8051[HGNC] - ClinVar - NCBI

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Items: 11

	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 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 145323	GRCh38/hg38 12q22(chr12:93374113-94267175)x3	CEP83, CRADD +49 more	Copy number gain	See cases	GUncertain significance
Select item 3202816	NM_019094.6(NUDT4):c.181G>A (p.Gly61Ser)	NUDT4 (G61S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362336	NM_019094.6(NUDT4):c.190G>A (p.Val64Met)	NUDT4 (V12M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301401	NM_019094.6(NUDT4):c.331G>T (p.Val111Phe)	NUDT4 (V112F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	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