9283[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 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 98427	NM_002710.4(PPP1CC):c.*891G>A	PPP1CC	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 2220623	NM_002710.4(PPP1CC):c.920C>T (p.Thr307Met)	PPP1CC (T307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292898	NM_002710.4(PPP1CC):c.554A>T (p.Gln185Leu)	PPP1CC (Q185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478207	NM_002710.4(PPP1CC):c.140T>G (p.Leu47Arg)	PPP1CC (L47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98428	NM_002710.4(PPP1CC):c.76A>G (p.Lys26Glu)	PPP1CC (K26E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3217393	NM_002710.4(PPP1CC):c.19C>T (p.Leu7Phe)	PPP1CC (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98429	NM_002710.4(PPP1CC):c.6G>T (p.Ala2=)	PPP1CC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
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 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 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