OR51S1[gene] - ClinVar

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Items: 55

	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 3205864	NM_001004758.1(OR51S1):c.913G>A (p.Glu305Lys)	MMP26, OR51S1 (E305K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205863	NM_001004758.1(OR51S1):c.908T>C (p.Met303Thr)	MMP26, OR51S1 (M303T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516417	NM_001004758.1(OR51S1):c.905A>G (p.Lys302Arg)	MMP26, OR51S1 (K302R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623096	NM_001004758.1(OR51S1):c.892C>A (p.Leu298Ile)	MMP26, OR51S1 (L298I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303039	NM_001004758.1(OR51S1):c.885C>A (p.Asn295Lys)	MMP26, OR51S1 (N295K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410316	NM_001004758.1(OR51S1):c.851C>T (p.Ser284Phe)	MMP26, OR51S1 (S284F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301735	NM_001004758.1(OR51S1):c.835A>G (p.Thr279Ala)	MMP26, OR51S1 (T279A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2560585	NM_001004758.1(OR51S1):c.833A>G (p.His278Arg)	MMP26, OR51S1 (H278R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303040	NM_001004758.1(OR51S1):c.775T>C (p.Tyr259His)	MMP26, OR51S1 (Y259H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205862	NM_001004758.1(OR51S1):c.722G>A (p.Arg241His)	MMP26, OR51S1 (R241H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205861	NM_001004758.1(OR51S1):c.710C>A (p.Ser237Tyr)	MMP26, OR51S1 (S237Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204798	NM_001004758.1(OR51S1):c.698A>C (p.Gln233Pro)	MMP26, OR51S1 (Q233P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538064	NM_001004758.1(OR51S1):c.638C>T (p.Ala213Val)	MMP26, OR51S1 (A213V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472260	NM_001004758.1(OR51S1):c.626T>C (p.Val209Ala)	MMP26, OR51S1 (V209A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465927	NM_001004758.1(OR51S1):c.595G>A (p.Glu199Lys)	MMP26, OR51S1 (E199K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510523	NM_001004758.1(OR51S1):c.578C>T (p.Ala193Val)	MMP26, OR51S1 (A193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205859	NM_001004758.1(OR51S1):c.569C>T (p.Pro190Leu)	MMP26, OR51S1 (P190L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559929	NM_001004758.1(OR51S1):c.532C>T (p.Leu178Phe)	MMP26, OR51S1 (L178F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474229	NM_001004758.1(OR51S1):c.522G>A (p.Met174Ile)	MMP26, OR51S1 (M174I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550942	NM_001004758.1(OR51S1):c.502C>G (p.Pro168Ala)	MMP26, OR51S1 (P168A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525787	NM_001004758.1(OR51S1):c.459C>A (p.Ser153Arg)	MMP26, OR51S1 (S153R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205858	NM_001004758.1(OR51S1):c.415C>T (p.His139Tyr)	MMP26, OR51S1 (H139Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393149	NM_001004758.1(OR51S1):c.383T>C (p.Ile128Thr)	MMP26, OR51S1 (I128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600914	NM_001004758.1(OR51S1):c.290C>A (p.Ala97Asp)	MMP26, OR51S1 (A97D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536116	NM_001004758.1(OR51S1):c.208T>C (p.Phe70Leu)	MMP26, OR51S1 (F70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205856	NM_001004758.1(OR51S1):c.193C>T (p.Arg65Cys)	MMP26, OR51S1 (R65C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525414	NM_001004758.1(OR51S1):c.124G>A (p.Val42Ile)	MMP26, OR51S1 (V42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303041	NM_001004758.1(OR51S1):c.97T>G (p.Ser33Ala)	MMP26, OR51S1 (S33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303042	NM_001004758.1(OR51S1):c.49G>A (p.Ala17Thr)	MMP26, OR51S1 (A17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205857	NM_001004758.1(OR51S1):c.37A>G (p.Ser13Gly)	MMP26, OR51S1 (S13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405244	NM_001004758.1(OR51S1):c.26C>T (p.Ala9Val)	MMP26, OR51S1 (A9V)	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 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 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +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: 55