"GeneDx"[submitter] AND "NOG"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1230964	NM_005450.6(NOG):c.-385C>A	NOG	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1258795	NM_005450.6(NOG):c.-73G>A	NOG	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1200838	NM_005450.6(NOG):c.122T>G (p.Leu41Arg)	NOG (L41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420069	NM_005450.6(NOG):c.125C>T (p.Pro42Leu)	NOG (P42L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1305223	NM_005450.6(NOG):c.136C>T (p.Leu46Phe)	NOG (L46F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581938	NM_005450.6(NOG):c.245C>A (p.Ser82Ter)	NOG (S82*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 450688	NM_005450.6(NOG):c.296A>G (p.Glu99Gly)	NOG (E99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6704	NM_005450.6(NOG):c.328C>T (p.Gln110Ter)	NOG (Q110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 424371	NM_005450.6(NOG):c.340G>A (p.Gly114Arg)	NOG (G114R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3371335	NM_005450.6(NOG):c.389C>T (p.Ala130Val)	NOG (A130V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307057	NM_005450.6(NOG):c.500G>A (p.Arg167His)	NOG (R167H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196412	NM_005450.6(NOG):c.509C>T (p.Pro170Leu)	NOG (P170L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 770644	NM_005450.6(NOG):c.582G>A (p.Pro194=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 6691	NM_005450.6(NOG):c.665A>G (p.Tyr222Cys)	NOG (Y222C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1280413	NM_005450.6(NOG):c.134_135del	NOG	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1221568	NM_005450.6(NOG):c.133_135del	NOG	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1180212	NM_005450.6(NOG):c.*135del	NOG	Deletion (3 prime UTR variant)	not provided	GBenign