ClinVar for Gene (Select 81282) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303025	NM_001005238.2(OR51G2):c.578C>T (p.Ala193Val)	MMP26, OR51G2 (A193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303024	NM_001005238.2(OR51G2):c.783T>G (p.Ile261Met)	MMP26, OR51G2 (I261M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303023	NM_001005238.2(OR51G2):c.247C>T (p.Leu83Phe)	MMP26, OR51G2 (L83F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303022	NM_001005238.2(OR51G2):c.191T>G (p.Met64Arg)	MMP26, OR51G2 (M64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303021	NM_001005238.2(OR51G2):c.466C>T (p.Arg156Cys)	MMP26, OR51G2 (R156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303020	NM_001005238.2(OR51G2):c.518A>G (p.Tyr173Cys)	MMP26, OR51G2 (Y173C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205823	NM_001005238.2(OR51G2):c.802C>T (p.Arg268Cys)	MMP26, OR51G2 (R268C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205821	NM_001005238.2(OR51G2):c.725C>T (p.Ala242Val)	MMP26, OR51G2 (A242V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205820	NM_001005238.2(OR51G2):c.589A>C (p.Met197Leu)	MMP26, OR51G2 (M197L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205819	NM_001005238.2(OR51G2):c.467G>A (p.Arg156His)	MMP26, OR51G2 (R156H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205818	NM_001005238.2(OR51G2):c.170A>G (p.Glu57Gly)	MMP26, OR51G2 (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205817	NM_001005238.2(OR51G2):c.115A>C (p.Met39Leu)	MMP26, OR51G2 (M39L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614877	NM_001005238.2(OR51G2):c.46A>G (p.Thr16Ala)	MMP26, OR51G2 (T16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513070	NM_001005238.2(OR51G2):c.683G>A (p.Arg228His)	MMP26, OR51G2 (R228H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510231	NM_001005238.2(OR51G2):c.824A>T (p.His275Leu)	MMP26, OR51G2 (H275L)	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 2458946	NM_001005238.2(OR51G2):c.730A>G (p.Asn244Asp)	MMP26, OR51G2 (N244D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454966	NM_001005238.2(OR51G2):c.379C>T (p.Arg127Cys)	MMP26, OR51G2 (R127C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403988	NM_001005238.2(OR51G2):c.803G>A (p.Arg268His)	MMP26, OR51G2 (R268H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373493	NM_001005238.2(OR51G2):c.550T>C (p.Cys184Arg)	MMP26, OR51G2 (C184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365066	NM_001005238.2(OR51G2):c.464G>A (p.Gly155Asp)	MMP26, OR51G2 (G155D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361323	NM_001005238.2(OR51G2):c.714G>C (p.Glu238Asp)	MMP26, OR51G2 (E238D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356397	NM_001005238.2(OR51G2):c.119A>G (p.Tyr40Cys)	MMP26, OR51G2 (Y40C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355547	NM_001005238.2(OR51G2):c.172C>T (p.Arg58Cys)	MMP26, OR51G2 (R58C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2326316	NM_001005238.2(OR51G2):c.706A>G (p.Arg236Gly)	MMP26, OR51G2 (R236G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284229	NM_001005238.2(OR51G2):c.50T>G (p.Phe17Cys)	MMP26, OR51G2 (F17C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215822	NM_001005238.2(OR51G2):c.55C>A (p.Leu19Met)	MMP26, OR51G2 (L19M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213187	NM_001005238.2(OR51G2):c.682C>T (p.Arg228Cys)	MMP26, OR51G2 (R228C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208613	NM_001005238.2(OR51G2):c.688G>A (p.Val230Met)	MMP26, OR51G2 (V230M)	Single nucleotide variant (missense variant +1 more)	not specified	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 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
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
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 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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 50