TRIM77[gene] - ClinVar

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Items: 59

	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 3182823	NM_001146162.1(TRIM77):c.7T>G (p.Ser3Ala)	TRIM77 (S3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222277	NM_001146162.1(TRIM77):c.13A>G (p.Ile5Val)	TRIM77 (I5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461108	NM_001146162.1(TRIM77):c.17C>T (p.Thr6Met)	TRIM77 (T6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592516	NM_001146162.1(TRIM77):c.76G>C (p.Val26Leu)	TRIM77 (V26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328946	NM_001146162.1(TRIM77):c.133G>T (p.Asp45Tyr)	TRIM77 (D45Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455318	NM_001146162.1(TRIM77):c.247T>G (p.Cys83Gly)	TRIM77 (C83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328943	NM_001146162.1(TRIM77):c.346T>G (p.Ser116Ala)	TRIM77 (S116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328944	NM_001146162.1(TRIM77):c.349C>A (p.Gln117Lys)	TRIM77 (Q117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302055	NM_001146162.1(TRIM77):c.372C>A (p.His124Gln)	TRIM77 (H124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182818	NM_001146162.1(TRIM77):c.440T>C (p.Ile147Thr)	TRIM77 (I147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225190	NM_001146162.1(TRIM77):c.445A>G (p.Lys149Glu)	TRIM77 (K149E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328945	NM_001146162.1(TRIM77):c.454C>A (p.Gln152Lys)	TRIM77 (Q152K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182819	NM_001146162.1(TRIM77):c.479G>A (p.Arg160Lys)	TRIM77 (R160K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385656	NM_001146162.1(TRIM77):c.524G>A (p.Arg175Gln)	TRIM77 (R175Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317756	NM_001146162.1(TRIM77):c.545A>T (p.Glu182Val)	TRIM77 (E182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527481	NM_001146162.1(TRIM77):c.556G>A (p.Val186Met)	TRIM77 (V186M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302641	NM_001146162.1(TRIM77):c.563A>C (p.Gln188Pro)	TRIM77 (Q188P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512764	NM_001146162.1(TRIM77):c.572G>A (p.Arg191His)	TRIM77 (R191H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525389	NM_001146162.1(TRIM77):c.592G>A (p.Val198Ile)	TRIM77 (V198I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319994	NM_001146162.1(TRIM77):c.614G>A (p.Gly205Asp)	TRIM77 (G205D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182821	NM_001146162.1(TRIM77):c.619A>G (p.Ile207Val)	TRIM77 (I207V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339742	NM_001146162.1(TRIM77):c.748G>A (p.Asp250Asn)	TRIM77 (D173N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551587	NM_001146162.1(TRIM77):c.751G>A (p.Val251Ile)	TRIM77 (V174I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593026	NM_001146162.1(TRIM77):c.793C>T (p.Pro265Ser)	TRIM77 (P265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182824	NM_001146162.1(TRIM77):c.832G>T (p.Val278Leu)	TRIM77 (V201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361478	NM_001146162.1(TRIM77):c.869C>T (p.Thr290Ile)	TRIM77 (T213I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182825	NM_001146162.1(TRIM77):c.916C>A (p.Leu306Ile)	TRIM77 (L306I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544022	NM_001146162.1(TRIM77):c.935G>T (p.Ser312Ile)	TRIM77 (S235I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182826	NM_001146162.1(TRIM77):c.967A>G (p.Thr323Ala)	TRIM77 (T246A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374533	NM_001146162.1(TRIM77):c.1006C>G (p.Leu336Val)	TRIM77 (L259V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3328947	NM_001146162.1(TRIM77):c.1012T>C (p.Ser338Pro)	TRIM77 (S338P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590141	NM_001146162.1(TRIM77):c.1030G>A (p.Glu344Lys)	TRIM77 (E267K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590142	NM_001146162.1(TRIM77):c.1031A>G (p.Glu344Gly)	TRIM77 (E344G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182817	NM_001146162.1(TRIM77):c.1063A>G (p.Ile355Val)	TRIM77 (I355V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618161	NM_001146162.1(TRIM77):c.1271C>T (p.Ala424Val)	TRIM77 (A347V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529577	NM_001146162.1(TRIM77):c.1275A>C (p.Gln425His)	TRIM77 (Q348H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297057	NM_001146162.1(TRIM77):c.1342G>A (p.Gly448Arg)	TRIM77 (G371R +1 more)	Single nucleotide variant (missense variant)	not specified	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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
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 815455	GRCh37/hg19 11q14.3(chr11:89071360-89543740)x3	FOLH1B, NOX4 +2 more	Copy number gain	not provided	GUncertain significance
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 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 226280	GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385)	CTSC, FOLH1B +14 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

ClinVar

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Items: 59