ATG5[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 155190	GRCh38/hg38 6q21(chr6:105833853-106582592)x3	ATG5, CRYBG1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 155040	GRCh38/hg38 6q21(chr6:105922825-106683920)x3	ATG5, CRYBG1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59524	GRCh38/hg38 6q21(chr6:106143607-106716817)x3	ATG5, CRYBG1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 2552064	NM_004849.4(ATG5):c.679A>G (p.Ile227Val)	ATG5 (I227V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2312146	NM_004849.4(ATG5):c.559T>A (p.Phe187Ile)	ATG5 (F187I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055813	NM_004849.4(ATG5):c.444A>G (p.Lys148=)	ATG5	Single nucleotide variant (synonymous variant +2 more)	ATG5-related disorder	GBenign
Select item 730897	NM_004849.4(ATG5):c.385A>G (p.Met129Val)	ATG5 (M51V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 430932	NM_004849.4(ATG5):c.366A>T (p.Glu122Asp)	ATG5 (E122D +1 more)	Single nucleotide variant (missense variant +2 more)	Spinocerebellar ataxia, autosomal recessive 25	GPathogenic
Select item 2467725	NM_004849.4(ATG5):c.361A>G (p.Ile121Val)	ATG5 (I43V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3321384	NM_004849.4(ATG5):c.326A>G (p.Glu109Gly)	ATG5 (E31G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 789288	NM_004849.4(ATG5):c.237-8A>G	ATG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770178	NM_004849.4(ATG5):c.193A>G (p.Ile65Val)	ATG5 (I65V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3131016	NM_004849.4(ATG5):c.107A>G (p.Tyr36Cys)	ATG5 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 788412	NM_004849.4(ATG5):c.66A>G (p.Leu22=)	ATG5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 559555	NM_004849.4(ATG5):c.62C>G (p.Thr21Arg)	ATG5 (T21R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1527274	GRCh37/hg19 6q21(chr6:106602280-106903888)	ATG5	Copy number gain	not specified	GUncertain significance
Select item 1527273	GRCh37/hg19 6q21(chr6:105930050-107970442)	ATG5, BEND3 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527272	GRCh37/hg19 6q21(chr6:105550491-107378236)	ATG5, BVES +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1004592	NC_000006.11:g.(?_106756239)_(107365536_?)dup	ATG5, CRYBG1 +3 more	Duplication	not provided	GUncertain significance
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 980219	GRCh37/hg19 6q21(chr6:106330947-106730123)x3	ATG5, PRDM1	Copy number gain	not provided	GUncertain significance
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 816618	GRCh37/hg19 6q21(chr6:106638006-107421916)x3	ATG5, BEND3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 816617	GRCh37/hg19 6q21(chr6:106427169-106641115)x3	ATG5, PRDM1	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 253989	GRCh37/hg19 6q21(chr6:106281728-107019722)x3	CRYBG1, ATG5 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 38