CAPN7[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
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 2653594	NM_014296.3(CAPN7):c.328A>G (p.Ile110Val)	CAPN7 (I110V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2653595	NM_014296.3(CAPN7):c.2073+1G>T	CAPN7	Single nucleotide variant (splice donor variant +1 more)	not provided	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
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 562758	GRCh37/hg19 3p25.1(chr3:15154221-15254425)x1	CAPN7	Copy number loss	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 63