ClinVar for Gene (Select 27132) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269237	NM_153636.3(CPNE7):c.122A>T (p.Lys41Met)	CPNE7 (K41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269235	NM_153636.3(CPNE7):c.884C>T (p.Ser295Phe)	CPNE7 (S370F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269234	NM_153636.3(CPNE7):c.1426G>A (p.Asp476Asn)	CPNE7 (D551N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269233	NM_153636.3(CPNE7):c.508G>A (p.Asp170Asn)	CPNE7 (D170N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269232	NM_153636.3(CPNE7):c.847G>C (p.Val283Leu)	CPNE7 (V283L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269231	NM_153636.3(CPNE7):c.953A>G (p.Asn318Ser)	CPNE7 (N318S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3076805	NM_153636.3(CPNE7):c.739A>G (p.Thr247Ala)	CPNE7 (T247A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076804	NM_153636.3(CPNE7):c.701A>G (p.Asp234Gly)	CPNE7 (D309G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076803	NM_153636.3(CPNE7):c.502G>A (p.Asp168Asn)	CPNE7 (D243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076802	NM_153636.3(CPNE7):c.470T>C (p.Val157Ala)	CPNE7 (V157A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076801	NM_153636.3(CPNE7):c.383G>T (p.Arg128Leu)	CPNE7 (R128L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076800	NM_153636.3(CPNE7):c.358-200C>T	CPNE7 (T184M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076799	NM_153636.3(CPNE7):c.357+1219C>A	CPNE7 (F147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076798	NM_153636.3(CPNE7):c.357+1196G>C	CPNE7 (A140P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076797	NM_153636.3(CPNE7):c.343T>C (p.Cys115Arg)	CPNE7 (C115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076796	NM_153636.3(CPNE7):c.295C>T (p.Pro99Ser)	CPNE7 (P99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076795	NM_153636.3(CPNE7):c.1567G>T (p.Val523Leu)	CPNE7 (V523L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076794	NM_153636.3(CPNE7):c.1499G>C (p.Arg500Pro)	CPNE7 (R500P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076793	NM_153636.3(CPNE7):c.1499G>A (p.Arg500Gln)	CPNE7 (R500Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076792	NM_153636.3(CPNE7):c.1472G>A (p.Arg491His)	CPNE7 (R491H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076791	NM_153636.3(CPNE7):c.1139A>G (p.Asn380Ser)	CPNE7 (N380S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076790	NM_153636.3(CPNE7):c.1039G>A (p.Glu347Lys)	CPNE7 (E422K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076789	NM_153636.3(CPNE7):c.1030T>C (p.Ser344Pro)	CPNE7 (S344P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076788	NM_153636.3(CPNE7):c.962C>T (p.Pro321Leu)	CPNE7 (P396L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063398	GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3	ANKRD11, CDK10 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684824	GRCh37/hg19 16q24.3(chr16:89563707-89772750)x3	CDK10, CHMP1A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2647117	NM_153636.3(CPNE7):c.1077C>T (p.Ser359=)	CPNE7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647116	NM_153636.3(CPNE7):c.965G>A (p.Arg322Gln)	CPNE7 (R322Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647115	NM_153636.3(CPNE7):c.678A>G (p.Leu226=)	CPNE7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622197	NM_153636.3(CPNE7):c.1567G>A (p.Val523Met)	CPNE7 (V523M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618957	NM_153636.3(CPNE7):c.660C>G (p.Cys220Trp)	CPNE7 (C220W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561176	NM_153636.3(CPNE7):c.59G>A (p.Cys20Tyr)	CPNE7 (C20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555433	NM_153636.3(CPNE7):c.559G>A (p.Asp187Asn)	CPNE7 (D187N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550094	NM_153636.3(CPNE7):c.203G>C (p.Ser68Thr)	CPNE7 (S68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544107	NM_153636.3(CPNE7):c.1045T>C (p.Cys349Arg)	CPNE7 (C349R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536405	NM_153636.3(CPNE7):c.439G>A (p.Ala147Thr)	CPNE7 (A222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513199	NM_153636.3(CPNE7):c.1555C>G (p.Leu519Val)	CPNE7 (L519V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507802	NM_153636.3(CPNE7):c.463G>A (p.Gly155Ser)	CPNE7 (G155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489619	NM_153636.3(CPNE7):c.718G>A (p.Asp240Asn)	CPNE7 (D240N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482987	NM_153636.3(CPNE7):c.1178G>A (p.Gly393Asp)	CPNE7 (G393D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467796	NM_153636.3(CPNE7):c.357+1254C>T	CPNE7 (T159M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464138	NM_153636.3(CPNE7):c.824G>A (p.Arg275His)	CPNE7 (R350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425847	NC_000016.9:g.(?_89167090)_(89883023_?)dup	ACSF3, ANKRD11 +15 more	Duplication	KBG syndrome	GUncertain significance
Select item 2425843	NC_000016.9:g.(?_89371594)_(89730828_?)dup	ANKRD11, CHMP1A +6 more	Duplication	KBG syndrome	GUncertain significance
Select item 2424532	NC_000016.9:g.(?_89334886)_(89723996_?)dup	ANKRD11, CHMP1A +5 more	Duplication	not provided	GUncertain significance
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	CDK10, CENPBD1 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422422	NC_000016.9:g.(?_89556653)_(89851392_?)dup	ANKRD11, CDK10 +10 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2403637	NM_153636.3(CPNE7):c.1016T>A (p.Leu339Gln)	CPNE7 (L414Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399738	NM_153636.3(CPNE7):c.358-216G>A	CPNE7 (A179T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396763	NM_153636.3(CPNE7):c.1333G>A (p.Gly445Ser)	CPNE7 (G445S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384384	NM_153636.3(CPNE7):c.1180G>A (p.Val394Met)	CPNE7 (V469M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377221	NM_153636.3(CPNE7):c.358-253G>C	CPNE7 (R166S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366367	NM_153636.3(CPNE7):c.1274C>T (p.Ala425Val)	CPNE7 (A425V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364545	NM_153636.3(CPNE7):c.850G>A (p.Val284Ile)	CPNE7 (V284I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362217	NM_153636.3(CPNE7):c.1384C>T (p.Arg462Cys)	CPNE7 (R462C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348549	NM_153636.3(CPNE7):c.994C>T (p.Pro332Ser)	CPNE7 (P332S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346438	NM_153636.3(CPNE7):c.233C>G (p.Thr78Arg)	CPNE7 (T78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345519	NM_153636.3(CPNE7):c.1213G>A (p.Val405Ile)	CPNE7 (V405I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332929	NM_153636.3(CPNE7):c.1093G>T (p.Ala365Ser)	CPNE7 (A440S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326373	NM_153636.3(CPNE7):c.614C>T (p.Pro205Leu)	CPNE7 (P205L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324251	NM_153636.3(CPNE7):c.1528G>C (p.Glu510Gln)	CPNE7 (E585Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308489	NM_153636.3(CPNE7):c.1642C>T (p.Pro548Ser)	CPNE7 (P548S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307109	NM_153636.3(CPNE7):c.357+1166A>C	CPNE7 (M130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304286	NM_153636.3(CPNE7):c.710G>A (p.Gly237Glu)	CPNE7 (G237E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303155	NM_153636.3(CPNE7):c.1336G>A (p.Val446Met)	CPNE7 (V446M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302728	NM_153636.3(CPNE7):c.1097G>A (p.Arg366Gln)	CPNE7 (R441Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283204	NM_153636.3(CPNE7):c.1414G>A (p.Val472Met)	CPNE7 (V472M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280037	NM_153636.3(CPNE7):c.1637G>A (p.Gly546Asp)	CPNE7 (G621D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267489	NM_153636.3(CPNE7):c.1360C>T (p.Arg454Trp)	CPNE7 (R454W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266916	NM_153636.3(CPNE7):c.283G>A (p.Asp95Asn)	CPNE7 (D95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266050	NM_153636.3(CPNE7):c.1279G>A (p.Glu427Lys)	CPNE7 (E427K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263066	NM_153636.3(CPNE7):c.997T>C (p.Tyr333His)	CPNE7 (Y333H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253272	NM_153636.3(CPNE7):c.1583C>T (p.Pro528Leu)	CPNE7 (P603L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245904	NM_153636.3(CPNE7):c.253G>A (p.Glu85Lys)	CPNE7 (E85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235433	NM_153636.3(CPNE7):c.1009G>A (p.Glu337Lys)	CPNE7 (E337K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223526	NM_153636.3(CPNE7):c.485G>A (p.Arg162Gln)	CPNE7 (R237Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219472	NM_153636.3(CPNE7):c.1465G>A (p.Val489Ile)	CPNE7 (V564I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209864	NM_153636.3(CPNE7):c.357+1139G>A	CPNE7 (A121T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807941	GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526545	GRCh37/hg19 16q24.3(chr16:88985997-89962916)	ACSF3, ANKRD11 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1340329	GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	CDK10, ANKRD11 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 1179109	GRCh37/hg19 16q24.3(chr16:89620873-89881041)	CDK10, CHMP1A +9 more	Copy number loss	Fanconi anemia complementation group A	GPathogenic
Select item 980110	GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3	DEF8, FANCA +21 more	Copy number gain	not provided	GUncertain significance
Select item 979491	GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3	ACSF3, DEF8 +20 more	Copy number gain	not provided	GUncertain significance
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 974363	NC_000016.9:g.89645037_89810099del	CDK10, CHMP1A +7 more	Deletion	Fanconi anemia complementation group A	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 689215	GRCh37/hg19 16q24.3(chr16:89662327-89927634)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	GUncertain significance
Select item 688149	GRCh37/hg19 16q24.3(chr16:89416511-89679394)x3	ANKRD11, CPNE7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685139	GRCh37/hg19 16q24.3(chr16:89443552-89726484)x3	ANKRD11, CHMP1A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564369	GRCh37/hg19 16q24.3(chr16:88983242-89648778)x3	ACSF3, ANKRD11 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic

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