ClinVar for Gene (Select 83734) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320689	NM_031482.5(ATG10):c.560A>C (p.Asn187Thr)	ATG10 (N187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320688	NM_031482.5(ATG10):c.41G>A (p.Arg14His)	ATG10 (R14H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130854	NM_031482.5(ATG10):c.658C>G (p.Pro220Ala)	ATG10 (P220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130853	NM_031482.5(ATG10):c.437A>G (p.Asp146Gly)	ATG10 (D146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130852	NM_031482.5(ATG10):c.122G>A (p.Gly41Asp)	ATG10 (G41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684422	GRCh37/hg19 5q14.2(chr5:81437645-81652678)x3	ATG10, ATP6AP1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 2602847	NM_031482.5(ATG10):c.242A>C (p.Asp81Ala)	ATG10 (D81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475499	NM_031482.5(ATG10):c.212T>C (p.Met71Thr)	ATG10 (M71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461724	NM_031482.5(ATG10):c.244T>C (p.Cys82Arg)	ATG10 (C82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401980	NM_031482.5(ATG10):c.277G>A (p.Val93Met)	ATG10 (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386122	NM_031482.5(ATG10):c.328G>A (p.Val110Ile)	ATG10 (V110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370811	NM_031482.5(ATG10):c.322G>A (p.Val108Met)	ATG10 (V108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312239	NM_031482.5(ATG10):c.556G>A (p.Val186Ile)	ATG10 (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287357	NM_031482.5(ATG10):c.356A>G (p.Asp119Gly)	ATG10 (D119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340134	GRCh37/hg19 5q14.1-14.2(chr5:81100844-81742123)x3	ATG10, ATP6AP1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688638	GRCh37/hg19 5q14.1-14.2(chr5:81161104-81600197)x3	ATG10, RPS23	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 148851	GRCh38/hg38 5q14.1-14.2(chr5:81756567-82198683)x1	ATG10, LOC110121101 +4 more	Copy number loss	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23