LOC126861540[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	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 3150511	NM_001394031.1(R3HDM2):c.1301C>T (p.Thr434Met)	LOC126861540, R3HDM2 (T434M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150510	NM_001394031.1(R3HDM2):c.1282C>T (p.Leu428Phe)	LOC126861540, R3HDM2 (L414F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324388	NM_001394031.1(R3HDM2):c.1228C>T (p.Arg410Trp)	LOC126861540, R3HDM2 (R396W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar