269=)	TRIM72	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3182815	NM_001008274.4(TRIM72):c.937T>C (p.Cys313Arg)	TRIM72 (C313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214507	NM_001008274.4(TRIM72):c.962C>T (p.Ala321Val)	TRIM72 (A321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347672	NM_001008274.4(TRIM72):c.1016A>T (p.Gln339Leu)	TRIM72 (Q339L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594490	NM_001008274.4(TRIM72):c.1067G>A (p.Arg356His)	TRIM72 (R356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182799	NM_001008274.4(TRIM72):c.1102C>A (p.Arg368Ser)	TRIM72 (R368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350963	NM_001008274.4(TRIM72):c.1117C>T (p.His373Tyr)	TRIM72 (H373Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328942	NM_001008274.4(TRIM72):c.1154T>C (p.Leu385Pro)	TRIM72 (L385P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323231	NM_001008274.4(TRIM72):c.1238T>C (p.Ile413Thr)	TRIM72 (I413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543452	NM_001008274.4(TRIM72):c.1258G>C (p.Gly420Arg)	TRIM72 (G420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182801	NM_001008274.4(TRIM72):c.1270C>A (p.Leu424Ile)	TRIM72 (L424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533746	NM_001008274.4(TRIM72):c.1310C>T (p.Pro437Leu)	TRIM72 (P437L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612926	NM_001008274.4(TRIM72):c.1360G>A (p.Asp454Asn)	TRIM72 (D454N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549105	NM_001008274.4(TRIM72):c.1382G>A (p.Gly461Asp)	TRIM72 (G461D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511890	NM_001008274.4(TRIM72):c.1397C>T (p.Pro466Leu)	TRIM72 (P466L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809296	GRCh37/hg19 16p11.2(chr16:31187744-31334923)x1	FUS, ITGAM +3 more	Copy number loss	not provided	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443161	GRCh37/hg19 16p11.2(chr16:31198100-31407832)x3	FUS, ITGAD +5 more	Copy number gain	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221519	GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	AHSP, ARMC5 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 67