Related gene-specific medical variations for Gene (Select 64146) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210818	NM_022341.2(PDF):c.616G>C (p.Gly206Arg)	PDF, COG8 (G601R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210817	NM_022341.2(PDF):c.53C>T (p.Pro18Leu)	PDF, COG8 (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210816	NM_022341.2(PDF):c.407C>T (p.Pro136Leu)	COG8, PDF (P136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210815	NM_022341.2(PDF):c.22C>G (p.Leu8Val)	COG8, PDF (L8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210814	NM_022341.2(PDF):c.227G>A (p.Arg76His)	COG8, PDF (R76H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210813	NM_022341.2(PDF):c.143A>G (p.Tyr48Cys)	COG8, PDF (Y48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646672	NM_022341.2(PDF):c.492C>T (p.Arg164=)	COG8, PDF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2608355	NM_022341.2(PDF):c.583C>T (p.Pro195Ser)	COG8, PDF (P195S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556638	NM_022341.2(PDF):c.684G>A (p.Met228Ile)	COG8, PDF (M228I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553258	NM_022341.2(PDF):c.122G>A (p.Gly41Asp)	COG8, PDF (G41D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551578	NM_022341.2(PDF):c.265G>A (p.Gly89Arg)	COG8, PDF (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543780	NM_022341.2(PDF):c.184C>G (p.Pro62Ala)	COG8, PDF (P62A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401256	NM_022341.2(PDF):c.35C>G (p.Pro12Arg)	COG8, PDF (P12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338754	NM_022341.2(PDF):c.440C>T (p.Pro147Leu)	COG8, PDF (P147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320437	NM_022341.2(PDF):c.217C>T (p.Pro73Ser)	COG8, PDF (P73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309923	NM_022341.2(PDF):c.287C>T (p.Thr96Met)	COG8, PDF (T96M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297401	NM_022341.2(PDF):c.16G>A (p.Gly6Ser)	COG8, PDF (G6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288766	NM_022341.2(PDF):c.19G>T (p.Ala7Ser)	COG8, PDF (A7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272264	NM_022341.2(PDF):c.53C>G (p.Pro18Arg)	COG8, PDF (P18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253685	NM_022341.2(PDF):c.344A>G (p.Gln115Arg)	COG8, PDF (Q115R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253603	NM_022341.2(PDF):c.28C>G (p.Leu10Val)	COG8, PDF (L10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235795	NM_022341.2(PDF):c.587A>T (p.Asn196Ile)	COG8, PDF (N591I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1236212	NM_032382.5(COG8):c.*26+273T>C	COG8, PDF (W11R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1032952	NM_032382.5(COG8):c.*26+543C>T	PDF, COG8 (Q101*)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 888377	NM_032382.5(COG8):c.*73G>A	COG8, PDF (W207*)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 888376	NM_032382.5(COG8):c.*402A>G	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 887112	NM_032382.5(COG8):c.*568G>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 422830	NM_032382.5(COG8):c.*27-8del	COG8, PDF	Deletion (intron variant)	not specified	GLikely benign
Select item 320307	NM_032382.5(COG8):c.*196dup	PDF, COG8	Duplication (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 320306	NM_032382.5(COG8):c.*330G>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GBenign
Select item 320305	NM_032382.5(COG8):c.*332A>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GBenign
Select item 320304	NM_032382.5(COG8):c.*492C>T	PDF, COG8	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 320303	NM_032382.5(COG8):c.*506C>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance

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Links from Gene

Items: 33