ATG101[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 722003	NM_021934.5(ATG101):c.24G>A (p.Leu8=)	ATG101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399729	NM_021934.5(ATG101):c.43C>T (p.Arg15Trp)	ATG101 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555045	NM_021934.5(ATG101):c.61A>T (p.Met21Leu)	ATG101 (M21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130859	NM_021934.5(ATG101):c.80C>T (p.Thr27Met)	ATG101 (T27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520418	NM_021934.5(ATG101):c.186C>A (p.Phe62Leu)	ATG101 (F62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259116	NM_021934.5(ATG101):c.197G>A (p.Arg66His)	ATG101 (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320695	NM_021934.5(ATG101):c.245A>C (p.Glu82Ala)	ATG101 (E82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331171	NM_021934.5(ATG101):c.262C>T (p.Arg88Cys)	ATG101 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328407	NM_021934.5(ATG101):c.292A>G (p.Met98Val)	ATG101 (M98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130856	NM_021934.5(ATG101):c.326G>A (p.Arg109His)	ATG101 (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527006	NM_021934.5(ATG101):c.337T>G (p.Ser113Ala)	ATG101 (S113A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320691	NM_021934.5(ATG101):c.388G>T (p.Ala130Ser)	ATG101 (A130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542542	NM_021934.5(ATG101):c.398C>T (p.Thr133Met)	ATG101 (T133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130857	NM_021934.5(ATG101):c.457A>G (p.Ile153Val)	ATG101 (I153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319106	NM_021934.5(ATG101):c.500A>G (p.Lys167Arg)	ATG101 (K167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517575	NM_021934.5(ATG101):c.548G>A (p.Arg183Gln)	ATG101 (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130858	NM_021934.5(ATG101):c.625C>T (p.Arg209Cys)	ATG101 (R209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24