EPC1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 2302017	NM_001272004.3(EPC1):c.2308G>A (p.Ala770Thr)	EPC1 (A699T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371650	NM_001272004.3(EPC1):c.2189A>G (p.Asn730Ser)	EPC1 (N663S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316073	NM_001272004.3(EPC1):c.2170A>T (p.Thr724Ser)	EPC1 (T747S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278604	NM_001272004.3(EPC1):c.2078G>A (p.Gly693Asp)	EPC1 (G643D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352302	NM_001272004.3(EPC1):c.2039C>T (p.Thr680Ile)	EPC1 (T680I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392347	NM_001272004.3(EPC1):c.1990G>A (p.Val664Ile)	EPC1 (V597I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210185	NM_001272004.3(EPC1):c.1966G>A (p.Val656Met)	EPC1 (V679M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459300	NM_001272004.3(EPC1):c.1863+114C>T	EPC1 (R583C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213380	NM_001272004.3(EPC1):c.1810G>A (p.Ala604Thr)	EPC1 (A533T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3337081	NM_001272004.3(EPC1):c.1705del (p.Ser569fs)	EPC1 (S498fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2314750	NM_001272004.3(EPC1):c.1670G>A (p.Gly557Glu)	EPC1 (G486E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608565	NM_001272004.3(EPC1):c.1544G>A (p.Ser515Asn)	EPC1 (S515N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471322	NM_001272004.3(EPC1):c.1496A>G (p.Asn499Ser)	EPC1 (N499S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404291	NM_001272004.3(EPC1):c.1455G>A (p.Met485Ile)	EPC1 (M414I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612385	NM_001272004.3(EPC1):c.1433T>G (p.Phe478Cys)	EPC1 (F428C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275798	NM_001272004.3(EPC1):c.1381C>T (p.Arg461Cys)	EPC1 (R390C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305096	NM_001272004.3(EPC1):c.1267T>C (p.Trp423Arg)	EPC1 (W352R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216323	NM_001272004.3(EPC1):c.1206T>A (p.Phe402Leu)	EPC1 (F352L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533623	NM_001272004.3(EPC1):c.1135G>A (p.Glu379Lys)	EPC1 (E308K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275800	NM_001272004.3(EPC1):c.1006C>T (p.Arg336Trp)	EPC1 (R265W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518253	NM_001272004.3(EPC1):c.907C>G (p.Pro303Ala)	EPC1 (P253A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089462	NM_001272004.3(EPC1):c.905T>C (p.Ile302Thr)	EPC1 (I231T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596157	NM_001272004.3(EPC1):c.901A>G (p.Ile301Val)	EPC1 (I251V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089461	NM_001272004.3(EPC1):c.877A>G (p.Met293Val)	EPC1 (M293V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3275796	NM_001272004.3(EPC1):c.848T>C (p.Met283Thr)	EPC1 (M233T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275797	NM_001272004.3(EPC1):c.827G>A (p.Gly276Asp)	EPC1 (G226D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089460	NM_001272004.3(EPC1):c.808G>A (p.Glu270Lys)	EPC1 (E220K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624401	NM_001272004.3(EPC1):c.652A>G (p.Met218Val)	EPC1 (M168V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475228	NM_001272004.3(EPC1):c.343T>C (p.Tyr115His)	EPC1 (Y65H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608406	NM_001272004.3(EPC1):c.47C>T (p.Pro16Leu)	EPC1 (P16L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685372	GRCh37/hg19 10p11.22-11.21(chr10:32617120-36913676)x1	CCDC7, CCNY +8 more	Copy number loss	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1328108	GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1	ARHGAP12, CCDC7 +9 more	Copy number loss	not provided	GPathogenic
Select item 815330	GRCh37/hg19 10p11.22(chr10:32602050-32959065)x3	CCDC7, EPC1	Copy number gain	not provided	GUncertain significance
Select item 563765	GRCh37/hg19 10p11.22(chr10:31425682-32599180)x1	KIF5B, ZEB1 +2 more	Copy number loss	not provided	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 221475	GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3	CREM, CUL2 +10 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 46