ClinVar for Gene (Select 26168) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317437	NM_015670.6(SENP3):c.788C>T (p.Pro263Leu)	SENP3, SENP3-EIF4A1 (P263L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317435	NM_015670.6(SENP3):c.1670C>A (p.Pro557His)	SENP3, SENP3-EIF4A1 (P557H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317434	NM_015670.6(SENP3):c.712T>G (p.Ser238Ala)	SENP3, SENP3-EIF4A1 (S238A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317433	NM_015670.6(SENP3):c.538C>T (p.Pro180Ser)	SENP3, SENP3-EIF4A1 (P180S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317432	NM_015670.6(SENP3):c.910G>A (p.Gly304Ser)	SENP3, SENP3-EIF4A1 (G304S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3159961	NM_015670.6(SENP3):c.908C>T (p.Ala303Val)	SENP3, SENP3-EIF4A1 (A303V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159960	NM_015670.6(SENP3):c.828C>T (p.Ile276=)	SENP3, SENP3-EIF4A1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3159959	NM_015670.6(SENP3):c.79C>G (p.Pro27Ala)	SENP3, SENP3-EIF4A1 (P27A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159958	NM_015670.6(SENP3):c.716G>A (p.Gly239Asp)	SENP3, SENP3-EIF4A1 (G239D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159957	NM_015670.6(SENP3):c.670G>T (p.Asp224Tyr)	SENP3, SENP3-EIF4A1 (D224Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159956	NM_015670.6(SENP3):c.628A>G (p.Arg210Gly)	SENP3, SENP3-EIF4A1 (R210G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159955	NM_015670.6(SENP3):c.262G>A (p.Asp88Asn)	SENP3, SENP3-EIF4A1 (D88N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2604858	NM_015670.6(SENP3):c.1144G>T (p.Ala382Ser)	SENP3, SENP3-EIF4A1 (A382S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2568732	NM_015670.6(SENP3):c.255G>C (p.Glu85Asp)	SENP3, SENP3-EIF4A1 (E85D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528573	NM_015670.6(SENP3):c.229G>A (p.Glu77Lys)	SENP3, SENP3-EIF4A1 (E77K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2488415	NM_015670.6(SENP3):c.559G>C (p.Asp187His)	SENP3, SENP3-EIF4A1 (D187H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX12B, ALOX15B +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2395558	NM_015670.6(SENP3):c.772G>C (p.Glu258Gln)	SENP3, SENP3-EIF4A1 (E258Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2390386	NM_015670.6(SENP3):c.409C>T (p.Leu137Phe)	SENP3, SENP3-EIF4A1 (L137F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355307	NM_015670.6(SENP3):c.301A>G (p.Arg101Gly)	SENP3, SENP3-EIF4A1 (R101G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2293184	NM_015670.6(SENP3):c.354T>A (p.His118Gln)	SENP3, SENP3-EIF4A1 (H118Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291825	NM_015670.6(SENP3):c.787C>A (p.Pro263Thr)	SENP3, SENP3-EIF4A1 (P263T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275935	NM_015670.6(SENP3):c.980C>G (p.Thr327Arg)	SENP3, SENP3-EIF4A1 (T327R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265274	NM_015670.6(SENP3):c.686C>T (p.Thr229Ile)	SENP3, SENP3-EIF4A1 (T229I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2250516	NM_015670.6(SENP3):c.655C>T (p.Pro219Ser)	SENP3, SENP3-EIF4A1 (P219S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226774	NM_015670.6(SENP3):c.742G>C (p.Gly248Arg)	SENP3, SENP3-EIF4A1 (G248R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223949	NM_015670.6(SENP3):c.818T>C (p.Val273Ala)	SENP3, SENP3-EIF4A1 (V273A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2218950	NM_015670.6(SENP3):c.470G>A (p.Arg157Gln)	SENP3, SENP3-EIF4A1 (R157Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2209762	NM_015670.6(SENP3):c.91C>T (p.Arg31Cys)	SENP3, SENP3-EIF4A1 (R31C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1801810	NM_015670.6(SENP3):c.1544G>T (p.Trp515Leu)	SENP3, SENP3-EIF4A1 (W515L)	Single nucleotide variant (non-coding transcript variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1341139	GRCh37/hg19 17p13.1(chr17:7453504-7734096)x3	FXR2, CD68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815901	GRCh37/hg19 17p13.1(chr17:7381536-7535411)x1	TNFSF12-TNFSF13, ZBTB4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 150702	GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3	ATP1B2, CD68 +36 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 59