ACKR2[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2260704	NM_001296.5(ACKR2):c.166A>G (p.Ile56Val)	ACKR2 (I56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249106	NM_001296.5(ACKR2):c.176T>G (p.Leu59Trp)	ACKR2 (L59W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242567	NM_001296.5(ACKR2):c.506G>C (p.Trp169Ser)	ACKR2 (W169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349158	NM_001296.5(ACKR2):c.515C>G (p.Ser172Cys)	ACKR2 (S172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136819	NM_001296.5(ACKR2):c.574G>A (p.Val192Met)	ACKR2 (V192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235748	NM_001296.5(ACKR2):c.742G>A (p.Ala248Thr)	ACKR2 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348773	NM_001296.5(ACKR2):c.947G>T (p.Ser316Ile)	ACKR2 (S316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348774	NM_001296.5(ACKR2):c.949C>T (p.His317Tyr)	ACKR2 (H317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	ABHD5, ACKR2 +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic