EFCAB11[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 2600987	NM_145231.4(EFCAB11):c.488C>T (p.Ala163Val)	EFCAB11 (A163V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244371	NM_145231.4(EFCAB11):c.430G>C (p.Asp144His)	EFCAB11 (D96H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151239	GRCh38/hg38 14q32.11(chr14:89840367-89986509)x1	EFCAB11, LOC113939941 +4 more	Copy number loss	See cases	GLikely benign
Select item 2474351	NM_145231.4(EFCAB11):c.383C>T (p.Pro128Leu)	EFCAB11 (P128L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087399	NM_145231.4(EFCAB11):c.323G>A (p.Arg108His)	EFCAB11 (R108H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087398	NM_145231.4(EFCAB11):c.322C>T (p.Arg108Cys)	EFCAB11 (R60C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468088	NM_145231.4(EFCAB11):c.285A>C (p.Glu95Asp)	EFCAB11 (E47D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274590	NM_145231.4(EFCAB11):c.260A>G (p.Lys87Arg)	EFCAB11 (K63R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368088	NM_145231.4(EFCAB11):c.232G>A (p.Gly78Arg)	EFCAB11 (G30R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457048	NM_145231.4(EFCAB11):c.229G>A (p.Glu77Lys)	EFCAB11 (E53K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616110	NM_145231.4(EFCAB11):c.109T>C (p.Tyr37His)	EFCAB11 (Y37H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274588	NM_145231.4(EFCAB11):c.88T>C (p.Cys30Arg)	EFCAB11 (C6R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379464	NM_145231.4(EFCAB11):c.68G>C (p.Trp23Ser)	EFCAB11 (W23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087400	NM_145231.4(EFCAB11):c.56A>C (p.Glu19Ala)	EFCAB11 (E19A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274591	NM_145231.4(EFCAB11):c.29C>T (p.Ser10Leu)	EFCAB11 (S10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551297	NM_145231.4(EFCAB11):c.5T>C (p.Phe2Ser)	EFCAB11 (F2S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807575	GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3	FOXN3, GALC +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526432	GRCh37/hg19 14q32.11(chr14:90369857-90500568)	EFCAB11, TDP1	Copy number loss	not specified	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 35