ClinVar for Gene (Select 119687) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3411390	NM_001004749.2(OR51A7):c.128G>A (p.Cys43Tyr)	MMP26, OR51A7 (C43Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3411388	NM_001004749.2(OR51A7):c.543T>A (p.His181Gln)	MMP26, OR51A7 (H181Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3411387	NM_001004749.2(OR51A7):c.559C>A (p.Leu187Met)	MMP26, OR51A7 (L187M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3411386	NM_001004749.2(OR51A7):c.421G>A (p.Val141Ile)	MMP26, OR51A7 (V141I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3411385	NM_001004749.2(OR51A7):c.405C>G (p.Ile135Met)	MMP26, OR51A7 (I135M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3411384	NM_001004749.2(OR51A7):c.705G>T (p.Lys235Asn)	MMP26, OR51A7 (K235N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302985	NM_001004749.2(OR51A7):c.391A>G (p.Arg131Gly)	MMP26, OR51A7 (R131G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205750	NM_001004749.2(OR51A7):c.820C>T (p.Leu274Phe)	MMP26, OR51A7 (L274F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205749	NM_001004749.2(OR51A7):c.439A>C (p.Ile147Leu)	MMP26, OR51A7 (I147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205748	NM_001004749.2(OR51A7):c.343C>T (p.Leu115Phe)	MMP26, OR51A7 (L115F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205747	NM_001004749.2(OR51A7):c.307T>G (p.Phe103Val)	MMP26, OR51A7 (F103V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205746	NM_001004749.2(OR51A7):c.249G>T (p.Arg83Ser)	MMP26, OR51A7 (R83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641536	NM_001004749.2(OR51A7):c.816G>A (p.Val272=)	MMP26, OR51A7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2628009	NM_001004749.2(OR51A7):c.64C>T (p.His22Tyr)	MMP26, OR51A7 (H22Y)	Single nucleotide variant (missense variant +1 more)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2608046	NM_001004749.2(OR51A7):c.250G>A (p.Val84Ile)	MMP26, OR51A7 (V84I)	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 2458528	NM_001004749.2(OR51A7):c.446C>G (p.Ala149Gly)	MMP26, OR51A7 (A149G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455747	NM_001004749.2(OR51A7):c.309C>A (p.Phe103Leu)	MMP26, OR51A7 (F103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407942	NM_001004749.2(OR51A7):c.461T>C (p.Leu154Pro)	MMP26, OR51A7 (L154P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406074	NM_001004749.2(OR51A7):c.668C>A (p.Thr223Asn)	MMP26, OR51A7 (T223N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396196	NM_001004749.2(OR51A7):c.120G>A (p.Met40Ile)	MMP26, OR51A7 (M40I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389216	NM_001004749.2(OR51A7):c.701T>A (p.Leu234His)	MMP26, OR51A7 (L234H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389215	NM_001004749.2(OR51A7):c.700C>A (p.Leu234Ile)	MMP26, OR51A7 (L234I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379748	NM_001004749.2(OR51A7):c.752A>G (p.Tyr251Cys)	MMP26, OR51A7 (Y251C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369810	NM_001004749.2(OR51A7):c.848C>T (p.Pro283Leu)	MMP26, OR51A7 (P283L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356946	NM_001004749.2(OR51A7):c.679A>C (p.Ile227Leu)	MMP26, OR51A7 (I227L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294420	NM_001004749.2(OR51A7):c.689T>C (p.Leu230Ser)	MMP26, OR51A7 (L230S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278985	NM_001004749.2(OR51A7):c.161C>T (p.Ser54Leu)	MMP26, OR51A7 (S54L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224740	NM_001004749.2(OR51A7):c.887G>A (p.Arg296Gln)	MMP26, OR51A7 (R296Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2208676	NM_001004749.2(OR51A7):c.425C>T (p.Ala142Val)	MMP26, OR51A7 (A142V)	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

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Links from Gene

Items: 51