OR51E2[gene] - ClinVar

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Items: 51

	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 2401661	NM_030774.4(OR51E2):c.937G>A (p.Asp313Asn)	OR51E2 (D313N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303004	NM_030774.4(OR51E2):c.911C>T (p.Ala304Val)	OR51E2 (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552751	NM_030774.4(OR51E2):c.902G>A (p.Arg301Gln)	OR51E2 (R301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303001	NM_030774.4(OR51E2):c.901C>T (p.Arg301Trp)	OR51E2 (R301W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229068	NM_030774.4(OR51E2):c.899C>T (p.Thr300Ile)	OR51E2 (T300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205790	NM_030774.4(OR51E2):c.812T>C (p.Val271Ala)	OR51E2 (V271A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393527	NM_030774.4(OR51E2):c.802C>T (p.His268Tyr)	OR51E2 (H268Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466212	NM_030774.4(OR51E2):c.748T>C (p.Phe250Leu)	OR51E2 (F250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533390	NM_030774.4(OR51E2):c.697C>G (p.Arg233Gly)	OR51E2 (R233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205789	NM_030774.4(OR51E2):c.690G>T (p.Lys230Asn)	OR51E2 (K230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523705	NM_030774.4(OR51E2):c.644T>C (p.Leu215Ser)	OR51E2 (L215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367000	NM_030774.4(OR51E2):c.628G>A (p.Val210Ile)	OR51E2 (V210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397628	NM_030774.4(OR51E2):c.512A>G (p.Asn171Ser)	OR51E2 (N171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313054	NM_030774.4(OR51E2):c.464T>A (p.Phe155Tyr)	OR51E2 (F155Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516753	NM_030774.4(OR51E2):c.449G>A (p.Arg150His)	OR51E2 (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228025	NM_030774.4(OR51E2):c.436G>A (p.Val146Met)	OR51E2 (V146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379138	NM_030774.4(OR51E2):c.409A>G (p.Asn137Asp)	OR51E2 (N137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303003	NM_030774.4(OR51E2):c.340C>G (p.Leu114Val)	OR51E2 (L114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266295	NM_030774.4(OR51E2):c.275G>T (p.Ser92Ile)	OR51E2 (S92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205788	NM_030774.4(OR51E2):c.244G>A (p.Ala82Thr)	OR51E2 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599266	NM_030774.4(OR51E2):c.173T>C (p.Met58Thr)	OR51E2 (M58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205787	NM_030774.4(OR51E2):c.149C>T (p.Thr50Met)	OR51E2 (T50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559223	NM_030774.4(OR51E2):c.130G>A (p.Val44Met)	OR51E2 (V44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399447	NM_030774.4(OR51E2):c.94T>C (p.Ser32Pro)	OR51E2 (S32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303002	NM_030774.4(OR51E2):c.25G>A (p.Ala9Thr)	OR51E2 (A9T)	Single nucleotide variant (missense variant)	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 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: 51