ATG4D[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 2206922	NM_032885.6(ATG4D):c.34C>T (p.Arg12Trp)	ATG4D, LOC130063512 (R12W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3321351	NM_032885.6(ATG4D):c.64C>T (p.Arg22Trp)	ATG4D, LOC130063512 (R22W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3131011	NM_032885.6(ATG4D):c.82C>G (p.Pro28Ala)	ATG4D, LOC130063512 (P28A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2604050	NM_032885.6(ATG4D):c.85C>G (p.Arg29Gly)	ATG4D, LOC130063512 (R29G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3131007	NM_032885.6(ATG4D):c.167C>T (p.Pro56Leu)	ATG4D (P56L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2601657	NM_032885.6(ATG4D):c.176C>T (p.Pro59Leu)	ATG4D (P59L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1322010	NM_032885.6(ATG4D):c.266G>A (p.Ser89Asn)	ATG4D (S26N +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 2210352	NM_032885.6(ATG4D):c.302A>G (p.Tyr101Cys)	ATG4D (Y101C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321340	NM_032885.6(ATG4D):c.305G>C (p.Arg102Pro)	ATG4D (R39P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315363	NM_032885.6(ATG4D):c.330G>T (p.Gln110His)	ATG4D (Q110H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131008	NM_032885.6(ATG4D):c.331C>A (p.Arg111Ser)	ATG4D (R111S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310122	NM_032885.6(ATG4D):c.386C>T (p.Pro129Leu)	ATG4D (P129L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649296	NM_032885.6(ATG4D):c.462A>G (p.Ala154=)	ATG4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2390340	NM_032885.6(ATG4D):c.517G>A (p.Gly173Ser)	ATG4D (G110S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372538	NM_032885.6(ATG4D):c.526C>T (p.Pro176Ser)	ATG4D (P176S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283810	NM_032885.6(ATG4D):c.527C>T (p.Pro176Leu)	ATG4D (P176L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237486	NM_032885.6(ATG4D):c.536T>C (p.Leu179Pro)	ATG4D (L179P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3131009	NM_032885.6(ATG4D):c.578G>A (p.Arg193His)	ATG4D (R130H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330125	NM_032885.6(ATG4D):c.593G>A (p.Arg198His)	ATG4D (R135H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131010	NM_032885.6(ATG4D):c.623A>G (p.Gln208Arg)	ATG4D (Q208R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510538	NM_032885.6(ATG4D):c.629G>A (p.Arg210His)	ATG4D (R147H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614448	NM_032885.6(ATG4D):c.637C>T (p.Arg213Trp)	ATG4D (R213W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622287	NM_032885.6(ATG4D):c.691C>T (p.Arg231Trp)	ATG4D (R168W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474136	NM_032885.6(ATG4D):c.692G>A (p.Arg231Gln)	ATG4D (R168Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369190	NM_032885.6(ATG4D):c.749C>T (p.Ser250Leu)	ATG4D (S187L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784385	NM_032885.6(ATG4D):c.777C>T (p.Ala259=)	ATG4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2592843	NM_032885.6(ATG4D):c.796G>A (p.Val266Ile)	ATG4D (V266I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1322025	NM_032885.6(ATG4D):c.839A>G (p.Tyr280Cys)	ATG4D (Y217C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3321301	NM_032885.6(ATG4D):c.856C>T (p.Arg286Cys)	ATG4D (R223C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131012	NM_032885.6(ATG4D):c.872C>T (p.Pro291Leu)	ATG4D (P291L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1290655	NM_032885.6(ATG4D):c.915C>T (p.Pro305=)	ATG4D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2365661	NM_032885.6(ATG4D):c.916G>A (p.Val306Met)	ATG4D (V306M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131013	NM_032885.6(ATG4D):c.931G>A (p.Glu311Lys)	ATG4D (E248K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262015	NM_032885.6(ATG4D):c.946G>A (p.Val316Met)	ATG4D (V316M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131014	NM_032885.6(ATG4D):c.958T>G (p.Cys320Gly)	ATG4D (C320G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321330	NM_032885.6(ATG4D):c.961G>A (p.Val321Met)	ATG4D (V258M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542930	NM_032885.6(ATG4D):c.1013C>G (p.Pro338Arg)	ATG4D (P275R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1322026	NM_032885.6(ATG4D):c.1066G>A (p.Asp356Asn)	ATG4D (D293N +1 more)	Single nucleotide variant (missense variant +1 more)	ASHER	GPathogenic
Select item 3321373	NM_032885.6(ATG4D):c.1085C>T (p.Pro362Leu)	ATG4D (P362L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131003	NM_032885.6(ATG4D):c.1108G>A (p.Asp370Asn)	ATG4D (D370N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2246271	NM_032885.6(ATG4D):c.1130A>G (p.His377Arg)	ATG4D (H314R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511816	NM_032885.6(ATG4D):c.1261G>A (p.Ala421Thr)	ATG4D (A358T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555426	NM_032885.6(ATG4D):c.1270C>T (p.Arg424Trp)	ATG4D (R424W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321308	NM_032885.6(ATG4D):c.1310A>G (p.Asp437Gly)	ATG4D (D437G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801476	NM_032885.6(ATG4D):c.1310_1328del (p.Asp437fs)	ATG4D (D374fs +1 more)	Deletion (non-coding transcript variant +1 more)	See cases	GPathogenic
Select item 3131006	NM_032885.6(ATG4D):c.1342G>C (p.Ala448Pro)	ATG4D (A448P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334082	NM_032885.6(ATG4D):c.1342G>A (p.Ala448Thr)	ATG4D (A385T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321362	NM_032885.6(ATG4D):c.1378C>T (p.Leu460Phe)	ATG4D (L460F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321319	NM_032885.6(ATG4D):c.1394G>T (p.Arg465Leu)	ATG4D (R402L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2498798	GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3	ILF3, AP1M2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1526655	GRCh37/hg19 19p13.2(chr19:10584393-10938252)	MIR199A1, SLC44A2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816065	GRCh37/hg19 19p13.2(chr19:10632623-11135294)x3	AP1M2, QTRT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic

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Items: 70