CPNE5[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2479805	NM_020939.2(CPNE5):c.1760C>A (p.Ser587Tyr)	CPNE5 (S587Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 786086	NM_020939.2(CPNE5):c.1758G>T (p.Ala586=)	CPNE5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3076773	NM_020939.2(CPNE5):c.1748C>T (p.Thr583Met)	CPNE5 (T233M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374189	NM_020939.2(CPNE5):c.1744C>T (p.Arg582Cys)	CPNE5 (R232C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256124	NM_020939.2(CPNE5):c.1730C>T (p.Ser577Leu)	CPNE5 (S285L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337864	NM_020939.2(CPNE5):c.1726C>T (p.Pro576Ser)	CPNE5 (P226S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222987	NM_020939.2(CPNE5):c.1697G>A (p.Arg566His)	CPNE5 (R216H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610710	NM_020939.2(CPNE5):c.1544C>A (p.Ala515Asp)	CPNE5 (A165D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599235	NM_020939.2(CPNE5):c.1513G>A (p.Asp505Asn)	CPNE5 (D522N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292934	NM_020939.2(CPNE5):c.1488C>A (p.Asp496Glu)	CPNE5 (D204E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269222	NM_020939.2(CPNE5):c.1397C>T (p.Ser466Leu)	CPNE5, LOC129389508 (S174L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791398	NM_020939.2(CPNE5):c.1332T>G (p.Asn444Lys)	CPNE5 (N461K +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2309246	NM_020939.2(CPNE5):c.1298A>G (p.Asn433Ser)	CPNE5 (N433S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076772	NM_020939.2(CPNE5):c.1271G>A (p.Arg424His)	CPNE5 (R424H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458169	NM_020939.2(CPNE5):c.1270C>T (p.Arg424Cys)	CPNE5 (R74C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510085	NM_020939.2(CPNE5):c.1261C>T (p.Arg421Cys)	CPNE5 (R421C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773196	NM_020939.2(CPNE5):c.1201-9G>A	CPNE5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2381472	NM_020939.2(CPNE5):c.983A>G (p.Asn328Ser)	CPNE5 (N36S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312025	NM_020939.2(CPNE5):c.883A>G (p.Lys295Glu)	CPNE5, LOC126859664 (K3E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407958	NM_020939.2(CPNE5):c.827G>A (p.Arg276His)	CPNE5 (R293H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2510886	NM_020939.2(CPNE5):c.740C>A (p.Thr247Asn)	CPNE5 (T264N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3076777	NM_020939.2(CPNE5):c.733G>A (p.Asp245Asn)	CPNE5 (D245N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269224	NM_020939.2(CPNE5):c.727G>A (p.Asp243Asn)	CPNE5 (D243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773197	NM_020939.2(CPNE5):c.708G>A (p.Val236=)	CPNE5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2614584	NM_020939.2(CPNE5):c.593A>G (p.Asp198Gly)	CPNE5 (D215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271527	NM_020939.2(CPNE5):c.553G>A (p.Ala185Thr)	CPNE5 (A185T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269223	NM_020939.2(CPNE5):c.538A>G (p.Thr180Ala)	CPNE5 (T197A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768084	NM_020939.2(CPNE5):c.510G>A (p.Glu170=)	CPNE5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260222	NM_020939.2(CPNE5):c.446T>C (p.Met149Thr)	CPNE5 (M149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791265	NM_020939.2(CPNE5):c.405-13TC[3]	CPNE5	Microsatellite (intron variant)	not provided	GBenign
Select item 3076776	NM_020939.2(CPNE5):c.385C>T (p.Arg129Cys)	CPNE5 (R129C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076775	NM_020939.2(CPNE5):c.382A>T (p.Ser128Cys)	CPNE5 (S128C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269226	NM_020939.2(CPNE5):c.364A>G (p.Ile122Val)	CPNE5 (I122V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720946	NM_020939.2(CPNE5):c.288-8C>T	CPNE5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3076774	NM_020939.2(CPNE5):c.277C>T (p.Arg93Cys)	CPNE5 (R93C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591124	NM_020939.2(CPNE5):c.242T>G (p.Ile81Ser)	CPNE5 (I81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340222	NM_020939.2(CPNE5):c.229G>A (p.Val77Met)	CPNE5 (V77M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155452	GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1	C6orf89, CPNE5 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 3269225	NM_020939.2(CPNE5):c.91T>C (p.Cys31Arg)	CPNE5 (C31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 687456	GRCh37/hg19 6p21.2(chr6:36776798-37106051)x3	C6orf89, CPNE5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 50