"Ambry Genetics"[submitter] AND "SPATA12"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2471214	NM_181727.2(SPATA12):c.316T>A (p.Ser106Thr)	ARHGEF3, SPATA12 (S106T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374891	NM_181727.2(SPATA12):c.412G>A (p.Glu138Lys)	ARHGEF3, SPATA12 (E138K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276860	NM_181727.2(SPATA12):c.440T>C (p.Leu147Pro)	ARHGEF3, SPATA12 (L147P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477218	NM_181727.2(SPATA12):c.473C>T (p.Thr158Ile)	ARHGEF3, SPATA12 (T158I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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