ClinVar for Gene (Select 57093) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328791	NM_020358.2(TRIM49):c.856C>G (p.Arg286Gly)	TRIM49 (R286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328789	NM_020358.2(TRIM49):c.424C>A (p.Gln142Lys)	TRIM49 (Q142K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328788	NM_020358.2(TRIM49):c.334T>C (p.Cys112Arg)	TRIM49 (C112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328787	NM_020358.2(TRIM49):c.1279C>A (p.Gln427Lys)	TRIM49 (Q427K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328786	NM_020358.2(TRIM49):c.325A>C (p.Ser109Arg)	TRIM49 (S109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328785	NM_020358.2(TRIM49):c.664A>G (p.Arg222Gly)	TRIM49 (R222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328784	NM_020358.2(TRIM49):c.1058G>T (p.Trp353Leu)	TRIM49 (W353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328783	NM_020358.2(TRIM49):c.941A>C (p.Asp314Ala)	TRIM49 (D314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182531	NM_020358.2(TRIM49):c.815C>G (p.Ala272Gly)	TRIM49 (A272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182530	NM_020358.2(TRIM49):c.379C>T (p.Arg127Cys)	TRIM49 (R127C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182529	NM_020358.2(TRIM49):c.1304C>G (p.Pro435Arg)	TRIM49 (P435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182528	NM_020358.2(TRIM49):c.1256C>A (p.Thr419Asn)	TRIM49 (T419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182527	NM_020358.2(TRIM49):c.1159A>G (p.Ile387Val)	TRIM49 (I387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182525	NM_020358.2(TRIM49):c.1145G>A (p.Cys382Tyr)	TRIM49 (C382Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182524	NM_020358.2(TRIM49):c.1004C>A (p.Thr335Asn)	TRIM49 (T335N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613265	NM_020358.2(TRIM49):c.857G>A (p.Arg286Gln)	TRIM49 (R286Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613180	NM_020358.2(TRIM49):c.275T>C (p.Met92Thr)	TRIM49 (M92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611977	NM_020358.2(TRIM49):c.280G>C (p.Gly94Arg)	TRIM49 (G94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558717	NM_020358.2(TRIM49):c.878A>G (p.His293Arg)	TRIM49 (H293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556427	NM_020358.2(TRIM49):c.393G>T (p.Trp131Cys)	TRIM49 (W131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546706	NM_020358.2(TRIM49):c.894T>G (p.Asn298Lys)	TRIM49 (N298K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487937	NM_020358.2(TRIM49):c.838G>A (p.Asp280Asn)	TRIM49 (D280N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469864	NM_020358.2(TRIM49):c.713A>G (p.His238Arg)	TRIM49 (H238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386953	NM_020358.2(TRIM49):c.702C>G (p.Asn234Lys)	TRIM49 (N234K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384969	NM_020358.2(TRIM49):c.95A>G (p.His32Arg)	TRIM49 (H32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382604	NM_020358.2(TRIM49):c.227T>G (p.Leu76Arg)	TRIM49 (L76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372444	NM_020358.2(TRIM49):c.1085G>A (p.Arg362Gln)	TRIM49 (R362Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348390	NM_020358.2(TRIM49):c.833T>C (p.Leu278Pro)	TRIM49 (L278P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344631	NM_020358.2(TRIM49):c.703G>A (p.Glu235Lys)	TRIM49 (E235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344594	NM_020358.2(TRIM49):c.783C>G (p.His261Gln)	TRIM49 (H261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320248	NM_020358.2(TRIM49):c.1223G>A (p.Arg408Gln)	TRIM49 (R408Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316059	NM_020358.2(TRIM49):c.988G>C (p.Ala330Pro)	TRIM49 (A330P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295084	NM_020358.2(TRIM49):c.391T>G (p.Trp131Gly)	TRIM49 (W131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260266	NM_020358.2(TRIM49):c.7T>C (p.Ser3Pro)	TRIM49 (S3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213581	NM_020358.2(TRIM49):c.1112T>C (p.Ile371Thr)	TRIM49 (I371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211891	NM_020358.2(TRIM49):c.793C>G (p.Pro265Ala)	TRIM49 (P265A)	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 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 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 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
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 150882	GRCh38/hg38 11q14.3(chr11:89727372-89972044)x3	TRIM49, TRIM49D1 +3 more	Copy number gain	See cases	GLikely benign
Select item 148384	GRCh38/hg38 11q14.3(chr11:89650515-90084741)x1	FOLH1B, TRIM49 +6 more	Copy number loss	See cases	GLikely benign
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 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 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

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Links from Gene

Items: 63