2243[HGNC] - 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 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 3076292	NM_016057.3(COPZ1):c.35C>T (p.Thr12Ile)	COPZ1 (T12I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076296	NM_016057.3(COPZ1):c.96C>T (p.Asp32=)	COPZ1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3268976	NM_016057.3(COPZ1):c.173A>T (p.Glu58Val)	COPZ1 (E58V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076291	NM_016057.3(COPZ1):c.280C>A (p.Leu94Met)	COPZ1 (L94M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623062	NM_016057.3(COPZ1):c.325G>A (p.Val109Ile)	COPZ1 (V109I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076293	NM_016057.3(COPZ1):c.412G>C (p.Asp138His)	COPZ1 (D138H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076294	NM_016057.3(COPZ1):c.433C>T (p.Arg145Trp)	COPZ1 (R122W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556929	NM_016057.3(COPZ1):c.434G>A (p.Arg145Gln)	COPZ1 (R145Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746724	NM_016057.3(COPZ1):c.477C>A (p.Thr159=)	COPZ1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2684674	GRCh37/hg19 12q13.13(chr12:54429002-54898430)x3	CBX5, COPZ1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	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