EFCAB7[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +275 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +252 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 2498184	NC_000001.11:g.63395673_63749318del	ALG6, DLEU2L +9 more	Deletion	Craniosynostosis syndrome	GUncertain significance
Select item 2352699	NM_032437.4(EFCAB7):c.22G>A (p.Asp8Asn)	EFCAB7, ITGB3BP (D8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466290	NM_032437.4(EFCAB7):c.25G>A (p.Ala9Thr)	EFCAB7, ITGB3BP (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513624	NM_032437.4(EFCAB7):c.52C>T (p.Pro18Ser)	EFCAB7, ITGB3BP (P18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395395	NM_032437.4(EFCAB7):c.175C>A (p.Gln59Lys)	EFCAB7, ITGB3BP (Q59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328764	NM_032437.4(EFCAB7):c.209A>G (p.Asn70Ser)	EFCAB7 (N70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607525	NM_032437.4(EFCAB7):c.446T>G (p.Leu149Trp)	EFCAB7 (L149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087500	NM_032437.4(EFCAB7):c.484A>G (p.Lys162Glu)	EFCAB7 (K162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720628	NM_032437.4(EFCAB7):c.556A>G (p.Ser186Gly)	EFCAB7 (S186G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3087501	NM_032437.4(EFCAB7):c.712A>G (p.Thr238Ala)	EFCAB7 (T238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087502	NM_032437.4(EFCAB7):c.770G>A (p.Arg257Gln)	EFCAB7 (R257Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2443321	NM_032437.4(EFCAB7):c.830del (p.Gly277fs)	EFCAB7 (G277fs)	Deletion (frameshift variant)	Postaxial polydactyly	GUncertain significance
Select item 2383891	NM_032437.4(EFCAB7):c.836T>G (p.Phe279Cys)	EFCAB7 (F279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087496	NM_032437.4(EFCAB7):c.1039G>A (p.Glu347Lys)	EFCAB7 (E347K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524515	NM_032437.4(EFCAB7):c.1238A>C (p.Glu413Ala)	EFCAB7 (E413A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443322	NM_032437.4(EFCAB7):c.1350_1351del	EFCAB7	Microsatellite (splice acceptor variant)	Postaxial polydactyly	GUncertain significance
Select item 3087497	NM_032437.4(EFCAB7):c.1363A>G (p.Lys455Glu)	EFCAB7 (K455E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518560	NM_032437.4(EFCAB7):c.1415C>T (p.Ala472Val)	EFCAB7 (A472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351432	NM_032437.4(EFCAB7):c.1423C>G (p.Arg475Gly)	EFCAB7 (R475G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087498	NM_032437.4(EFCAB7):c.1469G>A (p.Gly490Asp)	EFCAB7 (G490D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247748	NM_032437.4(EFCAB7):c.1532A>C (p.Lys511Thr)	EFCAB7 (K511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378048	NM_032437.4(EFCAB7):c.1559A>G (p.His520Arg)	EFCAB7 (H520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237532	NM_032437.4(EFCAB7):c.1603T>C (p.Ser535Pro)	EFCAB7 (S535P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395175	NM_032437.4(EFCAB7):c.1609C>A (p.Leu537Ile)	EFCAB7 (L537I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720987	NM_032437.4(EFCAB7):c.1713T>G (p.Asp571Glu)	EFCAB7 (D571E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2226938	NM_032437.4(EFCAB7):c.1877C>T (p.Ser626Phe)	EFCAB7 (S626F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3063221	GRCh37/hg19 1p31.3(chr1:63047044-64769540)x1	ALG6, ANGPTL3 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3063010	GRCh37/hg19 1p31.3(chr1:63885043-65190254)x1	ALG6, CACHD1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 979898	GRCh37/hg19 1p31.3(chr1:64002855-64062235)x1	EFCAB7, PGM1	Copy number loss	not provided	GUncertain significance
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565104	GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1	CACHD1, ANGPTL3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565103	GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3	KANK4, EFCAB7 +16 more	Copy number gain	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 443569	GRCh37/hg19 1p31.3(chr1:63322607-64040590)x3	ALG6, ATG4C +3 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 52