LOC126863064[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
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 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +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 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 2620010	NM_198437.3(AURKA):c.314C>T (p.Ala105Val)	AURKA, LOC126863064 (A105V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033554	NM_198437.3(AURKA):c.311C>T (p.Ser104Leu)	AURKA, LOC126863064 (S104L +1 more)	Single nucleotide variant (missense variant)	AURKA-related condition	GLikely benign
Select item 2471489	NM_198437.3(AURKA):c.222G>C (p.Gln74His)	AURKA, LOC126863064 (Q74H)	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 3059051	NM_198437.3(AURKA):c.169A>G (p.Ile57Val)	AURKA, LOC126863064 (I57V +1 more)	Single nucleotide variant (synonymous variant +1 more)	AURKA-related condition	GBenign
Select item 6642	NM_198437.3(AURKA):c.91T>A (p.Phe31Ile)	AURKA, LOC126863064 (F31I)	Single nucleotide variant (missense variant)	AURKA-related condition +1 more	GBenign