OR51T1[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +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
Select item 3205870	NM_021801.5(MMP26):c.-144-106222A>G	MMP26, OR51T1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3205874	NM_021801.5(MMP26):c.-144-106192A>G	MMP26, OR51T1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2387094	NM_021801.5(MMP26):c.-144-106171A>G	MMP26, OR51T1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2531453	NM_001004759.3(OR51T1):c.23C>G (p.Thr8Ser)	MMP26, OR51T1 (T8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291898	NM_001004759.3(OR51T1):c.34T>C (p.Ser12Pro)	MMP26, OR51T1 (S12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205867	NM_001004759.3(OR51T1):c.77A>T (p.His26Leu)	MMP26, OR51T1 (H26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621378	NM_001004759.3(OR51T1):c.80T>C (p.Val27Ala)	MMP26, OR51T1 (V27A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517649	NM_001004759.3(OR51T1):c.97G>A (p.Val33Ile)	MMP26, OR51T1 (V33I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205868	NM_001004759.3(OR51T1):c.122T>G (p.Leu41Arg)	MMP26, OR51T1 (L41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205869	NM_001004759.3(OR51T1):c.133A>C (p.Ser45Arg)	MMP26, OR51T1 (S45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465755	NM_001004759.3(OR51T1):c.164G>A (p.Arg55Gln)	MMP26, OR51T1 (R55Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217008	NM_001004759.3(OR51T1):c.169C>T (p.Leu57Phe)	MMP26, OR51T1 (L57F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559316	NM_001004759.3(OR51T1):c.181A>G (p.Met61Val)	MMP26, OR51T1 (M61V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600206	NM_001004759.3(OR51T1):c.232A>G (p.Thr78Ala)	MMP26, OR51T1 (T78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205871	NM_001004759.3(OR51T1):c.254G>C (p.Gly85Ala)	MMP26, OR51T1 (G85A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619255	NM_001004759.3(OR51T1):c.338A>G (p.Glu113Gly)	MMP26, OR51T1 (E113G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615697	NM_001004759.3(OR51T1):c.338A>C (p.Glu113Ala)	MMP26, OR51T1 (E113A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205872	NM_001004759.3(OR51T1):c.370C>T (p.Arg124Cys)	MMP26, OR51T1 (R124C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205873	NM_001004759.3(OR51T1):c.395T>G (p.Leu132Arg)	MMP26, OR51T1 (L132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278427	NM_001004759.3(OR51T1):c.436A>G (p.Ile146Val)	MMP26, OR51T1 (I146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541867	NM_001004759.3(OR51T1):c.674G>A (p.Arg225His)	MMP26, OR51T1 (R225H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205876	NM_001004759.3(OR51T1):c.763G>A (p.Val255Met)	MMP26, OR51T1 (V255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205877	NM_001004759.3(OR51T1):c.766C>T (p.Pro256Ser)	MMP26, OR51T1 (P256S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205878	NM_001004759.3(OR51T1):c.790C>A (p.His264Asn)	MMP26, OR51T1 (H264N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282261	NM_001004759.3(OR51T1):c.884G>T (p.Ser295Ile)	MMP26, OR51T1 (S295I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399253	NM_001004759.3(OR51T1):c.905G>A (p.Arg302His)	MMP26, OR51T1 (R302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457290	NM_001004759.3(OR51T1):c.955G>C (p.Val319Leu)	MMP26, OR51T1 (V319L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205866	NM_001004759.3(OR51T1):c.961G>A (p.Gly321Ser)	MMP26, OR51T1 (G321S)	Single nucleotide variant (missense variant +1 more)	not specified	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 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	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
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 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +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	RASSF10, RASSF7 +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 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	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	B4GALNT4, BET1L +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: 51