OR51V1[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2610939	NM_001004760.3(OR51V1):c.828C>G (p.His276Gln)	OR51V1 (H276Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355222	NM_001004760.3(OR51V1):c.820G>A (p.Val274Met)	OR51V1 (V274M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397887	NM_001004760.3(OR51V1):c.769C>T (p.Pro257Ser)	OR51V1 (P257S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468539	NM_001004760.3(OR51V1):c.763T>C (p.Tyr255His)	OR51V1 (Y255H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522516	NM_001004760.3(OR51V1):c.646C>T (p.Leu216Phe)	OR51V1 (L216F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355513	NM_001004760.3(OR51V1):c.605C>A (p.Ala202Asp)	OR51V1 (A202D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240453	NM_001004760.3(OR51V1):c.587G>A (p.Arg196Gln)	OR51V1 (R196Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455956	NM_001004760.3(OR51V1):c.481C>G (p.Pro161Ala)	OR51V1 (P161A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265440	NM_001004760.3(OR51V1):c.431T>G (p.Ile144Ser)	OR51V1 (I144S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342653	NM_001004760.3(OR51V1):c.401G>A (p.Arg134His)	OR51V1 (R134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387054	NM_001004760.3(OR51V1):c.313T>G (p.Tyr105Asp)	OR51V1 (Y105D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384534	NM_001004760.3(OR51V1):c.304G>A (p.Ala102Thr)	OR51V1 (A102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2360899	NM_001004760.3(OR51V1):c.269G>A (p.Gly90Glu)	OR51V1 (G90E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317495	NM_001004760.3(OR51V1):c.238A>C (p.Thr80Pro)	OR51V1 (T80P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391147	NM_001004760.3(OR51V1):c.226A>C (p.Met76Leu)	OR51V1 (M76L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275575	NM_001004760.3(OR51V1):c.203T>C (p.Met68Thr)	OR51V1 (M68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486369	NM_001004760.3(OR51V1):c.186G>A (p.Met62Ile)	OR51V1 (M62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373651	NM_001004760.3(OR51V1):c.171C>G (p.Ser57Arg)	OR51V1 (S57R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685395	GRCh37/hg19 11p15.4(chr11:5187271-5258592)x1	HBB, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685394	GRCh37/hg19 11p15.4(chr11:5183175-5269140)x1	HBB, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1711331	GRCh37/hg19 11p15.4(chr11:5198944-5255663)x1	HBB, HBD +1 more	Copy number loss	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1455047	NC_000011.9:g.(?_5145468)_(5247440_?)del	HBB, OR51V1 +2 more	Deletion	not provided	GPathogenic
Select item 1341261	GRCh37/hg19 11p15.4(chr11:5187270-5268465)x1	HBB, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +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 815403	GRCh37/hg19 11p15.4(chr11:5187270-5262621)x1	HBD, OR51V1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815402	GRCh37/hg19 11p15.4(chr11:5187269-5268465)x1	HBB, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 815401	GRCh37/hg19 11p15.4(chr11:5132252-5251954)x1	HBB, OR52A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815400	GRCh37/hg19 11p15.4(chr11:5112523-5336304)x1	HBD, OR52A1 +7 more	Copy number loss	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +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	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 563812	GRCh37/hg19 11p15.4(chr11:5175476-5258592)x1	OR51V1, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +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: 50