OR51G1[gene] - ClinVar

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Items: 58

	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 2306956	NM_001005237.1(OR51G1):c.939G>C (p.Lys313Asn)	MMP26, OR51G1 (K313N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290205	NM_001005237.1(OR51G1):c.920A>G (p.Lys307Arg)	MMP26, OR51G1 (K307R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319150	NM_001005237.1(OR51G1):c.911G>A (p.Arg304His)	MMP26, OR51G1 (R304H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472269	NM_001005237.1(OR51G1):c.905G>A (p.Arg302His)	MMP26, OR51G1 (R302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205816	NM_001005237.1(OR51G1):c.832A>G (p.Met278Val)	MMP26, OR51G1 (M278V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409126	NM_001005237.1(OR51G1):c.771G>A (p.Met257Ile)	MMP26, OR51G1 (M257I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466781	NM_001005237.1(OR51G1):c.674G>T (p.Arg225Leu)	MMP26, OR51G1 (R225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205815	NM_001005237.1(OR51G1):c.661G>T (p.Ala221Ser)	MMP26, OR51G1 (A221S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617626	NM_001005237.1(OR51G1):c.661G>A (p.Ala221Thr)	MMP26, OR51G1 (A221T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303019	NM_001005237.1(OR51G1):c.619T>G (p.Cys207Gly)	MMP26, OR51G1 (C207G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359052	NM_001005237.1(OR51G1):c.617C>T (p.Ala206Val)	MMP26, OR51G1 (A206V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400631	NM_001005237.1(OR51G1):c.611T>C (p.Val204Ala)	MMP26, OR51G1 (V204A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376684	NM_001005237.1(OR51G1):c.594C>A (p.His198Gln)	MMP26, OR51G1 (H198Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205814	NM_001005237.1(OR51G1):c.581T>G (p.Ile194Ser)	MMP26, OR51G1 (I194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555509	NM_001005237.1(OR51G1):c.572G>T (p.Cys191Phe)	MMP26, OR51G1 (C191F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215305	NM_001005237.1(OR51G1):c.565C>G (p.Leu189Val)	MMP26, OR51G1 (L189V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205813	NM_001005237.1(OR51G1):c.502T>G (p.Phe168Val)	MMP26, OR51G1 (F168V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462785	NM_001005237.1(OR51G1):c.500G>A (p.Arg167His)	MMP26, OR51G1 (R167H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212123	NM_001005237.1(OR51G1):c.475C>A (p.Leu159Ile)	MMP26, OR51G1 (L159I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460537	NM_001005237.1(OR51G1):c.382G>A (p.Val128Ile)	MMP26, OR51G1 (V128I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2305515	NM_001005237.1(OR51G1):c.349C>A (p.Leu117Met)	MMP26, OR51G1 (L117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556394	NM_001005237.1(OR51G1):c.308T>A (p.Leu103His)	MMP26, OR51G1 (L103H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285881	NM_001005237.1(OR51G1):c.256A>G (p.Ile86Val)	MMP26, OR51G1 (I86V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214317	NM_001005237.1(OR51G1):c.247G>C (p.Val83Leu)	MMP26, OR51G1 (V83L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205812	NM_001005237.1(OR51G1):c.206C>T (p.Ala69Val)	MMP26, OR51G1 (A69V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303017	NM_001005237.1(OR51G1):c.197G>T (p.Gly66Val)	MMP26, OR51G1 (G66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205811	NM_001005237.1(OR51G1):c.196G>A (p.Gly66Ser)	MMP26, OR51G1 (G66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303018	NM_001005237.1(OR51G1):c.164C>T (p.Ala55Val)	MMP26, OR51G1 (A55V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303016	NM_001005237.1(OR51G1):c.158C>T (p.Thr53Ile)	MMP26, OR51G1 (T53I)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2261773	NM_001005237.1(OR51G1):c.148G>A (p.Val50Ile)	MMP26, OR51G1 (V50I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456315	NM_001005237.1(OR51G1):c.142C>G (p.Leu48Val)	MMP26, OR51G1 (L48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283105	NM_001005237.1(OR51G1):c.132C>A (p.Asn44Lys)	MMP26, OR51G1 (N44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205810	NM_001005237.1(OR51G1):c.113T>C (p.Leu38Pro)	MMP26, OR51G1 (L38P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476025	NM_001005237.1(OR51G1):c.95C>A (p.Pro32His)	MMP26, OR51G1 (P32H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366912	NM_001005237.1(OR51G1):c.50C>T (p.Thr17Met)	MMP26, OR51G1 (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 1340294	GRCh37/hg19 11p15.4(chr11:4937852-5037488)x1	MMP26, OR51A2 +3 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 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: 58