AKIRIN1[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107032	NM_024595.3(AKIRIN1):c.268T>A (p.Trp90Arg)	AKIRIN1 (W90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282436	NM_024595.3(AKIRIN1):c.296A>G (p.Gln99Arg)	AKIRIN1 (Q99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372814	NM_024595.3(AKIRIN1):c.328C>T (p.His110Tyr)	AKIRIN1 (H110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251683	NM_024595.3(AKIRIN1):c.328C>G (p.His110Asp)	AKIRIN1 (H110D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603370	NM_024595.3(AKIRIN1):c.458G>A (p.Arg153Gln)	AKIRIN1 (R153Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055615	NM_024595.3(AKIRIN1):c.496+8C>G	AKIRIN1	Single nucleotide variant (intron variant)	AKIRIN1-related disorder	GBenign
Select item 2279192	NM_024595.3(AKIRIN1):c.537T>G (p.Ile179Met)	AKIRIN1 (I179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043682	NM_024595.3(AKIRIN1):c.568+10G>A	AKIRIN1	Single nucleotide variant (intron variant)	AKIRIN1-related disorder	GLikely benign

ClinVar