727897[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 30126	NC_000011.10:g.1219991G>T	MUC5B	Single nucleotide variant	not provided +1 more	GBenign; risk factor
Select item 1225333	NC_000011.10:g.1222830G>A	MUC5B	Single nucleotide variant	not provided	GBenign
Select item 1226529	NC_000011.10:g.1222850C>G	MUC5B	Single nucleotide variant	not provided	GBenign
Select item 1274465	NC_000011.10:g.1222967G>A	MUC5B	Single nucleotide variant	not provided	GBenign
Select item 1296791	NC_000011.10:g.1222989T>C	MUC5B	Single nucleotide variant	not provided	GBenign
Select item 2641179	NM_002458.3(MUC5B):c.70+8C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163990	NM_002458.3(MUC5B):c.101A>G (p.Glu34Gly)	MUC5B (E34G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 778507	NM_002458.3(MUC5B):c.127+9C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3296978	NM_002458.3(MUC5B):c.130G>A (p.Ala44Thr)	MUC5B (A44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759460	NM_002458.3(MUC5B):c.144G>A (p.Ser48=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 163991	NM_002458.3(MUC5B):c.151C>T (p.Arg51Trp)	MUC5B (R51W)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3296957	NM_002458.3(MUC5B):c.175G>T (p.Val59Phe)	MUC5B (V59F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149556	NM_002458.3(MUC5B):c.178A>G (p.Thr60Ala)	MUC5B (T60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618980	NM_002458.3(MUC5B):c.196A>G (p.Ser66Gly)	MUC5B (S66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 505060	NM_002458.3(MUC5B):c.200-12C>T	MUC5B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2320835	NM_002458.3(MUC5B):c.211G>A (p.Ala71Thr)	MUC5B (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238003	NM_002458.3(MUC5B):c.226G>T (p.Val76Leu)	MUC5B (V76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614565	NM_002458.3(MUC5B):c.304G>A (p.Val102Met)	MUC5B (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163992	NM_002458.3(MUC5B):c.324C>T (p.Arg108=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2521845	NM_002458.3(MUC5B):c.328G>A (p.Ala110Thr)	MUC5B (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641180	NM_002458.3(MUC5B):c.356G>A (p.Arg119His)	MUC5B (R119H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2213558	NM_002458.3(MUC5B):c.391C>T (p.Arg131Cys)	MUC5B (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249756	NM_002458.3(MUC5B):c.428C>G (p.Ala143Gly)	MUC5B (A143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274398	NM_002458.3(MUC5B):c.436G>A (p.Gly146Ser)	MUC5B (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163993	NM_002458.3(MUC5B):c.442G>A (p.Val148Ile)	MUC5B (V148I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 756307	NM_002458.3(MUC5B):c.450C>T (p.Ile150=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1282609	NM_002458.3(MUC5B):c.462-64G>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720434	NM_002458.3(MUC5B):c.492C>T (p.Leu164=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3296952	NM_002458.3(MUC5B):c.532C>T (p.Arg178Trp)	MUC5B (R178W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495256	NM_002458.3(MUC5B):c.547T>C (p.Phe183Leu)	MUC5B (F183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163994	NM_002458.3(MUC5B):c.576+9G>T	MUC5B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290452	NM_002458.3(MUC5B):c.577-47T>G	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2641181	NM_002458.3(MUC5B):c.642G>A (p.Pro214=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150107	NM_002458.3(MUC5B):c.659A>G (p.Tyr220Cys)	MUC5B (Y220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1283161	NM_002458.3(MUC5B):c.667+95C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248788	NM_002458.3(MUC5B):c.667+103A>G	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3344558	NM_002458.3(MUC5B):c.670G>T (p.Ala224Ser)	MUC5B (A224S)	Single nucleotide variant (missense variant)	MUC5B-related disorder	GUncertain significance
Select item 2286836	NM_002458.3(MUC5B):c.703C>A (p.Gln235Lys)	MUC5B (Q235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178783	NM_002458.3(MUC5B):c.723G>A (p.Thr241=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 178784	NM_002458.3(MUC5B):c.757G>A (p.Gly253Ser)	MUC5B (G253S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1243572	NM_002458.3(MUC5B):c.775-258G>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289353	NM_002458.3(MUC5B):c.775-193C>G	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2224799	NM_002458.3(MUC5B):c.826G>A (p.Ala276Thr)	MUC5B (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220664	NM_002458.3(MUC5B):c.845C>T (p.Ala282Val)	MUC5B (A282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504730	NM_002458.3(MUC5B):c.845C>A (p.Ala282Glu)	MUC5B (A282E)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 1049165	NM_002458.3(MUC5B):c.854C>T (p.Ala285Val)	MUC5B (A285V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2331824	NM_002458.3(MUC5B):c.870C>A (p.Asp290Glu)	MUC5B (D290E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256937	NM_002458.3(MUC5B):c.897_898del (p.Ala300fs)	MUC5B (A300fs)	Microsatellite (frameshift variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 2333847	NM_002458.3(MUC5B):c.928G>A (p.Ala310Thr)	MUC5B (A310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150491	NM_002458.3(MUC5B):c.933C>A (p.His311Gln)	MUC5B (H311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178785	NM_002458.3(MUC5B):c.933C>T (p.His311=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2220507	NM_002458.3(MUC5B):c.934G>A (p.Ala312Thr)	MUC5B (A312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530132	NM_002458.3(MUC5B):c.941G>T (p.Gly314Val)	MUC5B (G314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296943	NM_002458.3(MUC5B):c.947C>T (p.Pro316Leu)	MUC5B (P316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641182	NM_002458.3(MUC5B):c.976C>T (p.Pro326Ser)	MUC5B (P326S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1296797	NM_002458.3(MUC5B):c.976+180G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274852	NM_002458.3(MUC5B):c.976+188A>G	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222484	NM_002458.3(MUC5B):c.977-179G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253055	NM_002458.3(MUC5B):c.977-158G>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271784	NM_002458.3(MUC5B):c.977-16A>G	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718453	NM_002458.3(MUC5B):c.977-5C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3296993	NM_002458.3(MUC5B):c.979C>T (p.Arg327Trp)	MUC5B (R327W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483649	NM_002458.3(MUC5B):c.1025G>A (p.Cys342Tyr)	MUC5B (C342Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220606	NM_002458.3(MUC5B):c.1028C>T (p.Thr343Met)	MUC5B (T343M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178786	NM_002458.3(MUC5B):c.1065C>T (p.Cys355=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1277723	NM_002458.3(MUC5B):c.1102+58C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225060	NM_002458.3(MUC5B):c.1102+78G>C	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265189	NM_002458.3(MUC5B):c.1102+154C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222298	NM_002458.3(MUC5B):c.1102+171C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243713	NM_002458.3(MUC5B):c.1103-117G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 178787	NM_002458.3(MUC5B):c.1103-11G>C	MUC5B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3296963	NM_002458.3(MUC5B):c.1106C>T (p.Thr369Met)	MUC5B (T369M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297597	NM_002458.3(MUC5B):c.1171G>A (p.Gly391Ser)	MUC5B (G391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296976	NM_002458.3(MUC5B):c.1186C>T (p.Pro396Ser)	MUC5B (P396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486051	NM_002458.3(MUC5B):c.1213A>C (p.Ser405Arg)	MUC5B (S405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540376	NM_002458.3(MUC5B):c.1223C>T (p.Thr408Ile)	MUC5B (T408I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526732	NM_002458.3(MUC5B):c.1228T>G (p.Ser410Ala)	MUC5B (S410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178788	NM_002458.3(MUC5B):c.1287C>T (p.Gly429=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3149115	NM_002458.3(MUC5B):c.1289G>A (p.Gly430Glu)	MUC5B (G430E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338492	NM_002458.3(MUC5B):c.1304C>T (p.Thr435Ile)	MUC5B (T435I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274130	NM_002458.3(MUC5B):c.1384G>A (p.Val462Met)	MUC5B (V462M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2641183	NM_002458.3(MUC5B):c.1422C>T (p.Asn474=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513356	NM_002458.3(MUC5B):c.1439C>T (p.Ala480Val)	MUC5B (A480V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 226731	NM_002458.3(MUC5B):c.1440G>A (p.Ala480=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2374446	NM_002458.3(MUC5B):c.1456G>A (p.Asp486Asn)	MUC5B (D486N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522128	NM_002458.3(MUC5B):c.1462G>A (p.Gly488Arg)	MUC5B (G488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262521	NM_002458.3(MUC5B):c.1471-119T>C	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504731	NM_002458.3(MUC5B):c.1497C>T (p.Gly499=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3149364	NM_002458.3(MUC5B):c.1513A>G (p.Ile505Val)	MUC5B (I505V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042760	NM_002458.3(MUC5B):c.1520C>T (p.Thr507Met)	MUC5B (T507M)	Single nucleotide variant (missense variant)	MUC5B-related disorder	GLikely benign

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