ASB16[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 2647817	NM_080863.5(ASB16):c.82C>A (p.Arg28=)	ASB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3130149	NM_080863.5(ASB16):c.83G>A (p.Arg28Gln)	ASB16 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359664	NM_080863.5(ASB16):c.85C>T (p.Arg29Trp)	ASB16 (R29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230286	NM_080863.5(ASB16):c.89G>A (p.Arg30Gln)	ASB16 (R30Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364983	NM_080863.5(ASB16):c.92C>T (p.Ala31Val)	ASB16 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317323	NM_080863.5(ASB16):c.109C>T (p.Arg37Trp)	ASB16 (R37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399037	NM_080863.5(ASB16):c.110G>A (p.Arg37Gln)	ASB16 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392602	NM_080863.5(ASB16):c.116G>A (p.Arg39His)	ASB16 (R39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519341	NM_080863.5(ASB16):c.136C>T (p.Arg46Trp)	ASB16 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395372	NM_080863.5(ASB16):c.137G>A (p.Arg46Gln)	ASB16 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596062	NM_080863.5(ASB16):c.290C>T (p.Ser97Leu)	ASB16 (S97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317374	NM_080863.5(ASB16):c.317C>A (p.Thr106Asn)	ASB16 (T106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246103	NM_080863.5(ASB16):c.382C>G (p.Arg128Gly)	ASB16 (R128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130146	NM_080863.5(ASB16):c.418C>T (p.Arg140Cys)	ASB16 (R140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130147	NM_080863.5(ASB16):c.523G>A (p.Glu175Lys)	ASB16 (E175K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317312	NM_080863.5(ASB16):c.525G>T (p.Glu175Asp)	ASB16 (E175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647818	NM_080863.5(ASB16):c.538T>C (p.Leu180=)	ASB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3317364	NM_080863.5(ASB16):c.559G>A (p.Glu187Lys)	ASB16 (E187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459046	NM_080863.5(ASB16):c.598G>A (p.Ala200Thr)	ASB16, ASB16-AS1 (A200T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2264535	NM_080863.5(ASB16):c.635C>T (p.Thr212Met)	ASB16, ASB16-AS1 (T212M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223931	NM_080863.5(ASB16):c.658C>T (p.Arg220Cys)	ASB16, ASB16-AS1 (R220C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317355	NM_080863.5(ASB16):c.683T>C (p.Leu228Pro)	ASB16, ASB16-AS1 (L228P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2523577	NM_080863.5(ASB16):c.740T>A (p.Leu247Gln)	ASB16, ASB16-AS1 (L247Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130148	NM_080863.5(ASB16):c.797C>T (p.Ala266Val)	ASB16, ASB16-AS1 (A266V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2319397	NM_080863.5(ASB16):c.802C>T (p.Arg268Cys)	ASB16, ASB16-AS1 (R268C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2338960	NM_080863.5(ASB16):c.818C>G (p.Ala273Gly)	ASB16, ASB16-AS1 (A273G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2224978	NM_080863.5(ASB16):c.850C>T (p.Arg284Cys)	ASB16, ASB16-AS1 (R284C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300796	NM_080863.5(ASB16):c.857C>T (p.Thr286Met)	ASB16, ASB16-AS1 (T286M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317344	NM_080863.5(ASB16):c.871G>A (p.Ala291Thr)	ASB16, ASB16-AS1 (A291T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130150	NM_080863.5(ASB16):c.896T>C (p.Leu299Pro)	ASB16, ASB16-AS1 (L299P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2325813	NM_080863.5(ASB16):c.941A>G (p.Asn314Ser)	ASB16, ASB16-AS1 (N314S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317396	NM_080863.5(ASB16):c.947C>T (p.Ala316Val)	ASB16, ASB16-AS1 (A316V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130151	NM_080863.5(ASB16):c.956C>A (p.Thr319Lys)	ASB16, ASB16-AS1 (T319K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2492413	NM_080863.5(ASB16):c.958C>T (p.Pro320Ser)	ASB16, ASB16-AS1 (P320S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300372	NM_080863.5(ASB16):c.962T>C (p.Met321Thr)	ASB16, ASB16-AS1 (M321T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2647819	NM_080863.5(ASB16):c.972G>A (p.Ala324=)	ASB16, ASB16-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2374103	NM_080863.5(ASB16):c.1009G>A (p.Glu337Lys)	ASB16, ASB16-AS1 (E337K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130142	NM_080863.5(ASB16):c.1049C>T (p.Pro350Leu)	ASB16, ASB16-AS1 (P350L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 994059	NM_080863.5(ASB16):c.1055G>A (p.Arg352His)	ASB16, ASB16-AS1 (R352H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3130144	NM_080863.5(ASB16):c.1075T>G (p.Cys359Gly)	ASB16, ASB16-AS1 (C359G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2647820	NM_080863.5(ASB16):c.1161C>T (p.Leu387=)	ASB16, ASB16-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3317385	NM_080863.5(ASB16):c.1208G>A (p.Cys403Tyr)	ASB16, ASB16-AS1 (C403Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525746	NM_080863.5(ASB16):c.1237C>T (p.His413Tyr)	ASB16, ASB16-AS1 (H413Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267840	NM_080863.5(ASB16):c.1243G>A (p.Ala415Thr)	ASB16, ASB16-AS1 (A415T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130145	NM_080863.5(ASB16):c.1258C>G (p.Arg420Gly)	ASB16, ASB16-AS1 (R420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383848	NM_080863.5(ASB16):c.1295C>T (p.Thr432Ile)	ASB16, ASB16-AS1 (T432I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317333	NM_080863.5(ASB16):c.1297C>T (p.Arg433Trp)	ASB16, ASB16-AS1 (R433W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611924	NM_080863.5(ASB16):c.1298G>C (p.Arg433Pro)	ASB16, ASB16-AS1 (R433P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492121	NM_080863.5(ASB16):c.1340G>A (p.Arg447His)	ASB16, ASB16-AS1 (R447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1340600	GRCh37/hg19 17q21.31(chr17:42085508-42361563)x3	ASB16, ATXN7L3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 832076	NC_000017.11:g.(?_44027807)_(44352876_?)dup	ASB16, ATXN7L3 +10 more	Duplication	Neuronal ceroid lipofuscinosis 11 +1 more	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

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Items: 60