TRIM64B[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 153608	GRCh38/hg38 11q14.3(chr11:89425778-90689442)x1	CHORDC1, DISC1FP1 +17 more	Copy number loss	See cases	GUncertain significance
Select item 151987	GRCh38/hg38 11q14.3(chr11:89613604-89898870)x1	FOLH1B, LOC124544575 +3 more	Copy number loss	See cases	GUncertain significance
Select item 148384	GRCh38/hg38 11q14.3(chr11:89650515-90084741)x1	FOLH1B, TRIM49 +6 more	Copy number loss	See cases	GLikely benign
Select item 150882	GRCh38/hg38 11q14.3(chr11:89727372-89972044)x3	TRIM49, TRIM49D1 +3 more	Copy number gain	See cases	GLikely benign
Select item 2281077	NM_001164397.3(TRIM64B):c.1257T>G (p.Phe419Leu)	TRIM64B (F419L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328883	NM_001164397.3(TRIM64B):c.1235A>T (p.Tyr412Phe)	TRIM64B (Y412F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182668	NM_001164397.3(TRIM64B):c.1223T>C (p.Val408Ala)	TRIM64B (V408A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359109	NM_001164397.3(TRIM64B):c.1169C>T (p.Thr390Ile)	TRIM64B (T390I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349187	NM_001164397.3(TRIM64B):c.1118A>G (p.Glu373Gly)	TRIM64B (E373G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593479	NM_001164397.3(TRIM64B):c.1079C>T (p.Ser360Phe)	TRIM64B (S360F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182666	NM_001164397.3(TRIM64B):c.1073G>A (p.Arg358Gln)	TRIM64B (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589995	NM_001164397.3(TRIM64B):c.1053C>A (p.Asn351Lys)	TRIM64B (N351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338141	NM_001164397.3(TRIM64B):c.1040C>A (p.Thr347Asn)	TRIM64B (T347N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364154	NM_001164397.3(TRIM64B):c.1009T>C (p.Ser337Pro)	TRIM64B (S337P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182673	NM_001164397.3(TRIM64B):c.992G>A (p.Gly331Glu)	TRIM64B (G331E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508855	NM_001164397.3(TRIM64B):c.947G>A (p.Ser316Asn)	TRIM64B (S316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399211	NM_001164397.3(TRIM64B):c.865G>T (p.Ala289Ser)	TRIM64B (A289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566526	NM_001164397.3(TRIM64B):c.827G>T (p.Gly276Val)	TRIM64B (G276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224790	NM_001164397.3(TRIM64B):c.721G>A (p.Val241Met)	TRIM64B (V241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270287	NM_001164397.3(TRIM64B):c.608A>T (p.Glu203Val)	TRIM64B (E203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383310	NM_001164397.3(TRIM64B):c.584G>T (p.Arg195Leu)	TRIM64B (R195L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182671	NM_001164397.3(TRIM64B):c.583C>T (p.Arg195Trp)	TRIM64B (R195W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286759	NM_001164397.3(TRIM64B):c.539T>C (p.Ile180Thr)	TRIM64B (I180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328889	NM_001164397.3(TRIM64B):c.538A>G (p.Ile180Val)	TRIM64B (I180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590026	NM_001164397.3(TRIM64B):c.487A>C (p.Thr163Pro)	TRIM64B (T163P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182670	NM_001164397.3(TRIM64B):c.430G>T (p.Asp144Tyr)	TRIM64B (D144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182669	NM_001164397.3(TRIM64B):c.359A>C (p.His120Pro)	TRIM64B (H120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410564	NM_001164397.3(TRIM64B):c.346G>C (p.Glu116Gln)	TRIM64B (E116Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353378	NM_001164397.3(TRIM64B):c.284A>G (p.His95Arg)	TRIM64B (H95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328887	NM_001164397.3(TRIM64B):c.275G>T (p.Cys92Phe)	TRIM64B (C92F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238948	NM_001164397.3(TRIM64B):c.275G>A (p.Cys92Tyr)	TRIM64B (C92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537566	NM_001164397.3(TRIM64B):c.256A>G (p.Asn86Asp)	TRIM64B (N86D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328886	NM_001164397.3(TRIM64B):c.221C>T (p.Ser74Phe)	TRIM64B (S74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328888	NM_001164397.3(TRIM64B):c.214A>G (p.Lys72Glu)	TRIM64B (K72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590027	NM_001164397.3(TRIM64B):c.122T>C (p.Leu41Pro)	TRIM64B (L41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182672	NM_001164397.3(TRIM64B):c.88T>C (p.Cys30Arg)	TRIM64B (C30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328884	NM_001164397.3(TRIM64B):c.46T>G (p.Cys16Gly)	TRIM64B (C16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353040	NM_001164397.3(TRIM64B):c.15C>A (p.Asp5Glu)	TRIM64B (D5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296961	NM_001164397.3(TRIM64B):c.13G>A (p.Asp5Asn)	TRIM64B (D5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684652	GRCh37/hg19 11q14.3(chr11:89602560-90979365)x3	CHORDC1, NAALAD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1809119	GRCh37/hg19 11q14.3(chr11:89474818-89887082)x1	NAALAD2, TRIM49 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527660	GRCh37/hg19 11q14.3(chr11:89514122-92745981)	CHORDC1, FAT3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815454	GRCh37/hg19 11q14.3(chr11:89062443-89762600)x3	FOLH1B, NOX4 +6 more	Copy number gain	not provided	GLikely benign
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 635866	Single allele	CHORDC1, NAALAD2 +7 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 394676	GRCh37/hg19 11q14.3(chr11:89540275-89956475)x3	CHORDC1, NAALAD2 +7 more	Copy number gain	See cases	GBenign
Select item 226280	GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385)	CTSC, FOLH1B +14 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 62