"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931703	NM_004667.6(HERC2):c.11701-1G>A	HERC2	Single nucleotide variant (splice acceptor variant)	Prader-Willi syndrome	GPathogenic
Select item 931262	NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe)	HERC2 (S3475F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930652	NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)	HERC2 (I2866M)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 930448	NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)	HERC2 (A2671G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 374155	NM_004667.6(HERC2):c.6976del (p.Ile2325_Leu2326insTer)	HERC2	Deletion (nonsense)	Optic nerve hypoplasia +7 more	GPathogenic
Select item 931263	NM_004667.6(HERC2):c.5351G>A (p.Arg1784His)	HERC2 (R1784H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 523251	GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)	NPAP1, OCA2 +22 more	Copy number gain	Autism +7 more	GPathogenic

ClinVar