ClinVar (all) for Orgtrack (Select 507298) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575892	NM_021076.4(NEFH):c.2752del (p.Glu918fs)	NEFH (E918fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2CC	GLikely pathogenic
Select item 2575891	NM_001257180.2(SLC20A2):c.58_62del (p.Ala21fs)	SLC20A2 (A21fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 2575890	NM_020745.4(AARS2):c.804G>A (p.Met268Ile)	AARS2 (M268I)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 2575889	NM_020745.4(AARS2):c.2255+5G>A	AARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 2575888	NM_001288705.3(CSF1R):c.2471C>T (p.Pro824Leu)	CSF1R (P676L +1 more)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1	GPathogenic
Select item 2573228	NM_182961.4(SYNE1):c.16804del (p.Met5602fs)	LOC126859837, SYNE1 (M5531fs +1 more)	Deletion (frameshift variant)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 972726	NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp)	HSPG2 (C375W)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome	GLikely pathogenic

ClinVar