"GeneDx"[submitter] AND "CAPN1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 817644	NM_005186.4(CAPN1):c.188dup (p.Val64fs)	CAPN1 (V64fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1325392	NM_005186.4(CAPN1):c.267+2T>C	CAPN1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1235222	NM_005186.4(CAPN1):c.267+33A>G	CAPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192611	NM_005186.4(CAPN1):c.338-102A>T	CAPN1	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1192612	NM_005186.4(CAPN1):c.363C>T (p.Ile121=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1803480	NM_005186.4(CAPN1):c.407C>T (p.Pro136Leu)	CAPN1 (P136L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 802686	NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)	CAPN1 (G208fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 987432	NM_005186.4(CAPN1):c.759+1G>A	CAPN1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1278692	NM_005186.4(CAPN1):c.843+34G>A	CAPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489121	NM_005186.4(CAPN1):c.853C>T (p.Arg285Ter)	CAPN1 (R285*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1803478	NM_005186.4(CAPN1):c.942G>C (p.Trp314Cys)	CAPN1 (W260C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 489122	NM_005186.4(CAPN1):c.1153C>T (p.Arg385Ter)	CAPN1 (R385*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic/Likely pathogenic
Select item 1260891	NM_005186.4(CAPN1):c.1165+152A>G	CAPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253816	NM_005186.4(CAPN1):c.1298G>C (p.Arg433Pro)	CAPN1 (R433P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1192614	NM_005186.4(CAPN1):c.1341+25A>T	CAPN1	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1282381	NM_005186.4(CAPN1):c.1341+135C>G	CAPN1, LOC130005998	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266993	NM_005186.4(CAPN1):c.1354-162G>A	CAPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321673	NM_005186.4(CAPN1):c.1418G>T (p.Arg473Leu)	CAPN1 (R473L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 225768	NM_005186.4(CAPN1):c.1605+5G>A	CAPN1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1277195	NM_005186.4(CAPN1):c.1605+152C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265740	NM_005186.4(CAPN1):c.1606-140AAAAG[3]	CAPN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1258209	NM_005186.4(CAPN1):c.1729+12C>T	CAPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250662	NM_005186.4(CAPN1):c.1795-161G>A	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192615	NM_005186.4(CAPN1):c.1863+36C>T	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1270739	NM_005186.4(CAPN1):c.1864-11C>T	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192616	NM_005186.4(CAPN1):c.1942+77C>T	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1268464	NM_005186.4(CAPN1):c.1943-24C>T	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192617	NM_005186.4(CAPN1):c.2059+14A>G	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign

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Items: 28