"GeneDx"[submitter] AND "MUC5B"[gene] - 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 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
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 163990	NM_002458.3(MUC5B):c.101A>G (p.Glu34Gly)	MUC5B (E34G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 1282609	NM_002458.3(MUC5B):c.462-64G>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290452	NM_002458.3(MUC5B):c.577-47T>G	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
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 178783	NM_002458.3(MUC5B):c.723G>A (p.Thr241=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided +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 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 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 1262521	NM_002458.3(MUC5B):c.1471-119T>C	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163995	NM_002458.3(MUC5B):c.1596G>C (p.Leu532=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1289332	NM_002458.3(MUC5B):c.1679-90C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163996	NM_002458.3(MUC5B):c.1843+11C>G	MUC5B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1266859	NM_002458.3(MUC5B):c.1939-18T>C	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243110	NM_002458.3(MUC5B):c.2065+38G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234401	NM_002458.3(MUC5B):c.2321+101T>C	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228139	NM_002458.3(MUC5B):c.2322-83G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163998	NM_002458.3(MUC5B):c.2493C>T (p.Cys831=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1230012	NM_002458.3(MUC5B):c.2631-198G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289456	NM_002458.3(MUC5B):c.2881-157G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243917	NM_002458.3(MUC5B):c.3057+75T>C	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291730	NM_002458.3(MUC5B):c.3058-180G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245155	NM_002458.3(MUC5B):c.3058-94C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251061	NM_002458.3(MUC5B):c.3970+35C>T	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296796	NM_002458.3(MUC5B):c.4202G>A (p.Arg1401His)	MUC5B (R1401H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1232498	NM_002458.3(MUC5B):c.4415C>T (p.Pro1472Leu)	MUC5B (P1472L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 196682	NM_002458.3(MUC5B):c.4797T>C (p.Ser1599=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1249409	NM_002458.3(MUC5B):c.5413G>A (p.Gly1805Ser)	MUC5B, MUC5B-AS1 (G1805S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1230323	NM_002458.3(MUC5B):c.5577C>T (p.Asn1859=)	MUC5B, MUC5B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 403131	NM_002458.3(MUC5B):c.5666C>T (p.Pro1889Leu)	MUC5B, MUC5B-AS1 (P1889L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 403133	NM_002458.3(MUC5B):c.6073G>A (p.Ala2025Thr)	MUC5B, MUC5B-AS1 (A2025T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403134	NM_002458.3(MUC5B):c.6182C>T (p.Ala2061Val)	MUC5B, MUC5B-AS1 (A2061V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403135	NM_002458.3(MUC5B):c.6252A>G (p.Thr2084=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403136	NM_002458.3(MUC5B):c.6521A>G (p.Asn2174Ser)	MUC5B, MUC5B-AS1 (N2174S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403137	NM_002458.3(MUC5B):c.6581T>C (p.Met2194Thr)	MUC5B, MUC5B-AS1 (M2194T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403138	NM_002458.3(MUC5B):c.6600A>G (p.Arg2200=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403139	NM_002458.3(MUC5B):c.6632G>C (p.Arg2211Pro)	MUC5B, MUC5B-AS1 (R2211P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1241245	NM_002458.3(MUC5B):c.6698T>G (p.Val2233Gly)	MUC5B, MUC5B-AS1 (V2233G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 403140	NM_002458.3(MUC5B):c.6713T>C (p.Leu2238Pro)	MUC5B, MUC5B-AS1 (L2238P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403141	NM_002458.3(MUC5B):c.6780A>G (p.Arg2260=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403142	NM_002458.3(MUC5B):c.6855G>A (p.Thr2285=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1261691	NM_002458.3(MUC5B):c.6997C>T (p.Pro2333Ser)	MUC5B, MUC5B-AS1 (P2333S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1249240	NM_002458.3(MUC5B):c.7312G>A (p.Glu2438Lys)	MUC5B, MUC5B-AS1 (E2438K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 403143	NM_002458.3(MUC5B):c.7676C>T (p.Thr2559Met)	MUC5B, MUC5B-AS1 (T2559M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403145	NM_002458.3(MUC5B):c.7877C>G (p.Thr2626Arg)	MUC5B-AS1, MUC5B (T2626R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403146	NM_002458.3(MUC5B):c.8489C>T (p.Pro2830Leu)	MUC5B, MUC5B-AS1 (P2830L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403147	NM_002458.3(MUC5B):c.8586A>C (p.Pro2862=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403148	NM_002458.3(MUC5B):c.8606T>C (p.Met2869Thr)	MUC5B, MUC5B-AS1 (M2869T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1237870	NM_002458.3(MUC5B):c.8668C>T (p.Pro2890Ser)	MUC5B, MUC5B-AS1 (P2890S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 403150	NM_002458.3(MUC5B):c.9215T>C (p.Phe3072Ser)	MUC5B, MUC5B-AS1 (F3072S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1252903	NM_002458.3(MUC5B):c.9365T>C (p.Met3122Thr)	MUC5B, MUC5B-AS1 (M3122T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245962	NM_002458.3(MUC5B):c.9392C>T (p.Thr3131Met)	MUC5B, MUC5B-AS1 (T3131M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 403151	NM_002458.3(MUC5B):c.9452C>T (p.Thr3151Met)	MUC5B, MUC5B-AS1 (T3151M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403158	NM_002458.3(MUC5B):c.9807T>C (p.Ser3269=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403159	NM_002458.3(MUC5B):c.9850A>G (p.Thr3284Ala)	MUC5B, MUC5B-AS1 (T3284A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403160	NM_002458.3(MUC5B):c.9954C>T (p.Ala3318=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1287717	NM_002458.3(MUC5B):c.10371G>A (p.Arg3457=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 403161	NM_002458.3(MUC5B):c.10403G>C (p.Arg3468Pro)	MUC5B, MUC5B-AS1 (R3468P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403162	NM_002458.3(MUC5B):c.10498A>G (p.Ser3500Gly)	MUC5B, MUC5B-AS1 (S3500G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403163	NM_002458.3(MUC5B):c.10527G>T (p.Leu3509=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403164	NM_002458.3(MUC5B):c.10572T>C (p.Ser3524=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403165	NM_002458.3(MUC5B):c.10821A>C (p.Ala3607=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403166	NM_002458.3(MUC5B):c.10845C>T (p.Leu3615=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403167	NM_002458.3(MUC5B):c.11105C>T (p.Thr3702Met)	MUC5B, MUC5B-AS1 (T3702M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1296794	NM_002458.3(MUC5B):c.11288C>T (p.Thr3763Ile)	MUC5B, MUC5B-AS1 (T3763I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 403168	NM_002458.3(MUC5B):c.11517C>T (p.Thr3839=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403169	NM_002458.3(MUC5B):c.11562T>C (p.Ser3854=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403170	NM_002458.3(MUC5B):c.11597C>T (p.Pro3866Leu)	MUC5B, MUC5B-AS1 (P3866L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403171	NM_002458.3(MUC5B):c.11725G>A (p.Val3909Ile)	MUC5B, MUC5B-AS1 (V3909I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1265000	NM_002458.3(MUC5B):c.12272C>G (p.Thr4091Arg)	MUC5B, MUC5B-AS1 (T4091R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 403172	NM_002458.3(MUC5B):c.12537G>C (p.Gln4179His)	MUC5B, MUC5B-AS1 (Q4179H)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +2 more	GBenign
Select item 403174	NM_002458.3(MUC5B):c.13211C>G (p.Ala4404Gly)	MUC5B (A4404G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403175	NM_002458.3(MUC5B):c.13319C>T (p.Pro4440Leu)	MUC5B (P4440L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403176	NM_002458.3(MUC5B):c.13398G>A (p.Thr4466=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1273659	NM_002458.3(MUC5B):c.13929G>A (p.Pro4643=)	MUC5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 403179	NM_002458.3(MUC5B):c.14116A>C (p.Thr4706Pro)	MUC5B (T4706P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1249243	NM_002458.3(MUC5B):c.14135C>T (p.Thr4712Met)	MUC5B (T4712M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1279240	NM_002458.3(MUC5B):c.14599G>A (p.Ala4867Thr)	MUC5B (A4867T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1226013	NM_002458.3(MUC5B):c.14644A>G (p.Thr4882Ala)	MUC5B (T4882A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 403180	NM_002458.3(MUC5B):c.14748C>T (p.Phe4916=)	MUC5B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1269044	NM_002458.3(MUC5B):c.15045+79T>C	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262282	NM_002458.3(MUC5B):c.15217+278G>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249745	NM_002458.3(MUC5B):c.15218-304C>A	MUC5B	Single nucleotide variant (intron variant)	not provided	GBenign

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