ORMDL2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 2219682	NM_014182.5(ORMDL2):c.39C>A (p.Asn13Lys)	ORMDL2 (N13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314344	NM_014182.5(ORMDL2):c.101A>G (p.His34Arg)	ORMDL2 (H34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209202	NM_014182.5(ORMDL2):c.103A>G (p.Met35Val)	ORMDL2 (M35V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537061	NM_014182.5(ORMDL2):c.105G>A (p.Met35Ile)	ORMDL2 (M35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776899	NM_014182.5(ORMDL2):c.157A>C (p.Asn53His)	ORMDL2 (N53H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3206981	NM_014182.5(ORMDL2):c.197C>T (p.Thr66Met)	ORMDL2 (T66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265499	NM_014182.5(ORMDL2):c.296G>A (p.Arg99His)	ORMDL2 (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371698	NM_014182.5(ORMDL2):c.314C>G (p.Ser105Cys)	ORMDL2 (S105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593647	NM_014182.5(ORMDL2):c.436C>T (p.Arg146Cys)	ORMDL2 (R146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388856	NM_014182.5(ORMDL2):c.437G>A (p.Arg146His)	ORMDL2 (R146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
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