OR2J2[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 149276	GRCh38/hg38 6p22.1(chr6:28954915-29358240)x1	HCG15, LINC03003 +17 more	Copy number loss	See cases	GLikely benign
Select item 150190	GRCh38/hg38 6p22.1(chr6:28954920-29358310)x3	HCG15, LINC03003 +17 more	Copy number gain	See cases	GLikely benign
Select item 157003	NM_030905.2(OR2J2):c.-46717_20023del	LOC126859636, OR2J2	Deletion	Large for gestational age	Gnot provided
Select item 152414	GRCh38/hg38 6p22.1(chr6:29134533-29184989)x3	LOC126859636, OR2J2	Copy number gain	See cases	GBenign
Select item 3302701	NM_030905.3(OR2J2):c.17A>G (p.Asn6Ser)	OR2J2 (N6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278181	NM_030905.3(OR2J2):c.44T>C (p.Leu15Pro)	OR2J2 (L15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592884	NM_030905.3(OR2J2):c.47T>C (p.Leu16Pro)	OR2J2 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205152	NM_030905.3(OR2J2):c.67C>G (p.Gln23Glu)	OR2J2 (Q23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333171	NM_030905.3(OR2J2):c.130C>G (p.Leu44Val)	OR2J2 (L44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205151	NM_030905.3(OR2J2):c.218G>C (p.Cys73Ser)	OR2J2 (C73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338726	NM_030905.3(OR2J2):c.259C>T (p.Arg87Trp)	OR2J2 (R87W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398194	NM_030905.3(OR2J2):c.419G>A (p.Arg140His)	OR2J2 (R140H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328793	NM_030905.3(OR2J2):c.569G>A (p.Cys190Tyr)	OR2J2 (C190Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237514	NM_030905.3(OR2J2):c.614C>G (p.Ser205Cys)	OR2J2 (S205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305635	NM_030905.3(OR2J2):c.684C>G (p.Ser228Arg)	OR2J2 (S228R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205153	NM_030905.3(OR2J2):c.710A>G (p.Lys237Arg)	OR2J2 (K237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302704	NM_030905.3(OR2J2):c.724T>C (p.Cys242Arg)	OR2J2 (C242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205154	NM_030905.3(OR2J2):c.728G>A (p.Gly243Glu)	OR2J2 (G243E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205155	NM_030905.3(OR2J2):c.770T>C (p.Met257Thr)	OR2J2 (M257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302706	NM_030905.3(OR2J2):c.788C>T (p.Pro263Leu)	OR2J2 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536483	NM_030905.3(OR2J2):c.809A>C (p.Asp270Ala)	OR2J2 (D270A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205156	NM_030905.3(OR2J2):c.851C>T (p.Pro284Leu)	OR2J2 (P284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302705	NM_030905.3(OR2J2):c.854G>A (p.Ser285Asn)	OR2J2 (S285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302702	NM_030905.3(OR2J2):c.899G>T (p.Gly300Val)	OR2J2 (G300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685201	GRCh37/hg19 6p22.1(chr6:29080457-29290402)x1	OR14J1, OR2J2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808416	GRCh37/hg19 6p22.1(chr6:28965666-29155749)x1	OR2B3, OR2J2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527231	GRCh37/hg19 6p22.1(chr6:28735761-29585573)	GABBR1, MAS1L +16 more	Copy number loss	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
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

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Items: 33