ClinVar for Gene (Select 6790) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333572	NM_198437.3(AURKA):c.647G>A (p.Gly216Glu)	AURKA (G216E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333561	NM_198437.3(AURKA):c.278A>G (p.Asn93Ser)	AURKA, LOC126863064 (N127S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3333550	NM_198437.3(AURKA):c.1132C>G (p.Leu378Val)	AURKA (L378V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333541	NM_198437.3(AURKA):c.145T>G (p.Cys49Gly)	AURKA, LOC126863064 (C49G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333532	NM_198437.3(AURKA):c.590A>G (p.Tyr197Cys)	AURKA (Y231C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3132343	NM_198437.3(AURKA):c.968T>C (p.Leu323Ser)	AURKA (L323S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132342	NM_198437.3(AURKA):c.8G>T (p.Arg3Leu)	AURKA (R37L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065561	NM_198437.3(AURKA):c.1085G>T (p.Arg362Ile)	AURKA (R362I +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 3059051	NM_198437.3(AURKA):c.169A>G (p.Ile57Val)	AURKA, LOC126863064 (I57V +1 more)	Single nucleotide variant (missense variant)	AURKA-related disorder	GBenign
Select item 3051836	NM_198437.3(AURKA):c.320-6A>G	AURKA	Single nucleotide variant (intron variant)	AURKA-related disorder	GLikely benign
Select item 3037417	NM_198437.3(AURKA):c.*3A>C	AURKA	Single nucleotide variant (3 prime UTR variant)	AURKA-related disorder	GBenign
Select item 3033554	NM_198437.3(AURKA):c.311C>T (p.Ser104Leu)	AURKA, LOC126863064 (S104L +1 more)	Single nucleotide variant (missense variant)	AURKA-related disorder	GLikely benign
Select item 2620010	NM_198437.3(AURKA):c.314C>T (p.Ala105Val)	AURKA, LOC126863064 (A105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610055	NM_198437.3(AURKA):c.209C>T (p.Pro70Leu)	AURKA, LOC126863064 (P104L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601244	NM_198437.3(AURKA):c.189G>C (p.Lys63Asn)	AURKA, LOC126863064 (K63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2471489	NM_198437.3(AURKA):c.222G>C (p.Gln74His)	AURKA, LOC126863064 (Q74H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387765	NM_198437.3(AURKA):c.1040C>T (p.Thr347Ile)	AURKA (T347I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809070	GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	AURKA, BCAS1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 800338	NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu)	AURKA (F346L)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 732689	NM_198437.3(AURKA):c.21C>T (p.Asn7=)	AURKA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442642	GRCh37/hg19 20q13.2-13.31(chr20:54541125-55162415)x3	AURKA, CASS4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 6642	NM_198437.3(AURKA):c.91T>A (p.Phe31Ile)	AURKA, LOC126863064 (F31I)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 36