ClinVar for Gene (Select 51127) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328653	NM_016102.4(TRIM17):c.56G>C (p.Cys19Ser)	TRIM17 (C19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328652	NM_016102.4(TRIM17):c.856C>G (p.Gln286Glu)	TRIM17 (Q286E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328651	NM_016102.4(TRIM17):c.1391G>A (p.Gly464Asp)	TRIM17 (G464D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328650	NM_016102.4(TRIM17):c.19G>A (p.Ala7Thr)	TRIM17 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328649	NM_016102.4(TRIM17):c.790G>A (p.Val264Met)	TRIM17 (V264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182264	NM_016102.4(TRIM17):c.940C>T (p.Arg314Cys)	TRIM17 (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182263	NM_016102.4(TRIM17):c.844A>G (p.Arg282Gly)	TRIM17 (R282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182262	NM_016102.4(TRIM17):c.725G>A (p.Arg242Gln)	TRIM17 (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182261	NM_016102.4(TRIM17):c.622G>A (p.Glu208Lys)	TRIM17 (E208K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182260	NM_016102.4(TRIM17):c.461G>A (p.Arg154Gln)	TRIM17 (R154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182259	NM_016102.4(TRIM17):c.444G>T (p.Glu148Asp)	TRIM17 (E148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182258	NM_016102.4(TRIM17):c.322C>G (p.Leu108Val)	TRIM17 (L108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182257	NM_016102.4(TRIM17):c.1298G>T (p.Ser433Ile)	TRIM17 (S433I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182256	NM_016102.4(TRIM17):c.1214C>T (p.Ala405Val)	TRIM17 (A405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182254	NM_016102.4(TRIM17):c.109C>G (p.Arg37Gly)	TRIM17 (R37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	CCSAP, ABCB10 +21 more	Copy number loss	not specified	GPathogenic
Select item 2640059	NM_016102.4(TRIM17):c.315C>T (p.Pro105=)	TRIM17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640058	NM_016102.4(TRIM17):c.883+137T>C	TRIM17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2589762	NM_016102.4(TRIM17):c.680G>A (p.Arg227Gln)	TRIM17 (R227Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2564552	NM_016102.4(TRIM17):c.868C>A (p.Leu290Ile)	TRIM17 (L290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544627	NM_016102.4(TRIM17):c.101A>G (p.Asn34Ser)	TRIM17 (N34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535652	NM_016102.4(TRIM17):c.374G>A (p.Arg125Gln)	TRIM17 (R125Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379491	NM_016102.4(TRIM17):c.1284A>T (p.Glu428Asp)	TRIM17 (E428D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375708	NM_016102.4(TRIM17):c.542G>A (p.Arg181Gln)	TRIM17 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373404	NM_016102.4(TRIM17):c.1235T>G (p.Met412Arg)	TRIM17 (M412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364078	NM_016102.4(TRIM17):c.820C>G (p.Pro274Ala)	TRIM17 (P274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358588	NM_016102.4(TRIM17):c.860T>C (p.Ile287Thr)	TRIM17 (I287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339917	NM_016102.4(TRIM17):c.83T>G (p.Met28Arg)	TRIM17 (M28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339074	NM_016102.4(TRIM17):c.679C>T (p.Arg227Trp)	TRIM17 (R227W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306257	NM_016102.4(TRIM17):c.929T>C (p.Leu310Pro)	TRIM17 (L310P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295606	NM_016102.4(TRIM17):c.1239G>C (p.Glu413Asp)	TRIM17 (E413D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263478	NM_016102.4(TRIM17):c.203T>C (p.Met68Thr)	TRIM17 (M68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236209	NM_016102.4(TRIM17):c.1300G>T (p.Val434Leu)	TRIM17 (V434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210476	NM_016102.4(TRIM17):c.1201T>C (p.Ser401Pro)	TRIM17 (S401P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1341048	GRCh37/hg19 1q42.13(chr1:228439893-228716927)x3	BTNL10, H2AW +6 more	Copy number gain	not provided	GLikely benign
Select item 1328448	GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1	ARF1, BTNL10 +22 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979937	GRCh37/hg19 1q42.13(chr1:228456544-228716927)x3	H2AW, TRIM17 +6 more	Copy number gain	not provided	GLikely benign
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814174	GRCh37/hg19 1q42.13(chr1:228459781-228849579)x3	RHOU, OBSCN +7 more	Copy number gain	not provided	GLikely benign
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 769554	NM_016102.4(TRIM17):c.517G>A (p.Glu173Lys)	TRIM17 (E173K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711813	NM_016102.4(TRIM17):c.27A>G (p.Lys9=)	TRIM17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711812	NM_016102.4(TRIM17):c.88A>G (p.Thr30Ala)	TRIM17 (T30A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711811	NM_016102.4(TRIM17):c.263A>G (p.Gln88Arg)	TRIM17 (Q88R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711810	NM_016102.4(TRIM17):c.413C>T (p.Ala138Val)	TRIM17 (A138V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687403	GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3	ARF1, BTNL10 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 684942	GRCh37/hg19 1q42.13(chr1:228408651-229301909)x4	BTNL10, H2AC25 +7 more	Copy number gain	not provided	GUncertain significance
Select item 590949	GRCh37/hg19 1q42.13(chr1:228297613-228703236)	GUK1, H2AC25 +14 more	Copy number gain	Aortic valve disease 1	GUncertain significance
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565231	GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3	ARF1, GJC2 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	ARF1, BTNL10 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 83