24729[HGNC] - ClinVar - NCBI

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Items: 15

	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 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2245305	NM_198521.5(C12orf42):c.587C>A (p.Thr196Lys)	C12orf42 (T157K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135666	NM_198521.5(C12orf42):c.106A>C (p.Ser36Arg)	C12orf42 (S36R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2212785	NM_198521.5(C12orf42):c.101T>A (p.Ile34Asn)	C12orf42 (I34N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 149859	GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1	C12orf42, CHST11 +115 more	Copy number loss	See cases	GUncertain significance
Select item 1808032	GRCh37/hg19 12q23.2-23.3(chr12:103588380-105161579)x3	C12orf42, CHST11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 688485	GRCh37/hg19 12q23.2(chr12:103318822-103751173)x3	ASCL1, C12orf42	Copy number gain	not provided	GUncertain significance
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 563898	GRCh37/hg19 12q23.3(chr12:103838195-103915092)x1	C12orf42	Copy number loss	not provided	GUncertain significance
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