OR4N4[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151938	GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	APBA2, ARHGAP11A +264 more	Copy number gain	See cases	GPathogenic
Select item 58532	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4	SNORD115-26, SNORD115-27 +201 more	Copy number gain	See cases	GPathogenic
Select item 58531	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3	APBA2, ATP10A +203 more	Copy number gain	See cases	GPathogenic
Select item 58536	GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3	ATP10A, ATP10A-DT +188 more	Copy number gain	See cases	GPathogenic
Select item 58539	GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3	ATP10A, ATP10A-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 58569	GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3	APBA2, ARHGAP11B +254 more	Copy number gain	See cases	GPathogenic
Select item 58568	GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3	APBA2, ATP10A +219 more	Copy number gain	See cases	GPathogenic
Select item 59369	GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3	ATP10A, ATP10A-DT +195 more	Copy number gain	See cases	GPathogenic
Select item 146937	GRCh38/hg38 15q11.1-11.2(chr15:20188973-22301831)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 154905	GRCh38/hg38 15q11.1-11.2(chr15:20217862-22308242)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147132	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22301831)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147090	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22121581)x1	FAM30C, GOLGA6L6 +19 more	Copy number loss	See cases	GBenign
Select item 147074	GRCh38/hg38 15q11.1-11.2(chr15:20217873-22308242)x1	OR4M2B, OR4N4 +23 more	Copy number loss	See cases	GBenign
Select item 147162	GRCh38/hg38 15q11.1-11.2(chr15:20227627-22173882)x1	GOLGA6L6, FAM30C +19 more	Copy number loss	See cases	GBenign
Select item 147061	GRCh38/hg38 15q11.1-11.2(chr15:20227627-22308242)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 147233	GRCh38/hg38 15q11.1-11.2(chr15:20257350-22308242)x3	FAM30C, GOLGA6L6 +23 more	Copy number gain	See cases	GBenign
Select item 147184	GRCh38/hg38 15q11.1-11.2(chr15:20286893-22290649)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 146978	GRCh38/hg38 15q11.1-11.2(chr15:20419199-22308242)x1	FAM30C, GOLGA6L6 +23 more	Copy number loss	See cases	GBenign
Select item 147837	GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3	APBA2, ATP10A +218 more	Copy number gain	See cases	GPathogenic
Select item 150942	GRCh38/hg38 15q11.2(chr15:20627866-22308242)x3	FAM30C, LINC01193 +22 more	Copy number gain	See cases	GLikely benign
Select item 147174	GRCh38/hg38 15q11.2(chr15:20924655-22270775)x1	FAM30C, LINC01193 +19 more	Copy number loss	See cases	GBenign
Select item 147154	GRCh38/hg38 15q11.2(chr15:20924655-22301831)x1	FAM30C, LINC01193 +19 more	Copy number loss	See cases	GBenign
Select item 146984	GRCh38/hg38 15q11.2(chr15:20924655-22301831)x1	FAM30C, LINC01193 +19 more	Copy number loss	See cases	GBenign
Select item 2579285	GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1	ATP10A, ATP10A-DT +163 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 147109	GRCh38/hg38 15q11.2(chr15:20995400-22308242)x3	FAM30C, LINC02203 +17 more	Copy number gain	See cases	GBenign
Select item 151934	GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3	ATP10A, ATP10A-DT +182 more	Copy number gain	See cases	GPathogenic
Select item 147204	GRCh38/hg38 15q11.2(chr15:21581401-22301831)x3	LINC02203, LOC102724971 +13 more	Copy number gain	See cases	GBenign
Select item 147025	GRCh38/hg38 15q11.2(chr15:21581401-22301831)x1	LINC02203, LOC102724971 +13 more	Copy number loss	See cases	GBenign
Select item 147008	GRCh38/hg38 15q11.2(chr15:21581401-22308242)x3	LINC02203, LOC102724971 +13 more	Copy number gain	See cases	GBenign
Select item 146964	GRCh38/hg38 15q11.2(chr15:21581401-22308242)x1	LINC02203, LOC102724971 +13 more	Copy number loss	See cases	GBenign
Select item 58574	GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1	ATP10A, ATP10A-DT +182 more	Copy number loss	See cases	GPathogenic
Select item 3205666	NM_001005241.4(OR4N4):c.8T>C (p.Ile3Thr)	LOC126088093, OR4M2-OT1 +1 more (I3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644939	NM_001005241.4(OR4N4):c.12A>G (p.Ala4=)	LOC126088093, OR4M2-OT1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569734	NM_001005241.4(OR4N4):c.15C>A (p.Asn5Lys)	LOC126088093, OR4M2-OT1 +1 more (N5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259735	NM_001005241.4(OR4N4):c.53C>A (p.Thr18Asn)	LOC126088093, OR4M2-OT1 +1 more (T18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339170	NM_001005241.4(OR4N4):c.61C>A (p.Gln21Lys)	LOC126088093, OR4M2-OT1 +1 more (Q21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407134	NM_001005241.4(OR4N4):c.122G>A (p.Gly41Glu)	LOC126088093, OR4M2-OT1 +1 more (G41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769404	NM_001005241.4(OR4N4):c.183A>C (p.Leu61Phe)	LOC126088093, OR4M2-OT1 +1 more (L61F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3205660	NM_001005241.4(OR4N4):c.199G>A (p.Ala67Thr)	LOC126088093, OR4M2-OT1 +1 more (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363776	NM_001005241.4(OR4N4):c.218A>G (p.Tyr73Cys)	LOC126088093, OR4M2-OT1 +1 more (Y73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205661	NM_001005241.4(OR4N4):c.223T>C (p.Phe75Leu)	LOC126088093, OR4M2-OT1 +1 more (F75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523699	NM_001005241.4(OR4N4):c.227T>C (p.Ile76Thr)	LOC126088093, OR4M2-OT1 +1 more (I76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769405	NM_001005241.4(OR4N4):c.232G>C (p.Ala78Pro)	LOC126088093, OR4M2-OT1 +1 more (A78P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769406	NM_001005241.4(OR4N4):c.256C>T (p.Leu86Phe)	LOC126088093, OR4M2-OT1 +1 more (L86F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2612902	NM_001005241.4(OR4N4):c.260C>A (p.Ser87Tyr)	LOC126088093, OR4M2-OT1 +1 more (S87Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302949	NM_001005241.4(OR4N4):c.281A>G (p.Tyr94Cys)	OR4N4, LOC126088093 +1 more (Y94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302947	NM_001005241.4(OR4N4):c.383G>A (p.Arg128Gln)	LOC126088093, OR4M2-OT1 +1 more (R128Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205662	NM_001005241.4(OR4N4):c.525C>A (p.Asp175Glu)	LOC126088093, OR4M2-OT1 +1 more (D175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205663	NM_001005241.4(OR4N4):c.566G>T (p.Cys189Phe)	LOC126088093, OR4M2-OT1 +1 more (C189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302948	NM_001005241.4(OR4N4):c.583G>A (p.Val195Met)	LOC126088093, OR4M2-OT1 +1 more (V195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223682	NM_001005241.4(OR4N4):c.707C>A (p.Ala236Asp)	LOC126088093, OR4M2-OT1 +1 more (A236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396133	NM_001005241.4(OR4N4):c.710T>C (p.Met237Thr)	LOC126088093, OR4M2-OT1 +1 more (M237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382124	NM_001005241.4(OR4N4):c.736A>T (p.Ile246Phe)	LOC126088093, OR4M2-OT1 +1 more (I246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205664	NM_001005241.4(OR4N4):c.802G>A (p.Asp268Asn)	LOC126088093, OR4M2-OT1 +1 more (D268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644940	NM_001005241.4(OR4N4):c.807G>A (p.Lys269=)	LOC126088093, OR4M2-OT1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384572	NM_001005241.4(OR4N4):c.808A>G (p.Met270Val)	LOC126088093, OR4M2-OT1 +1 more (M270V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205665	NM_001005241.4(OR4N4):c.826A>G (p.Thr276Ala)	LOC126088093, OR4M2-OT1 +1 more (T276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305319	NM_001005241.4(OR4N4):c.881T>C (p.Val294Ala)	OR4M2-OT1, OR4N4 (V294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498628	GRCh37/hg19 15q11.2(chr15:22070540-23262343)x1	CYFIP1, GOLGA6L1 +6 more	Copy number loss	not provided	GPathogenic
Select item 1711392	GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1	ATP10A, CYFIP1 +32 more	Copy number loss	not provided	GPathogenic
Select item 997814	Single allele	CYFIP1, POTEB2 +8 more	Deletion	Intellectual disability	GPathogenic
Select item 929824	GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1	CYFIP1, OR4N4 +5 more	Copy number loss	See cases	GPathogenic
Select item 816481	GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1	CYFIP1, GOLGA6L1 +6 more	Copy number loss	See cases	GPathogenic
Select item 685306	GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3	APBA2, ARHGAP11A +52 more	Copy number gain	not provided	GPathogenic
Select item 625714	GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)	APBA2, ARHGAP11A +47 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625712	GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)	APBA2, ARHGAP11B +44 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625710	GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)	ATP10A, CYFIP1 +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625709	GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)	IPW, GABRG3 +37 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 617598	GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4	ATP10A, CYFIP1 +33 more	Copy number gain	not provided	GPathogenic
Select item 443511	GRCh37/hg19 15p13-q11.2(chr15:2770421-23082442)x1	CYFIP1, GOLGA6L1 +8 more	Copy number loss	See cases	GLikely benign
Select item 402122	GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4	APBA2, ATP10A +39 more	Copy number gain	See cases	GPathogenic
Select item 395458	GRCh37/hg19 15q11.2(chr15:20733395-23487423)x3	CYFIP1, GOLGA6L1 +8 more	Copy number gain	See cases	GBenign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394315	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4	GABRA5, IPW +51 more	Copy number gain	See cases	GPathogenic
Select item 394240	GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650)	ATP10A, CYFIP1 +32 more	Copy number gain	See cases	GPathogenic
Select item 393841	GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3	ATP10A, CYFIP1 +32 more	Copy number gain	See cases	GPathogenic
Select item 253939	GRCh37/hg19 15q11.2(chr15:20848460-23191062)x1	CYFIP1, GOLGA6L1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 253587	GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3	ATP10A, CYFIP1 +29 more	Copy number gain	See cases	GPathogenic
Select item 253558	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4	APBA2, ARHGAP11A +51 more	Copy number gain	See cases	GPathogenic
Select item 253536	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4	APBA2, ARHGAP11B +48 more	Copy number gain	See cases	GPathogenic
Select item 253444	GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3	PWAR6, PWARSN +32 more	Copy number gain	See cases	GPathogenic
Select item 236372	Single allele	POTEB, POTEB2 +32 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 236371	Single allele	POTEB, POTEB2 +27 more	Duplication	Autism spectrum disorder	GPathogenic
Select item 157327	Single allele	GOLGA6L6, OR4M2 +3 more	Duplication	Large for gestational age	Gnot provided

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Items: 85