"GeneDx"[submitter] AND "CAPN15"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152602	GRCh38/hg38 16p13.3(chr16:492760-565476)x3	CAPN15, LINC00235 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 3364116	NM_005632.3(CAPN15):c.470C>T (p.Thr157Met)	CAPN15 (T157M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368900	NM_005632.3(CAPN15):c.1282C>T (p.Arg428Trp)	CAPN15 (R428W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369320	NM_005632.3(CAPN15):c.1465G>A (p.Val489Met)	CAPN15 (V489M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1074293	NM_005632.3(CAPN15):c.1838C>T (p.Ser613Leu)	CAPN15 (S613L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428804	NM_005632.3(CAPN15):c.1876G>A (p.Glu626Lys)	CAPN15 (E626K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 1700870	NM_005632.3(CAPN15):c.2195T>C (p.Leu732Pro)	CAPN15 (L732P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810410	NM_005632.3(CAPN15):c.2206C>T (p.Arg736Ter)	CAPN15 (R736*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3263207	NM_005632.3(CAPN15):c.2327A>C (p.Glu776Ala)	CAPN15 (E776A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328727	NM_005632.3(CAPN15):c.2346-19G>A	CAPN15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328728	NM_005632.3(CAPN15):c.2346-5T>C	CAPN15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575578	NM_005632.3(CAPN15):c.2600G>A (p.Arg867His)	CAPN15 (R867H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575854	NM_005632.3(CAPN15):c.3084-11C>G	CAPN15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 253809	GRCh37/hg19 16p13.3(chr16:239130-841725)x3	STUB1, CIAO3 +32 more	Copy number gain	See cases	GUncertain significance
Select item 253755	GRCh37/hg19 16p13.3(chr16:450686-1007236)x3	MSLN, PRR35 +27 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic

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Items: 21