MUC5AC[gene] - ClinVar

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Items: 71

	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 2431098	NM_001304359.2(MUC5AC):c.211+43T>C	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2641162	NM_001304359.2(MUC5AC):c.285C>T (p.Asp95=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431142	NM_001304359.2(MUC5AC):c.1386+63G>T	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431092	NM_001304359.2(MUC5AC):c.2093-112C>T	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2498241	NM_001304359.2(MUC5AC):c.3601C>T (p.Arg1201Trp)	MUC5AC (R1201W)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2431127	NM_001304359.2(MUC5AC):c.3777-148T>A	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2498242	NM_001304359.2(MUC5AC):c.5459G>A (p.Arg1820Gln)	MUC5AC (R1820Q)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2431157	NM_001304359.2(MUC5AC):c.6811G>T (p.Ala2271Ser)	MUC5AC (A2271S)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431070	NM_001304359.2(MUC5AC):c.7242A>T (p.Ser2414=)	MUC5AC	Single nucleotide variant (synonymous variant)	Lung adenocarcinoma	GLikely benign
Select item 2431165	NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro)	MUC5AC (A2471P)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431160	NM_001304359.2(MUC5AC):c.9463A>T (p.Thr3155Ser)	MUC5AC (T3155S)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2498243	NM_001304359.2(MUC5AC):c.10301C>T (p.Pro3434Leu)	MUC5AC (P3434L)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2431151	NM_001304359.2(MUC5AC):c.10898C>T (p.Ala3633Val)	MUC5AC (A3633V)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2641163	NM_001304359.2(MUC5AC):c.13476T>C (p.Ala4492=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641164	NM_001304359.2(MUC5AC):c.13539C>A (p.Pro4513=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641165	NM_001304359.2(MUC5AC):c.13572T>C (p.Ala4524=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641166	NM_001304359.2(MUC5AC):c.13596C>T (p.Ala4532=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641167	NM_001304359.2(MUC5AC):c.13668T>C (p.Ala4556=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641168	NM_001304359.2(MUC5AC):c.13719C>T (p.Pro4573=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641169	NM_001304359.2(MUC5AC):c.13725C>G (p.Thr4575=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641170	NM_001304359.2(MUC5AC):c.13785C>T (p.Pro4595=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641171	NM_001304359.2(MUC5AC):c.13926A>G (p.Pro4642=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641172	NM_001304359.2(MUC5AC):c.14034C>G (p.Ala4678=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641173	NM_001304359.2(MUC5AC):c.14091T>C (p.Arg4697=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641174	NM_001304359.2(MUC5AC):c.14190C>T (p.Gly4730=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641175	NM_001304359.2(MUC5AC):c.14274C>A (p.Ala4758=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641176	NM_001304359.2(MUC5AC):c.14295G>A (p.Val4765=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431173	NM_001304359.2(MUC5AC):c.14528C>A (p.Thr4843Asn)	MUC5AC (T4843N)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431167	NM_001304359.2(MUC5AC):c.14615A>G (p.Glu4872Gly)	LOC126861112, MUC5AC (E4872G)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GUncertain significance
Select item 3234529	NM_001304359.2(MUC5AC):c.14901C>T (p.Cys4967=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641177	NM_001304359.2(MUC5AC):c.15020A>G (p.Asn5007Ser)	MUC5AC (N5007S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641178	NM_001304359.2(MUC5AC):c.15225C>T (p.Arg5075=)	MUC5AC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431141	NM_001304359.2(MUC5AC):c.15862-71G>T	MUC5AC	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	GATD1, IRF7 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	ANO9, AP2A2 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	AP2A2, BRSK2 +45 more	Duplication	Immunodeficiency 39 +1 more	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 226210	GRCh37/hg19 11p15.5(chr11:1115899-1261163)	MUC5B, MUC5AC	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 221388	GRCh37/hg19 11p15.5(chr11:850336-1491561)x1	AP2A2, BRSK2 +8 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221367	chr11:1092954..1857751 complex variant	BRSK2, CTSD +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221343	Single allele	BRSK2, CHID1 +17 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 71