ClinVar for Gene (Select 9212) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132353	NM_004217.4(AURKB):c.961G>T (p.Val321Phe)	AURKB (V169F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132352	NM_004217.4(AURKB):c.927G>C (p.Arg309Ser)	AURKB (R141S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132351	NM_004217.4(AURKB):c.742C>T (p.Arg248Cys)	AURKB (R248C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132350	NM_004217.4(AURKB):c.581A>G (p.Lys194Arg)	AURKB (K195R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132349	NM_004217.4(AURKB):c.553G>T (p.Ala185Ser)	AURKB (A144S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132348	NM_004217.4(AURKB):c.198C>A (p.Asp66Glu)	AURKB (D25E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3132347	NM_004217.4(AURKB):c.169G>C (p.Val57Leu)	AURKB (V57L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3031939	NM_004217.4(AURKB):c.939G>A (p.Ser313=)	AURKB	Single nucleotide variant (synonymous variant +1 more)	AURKB-related condition	GLikely benign
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2608466	NM_004217.4(AURKB):c.126G>A (p.Met42Ile)	AURKB (M42I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2557000	NM_004217.4(AURKB):c.886G>A (p.Val296Met)	AURKB (V255M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2292523	NM_004217.4(AURKB):c.130C>T (p.Arg44Cys)	AURKB (R3C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288146	NM_004217.4(AURKB):c.475C>T (p.Arg159Cys)	AURKB (R118C +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2266712	NM_004217.4(AURKB):c.283C>G (p.Arg95Gly)	AURKB (R95G +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2216412	NM_004217.4(AURKB):c.314T>C (p.Leu105Pro)	AURKB (L105P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526568	GRCh37/hg19 17p13.1(chr17:7593552-8225803)	ALOX12B, ALOX15B +29 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	ALOX12B, ALOX15B +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 931198	NM_004217.4(AURKB):c.74C>T (p.Pro25Leu)	AURKB (P25L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 931197	NM_004217.4(AURKB):c.634G>C (p.Gly212Arg)	AURKB (G171R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 815902	GRCh37/hg19 17p13.1(chr17:7937691-8247776)x3	BORCS6, AURKB +18 more	Copy number gain	not provided	GUncertain significance
Select item 764909	NM_004217.4(AURKB):c.837C>T (p.Asn279=)	AURKB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 more	Copy number gain	not provided	GUncertain significance
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 638622	NM_004217.4(AURKB):c.847C>T (p.Arg283Cys)	AURKB (R115C +6 more)	Single nucleotide variant (missense variant +1 more)	NK-cell enteropathy	GLikely pathogenic
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 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC112533665, LOC116276454 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 221530	GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3	ALOXE3, AURKB +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221394	GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3	ALOXE3, AURKB +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	LOC130060203, LOC130060204 +110 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +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

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Links from Gene

Items: 46