"Ambry Genetics"[submitter] AND "CAPN7"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2233708	NM_014296.3(CAPN7):c.19G>C (p.Glu7Gln)	CAPN7 (E7Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3137182	NM_014296.3(CAPN7):c.35A>G (p.Gln12Arg)	CAPN7 (Q12R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2355195	NM_014296.3(CAPN7):c.80C>G (p.Ser27Cys)	CAPN7 (S27C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3263235	NM_014296.3(CAPN7):c.86C>T (p.Ala29Val)	CAPN7 (A29V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3137174	NM_014296.3(CAPN7):c.109G>A (p.Ala37Thr)	CAPN7 (A37T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2327968	NM_014296.3(CAPN7):c.116C>A (p.Ala39Asp)	CAPN7 (A39D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2609426	NM_014296.3(CAPN7):c.181C>G (p.Leu61Val)	CAPN7 (L17V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491543	NM_014296.3(CAPN7):c.188G>C (p.Arg63Thr)	CAPN7 (R19T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484206	NM_014296.3(CAPN7):c.220A>C (p.Lys74Gln)	CAPN7 (K74Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257183	NM_014296.3(CAPN7):c.230A>G (p.Asp77Gly)	CAPN7 (D77G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617058	NM_014296.3(CAPN7):c.263A>G (p.Glu88Gly)	CAPN7 (E44G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263236	NM_014296.3(CAPN7):c.299A>C (p.Glu100Ala)	CAPN7 (E100A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317582	NM_014296.3(CAPN7):c.373T>C (p.Tyr125His)	CAPN7 (Y81H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297312	NM_014296.3(CAPN7):c.422G>C (p.Arg141Pro)	CAPN7 (R97P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229640	NM_014296.3(CAPN7):c.493A>G (p.Ser165Gly)	CAPN7 (S121G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137183	NM_014296.3(CAPN7):c.715A>T (p.Met239Leu)	CAPN7 (M148L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137184	NM_014296.3(CAPN7):c.923A>G (p.Lys308Arg)	CAPN7 (K241R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565829	NM_014296.3(CAPN7):c.937G>A (p.Gly313Ser)	CAPN7 (G246S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555724	NM_014296.3(CAPN7):c.1000G>A (p.Val334Ile)	CAPN7 (V334I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137173	NM_014296.3(CAPN7):c.1028G>A (p.Arg343Lys)	CAPN7 (R299K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288803	NM_014296.3(CAPN7):c.1159G>A (p.Asp387Asn)	CAPN7 (D320N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263234	NM_014296.3(CAPN7):c.1257G>C (p.Lys419Asn)	CAPN7 (K328N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137175	NM_014296.3(CAPN7):c.1366C>T (p.Pro456Ser)	CAPN7 (P389S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137176	NM_014296.3(CAPN7):c.1404C>G (p.Phe468Leu)	CAPN7 (F401L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137177	NM_014296.3(CAPN7):c.1450C>T (p.Arg484Cys)	CAPN7 (R440C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137178	NM_014296.3(CAPN7):c.1492A>G (p.Thr498Ala)	CAPN7 (T454A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600045	NM_014296.3(CAPN7):c.1621G>A (p.Gly541Ser)	CAPN7 (G450S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257988	NM_014296.3(CAPN7):c.1706A>G (p.Asn569Ser)	CAPN7 (N502S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263237	NM_014296.3(CAPN7):c.1778T>C (p.Ile593Thr)	CAPN7 (I549T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137179	NM_014296.3(CAPN7):c.2033C>T (p.Thr678Ile)	CAPN7 (T611I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399396	NM_014296.3(CAPN7):c.2084A>G (p.Lys695Arg)	CAPN7 (K510R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486531	NM_014296.3(CAPN7):c.2107G>A (p.Gly703Arg)	CAPN7 (G588R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137180	NM_014296.3(CAPN7):c.2212A>G (p.Ser738Gly)	CAPN7 (S623G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263656	NM_014296.3(CAPN7):c.2245C>G (p.Leu749Val)	CAPN7 (L634V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3263233	NM_014296.3(CAPN7):c.2254C>T (p.Pro752Ser)	CAPN7 (P685S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249885	NM_014296.3(CAPN7):c.2305T>C (p.Phe769Leu)	CAPN7 (F584L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371173	NM_014296.3(CAPN7):c.2348A>G (p.Asn783Ser)	CAPN7 (N668S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406043	NM_014296.3(CAPN7):c.2416C>T (p.Pro806Ser)	CAPN7 (P739S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38