OR2A4[gene] - ClinVar

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 1699970	NC_000006.12:g.131688637_132215008del	CCN2, CCN2-AS1 +14 more	Deletion	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 2387109	NM_030908.2(OR2A4):c.803A>G (p.Glu268Gly)	OR2A4, ENPP3 (E268G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344609	NM_030908.2(OR2A4):c.748G>T (p.Val250Phe)	ENPP3, OR2A4 (V250F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274853	NM_030908.2(OR2A4):c.705A>T (p.Lys235Asn)	ENPP3, OR2A4 (K235N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2566823	NM_030908.2(OR2A4):c.583G>A (p.Glu195Lys)	ENPP3, OR2A4 (E195K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296451	NM_030908.2(OR2A4):c.553A>G (p.Lys185Glu)	OR2A4, ENPP3 (K185E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495459	NM_030908.2(OR2A4):c.274T>A (p.Ser92Thr)	ENPP3, OR2A4 (S92T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282580	NM_030908.2(OR2A4):c.254T>G (p.Leu85Arg)	ENPP3, OR2A4 (L85R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283357	NM_030908.2(OR2A4):c.163C>T (p.His55Tyr)	ENPP3, OR2A4 (H55Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364576	NM_030908.2(OR2A4):c.17C>T (p.Thr6Ile)	ENPP3, OR2A4 (T6I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062941	GRCh37/hg19 6q23.1-23.2(chr6:130983223-132108647)x3	AKAP7, ARG1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2684455	GRCh37/hg19 6q23.2(chr6:131624205-132219490)x3	ARG1, CTAGE9 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527291	GRCh37/hg19 6q23.2(chr6:131624204-132219490)	ARG1, CTAGE9 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1341089	GRCh37/hg19 6q23.2(chr6:131958038-132444269)x3	CCN2, CTAGE9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 998813	NC_000006.11:g.(?_131894423)_(132211651_?)dup	OR2A4, ARG1 +4 more	Duplication	Arginase deficiency	GUncertain significance
Select item 687760	GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1	ENPP1, ENPP3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 687376	GRCh37/hg19 6q23.2(chr6:131958069-132444234)x3	CCN2, CTAGE9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 503591	GRCh37/hg19 6q23.2(chr6:131703293-132212694)x3	ARG1, CTAGE9 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442296	GRCh37/hg19 6q23.2(chr6:131605284-132219490)x1	ARG1, CTAGE9 +4 more	Copy number loss	See cases	GLikely benign

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: 34