TRIM48[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2342279	NM_024114.5(TRIM48):c.8G>A (p.Arg3Gln)	TRIM48 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182518	NM_024114.5(TRIM48):c.14T>A (p.Ile5Asn)	TRIM48 (I5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457476	NM_024114.5(TRIM48):c.20T>A (p.Val7Glu)	TRIM48 (V7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315277	NM_024114.5(TRIM48):c.20T>C (p.Val7Ala)	TRIM48 (V7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328780	NM_024114.5(TRIM48):c.26C>A (p.Thr9Asn)	TRIM48 (T9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262189	NM_024114.5(TRIM48):c.56C>A (p.Ser19Tyr)	TRIM48 (S19Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182523	NM_024114.5(TRIM48):c.98T>C (p.Ile33Thr)	TRIM48 (I33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182517	NM_024114.5(TRIM48):c.124G>T (p.Val42Phe)	TRIM48 (V42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271753	NM_024114.5(TRIM48):c.137G>A (p.Cys46Tyr)	TRIM48 (C46Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358733	NM_024114.5(TRIM48):c.147C>G (p.Ser49Arg)	TRIM48 (S49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328781	NM_024114.5(TRIM48):c.154A>G (p.Arg52Gly)	TRIM48 (R52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307359	NM_024114.5(TRIM48):c.187C>A (p.Pro63Thr)	TRIM48 (P63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551510	NM_024114.5(TRIM48):c.202T>C (p.Cys68Arg)	TRIM48 (C68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182519	NM_024114.5(TRIM48):c.260A>C (p.Lys87Thr)	TRIM48 (K87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480225	NM_024114.5(TRIM48):c.262A>C (p.Lys88Gln)	TRIM48 (K88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328778	NM_024114.5(TRIM48):c.274C>A (p.Leu92Ile)	TRIM48 (L92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182520	NM_024114.5(TRIM48):c.292C>A (p.Leu98Ile)	TRIM48 (L98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641786	NM_024114.5(TRIM48):c.300A>G (p.Leu100=)	TRIM48	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373867	NM_024114.5(TRIM48):c.331A>G (p.Ile111Val)	TRIM48 (I111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328782	NM_024114.5(TRIM48):c.446C>T (p.Ala149Val)	TRIM48 (A149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357716	NM_024114.5(TRIM48):c.485C>G (p.Ser162Cys)	TRIM48 (S162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319378	NM_024114.5(TRIM48):c.497A>C (p.Lys166Thr)	TRIM48 (K166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547901	NM_024114.5(TRIM48):c.533C>T (p.Thr178Ile)	TRIM48 (T178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299815	NM_024114.5(TRIM48):c.535A>C (p.Thr179Pro)	TRIM48 (T179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145000	GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3	LOC126861207, OR10AG1 +28 more	Copy number gain	See cases	GBenign
Select item 3182521	NM_024114.5(TRIM48):c.622G>A (p.Ala208Thr)	TRIM48 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454898	NM_024114.5(TRIM48):c.631G>A (p.Ala211Thr)	TRIM48 (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182522	NM_024114.5(TRIM48):c.632C>T (p.Ala211Val)	TRIM48 (A211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537944	NM_024114.5(TRIM48):c.635G>C (p.Gly212Ala)	TRIM48 (G212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264245	NM_024114.5(TRIM48):c.657C>A (p.Asp219Glu)	TRIM48 (D219E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484950	NM_024114.5(TRIM48):c.667C>A (p.Gln223Lys)	TRIM48 (Q223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340449	GRCh37/hg19 11p11.12-q12.1(chr11:51164494-56879839)x3	OR10AG1, OR4A15 +47 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 442071	GRCh37/hg19 11p11.12-q12.1(chr11:51183548-56977098)x3	LRRC55, OR10AG1 +48 more	Copy number gain	See cases	GUncertain significance
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 395409	GRCh37/hg19 11q11-12.1(chr11:55033164-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign
Select item 395111	GRCh37/hg19 11q11-12.1(chr11:55029738-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign

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Items: 43