CNPY2[gene] - ClinVar - NCBI

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Items: 16

	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 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 3146654	NM_014255.7(CNPY2):c.529A>G (p.Ile177Val)	CNPY2 (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588399	NM_014255.7(CNPY2):c.520G>A (p.Ala174Thr)	CNPY2 (A174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401707	NM_014255.7(CNPY2):c.473A>G (p.Asn158Ser)	CNPY2 (N158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643090	NM_014255.7(CNPY2):c.375C>T (p.Ile125=)	CNPY2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146652	NM_014255.7(CNPY2):c.320G>A (p.Arg107His)	CNPY2 (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328114	NM_014255.7(CNPY2):c.194C>T (p.Ser65Leu)	CNPY2 (S65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268244	NM_014255.7(CNPY2):c.152T>C (p.Ile51Thr)	CNPY2 (I51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146653	NM_014255.7(CNPY2):c.50C>G (p.Thr17Ser)	CNPY2 (T17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679340	NM_014255.7(CNPY2):c.46_50del (p.Gly16fs)	CNPY2 (G16fs)	Deletion (frameshift variant)	Abnormality of the face +1 more	GLikely pathogenic
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic