ClinVar for Gene (Select 54869) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3089949	NM_133180.3(EPS8L1):c.763G>A (p.Glu255Lys)	EPS8L1 (E128K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089948	NM_133180.3(EPS8L1):c.736G>C (p.Gly246Arg)	EPS8L1 (G119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089947	NM_133180.3(EPS8L1):c.551C>G (p.Ala184Gly)	EPS8L1 (A184G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089946	NM_133180.3(EPS8L1):c.500C>T (p.Ala167Val)	EPS8L1 (A167V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089945	NM_133180.3(EPS8L1):c.238G>T (p.Val80Leu)	EPS8L1 (V80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089944	NM_133180.3(EPS8L1):c.2036A>G (p.Glu679Gly)	EPS8L1 (E552G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089943	NM_133180.3(EPS8L1):c.2011G>A (p.Glu671Lys)	EPS8L1 (E544K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089941	NM_133180.3(EPS8L1):c.1978A>C (p.Thr660Pro)	EPS8L1 (T533P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089940	NM_133180.3(EPS8L1):c.1961A>G (p.Asp654Gly)	EPS8L1 (D527G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089939	NM_133180.3(EPS8L1):c.1855G>A (p.Ala619Thr)	EPS8L1 (A492T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089938	NM_133180.3(EPS8L1):c.176C>G (p.Ser59Cys)	EPS8L1 (S59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089937	NM_133180.3(EPS8L1):c.1672C>T (p.Pro558Ser)	EPS8L1 (P558S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089936	NM_133180.3(EPS8L1):c.158A>G (p.His53Arg)	EPS8L1 (H53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089935	NM_133180.3(EPS8L1):c.1586A>G (p.Tyr529Cys)	EPS8L1 (Y529C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089934	NM_133180.3(EPS8L1):c.1475G>C (p.Arg492Pro)	EPS8L1 (R365P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089932	NM_133180.3(EPS8L1):c.1424A>T (p.Glu475Val)	EPS8L1 (E348V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089931	NM_133180.3(EPS8L1):c.137T>C (p.Leu46Pro)	EPS8L1 (L46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089930	NM_133180.3(EPS8L1):c.1343G>A (p.Arg448Gln)	EPS8L1 (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089929	NM_133180.3(EPS8L1):c.1285A>T (p.Thr429Ser)	EPS8L1 (T429S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089928	NM_133180.3(EPS8L1):c.1243C>T (p.Pro415Ser)	EPS8L1 (P288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089927	NM_133180.3(EPS8L1):c.1177C>T (p.Leu393Phe)	EPS8L1 (L266F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2622617	NM_133180.3(EPS8L1):c.932C>T (p.Pro311Leu)	EPS8L1 (P311L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610191	NM_133180.3(EPS8L1):c.1249A>G (p.Arg417Gly)	EPS8L1 (R417G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605160	NM_133180.3(EPS8L1):c.515C>T (p.Ala172Val)	EPS8L1 (A172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601858	NM_133180.3(EPS8L1):c.1535G>C (p.Arg512Pro)	EPS8L1 (R512P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570109	NM_133180.3(EPS8L1):c.1712C>A (p.Pro571His)	EPS8L1 (P571H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555820	NM_133180.3(EPS8L1):c.1646G>A (p.Ser549Asn)	EPS8L1 (S422N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545557	NM_133180.3(EPS8L1):c.389C>T (p.Ala130Val)	EPS8L1 (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541969	NM_133180.3(EPS8L1):c.1564G>A (p.Gly522Arg)	EPS8L1 (G395R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538825	NM_133180.3(EPS8L1):c.1285A>G (p.Thr429Ala)	EPS8L1 (T302A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536950	NM_133180.3(EPS8L1):c.1997C>T (p.Ser666Leu)	EPS8L1 (S666L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536285	NM_133180.3(EPS8L1):c.262C>T (p.Leu88Phe)	EPS8L1 (L88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523295	NM_133180.3(EPS8L1):c.97G>A (p.Val33Ile)	EPS8L1 (V33I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519151	NM_133180.3(EPS8L1):c.19C>T (p.Pro7Ser)	EPS8L1 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516027	NM_133180.3(EPS8L1):c.583T>C (p.Ser195Pro)	EPS8L1 (S195P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513688	NM_133180.3(EPS8L1):c.437T>C (p.Leu146Pro)	EPS8L1 (L19P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490227	NM_133180.3(EPS8L1):c.826C>G (p.Gln276Glu)	EPS8L1 (Q149E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478678	NM_133180.3(EPS8L1):c.935C>T (p.Ser312Leu)	EPS8L1 (S185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476323	NM_133180.3(EPS8L1):c.119A>C (p.His40Pro)	EPS8L1 (H40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458817	NM_133180.3(EPS8L1):c.1933G>A (p.Ala645Thr)	EPS8L1 (A645T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411394	NM_133180.3(EPS8L1):c.1841C>T (p.Ser614Leu)	EPS8L1 (S487L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408912	NM_133180.3(EPS8L1):c.468C>A (p.His156Gln)	EPS8L1 (H156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407309	NM_133180.3(EPS8L1):c.1372G>A (p.Val458Ile)	EPS8L1 (V331I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384122	NM_133180.3(EPS8L1):c.1018C>T (p.Pro340Ser)	EPS8L1 (P213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377210	NM_133180.3(EPS8L1):c.632G>T (p.Arg211Leu)	EPS8L1 (R211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371670	NM_133180.3(EPS8L1):c.1703T>C (p.Leu568Pro)	EPS8L1 (L441P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369930	NM_133180.3(EPS8L1):c.478T>G (p.Ser160Ala)	EPS8L1 (S160A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342098	NM_133180.3(EPS8L1):c.416G>T (p.Gly139Val)	EPS8L1 (G139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337289	NM_133180.3(EPS8L1):c.187G>A (p.Ala63Thr)	EPS8L1 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330225	NM_133180.3(EPS8L1):c.1867C>T (p.Pro623Ser)	EPS8L1 (P496S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326093	NM_133180.3(EPS8L1):c.97G>T (p.Val33Leu)	EPS8L1 (V33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321380	NM_133180.3(EPS8L1):c.1492T>C (p.Ser498Pro)	EPS8L1 (S371P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311970	NM_133180.3(EPS8L1):c.592G>C (p.Ala198Pro)	EPS8L1 (A198P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306994	NM_133180.3(EPS8L1):c.1868C>T (p.Pro623Leu)	EPS8L1 (P623L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306569	NM_133180.3(EPS8L1):c.467A>G (p.His156Arg)	EPS8L1 (H156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292184	NM_133180.3(EPS8L1):c.1375G>A (p.Ala459Thr)	EPS8L1 (A459T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289591	NM_133180.3(EPS8L1):c.584C>T (p.Ser195Leu)	EPS8L1 (S68L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281938	NM_133180.3(EPS8L1):c.1994T>C (p.Phe665Ser)	EPS8L1 (F538S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280160	NM_133180.3(EPS8L1):c.992C>T (p.Ala331Val)	EPS8L1 (A204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277260	NM_133180.3(EPS8L1):c.976G>C (p.Ala326Pro)	EPS8L1 (A326P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252481	NM_133180.3(EPS8L1):c.1624C>T (p.His542Tyr)	EPS8L1 (H542Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242666	NM_133180.3(EPS8L1):c.1256A>C (p.Glu419Ala)	EPS8L1 (E292A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236716	NM_133180.3(EPS8L1):c.734G>A (p.Arg245Gln)	EPS8L1 (R118Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233765	NM_133180.3(EPS8L1):c.595G>C (p.Val199Leu)	EPS8L1 (V199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226760	NM_133180.3(EPS8L1):c.265G>A (p.Asp89Asn)	EPS8L1 (D89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221102	NM_133180.3(EPS8L1):c.128C>T (p.Thr43Met)	EPS8L1 (T43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215428	NM_133180.3(EPS8L1):c.2108T>C (p.Leu703Pro)	EPS8L1 (L703P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214305	NM_133180.3(EPS8L1):c.431C>T (p.Ala144Val)	EPS8L1 (A144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213328	NM_133180.3(EPS8L1):c.218C>T (p.Ala73Val)	EPS8L1 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212684	NM_133180.3(EPS8L1):c.2075C>T (p.Ser692Leu)	EPS8L1 (S565L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204866	NM_133180.3(EPS8L1):c.458G>C (p.Gly153Ala)	EPS8L1 (G26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	TSEN34, TTYH1 +51 more	Duplication	not provided	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	BRSK1, CCDC106 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 688449	GRCh37/hg19 19q13.42(chr19:55508564-55665523)x3	EPS8L1, GP6 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 395080	GRCh37/hg19 19q13.42(chr19:55574798-55602281)x3	EPS8L1, PPP1R12C +1 more	Copy number gain	See cases	GLikely benign
Select item 394874	GRCh37/hg19 19q13.42(chr19:55587736-55602281)x3	EPS8L1, PPP1R12C	Copy number gain	See cases	GBenign
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 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: 100