ClinVar for Gene (Select 10071) - ClinVar

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

Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3067233	NM_001164462.2(MUC12):c.12211A>T (p.Thr4071Ser)	MUC12 (T4071S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 3025383	NM_001164462.2(MUC12):c.5415A>G (p.Thr1805=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2684496	GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	AP1S1, CLDN15 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2673120	NM_001164462.2(MUC12):c.12048C>T (p.Ser4016=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657832	NM_001164462.2(MUC12):c.16005G>A (p.Val5335=)	LOC123956190, MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657831	NM_001164462.2(MUC12):c.15972C>T (p.His5324=)	LOC123956190, MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657830	NM_001164462.2(MUC12):c.14963G>T (p.Cys4988Phe)	MUC12 (C4988F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657829	NM_001164462.2(MUC12):c.14291G>A (p.Gly4764Glu)	MUC12 (G4764E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657828	NM_001164462.2(MUC12):c.14181C>T (p.Ser4727=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657827	NM_001164462.2(MUC12):c.13980C>T (p.Ser4660=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657826	NM_001164462.2(MUC12):c.13914A>G (p.Thr4638=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657825	NM_001164462.2(MUC12):c.13812G>C (p.Ala4604=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657824	NM_001164462.2(MUC12):c.13710T>C (p.Arg4570=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657823	NM_001164462.2(MUC12):c.12852A>C (p.Thr4284=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657822	NM_001164462.2(MUC12):c.12819T>A (p.Thr4273=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657821	NM_001164462.2(MUC12):c.12523T>C (p.Leu4175=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657820	NM_001164462.2(MUC12):c.12486G>A (p.Thr4162=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657819	NM_001164462.2(MUC12):c.11991C>T (p.His3997=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657818	NM_001164462.2(MUC12):c.11823C>T (p.Tyr3941=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657817	NM_001164462.2(MUC12):c.10995A>G (p.Pro3665=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657816	NM_001164462.2(MUC12):c.10473C>A (p.Ser3491=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657815	NM_001164462.2(MUC12):c.6258G>A (p.Thr2086=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657814	NM_001164462.2(MUC12):c.5211T>C (p.Arg1737=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657813	NM_001164462.2(MUC12):c.5151C>T (p.His1717=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657812	NM_001164462.2(MUC12):c.4857C>T (p.Ser1619=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657811	NM_001164462.2(MUC12):c.4824C>T (p.His1608=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657810	NM_001164462.2(MUC12):c.4521C>T (p.Phe1507=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657809	NM_001164462.2(MUC12):c.3812C>T (p.Pro1271Leu)	MUC12 (P1271L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657808	NM_001164462.2(MUC12):c.3494G>A (p.Arg1165Gln)	MUC12 (R1165Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657807	NM_001164462.2(MUC12):c.3398G>A (p.Arg1133His)	MUC12 (R1133H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657806	NM_001164462.2(MUC12):c.3369G>T (p.Leu1123=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657805	NM_001164462.2(MUC12):c.3198A>G (p.Thr1066=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657804	NM_001164462.2(MUC12):c.2325C>T (p.Asp775=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657803	NM_001164462.2(MUC12):c.2238G>A (p.Pro746=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657802	NM_001164462.2(MUC12):c.2112C>T (p.Ser704=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657801	NM_001164462.2(MUC12):c.1899A>T (p.Thr633=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657800	NM_001164462.2(MUC12):c.1842G>A (p.Ser614=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657799	NM_001164462.2(MUC12):c.1467C>G (p.Leu489=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657798	NM_001164462.2(MUC12):c.777A>G (p.Pro259=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657797	NM_001164462.2(MUC12):c.723A>C (p.Thr241=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657796	NM_001164462.2(MUC12):c.537G>A (p.Ala179=)	MUC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 403117	NM_001164462.2(MUC12):c.13704G>C (p.Leu4568Phe)	MUC12 (L4568F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403116	NM_001164462.2(MUC12):c.13695C>T (p.Ser4565=)	MUC12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 156706	NM_001164462.2(MUC12):c.8611G>A (p.Ala2871Thr)	MUC12 (A2871T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 67