ClinVar for Gene (Select 9474) - ClinVar

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

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3055813	NM_004849.4(ATG5):c.444A>G (p.Lys148=)	ATG5	Single nucleotide variant (synonymous variant +2 more)	ATG5-related disorder	GBenign
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
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 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 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 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 789288	NM_004849.4(ATG5):c.237-8A>G	ATG5	Single nucleotide variant (intron variant)	not provided	GBenign
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 770178	NM_004849.4(ATG5):c.193A>G (p.Ile65Val)	ATG5 (I65V)	Single nucleotide variant (missense variant +2 more)	not provided	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 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
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 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 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 253989	GRCh37/hg19 6q21(chr6:106281728-107019722)x3	CRYBG1, ATG5 +2 more	Copy number gain	See cases	GUncertain significance
Select item 155190	GRCh38/hg38 6q21(chr6:105833853-106582592)x3	ATG5, CRYBG1 +23 more	Copy number gain	See cases	GUncertain significance
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 155040	GRCh38/hg38 6q21(chr6:105922825-106683920)x3	ATG5, CRYBG1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
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 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 59524	GRCh38/hg38 6q21(chr6:106143607-106716817)x3	ATG5, CRYBG1 +20 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 38