ClinVar for Gene (Select 130062841) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2648864	NM_194460.3(RNF126):c.57G>A (p.Glu19=)	LOC130062841, RNF126	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619207	NM_194460.3(RNF126):c.22C>G (p.Pro8Ala)	LOC130062841, RNF126 (P8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545226	NM_194460.3(RNF126):c.20A>G (p.His7Arg)	LOC130062841, RNF126 (H7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483513	NM_194460.3(RNF126):c.50C>A (p.Ser17Tyr)	LOC130062841, RNF126 (S17Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic