CPNE8[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2489622	NM_153634.3(CPNE8):c.1437G>A (p.Met479Ile)	CPNE8 (M479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286012	NM_153634.3(CPNE8):c.995T>A (p.Met332Lys)	CPNE8 (M332K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269239	NM_153634.3(CPNE8):c.940A>G (p.Ile314Val)	CPNE8 (I314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269242	NM_153634.3(CPNE8):c.641A>G (p.Lys214Arg)	CPNE8 (K214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285814	NM_153634.3(CPNE8):c.614C>T (p.Thr205Ile)	CPNE8 (T205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612414	NM_153634.3(CPNE8):c.605T>A (p.Val202Asp)	CPNE8 (V202D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269243	NM_153634.3(CPNE8):c.587G>T (p.Cys196Phe)	CPNE8 (C196F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378482	NM_153634.3(CPNE8):c.583A>G (p.Ile195Val)	CPNE8 (I195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269240	NM_153634.3(CPNE8):c.554A>G (p.Tyr185Cys)	CPNE8 (Y185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269238	NM_153634.3(CPNE8):c.502A>G (p.Lys168Glu)	CPNE8 (K168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269241	NM_153634.3(CPNE8):c.311G>A (p.Ser104Asn)	CPNE8 (S104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521288	NM_153634.3(CPNE8):c.262G>A (p.Glu88Lys)	CPNE8 (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642846	NM_153634.3(CPNE8):c.187-9_187-6del	CPNE8	Deletion (intron variant)	not provided	GLikely benign
Select item 2529419	NM_153634.3(CPNE8):c.161G>C (p.Gly54Ala)	CPNE8 (G54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076806	NM_153634.3(CPNE8):c.79G>A (p.Glu27Lys)	CPNE8 (E27K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548521	NM_153634.3(CPNE8):c.11G>A (p.Arg4His)	CPNE8 (R4H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979960	GRCh37/hg19 12q12(chr12:39078754-40577696)x4	CPNE8, C12orf40 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563977	GRCh37/hg19 12q12(chr12:38207168-40145174)x1	C12orf40, ABCD2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441613	GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3	ALG10B, CNTN1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 29