OR51M1[gene] - ClinVar

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Items: 46

	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 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 2327552	NM_001004756.3(OR51M1):c.57G>C (p.Gln19His)	OR51B5, OR51M1 (Q19H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215009	NM_001004756.3(OR51M1):c.115A>G (p.Ile39Val)	OR51B5, OR51M1 (I39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271703	NM_001004756.3(OR51M1):c.138G>A (p.Met46Ile)	OR51B5, OR51M1 (M46I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526181	NM_001004756.3(OR51M1):c.161A>T (p.Asn54Ile)	OR51B5, OR51M1 (N54I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226556	NM_001004756.3(OR51M1):c.197G>A (p.Arg66His)	OR51B5, OR51M1 (R66H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2276974	NM_001004756.3(OR51M1):c.247C>G (p.Leu83Val)	OR51B5, OR51M1 (L83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205843	NM_001004756.3(OR51M1):c.259G>A (p.Val87Met)	OR51B5, OR51M1 (V87M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220502	NM_001004756.3(OR51M1):c.314A>G (p.Tyr105Cys)	OR51B5, OR51M1 (Y105C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282746	NM_001004756.3(OR51M1):c.379C>T (p.Leu127Phe)	OR51B5, OR51M1 (L127F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303032	NM_001004756.3(OR51M1):c.380T>G (p.Leu127Arg)	OR51B5, OR51M1 (L127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205844	NM_001004756.3(OR51M1):c.458T>A (p.Val153Glu)	OR51B5, OR51M1 (V153E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217739	NM_001004756.3(OR51M1):c.508C>T (p.Pro170Ser)	OR51B5, OR51M1 (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228065	NM_001004756.3(OR51M1):c.637A>C (p.Met213Leu)	OR51B5, OR51M1 (M213L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482288	NM_001004756.3(OR51M1):c.658A>T (p.Met220Leu)	OR51B5, OR51M1 (M220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205845	NM_001004756.3(OR51M1):c.686C>T (p.Ser229Phe)	OR51B5, OR51M1 (S229F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338546	NM_001004756.3(OR51M1):c.739C>A (p.Arg247Ser)	OR51B5, OR51M1 (R247S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346005	NM_001004756.3(OR51M1):c.740G>A (p.Arg247His)	OR51B5, OR51M1 (R247H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2271327	NM_001004756.3(OR51M1):c.760A>G (p.Thr254Ala)	OR51B5, OR51M1 (T254A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509780	NM_001004756.3(OR51M1):c.804G>A (p.Met268Ile)	OR51B5, OR51M1 (M268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303033	NM_001004756.3(OR51M1):c.818T>G (p.Val273Gly)	OR51B5, OR51M1 (V273G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465678	NM_001004756.3(OR51M1):c.845C>A (p.Pro282His)	OR51B5, OR51M1 (P282H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312552	NM_001004756.3(OR51M1):c.869A>G (p.Asn290Ser)	OR51B5, OR51M1 (N290S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614431	NM_001004756.3(OR51M1):c.881T>C (p.Phe294Ser)	OR51B5, OR51M1 (F294S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303034	NM_001004756.3(OR51M1):c.929A>G (p.Glu310Gly)	OR51B5, OR51M1 (E310G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205847	NM_001004756.3(OR51M1):c.940G>A (p.Ala314Thr)	OR51B5, OR51M1 (A314T)	Single nucleotide variant (missense variant +1 more)	not specified	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	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1809092	GRCh37/hg19 11p15.4(chr11:5361272-5660023)x1	OR51B5, OR51B6 +11 more	Copy number loss	not provided	GUncertain significance
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 1807597	GRCh37/hg19 11p15.4(chr11:5279153-5619949)x3	HBE1, OR51B2 +13 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 1340453	GRCh37/hg19 11p15.4(chr11:5373646-5519671)x1	OR51B6, OR51I1 +4 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 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 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 441831	GRCh37/hg19 11p15.4(chr11:5361271-5616544)x1	OR51B5, OR51B6 +9 more	Copy number loss	See cases	GUncertain significance
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

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Items: 46