ClinVar for Gene (Select 2532) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136740	NM_002036.4(ACKR1):c.835C>G (p.Gln279Glu)	ACKR1 (Q279E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136702	NM_002036.4(ACKR1):c.314G>A (p.Gly105Asp)	ACKR1 (G105D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057672	NM_002036.4(ACKR1):c.-74G>A	ACKR1	Single nucleotide variant (5 prime UTR variant)	ACKR1-related condition	GLikely benign
Select item 3056036	NM_002036.4(ACKR1):c.298G>A (p.Ala100Thr)	ACKR1 (A100T +1 more)	Single nucleotide variant (missense variant)	ACKR1-related condition	GBenign
Select item 3040382	NM_002036.4(ACKR1):c.603G>A (p.Thr201=)	ACKR1	Single nucleotide variant (synonymous variant)	ACKR1-related condition	GLikely benign
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2606802	NM_002036.4(ACKR1):c.245T>G (p.Met82Arg)	ACKR1 (M82R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588926	NM_002036.4(ACKR1):c.264C>A (p.Phe88Leu)	ACKR1 (F88L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531936	NM_002036.4(ACKR1):c.281C>G (p.Pro94Arg)	ACKR1 (P94R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408270	NM_002036.4(ACKR1):c.655G>A (p.Val219Ile)	ACKR1 (V221I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404106	NM_002036.4(ACKR1):c.482A>G (p.Gln161Arg)	ACKR1 (Q161R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398571	NM_002036.4(ACKR1):c.67G>A (p.Glu23Lys)	ACKR1 (E23K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353656	NM_002036.4(ACKR1):c.729G>A (p.Met243Ile)	ACKR1 (M245I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318365	NM_002036.4(ACKR1):c.41C>T (p.Thr14Ile)	ACKR1 (T14I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274246	NM_002036.4(ACKR1):c.371G>A (p.Arg124His)	ACKR1 (R124H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228532	NM_002036.4(ACKR1):c.958C>T (p.Pro320Ser)	ACKR1 (P320S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215718	NM_002036.4(ACKR1):c.146C>T (p.Ala49Val)	ACKR1 (A49V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1340287	GRCh37/hg19 1q23.1-23.2(chr1:158822741-159244974)x3	ACKR1, AIM2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1185002	NM_002036.4(ACKR1):c.199C>T (p.Leu67Phe)	ACKR1 (L67F +1 more)	Single nucleotide variant (missense variant)	Duffy Blood group system	GAffects
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 777331	NM_002036.4(ACKR1):c.714G>A (p.Gly238=)	ACKR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441719	GRCh37/hg19 1q23.1-23.2(chr1:158685035-159301350)x3	ACKR1, AIM2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 18397	NM_002036.4(ACKR1):c.286_299del (p.Trp96fs)	ACKR1 (W96fs +1 more)	Deletion (frameshift variant)	DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE	GPathogenic
Select item 18396	NM_002036.4(ACKR1):c.265C>T (p.Arg89Cys)	ACKR1 (R89C +1 more)	Single nucleotide variant (missense variant)	DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE	GPathogenic
Select item 18395	NM_002036.3(ACKR1):c.-67T>C	ACKR1	Single nucleotide variant (5 prime UTR variant)	Resistance to Plasmodium vivax infection +2 more	GPathogenic; association; protective
Select item 17728	NM_002036.4(ACKR1):c.125G>A (p.Gly42Asp)	ACKR1 (G42D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

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Links from Gene

Items: 32