ClinVar for Gene (Select 7706) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182317	NM_005082.5(TRIM25):c.995A>G (p.Lys332Arg)	TRIM25 (K332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182316	NM_005082.5(TRIM25):c.760G>A (p.Ala254Thr)	TRIM25 (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182315	NM_005082.5(TRIM25):c.712G>A (p.Val238Met)	TRIM25 (V238M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182314	NM_005082.5(TRIM25):c.691C>T (p.Arg231Trp)	TRIM25 (R231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182313	NM_005082.5(TRIM25):c.673A>G (p.Asn225Asp)	TRIM25 (N225D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182312	NM_005082.5(TRIM25):c.626T>A (p.Met209Lys)	TRIM25 (M209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182311	NM_005082.5(TRIM25):c.529C>G (p.His177Asp)	TRIM25 (H177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182310	NM_005082.5(TRIM25):c.280G>A (p.Ala94Thr)	TRIM25 (A94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182308	NM_005082.5(TRIM25):c.247C>T (p.Arg83Trp)	TRIM25 (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182307	NM_005082.5(TRIM25):c.1667C>G (p.Thr556Ser)	TRIM25 (T556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182306	NM_005082.5(TRIM25):c.142T>A (p.Tyr48Asn)	TRIM25 (Y48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182305	NM_005082.5(TRIM25):c.1270G>T (p.Ala424Ser)	TRIM25 (A424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545381	NM_005082.5(TRIM25):c.893G>A (p.Ser298Asn)	TRIM25 (S298N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542473	NM_005082.5(TRIM25):c.1461C>A (p.Asn487Lys)	TRIM25 (N487K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517664	NM_005082.5(TRIM25):c.688G>A (p.Val230Met)	TRIM25 (V230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482137	NM_005082.5(TRIM25):c.1408G>A (p.Val470Met)	TRIM25 (V470M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455285	NM_005082.5(TRIM25):c.1284C>A (p.Ser428Arg)	TRIM25 (S428R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399201	NM_005082.5(TRIM25):c.1117A>G (p.Thr373Ala)	TRIM25 (T373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370461	NM_005082.5(TRIM25):c.1745A>G (p.Asn582Ser)	TRIM25 (N582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358447	NM_005082.5(TRIM25):c.1369A>G (p.Ile457Val)	TRIM25 (I457V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352902	NM_005082.5(TRIM25):c.1127C>T (p.Ser376Phe)	TRIM25 (S376F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338564	NM_005082.5(TRIM25):c.1781C>T (p.Ala594Val)	TRIM25 (A594V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294917	NM_005082.5(TRIM25):c.1480A>G (p.Arg494Gly)	TRIM25 (R494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261745	NM_005082.5(TRIM25):c.451G>C (p.Asp151His)	TRIM25 (D151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226347	NM_005082.5(TRIM25):c.566C>T (p.Ala189Val)	TRIM25 (A189V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221168	NM_005082.5(TRIM25):c.562C>T (p.Pro188Ser)	TRIM25 (P188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217797	NM_005082.5(TRIM25):c.1591G>A (p.Gly531Arg)	TRIM25 (G531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215116	NM_005082.5(TRIM25):c.1634A>G (p.Asn545Ser)	TRIM25 (N545S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210374	NM_005082.5(TRIM25):c.440C>T (p.Pro147Leu)	TRIM25 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206298	NM_005082.5(TRIM25):c.287C>A (p.Ala96Asp)	TRIM25 (A96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 783791	NM_005082.5(TRIM25):c.648G>A (p.Ala216=)	TRIM25	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777203	NM_005082.5(TRIM25):c.553A>G (p.Thr185Ala)	TRIM25 (T185A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770267	NM_005082.5(TRIM25):c.1725G>A (p.Thr575=)	TRIM25	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734745	NM_005082.5(TRIM25):c.1650C>T (p.Cys550=)	TRIM25	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 564455	GRCh37/hg19 17q22(chr17:54584318-55220914)x1	NOG, COIL +5 more	Copy number loss	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44