ACKR3[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136757	NM_020311.3(ACKR3):c.313G>A (p.Val105Met)	ACKR3 (V105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592579	NM_020311.3(ACKR3):c.347C>T (p.Thr116Met)	ACKR3 (T116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136762	NM_020311.3(ACKR3):c.377T>A (p.Ile126Asn)	ACKR3 (I126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136765	NM_020311.3(ACKR3):c.409T>G (p.Cys137Gly)	ACKR3 (C137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377097	NM_020311.3(ACKR3):c.484C>T (p.Arg162Cys)	ACKR3 (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261782	NM_020311.3(ACKR3):c.490G>A (p.Val164Ile)	ACKR3 (V164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483544	NM_020311.3(ACKR3):c.575A>G (p.Asn192Ser)	ACKR3 (N192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717502	NM_020311.3(ACKR3):c.603C>T (p.Pro201=)	ACKR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710902	NM_020311.3(ACKR3):c.630C>T (p.Ile210=)	ACKR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3136774	NM_020311.3(ACKR3):c.632G>T (p.Gly211Val)	ACKR3 (G211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320888	NM_020311.3(ACKR3):c.679A>G (p.Ile227Val)	ACKR3 (I227V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136784	NM_020311.3(ACKR3):c.686C>G (p.Ala229Gly)	ACKR3 (A229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770516	NM_020311.3(ACKR3):c.688G>A (p.Val230Ile)	ACKR3 (V230I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2479647	NM_020311.3(ACKR3):c.699C>G (p.Phe233Leu)	ACKR3 (F233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511592	NM_020311.3(ACKR3):c.722C>T (p.Ala241Val)	ACKR3 (A241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585134	NM_020311.3(ACKR3):c.772G>A (p.Val258Met)	ACKR3 (V258M)	Single nucleotide variant (missense variant)	Oculomotor-abducens synkinesis	GPathogenic
Select item 3136788	NM_020311.3(ACKR3):c.862C>T (p.Arg288Trp)	ACKR3 (R288W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238956	NM_020311.3(ACKR3):c.886G>A (p.Ala296Thr)	ACKR3 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589084	NM_020311.3(ACKR3):c.920A>C (p.His307Pro)	ACKR3 (H307P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289435	NM_020311.3(ACKR3):c.955A>C (p.Asn319His)	ACKR3 (N319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136802	NM_020311.3(ACKR3):c.991A>G (p.Ile331Val)	ACKR3 (I331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929742	NM_020311.3(ACKR3):c.1003T>G (p.Ser335Ala)	ACKR3 (S335A)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance

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Items: 22