"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "AFG2B"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185568	NM_024063.3(AFG2B):c.213T>G (p.Phe71Leu)	AFG2B (F71L)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity +1 more	GUncertain significance
Select item 2582932	NM_024063.3(AFG2B):c.310T>C (p.Cys104Arg)	AFG2B (C104R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2645306	NM_024063.3(AFG2B):c.675C>T (p.Ala225=)	AFG2B, LOC130056998	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1711381	NM_024063.3(AFG2B):c.821G>T (p.Arg274Leu)	AFG2B (R274L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 976742	NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)	AFG2B (T400I)	Single nucleotide variant (missense variant +1 more)	SPATA5L1-associated disorder +2 more	GPathogenic/Likely pathogenic
Select item 1701257	NM_024063.3(AFG2B):c.1218C>T (p.Ala406=)	AFG2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025482	NM_024063.3(AFG2B):c.1721C>T (p.Ser574Leu)	AFG2B (S574L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2645307	NM_024063.3(AFG2B):c.2184G>A (p.Pro728=)	AFG2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign