MNT[gene] - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	See cases	GPathogenic
Select item 150607	GRCh38/hg38 17p13.3(chr17:1808796-2403389)x3	DPH1, HIC1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 149261	GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1	DPH1, HIC1 +94 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 147865	GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3	CLUH, LOC105371490 +38 more	Copy number gain	See cases	GUncertain significance
Select item 148996	GRCh38/hg38 17p13.3(chr17:2261727-2502345)x1	LOC111413025, LOC130059945 +25 more	Copy number loss	See cases	GLikely benign
Select item 151248	GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1	CCDC92B, CLUH +38 more	Copy number loss	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 2218290	NM_020310.3(MNT):c.1684G>A (p.Val562Met)	MNT (V562M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295472	NM_020310.3(MNT):c.1597G>A (p.Ala533Thr)	MNT (A533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295477	NM_020310.3(MNT):c.1595C>T (p.Thr532Met)	MNT (T532M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353819	NM_020310.3(MNT):c.1591G>C (p.Gly531Arg)	MNT (G531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730317	NM_020310.3(MNT):c.1539G>A (p.Gln513=)	MNT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2217973	NM_020310.3(MNT):c.1513G>A (p.Gly505Ser)	MNT (G505S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183861	NM_020310.3(MNT):c.1462A>G (p.Ile488Val)	MNT (I488V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624419	NM_020310.3(MNT):c.1456C>T (p.Pro486Ser)	MNT (P486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759878	NM_020310.3(MNT):c.1434G>C (p.Ala478=)	MNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3295476	NM_020310.3(MNT):c.1247C>T (p.Pro416Leu)	MNT (P416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744718	NM_020310.3(MNT):c.1245A>G (p.Pro415=)	MNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3295475	NM_020310.3(MNT):c.1183C>T (p.His395Tyr)	MNT (H395Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183805	NM_020310.3(MNT):c.1159C>T (p.His387Tyr)	MNT (H387Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601156	NM_020310.3(MNT):c.1040G>A (p.Arg347Gln)	MNT (R347Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599770	NM_020310.3(MNT):c.859C>T (p.Arg287Cys)	MNT (R287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770261	NM_020310.3(MNT):c.828G>A (p.Lys276=)	MNT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3295479	NM_020310.3(MNT):c.706C>G (p.Leu236Val)	MNT (L236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617178	NM_020310.3(MNT):c.647C>T (p.Pro216Leu)	MNT (P216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349081	NM_020310.3(MNT):c.605C>T (p.Ala202Val)	MNT (A202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295478	NM_020310.3(MNT):c.599A>G (p.Lys200Arg)	MNT (K200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184135	NM_020310.3(MNT):c.512C>T (p.Thr171Met)	MNT (T171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184090	NM_020310.3(MNT):c.422C>T (p.Pro141Leu)	MNT (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184065	NM_020310.3(MNT):c.368T>C (p.Leu123Pro)	MNT (L123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513329	NM_020310.3(MNT):c.326C>T (p.Ala109Val)	MNT (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267582	NM_020310.3(MNT):c.230C>T (p.Pro77Leu)	MNT (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295471	NM_020310.3(MNT):c.176G>A (p.Arg59His)	MNT (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473806	NM_020310.3(MNT):c.175C>T (p.Arg59Cys)	MNT (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295473	NM_020310.3(MNT):c.139G>A (p.Ala47Thr)	MNT (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183782	NM_020310.3(MNT):c.107G>A (p.Arg36Gln)	MNT (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243118	NC_000017.10:g.(?_1648982)_(2583634_?)del	DPH1, HIC1 +15 more	Deletion	not provided	GPathogenic
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063512	GRCh37/hg19 17p13.3(chr17:2264478-2570762)x3	METTL16, MNT +2 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807811	GRCh37/hg19 17p13.3(chr17:2161424-2825460)x1	CLUH, METTL16 +7 more	Copy number loss	not provided	GPathogenic
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 816556	GRCh37/hg19 17p13.3(chr17:2111786-2344649)x3	MNT, METTL16 +4 more	Copy number gain	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic
Select item 686828	GRCh37/hg19 17p13.3(chr17:2172709-2646895)x1	CLUH, METTL16 +6 more	Copy number loss	not provided	GPathogenic
Select item 635877	Single allele	METTL16, MNT +4 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	DPH1, HIC1 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 443660	GRCh37/hg19 17p13.3(chr17:800049-2390454)x1	ABR, BHLHA9 +31 more	Copy number loss	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443283	GRCh37/hg19 17p13.3(chr17:1997443-2825460)x1	CLUH, METTL16 +7 more	Copy number loss	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	ABR, BHLHA9 +43 more	Copy number loss	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442715	GRCh37/hg19 17p13.3(chr17:2213316-2901583)x3	CLUH, METTL16 +6 more	Copy number gain	See cases	GLikely pathogenic
Select item 442222	GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3	ASPA, CLUH +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394497	GRCh37/hg19 17p13.3(chr17:1936753-2901448)x1	CLUH, DPH1 +12 more	Copy number loss	See cases	GPathogenic
Select item 394439	GRCh37/hg19 17p13.3(chr17:48858-2940028)x1	NXN, OVCA2 +42 more	Copy number loss	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	ABR, ASPA +55 more	Copy number loss	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic

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Items: 96