CPNE9[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
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 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	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 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 150505	GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3	ARPC4, ARPC4-TTLL3 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57199	GRCh38/hg38 3p25.3(chr3:9221810-9727021)x3	CPNE9, LHFPL4 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 2240566	NM_153635.3(CPNE9):c.4T>C (p.Ser2Pro)	CPNE9 (S2P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076809	NM_153635.3(CPNE9):c.25C>G (p.Arg9Gly)	CPNE9 (R9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317344	NM_153635.3(CPNE9):c.26G>A (p.Arg9His)	CPNE9 (R9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076810	NM_153635.3(CPNE9):c.35C>G (p.Pro12Arg)	CPNE9 (P12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076813	NM_153635.3(CPNE9):c.89C>T (p.Thr30Ile)	CPNE9 (T30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336091	NM_153635.3(CPNE9):c.99G>C (p.Lys33Asn)	CPNE9 (K33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368870	NM_153635.3(CPNE9):c.338T>G (p.Val113Gly)	CPNE9 (V113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472475	NM_153635.3(CPNE9):c.380G>C (p.Gly127Ala)	CPNE9 (G127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384488	NM_153635.3(CPNE9):c.463T>C (p.Cys155Arg)	CPNE9 (C155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280907	NM_153635.3(CPNE9):c.489C>A (p.Asp163Glu)	CPNE9 (D163E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076811	NM_153635.3(CPNE9):c.574G>A (p.Val192Met)	CPNE9 (V192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307059	NM_153635.3(CPNE9):c.653C>T (p.Thr218Met)	CPNE9 (T218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367623	NM_153635.3(CPNE9):c.772C>G (p.Leu258Val)	CPNE9 (L258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076812	NM_153635.3(CPNE9):c.832C>G (p.Leu278Val)	CPNE9 (L278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364657	NM_153635.3(CPNE9):c.1039G>A (p.Asp347Asn)	CPNE9 (D347N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476138	NM_153635.3(CPNE9):c.1184G>A (p.Arg395His)	CPNE9 (R395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545446	NM_153635.3(CPNE9):c.1313A>C (p.Asp438Ala)	CPNE9 (D438A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380796	NM_153635.3(CPNE9):c.1433G>A (p.Arg478His)	CPNE9 (R478H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493905	NM_153635.3(CPNE9):c.1435G>T (p.Val479Leu)	CPNE9 (V479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076807	NM_153635.3(CPNE9):c.1450C>T (p.Arg484Cys)	CPNE9 (R484C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269244	NM_153635.3(CPNE9):c.1453T>A (p.Tyr485Asn)	CPNE9 (Y485N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227902	NM_153635.3(CPNE9):c.1471G>A (p.Val491Ile)	CPNE9 (V491I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076808	NM_153635.3(CPNE9):c.1535G>A (p.Arg512Gln)	CPNE9 (R512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463675	NM_153635.3(CPNE9):c.1565C>T (p.Pro522Leu)	CPNE9 (P522L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613066	NM_153635.3(CPNE9):c.1613C>T (p.Pro538Leu)	CPNE9 (P538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269245	NM_153635.3(CPNE9):c.1630C>G (p.Pro544Ala)	CPNE9 (P544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403839	NM_153635.3(CPNE9):c.1651G>C (p.Glu551Gln)	CPNE9 (E551Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536322	NM_153635.3(CPNE9):c.1654C>A (p.Gln552Lys)	CPNE9 (Q552K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
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 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
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 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	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 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	ARPC4, ARPC4-TTLL3 +20 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1328451	GRCh37/hg19 3p25.3(chr3:9501646-9991928)x4	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 830761	NC_000003.12:g.(?_9701780)_(9944589_?)dup	ARPC4, ARPC4-TTLL3 +13 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 688108	GRCh37/hg19 3p25.3(chr3:8883205-9954034)x3	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 635955	Single allele	BRPF1, IL17RE +33 more	Duplication	Neurodevelopmental disorder	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 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 443508	GRCh37/hg19 3p25.3(chr3:9600759-10000398)x3	ARPC4, ARPC4-TTLL3 +14 more	Copy number gain	See cases	GLikely benign
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 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	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
Select item 395270	GRCh37/hg19 3p25.3(chr3:9666380-10028247)x1	ARPC4, ARPC4-TTLL3 +15 more	Copy number loss	See cases	GPathogenic
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic
Select item 253334	GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3	MTMR14, IL17RC +21 more	Copy number gain	See cases	GLikely pathogenic

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Items: 90