ClinVar for Gene (Select 401667) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2641537	NM_001004748.1(OR51A2):c.214G>A (p.Asp72Asn)	MMP26, OR51A2 (D72N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2624290	NM_001004748.1(OR51A2):c.676G>A (p.Val226Ile)	MMP26, OR51A2 (V226I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604742	NM_001004748.1(OR51A2):c.898A>G (p.Ile300Val)	MMP26, OR51A2 (I300V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604029	NM_001004748.1(OR51A2):c.20C>T (p.Ser7Leu)	MMP26, OR51A2 (S7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601909	NM_001004748.1(OR51A2):c.659C>T (p.Thr220Ile)	MMP26, OR51A2 (T220I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2557558	NM_001004748.1(OR51A2):c.296G>C (p.Cys99Ser)	MMP26, OR51A2 (C99S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541545	NM_001004748.1(OR51A2):c.710A>G (p.Lys237Arg)	MMP26, OR51A2 (K237R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2488133	NM_001004748.1(OR51A2):c.136A>G (p.Thr46Ala)	MMP26, OR51A2 (T46A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487034	NM_001004748.1(OR51A2):c.155A>G (p.Lys52Arg)	MMP26, OR51A2 (K52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343161	NM_001004748.1(OR51A2):c.210G>T (p.Met70Ile)	OR51A2, MMP26 (M70I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333323	NM_001004748.1(OR51A2):c.791G>C (p.Arg264Pro)	OR51A2, MMP26 (R264P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312903	NM_001004748.1(OR51A2):c.459G>T (p.Lys153Asn)	OR51A2, MMP26 (K153N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301900	NM_001004748.1(OR51A2):c.634T>G (p.Phe212Val)	MMP26, OR51A2 (F212V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279217	NM_001004748.1(OR51A2):c.740G>A (p.Cys247Tyr)	MMP26, OR51A2 (C247Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +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	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980410	GRCh37/hg19 11p15.4(chr11:4970264-5225635)x1	OR51A2, OR52E2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +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	OR2AG2, OR2D2 +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	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 403274	NM_001004748.1(OR51A2):c.799G>C (p.Gly267Arg)	MMP26, OR51A2 (G267R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +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	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Links from Gene

Items: 39