Related gene-specific medical variations for Gene (Select 10533) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3188519	NM_001128219.3(VGLL4):c.424A>G (p.Thr142Ala)	ATG7, VGLL4 (T141A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188518	NM_001128219.3(VGLL4):c.382A>G (p.Thr128Ala)	ATG7, VGLL4 (T127A +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188517	NM_001128219.3(VGLL4):c.367G>A (p.Gly123Ser)	ATG7, VGLL4 (G123S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188516	NM_001128219.3(VGLL4):c.298C>T (p.Arg100Cys)	ATG7, VGLL4 (R100C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3062739	GRCh37/hg19 3p25.3(chr3:11423303-11568144)x1	ATG7	Copy number loss	not specified	GUncertain significance
Select item 2681641	NM_001128219.3(VGLL4):c.441C>T (p.Asp147=)	ATG7, VGLL4	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
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 2532524	NM_001128219.3(VGLL4):c.357G>A (p.Met119Ile)	ATG7, VGLL4 (M118I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465398	NM_001128219.3(VGLL4):c.337C>T (p.Arg113Cys)	ATG7, VGLL4 (R27C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460958	NM_001128219.3(VGLL4):c.310C>T (p.Arg104Trp)	ATG7, VGLL4 (R39W +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 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 2355969	NM_001128219.3(VGLL4):c.322C>T (p.Arg108Cys)	ATG7, VGLL4 (R107C +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
Select item 2279729	NM_001128219.3(VGLL4):c.383C>T (p.Thr128Ile)	ATG7, VGLL4 (T122I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 753434	NM_001349232.2(ATG7):c.1827C>T (p.Asp609=)	ATG7, LOC126806603	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 151071	GRCh38/hg38 3p25.3(chr3:11377628-11541810)x1	ATG7	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 30