"Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU Münc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976779	NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	AFG2B (G176V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 976741	NM_024063.3(AFG2B):c.1090-2A>G	AFG2B	Single nucleotide variant (splice acceptor variant)	SPATA5L1-associated disorder	GPathogenic
Select item 976742	NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)	AFG2B (T400I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 976743	NM_024063.3(AFG2B):c.1556C>A (p.Ala519Asp)	AFG2B (A519D)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity +1 more	GConflicting classifications of pathogenicity
Select item 976744	NM_024063.3(AFG2B):c.1973G>A (p.Arg658Lys)	AFG2B (R658K)	Single nucleotide variant (missense variant +1 more)	SPATA5L1-associated disorder	GLikely pathogenic
Select item 976745	NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg)	AFG2B (M669R)	Single nucleotide variant (missense variant +1 more)	SPATA5L1-associated disorder	GLikely pathogenic
Select item 976746	NM_024063.3(AFG2B):c.2176_2177del (p.Val726fs)	AFG2B (V726fs)	Deletion (frameshift variant +1 more)	SPATA5L1-associated disorder	GPathogenic

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