EFCAB3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 151771	GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1	BRIP1, EFCAB3 +39 more	Copy number loss	See cases	GLikely pathogenic
Select item 153259	GRCh38/hg38 17q23.2(chr17:62039036-62927189)x3	EFCAB3, LOC105371855 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 719782	NM_001144933.2(EFCAB3):c.34+6G>T	EFCAB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770272	NM_001144933.2(EFCAB3):c.45G>C (p.Lys15Asn)	EFCAB3 (K15N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2360205	NM_173503.4(EFCAB3):c.76G>A (p.Asp26Asn)	EFCAB3 (D26N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274616	NM_173503.4(EFCAB3):c.134G>C (p.Ser45Thr)	EFCAB3 (S97T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087425	NM_173503.4(EFCAB3):c.161A>G (p.Asp54Gly)	EFCAB3 (D106G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745055	NM_173503.4(EFCAB3):c.165C>T (p.Ala55=)	EFCAB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526760	NM_173503.4(EFCAB3):c.229G>A (p.Ala77Thr)	EFCAB3 (A129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561000	NM_173503.4(EFCAB3):c.253A>C (p.Lys85Gln)	EFCAB3 (K137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258615	NM_173503.4(EFCAB3):c.257A>G (p.His86Arg)	EFCAB3 (H138R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087426	NM_173503.4(EFCAB3):c.260A>G (p.Asp87Gly)	EFCAB3 (D139G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787599	NM_173503.4(EFCAB3):c.295C>T (p.Arg99Ter)	EFCAB3 (R99* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign/Likely benign
Select item 2352712	NM_173503.4(EFCAB3):c.301G>A (p.Gly101Arg)	EFCAB3 (G153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219763	NM_173503.4(EFCAB3):c.449C>T (p.Thr150Ile)	EFCAB3 (T150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789844	NM_173503.4(EFCAB3):c.488+2T>C	EFCAB3	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 2220749	NM_173503.4(EFCAB3):c.500G>A (p.Arg167Lys)	EFCAB3 (R167K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251537	NM_173503.4(EFCAB3):c.545C>T (p.Thr182Ile)	EFCAB3 (T234I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087427	NM_173503.4(EFCAB3):c.798G>A (p.Met266Ile)	EFCAB3 (M266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087429	NM_173503.4(EFCAB3):c.814C>G (p.Pro272Ala)	EFCAB3 (P272A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087428	NM_173503.4(EFCAB3):c.814C>A (p.Pro272Thr)	EFCAB3 (P272T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087424	NM_173503.4(EFCAB3):c.967G>A (p.Asp323Asn)	EFCAB3 (D375N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490376	NM_173503.4(EFCAB3):c.1000G>A (p.Ala334Thr)	EFCAB3 (A334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617984	NM_173503.4(EFCAB3):c.1006G>A (p.Asp336Asn)	EFCAB3 (D388N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781326	NM_173503.4(EFCAB3):c.1109C>T (p.Ser370Phe)	EFCAB3 (S370F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3063513	GRCh37/hg19 17q23.2(chr17:60052915-60457049)x3	EFCAB3, MED13	Copy number gain	not specified	GUncertain significance
Select item 1809418	GRCh37/hg19 17q23.2(chr17:60070415-60450079)x3	EFCAB3, MED13	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 564461	GRCh37/hg19 17q23.2(chr17:60073670-60450079)x3	EFCAB3, MED13	Copy number gain	not provided	GUncertain significance
Select item 564457	GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1	BCAS3, LINC02875 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 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

Search results

Items: 39