OR51I1[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	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 549635	NC_000011.10:g.5433500_5475233dup	OR51B5, OR51I1 +1 more	Duplication	Primary amenorrhea	GLikely benign
Select item 2263153	NM_001005288.3(OR51I1):c.905G>A (p.Arg302His)	OR51B5, OR51I1 (R302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205832	NM_001005288.3(OR51I1):c.881A>G (p.Tyr294Cys)	OR51B5, OR51I1 (Y294C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316758	NM_001005288.3(OR51I1):c.811C>G (p.Pro271Ala)	OR51B5, OR51I1 (P271A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462518	NM_001005288.3(OR51I1):c.767C>T (p.Pro256Leu)	OR51B5, OR51I1 (P256L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373033	NM_001005288.3(OR51I1):c.707G>A (p.Arg236Gln)	OR51B5, OR51I1 (R236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599373	NM_001005288.3(OR51I1):c.706C>T (p.Arg236Trp)	OR51B5, OR51I1 (R236W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257068	NM_001005288.3(OR51I1):c.690C>G (p.Ile230Met)	OR51B5, OR51I1 (I230M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205831	NM_001005288.3(OR51I1):c.685G>T (p.Val229Phe)	OR51B5, OR51I1 (V229F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205830	NM_001005288.3(OR51I1):c.670C>A (p.Leu224Met)	OR51B5, OR51I1 (L224M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303028	NM_001005288.3(OR51I1):c.613A>G (p.Ile205Val)	OR51B5, OR51I1 (I205V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303027	NM_001005288.3(OR51I1):c.604C>G (p.Leu202Val)	OR51B5, OR51I1 (L202V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555277	NM_001005288.3(OR51I1):c.542G>A (p.Cys181Tyr)	OR51B5, OR51I1 (C181Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550609	NM_001005288.3(OR51I1):c.542G>C (p.Cys181Ser)	OR51B5, OR51I1 (C181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205829	NM_001005288.3(OR51I1):c.539A>C (p.Tyr180Ser)	OR51B5, OR51I1 (Y180S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320436	NM_001005288.3(OR51I1):c.533A>T (p.His178Leu)	OR51B5, OR51I1 (H178L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205828	NM_001005288.3(OR51I1):c.500G>A (p.Arg167Gln)	OR51B5, OR51I1 (R167Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456679	NM_001005288.3(OR51I1):c.467C>T (p.Thr156Ile)	OR51B5, OR51I1 (T156I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344131	NM_001005288.3(OR51I1):c.425G>A (p.Arg142His)	OR51B5, OR51I1 (R142H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261535	NM_001005288.3(OR51I1):c.412C>G (p.Leu138Val)	OR51B5, OR51I1 (L138V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467779	NM_001005288.3(OR51I1):c.398G>A (p.Arg133His)	OR51B5, OR51I1 (R133H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303029	NM_001005288.3(OR51I1):c.336G>A (p.Met112Ile)	OR51B5, OR51I1 (M112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212641	NM_001005288.3(OR51I1):c.301G>A (p.Val101Ile)	OR51B5, OR51I1 (V101I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303026	NM_001005288.3(OR51I1):c.284C>G (p.Ala95Gly)	OR51B5, OR51I1 (A95G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2476237	NM_001005288.3(OR51I1):c.251T>G (p.Ile84Ser)	OR51B5, OR51I1 (I84S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205826	NM_001005288.3(OR51I1):c.205G>A (p.Ala69Thr)	OR51B5, OR51I1 (A69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205825	NM_001005288.3(OR51I1):c.163C>T (p.Pro55Ser)	OR51B5, OR51I1 (P55S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205824	NM_001005288.3(OR51I1):c.149T>C (p.Leu50Pro)	OR51B5, OR51I1 (L50P)	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 1809171	GRCh37/hg19 11p15.4(chr11:5439244-5570043)x1	OR51I1, OR51I2 +5 more	Copy number loss	not provided	GUncertain significance
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: 50