"PreventionGenetics, part of Exact Sciences"[submitter] AND "COG7"[gen - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96523	NM_153603.4(COG7):c.2103T>C (p.Pro701=)	COG7	Single nucleotide variant (synonymous variant)	COG7-related condition +2 more	GBenign
Select item 772628	NM_153603.4(COG7):c.1972G>A (p.Ala658Thr)	COG7 (A658T)	Single nucleotide variant (missense variant)	COG7-related condition +1 more	GConflicting classifications of pathogenicity
Select item 515731	NM_153603.4(COG7):c.1851C>T (p.Pro617=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 96522	NM_153603.4(COG7):c.1814C>T (p.Thr605Met)	COG7 (T605M)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation +2 more	GBenign
Select item 702562	NM_153603.4(COG7):c.1718G>A (p.Arg573Gln)	COG7 (R573Q)	Single nucleotide variant (missense variant)	COG7-related condition +1 more	GLikely benign
Select item 2194007	NM_153603.4(COG7):c.1563G>C (p.Lys521Asn)	COG7 (K521N)	Single nucleotide variant (missense variant)	COG7-related condition +2 more	GUncertain significance
Select item 510488	NM_153603.4(COG7):c.1409+8G>A	COG7	Single nucleotide variant (intron variant)	COG7 congenital disorder of glycosylation +2 more	GLikely benign
Select item 390068	NM_153603.4(COG7):c.1409+7C>G	COG7	Single nucleotide variant (intron variant)	COG7-related condition +2 more	GLikely benign
Select item 318477	NM_153603.4(COG7):c.1178A>G (p.His393Arg)	COG7 (H393R)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 391793	NM_153603.4(COG7):c.1089C>T (p.Gly363=)	COG7	Single nucleotide variant (synonymous variant)	COG7-related condition +2 more	GBenign/Likely benign
Select item 2067772	NM_153603.4(COG7):c.1000C>T (p.Pro334Ser)	COG7 (P334S)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 96524	NM_153603.4(COG7):c.850A>T (p.Ile284Phe)	COG7 (I284F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318483	NM_153603.4(COG7):c.835G>A (p.Val279Ile)	COG7 (V279I)	Single nucleotide variant (missense variant)	COG7-related condition +1 more	GBenign/Likely benign
Select item 1629864	NM_153603.4(COG7):c.525G>A (p.Val175=)	COG7	Single nucleotide variant (synonymous variant)	COG7-related condition +2 more	GBenign/Likely benign
Select item 2848475	NM_153603.4(COG7):c.436-9C>G	COG7	Single nucleotide variant (intron variant)	COG7-related condition +1 more	GLikely benign
Select item 731991	NM_153603.4(COG7):c.360T>G (p.Leu120=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation +1 more	GLikely benign
Select item 318491	NM_153603.4(COG7):c.170-4A>G	COG7	Single nucleotide variant (intron variant)	COG7-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3041322	NM_153603.4(COG7):c.170-9dup	COG7	Duplication (intron variant)	COG7-related condition	GLikely benign
Select item 3040291	NM_153603.4(COG7):c.170-12_170-9del	COG7	Deletion (intron variant)	COG7-related condition	GLikely benign