ClinVar for Gene (Select 346606) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295528	NM_178176.4(MOGAT3):c.886C>A (p.Pro296Thr)	MOGAT3 (P228H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295527	NM_178176.4(MOGAT3):c.425G>A (p.Arg142Gln)	MOGAT3 (R142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295526	NM_178176.4(MOGAT3):c.524A>G (p.Asp175Gly)	MOGAT3 (D175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295525	NM_178176.4(MOGAT3):c.913G>A (p.Glu305Lys)	MOGAT3 (E305K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295524	NM_178176.4(MOGAT3):c.487T>C (p.Ser163Pro)	MOGAT3 (S163P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3193382	NM_178176.4(MOGAT3):c.851C>A (p.Ala284Asp)	MOGAT3 (A284D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193252	NM_178176.4(MOGAT3):c.709A>G (p.Ile237Val)	MOGAT3 (I237V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193185	NM_178176.4(MOGAT3):c.586G>A (p.Glu196Lys)	MOGAT3 (E196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193153	NM_178176.4(MOGAT3):c.580G>T (p.Ala194Ser)	MOGAT3 (A194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193068	NM_178176.4(MOGAT3):c.466G>C (p.Val156Leu)	MOGAT3 (V156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193002	NM_178176.4(MOGAT3):c.31A>G (p.Thr11Ala)	MOGAT3 (T11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192974	NM_178176.4(MOGAT3):c.261A>T (p.Arg87Ser)	MOGAT3 (R87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192832	NM_178176.4(MOGAT3):c.170T>G (p.Val57Gly)	MOGAT3 (V57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2657856	NM_178176.4(MOGAT3):c.150G>A (p.Thr50=)	MOGAT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657855	NM_178176.4(MOGAT3):c.810C>T (p.Arg270=)	MOGAT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657854	NM_178176.4(MOGAT3):c.864C>T (p.Thr288=)	MOGAT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2550678	NM_178176.4(MOGAT3):c.248G>A (p.Arg83Gln)	MOGAT3 (R83Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545303	NM_178176.4(MOGAT3):c.896A>T (p.Gln299Leu)	MOGAT3 (Q299L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2527294	NM_178176.4(MOGAT3):c.663G>T (p.Arg221Ser)	MOGAT3 (R221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472086	NM_178176.4(MOGAT3):c.149C>A (p.Thr50Lys)	MOGAT3 (T50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2391215	NM_178176.4(MOGAT3):c.550G>C (p.Gly184Arg)	MOGAT3 (G184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359858	NM_178176.4(MOGAT3):c.17C>T (p.Thr6Ile)	MOGAT3 (T6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330053	NM_178176.4(MOGAT3):c.796A>G (p.Ile266Val)	MOGAT3 (I266V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327297	NM_178176.4(MOGAT3):c.451C>G (p.Leu151Val)	MOGAT3 (L151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294083	NM_178176.4(MOGAT3):c.731C>T (p.Ala244Val)	MOGAT3 (A244V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290900	NM_178176.4(MOGAT3):c.230C>T (p.Ser77Leu)	MOGAT3 (S77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284944	NM_178176.4(MOGAT3):c.758A>C (p.Gln253Pro)	MOGAT3 (Q253P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224601	NM_178176.4(MOGAT3):c.977A>G (p.His326Arg)	MOGAT3 (H326R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2208392	NM_178176.4(MOGAT3):c.497T>C (p.Leu166Pro)	MOGAT3 (L166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208391	NM_178176.4(MOGAT3):c.175T>C (p.Tyr59His)	MOGAT3 (Y59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207437	NM_178176.4(MOGAT3):c.955C>G (p.Leu319Val)	MOGAT3 (L319V +1 more)	Single nucleotide variant (missense variant)	not specified	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 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	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 560088	Single allele	VGF, TRIM56 +5 more	Duplication	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
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 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 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 147676	GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3	AP1S1, CLDN15 +23 more	Copy number gain	See cases	GBenign
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

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Links from Gene

Items: 58