ClinVar for Gene (Select 23731) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327020	NM_032012.4(TMEM245):c.578G>T (p.Trp193Leu)	LOC130002308, TMEM245 (W193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327019	NM_032012.4(TMEM245):c.1221G>C (p.Trp407Cys)	TMEM245 (W407C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327018	NM_032012.4(TMEM245):c.830T>C (p.Met277Thr)	TMEM245 (M277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327017	NM_032012.4(TMEM245):c.349A>G (p.Thr117Ala)	TMEM245 (T117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327016	NM_032012.4(TMEM245):c.550C>G (p.Arg184Gly)	LOC130002308, TMEM245 (R184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327015	NM_032012.4(TMEM245):c.420G>C (p.Glu140Asp)	TMEM245 (E140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327014	NM_032012.4(TMEM245):c.2625A>T (p.Lys875Asn)	TMEM245 (K875N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327013	NM_032012.4(TMEM245):c.71C>T (p.Pro24Leu)	LOC130002310, TMEM245 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327012	NM_032012.4(TMEM245):c.290T>C (p.Phe97Ser)	LOC130002309, TMEM245 (F97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245318	NC_000009.11:g.(?_111631395)_(111929571_?)del	TMEM245, ABITRAM +4 more	Deletion	not provided	GPathogenic
Select item 3179271	NM_032012.4(TMEM245):c.8A>G (p.Asp3Gly)	LOC130002310, TMEM245 (D3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179269	NM_032012.4(TMEM245):c.629A>G (p.Asn210Ser)	TMEM245 (N210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179268	NM_032012.4(TMEM245):c.347A>G (p.His116Arg)	TMEM245 (H116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179267	NM_032012.4(TMEM245):c.25G>A (p.Asp9Asn)	LOC130002310, TMEM245 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179266	NM_032012.4(TMEM245):c.2593C>T (p.Arg865Trp)	TMEM245 (R865W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179265	NM_032012.4(TMEM245):c.1772G>A (p.Arg591His)	TMEM245 (R591H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179264	NM_032012.4(TMEM245):c.1761G>T (p.Leu587Phe)	TMEM245 (L587F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179263	NM_032012.4(TMEM245):c.122C>T (p.Ala41Val)	LOC130002310, TMEM245 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179262	NM_032012.4(TMEM245):c.1190T>C (p.Val397Ala)	TMEM245 (V397A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179261	NM_032012.4(TMEM245):c.1016G>T (p.Arg339Met)	TMEM245 (R339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063113	GRCh37/hg19 9q31.3(chr9:111638923-112074439)x3	ABITRAM, CTNNAL1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3024932	NM_032012.4(TMEM245):c.221A>G (p.Tyr74Cys)	TMEM245 (Y74C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659407	NM_032012.4(TMEM245):c.1902G>C (p.Leu634=)	TMEM245	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622942	NM_032012.4(TMEM245):c.89G>A (p.Ser30Asn)	LOC130002310, TMEM245 (S30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611468	NM_032012.4(TMEM245):c.517G>T (p.Val173Leu)	TMEM245 (V173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599688	NM_032012.4(TMEM245):c.26A>C (p.Asp9Ala)	LOC130002310, TMEM245 (D9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562156	NM_032012.4(TMEM245):c.445C>T (p.Leu149Phe)	TMEM245 (L149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539897	NM_032012.4(TMEM245):c.1142C>G (p.Pro381Arg)	TMEM245 (P381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532030	NM_032012.4(TMEM245):c.962C>T (p.Pro321Leu)	TMEM245 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523233	NM_032012.4(TMEM245):c.832G>A (p.Ala278Thr)	TMEM245 (A278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518836	NM_032012.4(TMEM245):c.928A>G (p.Arg310Gly)	TMEM245 (R310G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512816	NM_032012.4(TMEM245):c.2482A>G (p.Ile828Val)	TMEM245 (I828V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494080	NM_032012.4(TMEM245):c.2620C>G (p.Leu874Val)	TMEM245 (L874V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493433	NM_032012.4(TMEM245):c.1471A>G (p.Met491Val)	TMEM245 (M491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492102	NM_032012.4(TMEM245):c.181C>G (p.Leu61Val)	TMEM245 (L61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485377	NM_032012.4(TMEM245):c.865A>G (p.Ile289Val)	TMEM245 (I289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412189	NM_032012.4(TMEM245):c.2326G>A (p.Ala776Thr)	LOC126860725, TMEM245 (A776T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373014	NM_032012.4(TMEM245):c.1228A>G (p.Ile410Val)	TMEM245 (I410V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330991	NM_032012.4(TMEM245):c.350C>A (p.Thr117Lys)	TMEM245 (T117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330809	NM_032012.4(TMEM245):c.413T>A (p.Leu138Gln)	TMEM245 (L138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319306	NM_032012.4(TMEM245):c.2048T>C (p.Val683Ala)	TMEM245 (V683A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318304	NM_032012.4(TMEM245):c.1741A>G (p.Arg581Gly)	TMEM245 (R581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316656	NM_032012.4(TMEM245):c.70C>T (p.Pro24Ser)	LOC130002310, TMEM245 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316655	NM_032012.4(TMEM245):c.45C>G (p.Ser15Arg)	LOC130002310, TMEM245 (S15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295792	NM_032012.4(TMEM245):c.1163A>G (p.Lys388Arg)	TMEM245 (K388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294760	NM_032012.4(TMEM245):c.977C>G (p.Pro326Arg)	TMEM245 (P326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280752	NM_032012.4(TMEM245):c.1275G>T (p.Trp425Cys)	TMEM245 (W425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273481	NM_032012.4(TMEM245):c.22A>G (p.Lys8Glu)	LOC130002310, TMEM245 (K8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272242	NM_032012.4(TMEM245):c.1238G>A (p.Ser413Asn)	TMEM245 (S413N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271105	NM_032012.4(TMEM245):c.1648G>T (p.Val550Leu)	TMEM245 (V550L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265515	NM_032012.4(TMEM245):c.1776G>C (p.Gln592His)	TMEM245 (Q592H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261699	NM_032012.4(TMEM245):c.2525C>G (p.Ala842Gly)	TMEM245 (A842G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239704	NM_032012.4(TMEM245):c.1505C>T (p.Thr502Ile)	TMEM245 (T502I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527543	GRCh37/hg19 9q31.3(chr9:111560213-111984713)	ABITRAM, ACTL7A +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1042382	NC_000009.11:g.(?_111640893)_(111929571_?)dup	ABITRAM, CTNNAL1 +4 more	Duplication	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 776439	NM_032012.4(TMEM245):c.1198C>T (p.Leu400=)	TMEM245	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685992	GRCh37/hg19 9q31.3(chr9:111640523-112087673)x3	ABITRAM, CTNNAL1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 523243	GRCh37/hg19 9q31.3(chr9:111624558-111812725)	ABITRAM, ACTL7A +4 more	Copy number gain	Profound global developmental delay +4 more	GUncertain significance
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 394021	GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3	ELP1, EPB41L4B +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 93