OR52R1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2349867	NM_001005177.3(OR52R1):c.907G>A (p.Gly303Arg)	MMP26, OR52R1 (G303R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534077	NM_001005177.3(OR52R1):c.881T>A (p.Ile294Asn)	MMP26, OR52R1 (I294N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206033	NM_001005177.3(OR52R1):c.874C>T (p.Pro292Ser)	MMP26, OR52R1 (P292S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206032	NM_001005177.3(OR52R1):c.845T>C (p.Leu282Pro)	MMP26, OR52R1 (L282P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303121	NM_001005177.3(OR52R1):c.833T>C (p.Leu278Pro)	MMP26, OR52R1 (L278P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556428	NM_001005177.3(OR52R1):c.808G>A (p.Asp270Asn)	MMP26, OR52R1 (D270N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520567	NM_001005177.3(OR52R1):c.796C>T (p.Arg266Cys)	MMP26, OR52R1 (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206031	NM_001005177.3(OR52R1):c.760C>T (p.Leu254Phe)	MMP26, OR52R1 (L254F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321570	NM_001005177.3(OR52R1):c.664G>A (p.Val222Met)	MMP26, OR52R1 (V222M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303118	NM_001005177.3(OR52R1):c.595C>G (p.Arg199Gly)	MMP26, OR52R1 (R199G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303119	NM_001005177.3(OR52R1):c.513C>G (p.Phe171Leu)	MMP26, OR52R1 (F171L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544217	NM_001005177.3(OR52R1):c.503G>C (p.Arg168Thr)	MMP26, OR52R1 (R168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540595	NM_001005177.3(OR52R1):c.473G>T (p.Trp158Leu)	MMP26, OR52R1 (W158L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206030	NM_001005177.3(OR52R1):c.451G>A (p.Val151Met)	MMP26, OR52R1 (V151M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206029	NM_001005177.3(OR52R1):c.368T>C (p.Leu123Pro)	MMP26, OR52R1 (L123P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303116	NM_001005177.3(OR52R1):c.364G>T (p.Ala122Ser)	MMP26, OR52R1 (A122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206027	NM_001005177.3(OR52R1):c.245C>T (p.Pro82Leu)	MMP26, OR52R1 (P82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556418	NM_001005177.3(OR52R1):c.226C>T (p.Leu76Phe)	MMP26, OR52R1 (L76F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562582	NM_001005177.3(OR52R1):c.185T>C (p.Met62Thr)	MMP26, OR52R1 (M62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311055	NM_001005177.3(OR52R1):c.167A>C (p.His56Pro)	MMP26, OR52R1 (H56P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303120	NM_001005177.3(OR52R1):c.128T>C (p.Val43Ala)	MMP26, OR52R1 (V43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303117	NM_001005177.3(OR52R1):c.110C>T (p.Thr37Met)	MMP26, OR52R1 (T37M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2641534	NM_001005177.3(OR52R1):c.84G>A (p.Leu28=)	MMP26, OR52R1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641535	NM_001005177.3(OR52R1):c.81G>C (p.Gln27His)	MMP26, OR52R1 (Q27H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2335740	NM_001005177.3(OR52R1):c.61C>T (p.Pro21Ser)	MMP26, OR52R1 (P21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1341154	GRCh37/hg19 11p15.4(chr11:4781648-4899547)x1	OR51F1, OR51F2 +2 more	Copy number loss	not provided	GLikely benign
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 443040	GRCh37/hg19 11p15.4(chr11:4642886-5200656)x3	MMP26, OR51A2 +17 more	Copy number gain	See cases	GLikely benign
Select item 442369	GRCh37/hg19 11p15.4(chr11:4634077-5208018)x3	MMP26, OR51A2 +17 more	Copy number gain	See cases	GLikely benign
Select item 442143	GRCh37/hg19 11p15.4(chr11:4364896-4926365)x3	C11orf40, OR51D1 +15 more	Copy number gain	See cases	GLikely benign
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 402124	GRCh37/hg19 11p15.4(chr11:4387760-4840438)x3	C11orf40, OR51D1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 253777	GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1	C11orf40, OR51D1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 226252	GRCh37/hg19 11p15.4(chr11:4371631-5253127)	OR51G2, OR51L1 +28 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic

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Items: 52