ATG4C[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 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	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	ANGPTL3, ATG4C +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
Select item 57304	GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3	ANGPTL3, ATG4C +44 more	Copy number gain	See cases	GUncertain significance
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 3321280	NM_032852.4(ATG4C):c.98C>G (p.Thr33Arg)	ATG4C (T33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205059	NM_032852.4(ATG4C):c.130C>A (p.Leu44Ile)	ATG4C (L44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529589	NM_032852.4(ATG4C):c.146A>C (p.His49Pro)	ATG4C (H49P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130998	NM_032852.4(ATG4C):c.178C>T (p.Pro60Ser)	ATG4C (P60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325267	NM_032852.4(ATG4C):c.199A>G (p.Ile67Val)	ATG4C (I67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286969	NM_032852.4(ATG4C):c.238C>T (p.Arg80Cys)	ATG4C (R80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130999	NM_032852.4(ATG4C):c.275G>A (p.Arg92Lys)	ATG4C (R92K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131000	NM_032852.4(ATG4C):c.351G>T (p.Gln117His)	ATG4C (Q117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370037	NM_032852.4(ATG4C):c.389G>A (p.Gly130Asp)	ATG4C (G130D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385233	NM_032852.4(ATG4C):c.411T>G (p.Asp137Glu)	ATG4C (D137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321291	NM_032852.4(ATG4C):c.578A>G (p.Asn193Ser)	ATG4C (N193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402107	NM_032852.4(ATG4C):c.590A>T (p.His197Leu)	ATG4C (H197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238786	NM_032852.4(ATG4C):c.596A>G (p.Lys199Arg)	ATG4C (K199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275621	NM_032852.4(ATG4C):c.617A>T (p.Asp206Val)	ATG4C (D206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390427	NM_032852.4(ATG4C):c.620C>T (p.Ser207Phe)	ATG4C (S207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345702	NM_032852.4(ATG4C):c.653T>C (p.Ile218Thr)	ATG4C (I218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359685	NM_032852.4(ATG4C):c.657A>C (p.Glu219Asp)	ATG4C (E219D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131001	NM_032852.4(ATG4C):c.718A>G (p.Ile240Val)	ATG4C (I240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309186	NM_032852.4(ATG4C):c.856G>A (p.Asp286Asn)	ATG4C (D286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305090	NM_032852.4(ATG4C):c.935G>T (p.Gly312Val)	ATG4C (G312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131002	NM_032852.4(ATG4C):c.980C>G (p.Pro327Arg)	ATG4C (P327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130995	NM_032852.4(ATG4C):c.1037C>T (p.Pro346Leu)	ATG4C (P346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345867	NM_032852.4(ATG4C):c.1127G>A (p.Arg376Gln)	ATG4C (R376Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130996	NM_032852.4(ATG4C):c.1145G>C (p.Cys382Ser)	ATG4C (C382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130997	NM_032852.4(ATG4C):c.1153G>A (p.Gly385Arg)	ATG4C (G385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234770	NM_032852.4(ATG4C):c.1301A>G (p.Asn434Ser)	ATG4C (N434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321270	NM_032852.4(ATG4C):c.1352G>A (p.Ser451Asn)	ATG4C (S451N)	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 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 2424083	NC_000001.10:g.(?_63090910)_(63902691_?)dup	ALG6, ATG4C +2 more	Duplication	ALG6-congenital disorder of glycosylation 1C +1 more	GUncertain significance
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 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	AGL, AGMAT +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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: 54