ClinVar for Gene (Select 10753) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137206	NM_006615.3(CAPN9):c.937G>C (p.Asp313His)	CAPN9 (D250H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137205	NM_006615.3(CAPN9):c.733C>T (p.Arg245Trp)	CAPN9 (R182W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137203	NM_006615.3(CAPN9):c.388A>T (p.Ile130Leu)	CAPN9 (I130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137202	NM_006615.3(CAPN9):c.316C>T (p.Leu106Phe)	CAPN9 (L106F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137201	NM_006615.3(CAPN9):c.278A>T (p.Glu93Val)	CAPN9 (E93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137200	NM_006615.3(CAPN9):c.260C>T (p.Thr87Ile)	CAPN9 (T87I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137199	NM_006615.3(CAPN9):c.1970G>A (p.Arg657Gln)	CAPN9 (R631Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137198	NM_006615.3(CAPN9):c.1838C>T (p.Thr613Ile)	CAPN9 (T613I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137197	NM_006615.3(CAPN9):c.1387C>A (p.Pro463Thr)	CAPN9 (P437T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137196	NM_006615.3(CAPN9):c.1314A>C (p.Arg438Ser)	CAPN9 (R375S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137195	NM_006615.3(CAPN9):c.1243G>A (p.Val415Met)	CAPN9 (V415M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137194	NM_006615.3(CAPN9):c.1205A>G (p.Gln402Arg)	CAPN9 (Q402R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137193	NM_006615.3(CAPN9):c.1103G>T (p.Arg368Leu)	CAPN9 (R305L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137192	NM_006615.3(CAPN9):c.1103G>A (p.Arg368His)	CAPN9 (R305H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2640071	NM_006615.3(CAPN9):c.829C>T (p.Arg277Trp)	CAPN9 (R214W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640070	NM_006615.3(CAPN9):c.390A>T (p.Ile130=)	CAPN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640069	NM_006615.3(CAPN9):c.303C>T (p.Ala101=)	CAPN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622714	NM_006615.3(CAPN9):c.13T>C (p.Tyr5His)	CAPN9 (Y5H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2619907	NM_006615.3(CAPN9):c.1571G>C (p.Arg524Pro)	CAPN9 (R498P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614910	NM_006615.3(CAPN9):c.652G>A (p.Glu218Lys)	CAPN9 (E155K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602901	NM_006615.3(CAPN9):c.220G>A (p.Val74Met)	CAPN9 (V74M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597894	NM_006615.3(CAPN9):c.439G>A (p.Asp147Asn)	CAPN9 (D147N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593877	NM_006615.3(CAPN9):c.17G>A (p.Arg6Gln)	CAPN9 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2561557	NM_006615.3(CAPN9):c.376G>A (p.Gly126Ser)	CAPN9 (G126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539316	NM_006615.3(CAPN9):c.835C>T (p.Pro279Ser)	CAPN9 (P216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536613	NM_006615.3(CAPN9):c.267C>G (p.Ile89Met)	CAPN9 (I89M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534889	NM_006615.3(CAPN9):c.289T>G (p.Cys97Gly)	CAPN9 (C97G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530236	NM_006615.3(CAPN9):c.169T>G (p.Tyr57Asp)	CAPN9 (Y57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521117	NM_006615.3(CAPN9):c.1729G>A (p.Gly577Ser)	CAPN9 (G551S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496228	NM_006615.3(CAPN9):c.1579T>C (p.Phe527Leu)	CAPN9 (F464L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490652	NM_006615.3(CAPN9):c.493C>T (p.His165Tyr)	CAPN9 (H102Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	GALNT2, C1orf131 +15 more	Deletion	not provided	GPathogenic
Select item 2425124	NC_000001.10:g.(?_230203028)_(231413288_?)del	AGT, ARV1 +10 more	Deletion	Congenital disorder of glycosylation, type IIq	GPathogenic
Select item 2410924	NM_006615.3(CAPN9):c.1717A>G (p.Met573Val)	CAPN9 (M573V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404963	NM_006615.3(CAPN9):c.1034C>T (p.Ala345Val)	CAPN9 (A282V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400580	NM_006615.3(CAPN9):c.1088C>T (p.Thr363Met)	CAPN9 (T363M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397427	NM_006615.3(CAPN9):c.1571G>A (p.Arg524Gln)	CAPN9 (R524Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384292	NM_006615.3(CAPN9):c.1591G>A (p.Ala531Thr)	CAPN9 (A505T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378854	NM_006615.3(CAPN9):c.1006C>T (p.Leu336Phe)	CAPN9 (L310F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375817	NM_006615.3(CAPN9):c.985G>A (p.Asp329Asn)	CAPN9 (D329N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372777	NM_006615.3(CAPN9):c.1812T>A (p.Asp604Glu)	CAPN9 (D604E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372662	NM_006615.3(CAPN9):c.871G>A (p.Asp291Asn)	CAPN9 (D291N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368833	NM_006615.3(CAPN9):c.16C>T (p.Arg6Trp)	CAPN9 (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349878	NM_006615.3(CAPN9):c.1483G>C (p.Asp495His)	CAPN9 (D432H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348105	NM_006615.3(CAPN9):c.320C>T (p.Thr107Met)	CAPN9 (T107M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347382	NM_006615.3(CAPN9):c.761A>G (p.His254Arg)	CAPN9 (H191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339234	NM_006615.3(CAPN9):c.343A>G (p.Arg115Gly)	CAPN9 (R115G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335813	NM_006615.3(CAPN9):c.96G>A (p.Met32Ile)	CAPN9 (M32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333541	NM_006615.3(CAPN9):c.1750G>A (p.Asp584Asn)	CAPN9 (D558N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330781	NM_006615.3(CAPN9):c.288C>G (p.Asp96Glu)	CAPN9 (D96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326522	NM_006615.3(CAPN9):c.679G>T (p.Gly227Cys)	CAPN9 (G164C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324637	NM_006615.3(CAPN9):c.1504A>G (p.Ile502Val)	CAPN9 (I439V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298323	NM_006615.3(CAPN9):c.17G>T (p.Arg6Leu)	CAPN9 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287052	NM_006615.3(CAPN9):c.203A>C (p.Lys68Thr)	CAPN9 (K68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280227	NM_006615.3(CAPN9):c.1496A>G (p.Asn499Ser)	CAPN9 (N436S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251487	NM_006615.3(CAPN9):c.1102C>T (p.Arg368Cys)	CAPN9 (R305C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243922	NM_006615.3(CAPN9):c.322C>T (p.Leu108Phe)	CAPN9 (L108F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238926	NM_006615.3(CAPN9):c.1325C>T (p.Ser442Phe)	CAPN9 (S416F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208652	NM_006615.3(CAPN9):c.1574C>A (p.Ala525Asp)	CAPN9 (A462D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2050937	NM_006615.3(CAPN9):c.1657+2T>G	CAPN9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814177	GRCh37/hg19 1q42.13-42.2(chr1:230616084-231410027)x3	COG2, FAM89A +8 more	Copy number gain	not provided	GUncertain significance
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 686696	GRCh37/hg19 1q42.2(chr1:230921930-231387086)x3	ARV1, C1orf131 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 441681	GRCh37/hg19 1q42.13-42.2(chr1:230619349-231413907)x3	AGT, ARV1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 161003	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 144135	GRCh38/hg38 1q42.2(chr1:230749331-231192557)x1	ARV1, C1orf198 +22 more	Copy number loss	See cases	GUncertain significance
Select item 60111	GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1	AGT, CAPN9 +3 more	Copy number loss	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic

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