Related gene-specific medical variations for Gene (Select 143662) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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

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Links from Gene

Items: 41