OR2A4[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +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 3205009	NM_030908.2(OR2A4):c.899T>C (p.Leu300Ser)	ENPP3, OR2A4 (L300S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387109	NM_030908.2(OR2A4):c.803A>G (p.Glu268Gly)	ENPP3, OR2A4 (E268G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344609	NM_030908.2(OR2A4):c.748G>T (p.Val250Phe)	ENPP3, OR2A4 (V250F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274853	NM_030908.2(OR2A4):c.705A>T (p.Lys235Asn)	ENPP3, OR2A4 (K235N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566823	NM_030908.2(OR2A4):c.583G>A (p.Glu195Lys)	ENPP3, OR2A4 (E195K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296451	NM_030908.2(OR2A4):c.553A>G (p.Lys185Glu)	ENPP3, OR2A4 (K185E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205007	NM_030908.2(OR2A4):c.541T>G (p.Leu181Val)	ENPP3, OR2A4 (L181V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205005	NM_030908.2(OR2A4):c.281C>T (p.Ala94Val)	OR2A4, ENPP3 (A94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495459	NM_030908.2(OR2A4):c.274T>A (p.Ser92Thr)	ENPP3, OR2A4 (S92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282580	NM_030908.2(OR2A4):c.254T>G (p.Leu85Arg)	ENPP3, OR2A4 (L85R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283357	NM_030908.2(OR2A4):c.163C>T (p.His55Tyr)	ENPP3, OR2A4 (H55Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205008	NM_030908.2(OR2A4):c.86T>C (p.Leu29Pro)	ENPP3, OR2A4 (L29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205006	NM_030908.2(OR2A4):c.52G>A (p.Val18Ile)	ENPP3, OR2A4 (V18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364576	NM_030908.2(OR2A4):c.17C>T (p.Thr6Ile)	ENPP3, OR2A4 (T6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	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	ARG1, CTAGE9 +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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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

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Items: 41