ClinVar (all) for Orgtrack (Select 507027) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188826	NM_004560.4(ROR2):c.1353_1360del (p.Met452fs)	ROR2 (M452fs)	Deletion (3 prime UTR variant +1 more)	Autosomal recessive Robinow syndrome	GPathogenic
Select item 989436	NM_000169.3(GLA):c.473C>T (p.Thr158Ile)	GLA, RPL36A-HNRNPH2 (T158I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 989435	NM_020401.4(NUP107):c.1781G>A (p.Cys594Tyr)	NUP107 (C565Y +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 1	GUncertain significance
Select item 988900	NM_024876.4(COQ8B):c.748G>A (p.Asp250Asn)	COQ8B (D209N +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 987926	NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly)	OTOG (V1813G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B	GLikely pathogenic
Select item 987925	NM_000441.2(SLC26A4):c.1668T>A (p.Tyr556Ter)	SLC26A4 (Y556*)	Single nucleotide variant (nonsense)	SLC26A4-related disorder	GLikely pathogenic
Select item 21831	NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)	OTOF (R708*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database

ClinVar