ClinVar for Gene (Select 85363) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2641544	NM_001005168.3(OR52E8):c.312C>G (p.Phe104Leu)	OR52E8, TRIM5 (F104L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641543	NM_001385662.1(OR52N5):c.499_500del (p.Pro167fs)	OR52N5, TRIM5 (P167fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2641542	NM_006074.5(TRIM22):c.1324C>T (p.Arg442Cys)	TRIM22, TRIM5 (R438C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641541	NM_001003818.3(TRIM6):c.1100A>G (p.His367Arg)	TRIM5, TRIM6 (H164R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2621998	NM_033034.3(TRIM5):c.727G>A (p.Val243Met)	TRIM5 (V243M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621634	NM_001003818.3(TRIM6):c.1271A>G (p.Gln424Arg)	TRIM5, TRIM6 (Q221R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619963	NM_033034.3(TRIM5):c.907G>T (p.Val303Leu)	TRIM5 (V303L)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2604373	NM_033034.3(TRIM5):c.668A>T (p.Gln223Leu)	TRIM5 (Q223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595148	NM_033034.3(TRIM5):c.974C>A (p.Pro325Gln)	TRIM5 (P325Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2589672	NM_033034.3(TRIM5):c.1385A>G (p.Tyr462Cys)	TRIM5 (Y462C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
Select item 2550021	NM_001003818.3(TRIM6):c.1158G>C (p.Glu386Asp)	TRIM5, TRIM6 (E183D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541635	NM_033034.3(TRIM5):c.175C>T (p.Arg59Trp)	TRIM5 (R59W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532518	NM_001003818.3(TRIM6):c.1391T>C (p.Phe464Ser)	TRIM5, TRIM6 (F261S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2492724	NM_033034.3(TRIM5):c.1055A>G (p.Gln352Arg)	TRIM5 (Q352R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2484359	NM_033034.3(TRIM5):c.713G>A (p.Arg238Gln)	TRIM5 (R238Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478709	NM_033034.3(TRIM5):c.821G>C (p.Arg274Thr)	TRIM5 (R274T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478708	NM_033034.3(TRIM5):c.1054C>G (p.Gln352Glu)	TRIM5 (Q352E)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2408128	NM_033034.3(TRIM5):c.1121G>A (p.Gly374Glu)	TRIM5 (G374E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395009	NM_033034.3(TRIM5):c.1308T>G (p.Asp436Glu)	TRIM5 (D436E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2394048	NM_001003818.3(TRIM6):c.1538G>A (p.Arg513His)	TRIM5, TRIM6 (R485H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387443	NM_033034.3(TRIM5):c.212G>A (p.Arg71Gln)	LOC126861119, TRIM5 (R71Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376827	NM_001003818.3(TRIM6):c.1504C>A (p.Pro502Thr)	TRIM5, TRIM6 (P299T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376059	NM_033034.3(TRIM5):c.1015T>A (p.Phe339Ile)	TRIM5 (F339I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367199	NM_033034.3(TRIM5):c.284G>C (p.Cys95Ser)	LOC126861119, TRIM5 (C95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365787	NM_001003818.3(TRIM6):c.506A>G (p.Gln169Arg)	TRIM5, TRIM6 (Q141R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336194	NM_001003818.3(TRIM6):c.1025T>C (p.Leu342Pro)	TRIM5, TRIM6 (L139P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316016	NM_001003818.3(TRIM6):c.1427A>C (p.Asn476Thr)	TRIM6, TRIM5 (N448T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313514	NM_001003818.3(TRIM6):c.1084T>C (p.Ser362Pro)	TRIM6, TRIM5 (S159P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303228	NM_033034.3(TRIM5):c.1247G>C (p.Ser416Thr)	TRIM5 (S416T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2284910	NM_033034.3(TRIM5):c.922A>G (p.Ile308Val)	TRIM5 (I308V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271167	NM_033034.3(TRIM5):c.1358A>G (p.Asn453Ser)	TRIM5 (N453S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2261861	NM_033034.3(TRIM5):c.400G>A (p.Val134Ile)	LOC126861119, TRIM5 (V134I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252667	NM_001003818.3(TRIM6):c.1007A>G (p.His336Arg)	TRIM5, TRIM6 (H133R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248617	NM_033034.3(TRIM5):c.594T>A (p.Asn198Lys)	TRIM5 (N198K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2248200	NM_001003818.3(TRIM6):c.1376G>A (p.Arg459His)	TRIM5, TRIM6 (R256H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242979	NM_033034.3(TRIM5):c.1127G>A (p.Cys376Tyr)	TRIM5 (C376Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2225468	NM_001003818.3(TRIM6):c.1185G>C (p.Trp395Cys)	TRIM6, TRIM5 (W367C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215033	NM_001003818.3(TRIM6):c.1534C>T (p.Arg512Cys)	TRIM6, TRIM5 (R512C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211378	NM_033034.3(TRIM5):c.211C>T (p.Arg71Trp)	LOC126861119, TRIM5 (R71W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1341222	GRCh37/hg19 11p15.4(chr11:5488908-5701819)x1	OR52B6, OR52D1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980413	GRCh37/hg19 11p15.4(chr11:5642000-5853662)x1	OR52N5, OR56B1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 980408	GRCh37/hg19 11p15.4(chr11:5485211-5693876)x1	OR52B6, TRIM6 +6 more	Copy number loss	not provided	GUncertain significance
Select item 815404	GRCh37/hg19 11p15.4(chr11:5505304-6199376)x3	TRIM5, OR56B4 +22 more	Copy number gain	not provided	GLikely benign
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 783592	NM_033034.3(TRIM5):c.687A>G (p.Arg229=)	TRIM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770213	NM_033034.3(TRIM5):c.745-7T>C	TRIM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768421	NM_033034.3(TRIM5):c.1436C>T (p.Pro479Leu)	TRIM5 (P479L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 752556	NM_001003818.3(TRIM6):c.546G>A (p.Glu182=)	TRIM5, TRIM6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 730591	NM_033034.3(TRIM5):c.744+10G>A	TRIM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727334	NM_001003818.3(TRIM6):c.510G>T (p.Glu170Asp)	TRIM5, TRIM6 (E142D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 442099	GRCh37/hg19 11p15.4(chr11:5485210-5719251)x1	OR52B6, OR52D1 +7 more	Copy number loss	See cases	GLikely benign
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 161478	NM_021616.6(TRIM34):c.-5G>A	LOC130005185, TRIM34 +1 more (S353N)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 68