LOC121852973[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	ZFR2, ANKRD24 +142 more	Copy number loss	See cases	GPathogenic
Select item 2373785	NM_139355.3(MATK):c.131C>T (p.Thr44Met)	LOC121852973, MATK (T3M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549931	NM_139355.3(MATK):c.107C>G (p.Pro36Arg)	LOC121852973, MATK (P37R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123940	NM_139355.3(MATK):c.106C>A (p.Pro36Thr)	LOC121852973, MATK (P37T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746469	NM_139355.3(MATK):c.102C>T (p.His34=)	LOC121852973, MATK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign