"GeneDx"[submitter] AND "AURKC"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 151461	GRCh38/hg38 19q13.43(chr19:57167550-57236826)x1	AURKC, LOC130065162 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1289687	NC_000019.10:g.57230669G>A	AURKC	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1183936	NC_000019.10:g.57230880C>T	AURKC	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 330224	NM_001015878.2(AURKC):c.-145G>C	AURKC	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 330225	NM_001015878.2(AURKC):c.-128C>T	AURKC	Single nucleotide variant (5 prime UTR variant +2 more)	Infertility associated with multi-tailed spermatozoa and excessive DNA +2 more	GBenign
Select item 1295147	NM_001015878.2(AURKC):c.-120_-107del	AURKC	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 330226	NM_001015878.2(AURKC):c.-99dup	AURKC	Duplication (5 prime UTR variant +1 more)	Spermatogenic Failure +1 more	GConflicting classifications of pathogenicity
Select item 1257509	NM_001015878.2(AURKC):c.58+29A>G	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229063	NM_001015878.2(AURKC):c.59-71T>C	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262537	NM_001015878.2(AURKC):c.59-43C>G	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248562	NM_001015878.2(AURKC):c.105-67C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296875	NM_001015878.2(AURKC):c.297-144C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247657	NM_001015878.2(AURKC):c.435+154A>C	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236604	NM_001015878.2(AURKC):c.435+324G>A	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222780	NM_001015878.2(AURKC):c.584+146C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254238	NM_001015878.2(AURKC):c.584+159A>C	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262935	NM_001015878.2(AURKC):c.584+284C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267343	NM_001015878.2(AURKC):c.585-180C>T	AURKC	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 21