OR51D1[gene] - ClinVar

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Items: 48

	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 2207025	NM_001004751.3(OR51D1):c.46G>A (p.Gly16Arg)	OR51D1 (G16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280385	NM_001004751.3(OR51D1):c.79G>A (p.Val27Met)	OR51D1 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235170	NM_001004751.3(OR51D1):c.104C>T (p.Thr35Ile)	OR51D1 (T35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460313	NM_001004751.3(OR51D1):c.127C>T (p.Pro43Ser)	OR51D1 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407696	NM_001004751.3(OR51D1):c.188G>A (p.Arg63His)	OR51D1 (R63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367618	NM_001004751.3(OR51D1):c.200G>A (p.Arg67Gln)	OR51D1 (R67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302999	NM_001004751.3(OR51D1):c.214A>G (p.Met72Val)	OR51D1 (M72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369874	NM_001004751.3(OR51D1):c.235C>G (p.Leu79Val)	OR51D1 (L79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334652	NM_001004751.3(OR51D1):c.242C>A (p.Thr81Asn)	OR51D1 (T81N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205778	NM_001004751.3(OR51D1):c.274C>T (p.Pro92Ser)	OR51D1 (P92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389527	NM_001004751.3(OR51D1):c.290T>G (p.Leu97Arg)	OR51D1 (L97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325923	NM_001004751.3(OR51D1):c.409G>A (p.Val137Met)	OR51D1 (V137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531119	NM_001004751.3(OR51D1):c.475C>G (p.Leu159Val)	OR51D1 (L159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295054	NM_001004751.3(OR51D1):c.582C>G (p.His194Gln)	OR51D1 (H194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205779	NM_001004751.3(OR51D1):c.623A>C (p.Asn208Thr)	OR51D1 (N208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205780	NM_001004751.3(OR51D1):c.664G>A (p.Val222Met)	OR51D1 (V222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489596	NM_001004751.3(OR51D1):c.673C>T (p.Leu225Phe)	OR51D1 (L225F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367507	NM_001004751.3(OR51D1):c.697C>T (p.Leu233Phe)	OR51D1 (L233F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302998	NM_001004751.3(OR51D1):c.730C>T (p.Arg244Trp)	OR51D1 (R244W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485136	NM_001004751.3(OR51D1):c.926A>G (p.Lys309Arg)	OR51D1 (K309R)	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 1807596	GRCh37/hg19 11p15.4(chr11:4384773-4681230)x3	C11orf40, OR51D1 +9 more	Copy number gain	not provided	GUncertain significance
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 441732	GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	ART1, ART5 +17 more	Copy number gain	See cases	GLikely benign
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: 48