"GeneDx"[submitter] AND "LOC130007218"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 58207	GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3	ANO2, KCNA1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 1316112	NM_000217.3(KCNA1):c.38C>T (p.Ser13Leu)	KCNA1, LOC130007218 (S13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317250	NM_000217.3(KCNA1):c.47dup (p.His18fs)	KCNA1, LOC130007218 (H18fs)	Duplication (frameshift variant)	not provided	GUncertain significance

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