Related gene-specific medical variations for Gene (Select 25839) - ClinVar - NCBI

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Items: 16

	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 2688813	NM_015386.3(COG4):c.946A>C (p.Arg316=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2442053	NM_015386.3(COG4):c.793G>A (p.Asp265Asn)	COG4 (D123N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2440189	NM_015386.3(COG4):c.1310A>G (p.Asn437Ser)	COG4 (N295S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440188	NM_015386.3(COG4):c.202_203del (p.Leu68fs)	COG4 (L64fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2440187	NM_015386.3(COG4):c.719C>T (p.Ser240Leu)	COG4 (S236L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440186	NM_015386.3(COG4):c.2162C>A (p.Thr721Lys)	COG4 (T579K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440185	NM_015386.3(COG4):c.1196-7C>G	COG4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2440184	NM_015386.3(COG4):c.1169C>T (p.Ser390Phe)	COG4 (S248F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1319756	NM_015386.3(COG4):c.2084T>C (p.Val695Ala)	COG4 (V553A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1247007	NM_015386.3(COG4):c.171+161C>A	COG4, LOC130059341	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192940	NM_015386.3(COG4):c.171+63G>C	COG4, LOC130059341	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 992777	NM_015386.3(COG4):c.101C>T (p.Ala34Val)	COG4 (A30V +1 more)	Single nucleotide variant (missense variant +2 more)	Global developmental delay	GUncertain significance
Select item 931400	NM_015386.3(COG4):c.1542G>T (p.Gln514His)	COG4 (Q510H +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance