ClinVar (all) for Orgtrack (Select 505789) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687119	NM_000291.4(PGK1):c.150C>G (p.Cys50Trp)	PGK1 (C50W)	Single nucleotide variant (missense variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	GLikely pathogenic
Select item 997968	NM_025074.7(FRAS1):c.4465del (p.Leu1489fs)	FRAS1 (L1489fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 424841	NM_000051.3(ATM):c.[1236-2A>T];[497-1G>A]			Ataxia-telangiectasia syndrome	GUncertain significance
Select item 375472	NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)	INPP5E (R435W +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GPathogenic
Select item 375244	NM_000543.5(SMPD1):c.1341-10_1429dup	SMPD1	Duplication (splice acceptor variant)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 375242	NM_000051.4(ATM):c.1192del (p.Asp398fs)	ATM (D398fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic

ClinVar