MUC6[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	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 2672428	NM_005961.3(MUC6):c.6564G>A (p.Thr2188=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641101	NM_005961.3(MUC6):c.5976C>T (p.Thr1992=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156712	NM_005961.3(MUC6):c.5911C>T (p.Pro1971Ser)	MUC6 (P1971S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2641102	NM_005961.3(MUC6):c.5760C>T (p.Tyr1920=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641103	NM_005961.3(MUC6):c.5667C>A (p.Thr1889=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641104	NM_005961.3(MUC6):c.5610C>T (p.His1870=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641105	NM_005961.3(MUC6):c.5598T>C (p.Ser1866=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641106	NM_005961.3(MUC6):c.5235C>T (p.Thr1745=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 403202	NM_005961.3(MUC6):c.4631_4633del (p.Thr1544del)	MUC6 (T1544del)	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 156711	NM_005961.3(MUC6):c.4577A>T (p.His1526Leu)	MUC6 (H1526L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2641107	NM_005961.3(MUC6):c.4527C>G (p.Thr1509=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641108	NM_005961.3(MUC6):c.4470C>G (p.Leu1490=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641109	NM_005961.3(MUC6):c.4401C>T (p.His1467=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641110	NM_005961.3(MUC6):c.4395T>A (p.Pro1465=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161643	NM_005961.3(MUC6):c.4382C>T (p.Thr1461Ile)	MUC6 (T1461I)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2641111	NM_005961.3(MUC6):c.2986-8G>A	MUC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641112	NM_005961.3(MUC6):c.2808C>T (p.Ser936=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641113	NM_005961.3(MUC6):c.2097C>T (p.Asp699=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681418	NM_005961.3(MUC6):c.213C>T (p.Phe71=)	MUC6	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2641114	NM_005961.3(MUC6):c.204C>T (p.Asn68=)	MUC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1341109	GRCh37/hg19 11p15.5(chr11:648556-1021236)x3	AP2A2, CD151 +15 more	Copy number gain	not provided	GUncertain significance
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 689247	GRCh37/hg19 11p15.5(chr11:975731-1061718)x3	AP2A2, MUC6	Copy number gain	not provided	GUncertain significance
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 221388	GRCh37/hg19 11p15.5(chr11:850336-1491561)x1	AP2A2, BRSK2 +8 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221343	Single allele	BRSK2, CHID1 +17 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57