2532[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +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 3057672	NM_002036.4(ACKR1):c.-74G>A	ACKR1	Single nucleotide variant (5 prime UTR variant)	ACKR1-related disorder	GLikely benign
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 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 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 17728	NM_002036.4(ACKR1):c.125G>A (p.Gly42Asp)	ACKR1 (G42D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 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 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 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 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 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 3056036	NM_002036.4(ACKR1):c.298G>A (p.Ala100Thr)	ACKR1 (A100T +1 more)	Single nucleotide variant (missense variant)	ACKR1-related disorder	GBenign
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 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 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 3040382	NM_002036.4(ACKR1):c.603G>A (p.Thr201=)	ACKR1	Single nucleotide variant (synonymous variant)	ACKR1-related disorder	GLikely benign
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 777331	NM_002036.4(ACKR1):c.714G>A (p.Gly238=)	ACKR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32