ClinVar for Gene (Select 143662) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296829	NM_001135091.2(MUC15):c.1046T>A (p.Ile349Asn)	ANO3, MUC15 (I299N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3252972	NM_031418.4(ANO3):c.1415_1423dup (p.Phe474_Phe475insSerValPhe)	ANO3, MUC15	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3218973	NM_001135091.2(MUC15):c.887T>C (p.Phe296Ser)	ANO3, MUC15 (F269S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218967	NM_001135091.2(MUC15):c.808A>G (p.Ile270Val)	ANO3, MUC15 (I270V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218957	NM_001135091.2(MUC15):c.506C>T (p.Pro169Leu)	ANO3, MUC15 (P169L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218947	NM_001135091.2(MUC15):c.211A>G (p.Asn71Asp)	ANO3, MUC15 (N44D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2858419	NM_031418.4(ANO3):c.1407T>C (p.Asn469=)	ANO3, MUC15	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonic disorder	GLikely benign
Select item 2685400	GRCh37/hg19 11p14.3-14.1(chr11:25454219-27238107)x1	ANO3, BBOX1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2620157	NM_001135091.2(MUC15):c.626C>T (p.Pro209Leu)	ANO3, MUC15 (P209L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617387	NM_001135091.2(MUC15):c.923C>T (p.Pro308Leu)	ANO3, MUC15 (P281L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539754	NM_001135091.2(MUC15):c.127T>C (p.Ser43Pro)	ANO3, MUC15 (S16P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533185	NM_001135091.2(MUC15):c.805G>C (p.Ala269Pro)	ANO3, MUC15 (A242P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531360	NM_001135091.2(MUC15):c.893A>C (p.His298Pro)	ANO3, MUC15 (H271P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527518	NM_001135091.2(MUC15):c.545A>G (p.Asn182Ser)	ANO3, MUC15 (N182S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524345	NM_001135091.2(MUC15):c.221T>C (p.Ile74Thr)	ANO3, MUC15 (I47T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492376	NM_001135091.2(MUC15):c.946C>A (p.Pro316Thr)	ANO3, MUC15 (P316T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491756	NM_001135091.2(MUC15):c.287C>G (p.Ala96Gly)	ANO3, MUC15 (A69G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491139	NM_001135091.2(MUC15):c.386C>A (p.Pro129His)	ANO3, MUC15 (P129H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481435	NM_001135091.2(MUC15):c.468A>C (p.Glu156Asp)	ANO3, MUC15 (E129D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472826	NM_001135091.2(MUC15):c.236A>T (p.Glu79Val)	ANO3, MUC15 (E79V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456713	NM_001135091.2(MUC15):c.899G>A (p.Arg300Gln)	ANO3, MUC15 (R273Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426970	NC_000011.9:g.(?_26353823)_(26681991_?)dup	ANO3, MUC15	Duplication	Dystonic disorder	GUncertain significance
Select item 2326439	NM_001135091.2(MUC15):c.1069C>G (p.Leu357Val)	ANO3, MUC15 (L330V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283245	NM_001135091.2(MUC15):c.944C>A (p.Ala315Glu)	ANO3, MUC15 (A265E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251237	NM_031418.4(ANO3):c.1425T>G (p.Phe475Leu)	ANO3, MUC15 (F475L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249999	NM_001135091.2(MUC15):c.697G>C (p.Glu233Gln)	ANO3, MUC15 (E206Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247122	NM_001135091.2(MUC15):c.680G>A (p.Gly227Glu)	ANO3, MUC15 (G200E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226625	NM_001135091.2(MUC15):c.805G>T (p.Ala269Ser)	ANO3, MUC15 (A242S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1987682	NM_001135091.2(MUC15):c.*1364A>G	MUC15, ANO3	Single nucleotide variant (intron variant +1 more)	Dystonic disorder	GLikely benign
Select item 1979673	NM_001135091.2(MUC15):c.*1281C>T	ANO3, MUC15	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonic disorder	GUncertain significance
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 1694634	NM_001135091.2(MUC15):c.327C>T (p.His109=)	ANO3, MUC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1519018	NM_031418.4(ANO3):c.1437G>A (p.Met479Ile)	ANO3, MUC15 (M540I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonic disorder	GUncertain significance
Select item 1253720	NM_001135091.2(MUC15):c.1213_1214insAT	ANO3, MUC15	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1243722	NM_001135091.2(MUC15):c.*1190GT[18]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1240657	NM_001135091.2(MUC15):c.*1190GT[17]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1238462	NM_001135091.2(MUC15):c.*1190GT[19]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1235887	NM_001135091.2(MUC15):c.*1088G>A	ANO3, MUC15	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1235324	NM_001135091.2(MUC15):c.*1190GT[16]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1228643	NM_001135091.2(MUC15):c.*1190GT[21]	ANO3, MUC15	Microsatellite (3 prime UTR variant +1 more)	Dystonia 24 +1 more	GBenign
Select item 1195324	NM_001135091.2(MUC15):c.*1190GT[22]	MUC15, ANO3	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979926	GRCh37/hg19 11p14.2(chr11:26472568-26604685)x1	MUC15, ANO3	Copy number loss	not provided	GUncertain significance
Select item 815421	GRCh37/hg19 11p14.3-14.2(chr11:24481150-26700185)x1	SLC5A12, LUZP2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	ABCC8, ANO3 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	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 787905	NM_001135091.2(MUC15):c.43+8T>C	ANO3, MUC15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773244	NM_001135091.2(MUC15):c.469G>A (p.Asp157Asn)	ANO3, MUC15 (D130N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716559	NM_001135091.2(MUC15):c.632T>C (p.Ile211Thr)	ANO3, MUC15 (I211T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 696089	NM_031418.4(ANO3):c.1401C>T (p.Phe467=)	ANO3, MUC15	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonic disorder	GBenign
Select item 689302	GRCh37/hg19 11p14.2(chr11:26469479-26610375)x1	ANO3, MUC15	Copy number loss	not provided	GUncertain significance
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 686812	GRCh37/hg19 11p14.2(chr11:26141903-26675564)x3	ANO3, MUC15	Copy number gain	not provided	GUncertain significance
Select item 685919	GRCh37/hg19 11p14.2(chr11:26513747-26688739)x1	ANO3, MUC15 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 more	Copy number gain	not provided	GUncertain significance
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 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	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 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 235242	NM_001135091.2(MUC15):c.137C>G (p.Ser46Trp)	ANO3, MUC15 (S19W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 149943	GRCh38/hg38 11p14.2-14.1(chr11:26555328-27307056)x1	ANO3, BBOX1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic

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Items: 71