ClinVar for MedGen (Select 722057) - ClinVar - NCBI

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

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065319	NM_015386.3(COG4):c.2006C>T (p.Ala669Val)	COG4 (A527V +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	GLikely pathogenic
Select item 3065305	NM_015386.3(COG4):c.1002+1G>T	COG4	Single nucleotide variant (splice donor variant)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	GLikely pathogenic
Select item 1590864	NM_015386.3(COG4):c.811A>G (p.Ile271Val)	COG4 (I129V +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1341707	NM_015386.3(COG4):c.2026T>C (p.Tyr676His)	COG4 (Y534H +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type +1 more	GUncertain significance
Select item 1326920	NM_015386.3(COG4):c.490C>T (p.Arg164Cys)	COG4 (R160C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1179913	NM_015386.3(COG4):c.1482-25T>C	COG4	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type +2 more	GBenign
Select item 1077174	NM_015386.3(COG4):c.373C>T (p.Arg125Cys)	COG4 (R121C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 599648	NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)	COG4 (E614* +2 more)	Single nucleotide variant (nonsense +1 more)	COG4-congenital disorder of glycosylation +2 more	GPathogenic
Select item 585271	NM_015386.3(COG4):c.1546G>C (p.Gly516Arg)	COG4 (G516R +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	GPathogenic
Select item 449730	NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)	COG4 (G516R +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +3 more	GPathogenic
Select item 380088	NM_015386.3(COG4):c.845-18T>C	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 128810	NM_015386.3(COG4):c.2142G>A (p.Ser714=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 95699	NM_015386.3(COG4):c.646C>T (p.Leu216=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +3 more	GBenign
Select item 95697	NM_015386.3(COG4):c.485C>T (p.Thr162Ile)	COG4 (T162I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign