26456[HGNC] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
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 2643224	NM_001306084.2(CFAP54):c.66A>G (p.Pro22=)	CFAP54, LOC113939937	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672515	NM_001306084.2(CFAP54):c.4302G>C (p.Met1434Ile)	CFAP54 (M1434I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672516	NM_001306084.2(CFAP54):c.4539G>C (p.Met1513Ile)	CFAP54 (M1513I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221492	GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3	NEDD1, RMST +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance