OR51A2[gene] - ClinVar

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Items: 44

	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 2604742	NM_001004748.1(OR51A2):c.898A>G (p.Ile300Val)	MMP26, OR51A2 (I300V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403274	NM_001004748.1(OR51A2):c.799G>C (p.Gly267Arg)	MMP26, OR51A2 (G267R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2333323	NM_001004748.1(OR51A2):c.791G>C (p.Arg264Pro)	MMP26, OR51A2 (R264P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279217	NM_001004748.1(OR51A2):c.740G>A (p.Cys247Tyr)	MMP26, OR51A2 (C247Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541545	NM_001004748.1(OR51A2):c.710A>G (p.Lys237Arg)	MMP26, OR51A2 (K237R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624290	NM_001004748.1(OR51A2):c.676G>A (p.Val226Ile)	MMP26, OR51A2 (V226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601909	NM_001004748.1(OR51A2):c.659C>T (p.Thr220Ile)	MMP26, OR51A2 (T220I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2301900	NM_001004748.1(OR51A2):c.634T>G (p.Phe212Val)	MMP26, OR51A2 (F212V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205741	NM_001004748.1(OR51A2):c.585A>T (p.Arg195Ser)	MMP26, OR51A2 (R195S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302981	NM_001004748.1(OR51A2):c.557T>C (p.Val186Ala)	MMP26, OR51A2 (V186A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205740	NM_001004748.1(OR51A2):c.511T>G (p.Cys171Gly)	MMP26, OR51A2 (C171G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312903	NM_001004748.1(OR51A2):c.459G>T (p.Lys153Asn)	MMP26, OR51A2 (K153N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557558	NM_001004748.1(OR51A2):c.296G>C (p.Cys99Ser)	MMP26, OR51A2 (C99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641537	NM_001004748.1(OR51A2):c.214G>A (p.Asp72Asn)	MMP26, OR51A2 (D72N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2343161	NM_001004748.1(OR51A2):c.210G>T (p.Met70Ile)	MMP26, OR51A2 (M70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205739	NM_001004748.1(OR51A2):c.199A>C (p.Met67Leu)	MMP26, OR51A2 (M67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487034	NM_001004748.1(OR51A2):c.155A>G (p.Lys52Arg)	MMP26, OR51A2 (K52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488133	NM_001004748.1(OR51A2):c.136A>G (p.Thr46Ala)	MMP26, OR51A2 (T46A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302982	NM_001004748.1(OR51A2):c.84G>C (p.Trp28Cys)	MMP26, OR51A2 (W28C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604029	NM_001004748.1(OR51A2):c.20C>T (p.Ser7Leu)	MMP26, OR51A2 (S7L)	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 1340294	GRCh37/hg19 11p15.4(chr11:4937852-5037488)x1	MMP26, OR51A2 +3 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 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 980410	GRCh37/hg19 11p15.4(chr11:4970264-5225635)x1	OR51A2, OR52E2 +6 more	Copy number loss	not provided	GUncertain significance
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 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 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
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: 44