ClinVar for Gene (Select 112543484) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2457272	NM_014686.5(GARRE1):c.570G>T (p.Gln190His)	GARRE1, LOC112543484 (Q190H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	LOC130064198, LOC132090533 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	FXYD7, GARRE1 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic

ClinVar