"GeneDx"[submitter] AND "HOXC13"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 152627	GRCh38/hg38 12q13.13(chr12:53841686-54136856)x3	FAM242C, FLJ12825 +40 more	Copy number gain	See cases	GLikely benign
Select item 1311926	NM_017410.3(HOXC13):c.260C>T (p.Ala87Val)	HOXC13, HOXC13-AS (A87V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502755	NM_017410.3(HOXC13):c.802A>C (p.Thr268Pro)	HOXC13 (T268P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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