LOC130008908[gene] - ClinVar

	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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 2284549	NM_006253.5(PRKAB1):c.117C>G (p.Asp39Glu)	LOC130008908, PRKAB1 (D39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238280	NM_006253.5(PRKAB1):c.136C>T (p.Leu46Phe)	LOC130008908, PRKAB1 (L46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar