ATG7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 2653536	NC_000003.12:g.11271763G>A	ATG7, HRH1	Single nucleotide variant	not provided	GLikely benign
Select item 2672930	NC_000003.12:g.11272071G>A	ATG7	Single nucleotide variant	not provided	GUncertain significance
Select item 2509339	NM_001349232.2(ATG7):c.14C>T (p.Thr5Met)	ATG7 (T5M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3321435	NM_001349232.2(ATG7):c.31T>A (p.Ser11Thr)	ATG7 (S11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263293	NM_001349232.2(ATG7):c.83A>T (p.His28Leu)	ATG7 (H28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517807	NM_001349232.2(ATG7):c.102G>T (p.Lys34Asn)	ATG7 (K34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321415	NM_001349232.2(ATG7):c.103C>G (p.Leu35Val)	ATG7 (L35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388286	NM_001349232.2(ATG7):c.184C>T (p.Arg62Cys)	ATG7 (R62C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131023	NM_001349232.2(ATG7):c.201C>G (p.Phe67Leu)	ATG7 (F67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334164	NM_001349232.2(ATG7):c.224C>A (p.Pro75His)	ATG7 (P75H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283413	NM_001349232.2(ATG7):c.227C>T (p.Thr76Ile)	ATG7 (T76I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131025	NM_001349232.2(ATG7):c.233C>T (p.Ala78Val)	ATG7 (A78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3362747	NM_001349232.2(ATG7):c.280G>A (p.Glu94Lys)	ATG7 (E94K)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive 31	GUncertain significance
Select item 3346729	NM_001349232.2(ATG7):c.333+8G>C	ATG7	Single nucleotide variant (intron variant)	ATG7-related disorder	GLikely benign
Select item 3375357	NM_001349232.2(ATG7):c.339G>A (p.Trp113Ter)	ATG7 (W113*)	Single nucleotide variant (nonsense +1 more)	Spinocerebellar ataxia, autosomal recessive 31	GPathogenic
Select item 3321405	NM_001349232.2(ATG7):c.356G>C (p.Gly119Ala)	ATG7 (G119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360921	NM_001349232.2(ATG7):c.449A>G (p.Tyr150Cys)	ATG7 (Y150C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131026	NM_001349232.2(ATG7):c.491G>A (p.Gly164Glu)	ATG7 (G164E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546610	NM_001349232.2(ATG7):c.514T>C (p.Phe172Leu)	ATG7 (F172L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2653537	NM_001349232.2(ATG7):c.519A>G (p.Ser173=)	ATG7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2259668	NM_001349232.2(ATG7):c.655T>A (p.Phe219Ile)	ATG7 (F219I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589055	NM_001349232.2(ATG7):c.685A>G (p.Ile229Val)	ATG7 (I190V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2530471	NM_001349232.2(ATG7):c.712G>A (p.Ala238Thr)	ATG7 (A199T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732768	NM_001349232.2(ATG7):c.759C>T (p.Ala253=)	ATG7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1177580	NM_001349232.2(ATG7):c.782A>G (p.Gln261Arg)	ATG7 (Q261R +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive 31	GPathogenic
Select item 3131028	NM_001349232.2(ATG7):c.785C>G (p.Ser262Cys)	ATG7 (S223C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131029	NM_001349232.2(ATG7):c.806G>A (p.Arg269His)	ATG7 (R230H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321425	NM_001349232.2(ATG7):c.809A>C (p.Asp270Ala)	ATG7 (D231A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726662	NM_001349232.2(ATG7):c.873A>G (p.Glu291=)	ATG7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2328925	NM_001349232.2(ATG7):c.886C>G (p.Pro296Ala)	ATG7 (P257A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771346	NM_001349232.2(ATG7):c.890-8G>T	ATG7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 771347	NM_001349232.2(ATG7):c.890-7C>T	ATG7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3321394	NM_001349232.2(ATG7):c.895C>G (p.Pro299Ala)	ATG7 (P299A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065403	NM_001349232.2(ATG7):c.899A>T (p.Lys300Ile)	ATG7 (K261I +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive 31	GUncertain significance
Select item 734811	NM_001349232.2(ATG7):c.976A>C (p.Lys326Gln)	ATG7 (K287Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2612525	NM_001349232.2(ATG7):c.1043T>C (p.Leu348Ser)	ATG7 (L309S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343722	NM_001349232.2(ATG7):c.1090G>A (p.Gly364Ser)	ATG7 (G364S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131017	NM_001349232.2(ATG7):c.1127G>A (p.Gly376Asp)	ATG7 (G376D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131018	NM_001349232.2(ATG7):c.1147A>C (p.Thr383Pro)	ATG7 (T344P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131019	NM_001349232.2(ATG7):c.1172C>T (p.Ser391Phe)	ATG7 (S391F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220912	NM_001349232.2(ATG7):c.1186G>A (p.Val396Met)	ATG7 (V357M +2 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive 31	GUncertain significance
Select item 3131020	NM_001349232.2(ATG7):c.1223G>C (p.Gly408Ala)	ATG7 (G369A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2328351	NM_001349232.2(ATG7):c.1223G>T (p.Gly408Val)	ATG7 (G408V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240488	NM_001349232.2(ATG7):c.1226G>A (p.Gly409Asp)	ATG7 (G409D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401677	NM_001349232.2(ATG7):c.1253C>T (p.Ala418Val)	ATG7 (A379V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131021	NM_001349232.2(ATG7):c.1259G>A (p.Arg420Gln)	ATG7 (R109Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 929743	NM_001349232.2(ATG7):c.1261C>T (p.Leu421Phe)	ATG7 (L110F +2 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GUncertain significance
Select item 1677281	NM_001349232.2(ATG7):c.1277C>T (p.Pro426Leu)	ATG7 (P115L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 723948	NM_001349232.2(ATG7):c.1278C>T (p.Pro426=)	ATG7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2402849	NM_001349232.2(ATG7):c.1289C>T (p.Ala430Val)	ATG7 (A119V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285274	NM_001349232.2(ATG7):c.1301A>G (p.Asn434Ser)	ATG7 (N434S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326556	NM_001349232.2(ATG7):c.1343G>A (p.Ser448Asn)	ATG7 (S137N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409990	NM_001349232.2(ATG7):c.1363C>T (p.Arg455Cys)	ATG7 (R416C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407515	NM_001349232.2(ATG7):c.1364G>A (p.Arg455His)	ATG7 (R416H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549587	NM_001349232.2(ATG7):c.1400G>C (p.Ser467Thr)	ATG7 (S428T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677280	NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)	ATG7 (V160A +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GConflicting classifications of pathogenicity
Select item 2509398	NM_001349232.2(ATG7):c.1456G>A (p.Val486Ile)	ATG7 (V175I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067898	NM_001349232.2(ATG7):c.1478A>G (p.Lys493Arg)	ATG7 (K182R +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GUncertain significance
Select item 2611201	NM_001349232.2(ATG7):c.1480C>T (p.Leu494=)	ATG7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3067968	NM_001349232.2(ATG7):c.1532G>C (p.Gly511Ala)	ATG7 (G200A +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GUncertain significance
Select item 1177581	NM_001349232.2(ATG7):c.1532G>A (p.Gly511Asp)	ATG7 (G511D +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GPathogenic
Select item 1177582	NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro)	ATG7 (L512P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GUncertain significance
Select item 2301159	NM_001349232.2(ATG7):c.1566C>G (p.Asp522Glu)	ATG7 (D211E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726677	NM_001349232.2(ATG7):c.1588G>A (p.Ala530Thr)	ATG7 (A477T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2223937	NM_001349232.2(ATG7):c.1625A>G (p.Asn542Ser)	ATG7 (N542S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299841	NM_001349232.2(ATG7):c.1661A>G (p.Asn554Ser)	ATG7 (N501S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1177578	NM_001349232.2(ATG7):c.1727G>A (p.Arg576His)	ATG7 (R576H +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GPathogenic
Select item 2343868	NM_001349232.2(ATG7):c.1774G>A (p.Val592Ile)	ATG7 (V539I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753434	NM_001349232.2(ATG7):c.1827C>T (p.Asp609=)	ATG7, LOC126806603	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1177579	NM_001349232.2(ATG7):c.1870C>T (p.His624Tyr)	ATG7, LOC126806603 (H624Y +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 31	GPathogenic
Select item 151071	GRCh38/hg38 3p25.3(chr3:11377628-11541810)x1	ATG7	Copy number loss	See cases	GUncertain significance
Select item 1177583	NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter)	ATG7 (R659* +4 more)	Single nucleotide variant (nonsense +1 more)	Spinocerebellar ataxia, autosomal recessive 31	GPathogenic
Select item 2361453	NM_001349232.2(ATG7):c.1976G>A (p.Arg659Gln)	ATG7 (R606Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131022	NM_001349232.2(ATG7):c.1978G>A (p.Glu660Lys)	ATG7 (E349K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1177584	NM_001349232.2(ATG7):c.2080-2A>G	ATG7	Single nucleotide variant (intron variant +1 more)	Spinocerebellar ataxia, autosomal recessive 31	GPathogenic
Select item 3131024	NM_001349232.2(ATG7):c.2091G>C (p.Met697Ile)	ATG7 (M658I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188526	NM_001128219.3(VGLL4):c.855G>C (p.Met285Ile)	ATG7, VGLL4 (M195I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188525	NM_001128219.3(VGLL4):c.820C>T (p.Arg274Cys)	ATG7, VGLL4 (R184C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188524	NM_001128219.3(VGLL4):c.691G>A (p.Glu231Lys)	ATG7, VGLL4 (E166K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332029	NM_001128219.3(VGLL4):c.629C>A (p.Thr210Asn)	ATG7, VGLL4 (T120N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588672	NM_001128219.3(VGLL4):c.605G>A (p.Arg202Gln)	ATG7, VGLL4 (R116Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188523	NM_001128219.3(VGLL4):c.589G>A (p.Gly197Arg)	ATG7, VGLL4 (G111R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363655	NM_001128219.3(VGLL4):c.524C>T (p.Ser175Leu)	ATG7, VGLL4 (S175L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188521	NM_001128219.3(VGLL4):c.464C>T (p.Ser155Leu)	VGLL4, ATG7 (S69L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188520	NM_001128219.3(VGLL4):c.457G>C (p.Gly153Arg)	ATG7, VGLL4 (G152R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365733	NM_001128219.3(VGLL4):c.452C>T (p.Pro151Leu)	ATG7, VGLL4 (P145L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292683	NM_001128219.3(VGLL4):c.442G>A (p.Ala148Thr)	ATG7, VGLL4 (A142T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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