Related gene-specific medical variations for Gene (Select 50650) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3168176	NM_181727.2(SPATA12):c.89T>A (p.Val30Asp)	ARHGEF3, SPATA12 (V30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168175	NM_181727.2(SPATA12):c.490A>G (p.Asn164Asp)	ARHGEF3, SPATA12 (N164D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3168174	NM_181727.2(SPATA12):c.437G>A (p.Arg146Lys)	ARHGEF3, SPATA12 (R146K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168171	NM_181727.2(SPATA12):c.187G>A (p.Ala63Thr)	SPATA12, ARHGEF3 (A63T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653909	NM_181727.2(SPATA12):c.36A>G (p.Leu12=)	ARHGEF3, SPATA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2477218	NM_181727.2(SPATA12):c.473C>T (p.Thr158Ile)	ARHGEF3, SPATA12 (T158I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471214	NM_181727.2(SPATA12):c.316T>A (p.Ser106Thr)	ARHGEF3, SPATA12 (S106T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374891	NM_181727.2(SPATA12):c.412G>A (p.Glu138Lys)	ARHGEF3, SPATA12 (E138K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276860	NM_181727.2(SPATA12):c.440T>C (p.Leu147Pro)	ARHGEF3, SPATA12 (L147P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253070	NM_001128615.2(ARHGEF3):c.70C>T (p.Arg24Trp)	ARHGEF3, ARHGEF3-AS1 (R24W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance