ClinVar for Gene (Select 57159) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328825	NM_187841.3(TRIM54):c.56A>G (p.Asn19Ser)	TRIM54 (N19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328824	NM_187841.3(TRIM54):c.505C>T (p.Arg169Cys)	TRIM54 (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328822	NM_187841.3(TRIM54):c.1049C>T (p.Pro350Leu)	TRIM54 (P350L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234426	NM_187841.3(TRIM54):c.156C>T (p.Asn52=)	TRIM54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3182590	NM_187841.3(TRIM54):c.734G>A (p.Arg245His)	TRIM54 (R245H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182589	NM_187841.3(TRIM54):c.709C>T (p.Arg237Trp)	TRIM54 (R237W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182588	NM_187841.3(TRIM54):c.513+221G>T	TRIM54 (Q207H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182587	NM_187841.3(TRIM54):c.312T>G (p.Ile104Met)	TRIM54 (I104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182586	NM_187841.3(TRIM54):c.1064C>T (p.Pro355Leu)	TRIM54 (P397L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3059814	NM_187841.3(TRIM54):c.843+7T>C	TRIM54	Single nucleotide variant (intron variant)	TRIM54-related disorder	GBenign
Select item 3055449	NM_187841.3(TRIM54):c.159C>T (p.Asp53=)	TRIM54	Single nucleotide variant (synonymous variant)	TRIM54-related disorder	GBenign
Select item 3052323	NM_187841.3(TRIM54):c.81C>T (p.Pro27=)	TRIM54	Single nucleotide variant (synonymous variant)	TRIM54-related disorder	GBenign
Select item 3051140	NM_187841.3(TRIM54):c.753T>C (p.Arg251=)	TRIM54	Single nucleotide variant (synonymous variant)	TRIM54-related disorder	GLikely benign
Select item 3050858	NM_187841.3(TRIM54):c.513+10_513+11del	TRIM54	Deletion (intron variant)	TRIM54-related disorder	GLikely benign
Select item 3027416	NM_187841.3(TRIM54):c.610-6T>G	TRIM54	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2605143	NM_187841.3(TRIM54):c.10A>G (p.Thr4Ala)	TRIM54 (T4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591418	NM_187841.3(TRIM54):c.1035G>C (p.Glu345Asp)	TRIM54 (E387D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542474	NM_187841.3(TRIM54):c.1025A>G (p.Asp342Gly)	TRIM54 (D384G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539845	NM_187841.3(TRIM54):c.899G>A (p.Gly300Glu)	TRIM54 (G300E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522701	NM_187841.3(TRIM54):c.404A>G (p.Asn135Ser)	TRIM54 (N135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508156	NM_187841.3(TRIM54):c.736G>A (p.Val246Ile)	TRIM54 (V246I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495142	NM_187841.3(TRIM54):c.301G>A (p.Val101Met)	TRIM54 (V101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481458	NM_187841.3(TRIM54):c.758A>G (p.Tyr253Cys)	TRIM54 (Y295C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2387453	NM_187841.3(TRIM54):c.751C>A (p.Arg251Ser)	TRIM54 (R293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377108	NM_187841.3(TRIM54):c.496A>G (p.Ile166Val)	TRIM54 (I166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362910	NM_187841.3(TRIM54):c.892C>G (p.Leu298Val)	TRIM54 (L298V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360614	NM_187841.3(TRIM54):c.940G>C (p.Val314Leu)	TRIM54 (V356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312192	NM_187841.3(TRIM54):c.994G>A (p.Ala332Thr)	TRIM54 (A374T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261354	NM_187841.3(TRIM54):c.559C>T (p.Arg187Cys)	TRIM54 (R229C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234823	NM_187841.3(TRIM54):c.266G>A (p.Arg89Lys)	TRIM54 (R89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215730	NM_187841.3(TRIM54):c.562G>A (p.Val188Met)	TRIM54 (V188M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213630	NM_187841.3(TRIM54):c.742G>A (p.Gly248Ser)	TRIM54 (G290S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 1176732	NM_187841.3(TRIM54):c.584T>G (p.Met195Arg)	TRIM54 (M195R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871083	NM_187841.3(TRIM54):c.394G>T (p.Glu132Ter)	TRIM54 (E132*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 814225	GRCh37/hg19 2p23.3(chr2:27519013-27610482)x1	PPM1G, GTF3C2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 775706	NM_187841.3(TRIM54):c.537G>A (p.Ala179=)	TRIM54	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 623968	NM_187841.3(TRIM54):c.992-1G>A	TRIM54	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 593343	NM_002437.5(MPV17):c.376-9T>G	MPV17, TRIM54 +1 more	Single nucleotide variant (intron variant)	MPV17-related mitochondrial DNA maintenance defect +2 more	GPathogenic/Likely pathogenic
Select item 444491	NM_187841.3(TRIM54):c.513+1del	TRIM54	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 56