TRIM49B[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 150629	GRCh38/hg38 11p11.2-11.12(chr11:47992987-49135735)x3	LOC111464990, LOC112081399 +18 more	Copy number gain	See cases	GUncertain significance
Select item 153449	GRCh38/hg38 11p11.12(chr11:48946095-50560016)x1	OR4C13, OR4C45 +6 more	Copy number loss	See cases	GUncertain significance
Select item 776610	NM_001206626.2(TRIM49B):c.1A>G (p.Met1Val)	TRIM49B (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2406039	NM_001206626.2(TRIM49B):c.13A>G (p.Ile5Val)	TRIM49B (I5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182539	NM_001206626.2(TRIM49B):c.41T>C (p.Ile14Thr)	TRIM49B (I14T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214884	NM_001206626.2(TRIM49B):c.61T>C (p.Tyr21His)	TRIM49B (Y21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182536	NM_001206626.2(TRIM49B):c.124A>C (p.Asn42His)	TRIM49B (N42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182537	NM_001206626.2(TRIM49B):c.179G>A (p.Gly60Glu)	TRIM49B (G60E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316506	NM_001206626.2(TRIM49B):c.223T>C (p.Ser75Pro)	TRIM49B (S75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182538	NM_001206626.2(TRIM49B):c.302A>G (p.Lys101Arg)	TRIM49B (K101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490825	NM_001206626.2(TRIM49B):c.351C>G (p.Ser117Arg)	TRIM49B (S117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402052	NM_001206626.2(TRIM49B):c.364C>T (p.Arg122Trp)	TRIM49B (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641777	NM_001206626.2(TRIM49B):c.414G>A (p.Glu138=)	TRIM49B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343506	NM_001206626.2(TRIM49B):c.462T>A (p.Asn154Lys)	TRIM49B (N154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339521	NM_001206626.2(TRIM49B):c.475A>G (p.Asn159Asp)	TRIM49B (N159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182540	NM_001206626.2(TRIM49B):c.493A>G (p.Thr165Ala)	TRIM49B (T165A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182541	NM_001206626.2(TRIM49B):c.502T>G (p.Trp168Gly)	TRIM49B (W168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182542	NM_001206626.2(TRIM49B):c.558G>A (p.Met186Ile)	TRIM49B (M186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593449	NM_001206626.2(TRIM49B):c.632G>A (p.Arg211Gln)	TRIM49B (R211Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317026	NM_001206626.2(TRIM49B):c.686T>C (p.Met229Thr)	TRIM49B (M229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182543	NM_001206626.2(TRIM49B):c.713A>G (p.His238Arg)	TRIM49B (H238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238408	NM_001206626.2(TRIM49B):c.724G>A (p.Val242Met)	TRIM49B (V242M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375971	NM_001206626.2(TRIM49B):c.740C>G (p.Ala247Gly)	TRIM49B (A247G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351875	NM_001206626.2(TRIM49B):c.787C>T (p.Pro263Ser)	TRIM49B (P263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595450	NM_001206626.2(TRIM49B):c.817G>C (p.Gly273Arg)	TRIM49B (G273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182544	NM_001206626.2(TRIM49B):c.833T>C (p.Leu278Pro)	TRIM49B (L278P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218608	NM_001206626.2(TRIM49B):c.857G>A (p.Arg286Gln)	TRIM49B (R286Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406828	NM_001206626.2(TRIM49B):c.927G>A (p.Met309Ile)	TRIM49B (M309I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386430	NM_001206626.2(TRIM49B):c.937T>C (p.Cys313Arg)	TRIM49B (C313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558040	NM_001206626.2(TRIM49B):c.945T>A (p.His315Gln)	TRIM49B (H315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265321	NM_001206626.2(TRIM49B):c.986T>C (p.Leu329Pro)	TRIM49B (L329P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182532	NM_001206626.2(TRIM49B):c.1030G>C (p.Glu344Gln)	TRIM49B (E344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344120	NM_001206626.2(TRIM49B):c.1033G>T (p.Val345Phe)	TRIM49B (V345F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293198	NM_001206626.2(TRIM49B):c.1063T>C (p.Phe355Leu)	TRIM49B (F355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299816	NM_001206626.2(TRIM49B):c.1096A>G (p.Asn366Asp)	TRIM49B (N366D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182533	NM_001206626.2(TRIM49B):c.1104T>A (p.Asn368Lys)	TRIM49B (N368K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182534	NM_001206626.2(TRIM49B):c.1114G>T (p.Asp372Tyr)	TRIM49B (D372Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263058	NM_001206626.2(TRIM49B):c.1132T>G (p.Phe378Val)	TRIM49B (F378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286655	NM_001206626.2(TRIM49B):c.1174T>G (p.Phe392Val)	TRIM49B (F392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465895	NM_001206626.2(TRIM49B):c.1354T>C (p.Phe452Leu)	TRIM49B (F452L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979919	GRCh37/hg19 11p11.2-11.12(chr11:48242702-49562051)x3	TRIM49B, OR4C3 +6 more	Copy number gain	not provided	GLikely benign
Select item 563864	GRCh37/hg19 11p11.2-11.12(chr11:48116066-49170890)x3	OR4X1, TRIM49B +8 more	Copy number gain	not provided	GLikely benign
Select item 443530	GRCh37/hg19 11p11.2-11.12(chr11:48149532-49434855)x3	FOLH1, OR4A47 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 50