OR51F1[gene] - ClinVar

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Items: 53

	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 2373758	NM_001004752.2(OR51F1):c.926G>A (p.Arg309His)	MMP26, OR51F1 (R309H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205797	NM_001004752.2(OR51F1):c.905G>A (p.Ser302Asn)	MMP26, OR51F1 (S302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412414	NM_001004752.2(OR51F1):c.880C>G (p.Pro294Ala)	MMP26, OR51F1 (P294A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205796	NM_001004752.2(OR51F1):c.839T>G (p.Val280Gly)	MMP26, OR51F1 (V280G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508859	NM_001004752.2(OR51F1):c.823C>T (p.Arg275Trp)	MMP26, OR51F1 (R275W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601304	NM_001004752.2(OR51F1):c.815G>A (p.Arg272His)	MMP26, OR51F1 (R272H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303008	NM_001004752.2(OR51F1):c.667A>G (p.Ile223Val)	MMP26, OR51F1 (I223V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324084	NM_001004752.2(OR51F1):c.614G>A (p.Ser205Asn)	MMP26, OR51F1 (S205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487304	NM_001004752.2(OR51F1):c.608C>A (p.Ala203Glu)	MMP26, OR51F1 (A203E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337136	NM_001004752.2(OR51F1):c.547C>T (p.Leu183Phe)	MMP26, OR51F1 (L183F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205795	NM_001004752.2(OR51F1):c.497T>G (p.Leu166Trp)	MMP26, OR51F1 (L166W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461318	NM_001004752.2(OR51F1):c.479G>T (p.Arg160Leu)	MMP26, OR51F1 (R160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406561	NM_001004752.2(OR51F1):c.478C>T (p.Arg160Cys)	MMP26, OR51F1 (R160C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205794	NM_001004752.2(OR51F1):c.379A>C (p.Thr127Pro)	MMP26, OR51F1 (T127P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353092	NM_001004752.2(OR51F1):c.314G>A (p.Ser105Asn)	MMP26, OR51F1 (S105N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403275	NM_001004752.2(OR51F1):c.295del (p.Arg99fs)	MMP26, OR51F1 (R99fs)	Deletion (frameshift variant)	not specified	GBenign
Select item 2611956	NM_001004752.2(OR51F1):c.274G>A (p.Gly92Ser)	MMP26, OR51F1 (G92S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303005	NM_001004752.2(OR51F1):c.254C>G (p.Ser85Cys)	MMP26, OR51F1 (S85C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303007	NM_001004752.2(OR51F1):c.194A>G (p.His65Arg)	MMP26, OR51F1 (H65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303006	NM_001004752.2(OR51F1):c.155G>A (p.Ser52Asn)	MMP26, OR51F1 (S52N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217734	NM_001004752.2(OR51F1):c.148G>A (p.Gly50Arg)	MMP26, OR51F1 (G50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221441	NM_001004752.2(OR51F1):c.100G>T (p.Val34Phe)	MMP26, OR51F1 (V34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334864	NM_001004752.2(OR51F1):c.97C>A (p.His33Asn)	MMP26, OR51F1 (H33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616184	NM_001004752.2(OR51F1):c.73G>A (p.Gly25Ser)	MMP26, OR51F1 (G25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548462	NM_001004752.2(OR51F1):c.50A>C (p.Lys17Thr)	MMP26, OR51F1 (K17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205793	NM_001004752.2(OR51F1):c.31C>G (p.Leu11Val)	MMP26, OR51F1 (L11V)	Single nucleotide variant (missense variant +1 more)	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 1341154	GRCh37/hg19 11p15.4(chr11:4781648-4899547)x1	OR51F1, OR51F2 +2 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 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: 53