"Ambry Genetics"[submitter] AND "COG4"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230772	NM_015386.3(COG4):c.2363G>A (p.Arg788His)	COG4 (R646H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235643	NM_015386.3(COG4):c.2308C>T (p.Arg770Cys)	COG4 (R745C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199739	NM_015386.3(COG4):c.2293A>G (p.Thr765Ala)	COG4 (T740A +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 291074	NM_015386.3(COG4):c.2288G>A (p.Arg763His)	COG4 (R763H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2245714	NM_015386.3(COG4):c.2287C>T (p.Arg763Cys)	COG4 (R738C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147109	NM_015386.3(COG4):c.2242G>A (p.Glu748Lys)	COG4 (E723K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 392503	NM_015386.3(COG4):c.2225A>G (p.Asn742Ser)	COG4 (N742S +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2211883	NM_015386.3(COG4):c.2224A>G (p.Asn742Asp)	COG4 (N742D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358170	NM_015386.3(COG4):c.2198G>A (p.Arg733Gln)	COG4 (R708Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147108	NM_015386.3(COG4):c.2171C>A (p.Thr724Asn)	COG4 (T582N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401465	NM_015386.3(COG4):c.2150C>T (p.Ala717Val)	COG4 (A575V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622102	NM_015386.3(COG4):c.2141C>T (p.Ser714Leu)	COG4 (S689L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296245	NM_015386.3(COG4):c.2120A>G (p.Gln707Arg)	COG4 (Q682R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1804253	NM_015386.3(COG4):c.2095A>G (p.Thr699Ala)	COG4 (T557A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3147107	NM_015386.3(COG4):c.2045T>G (p.Leu682Arg)	COG4 (L540R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261873	NM_015386.3(COG4):c.2004G>A (p.Lys668=)	COG4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286011	NM_015386.3(COG4):c.1961A>G (p.Gln654Arg)	COG4 (Q512R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 430188	NM_015386.3(COG4):c.1948G>A (p.Asp650Asn)	COG4 (D650N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2238536	NM_015386.3(COG4):c.1910A>T (p.Asn637Ile)	COG4 (N495I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225317	NM_015386.3(COG4):c.1858A>G (p.Ile620Val)	COG4 (I478V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 665763	NM_015386.3(COG4):c.1798G>A (p.Val600Met)	COG4 (V575M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 423833	NM_015386.3(COG4):c.1795G>A (p.Ala599Thr)	COG4 (A599T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3268472	NM_015386.3(COG4):c.1733G>A (p.Ser578Asn)	COG4 (S578N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 320370	NM_015386.3(COG4):c.1631C>T (p.Ala544Val)	COG4 (A544V +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2211728	NM_015386.3(COG4):c.1561G>A (p.Val521Met)	COG4 (V379M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2279164	NM_015386.3(COG4):c.1519G>A (p.Ala507Thr)	COG4 (A365T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147106	NM_015386.3(COG4):c.1446C>G (p.Ile482Met)	COG4 (I340M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1018070	NM_015386.3(COG4):c.1309A>G (p.Asn437Asp)	COG4 (N295D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3147105	NM_015386.3(COG4):c.1148C>T (p.Ser383Phe)	COG4 (S383F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306553	NM_015386.3(COG4):c.1142T>G (p.Ile381Ser)	COG4 (I381S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147104	NM_015386.3(COG4):c.1140G>T (p.Arg380Ser)	COG4 (R238S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228436	NM_015386.3(COG4):c.1105C>T (p.Arg369Cys)	COG4 (R369C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 761055	NM_015386.3(COG4):c.1072C>A (p.Pro358Thr)	COG4 (P216T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1386569	NM_015386.3(COG4):c.1054G>A (p.Glu352Lys)	COG4 (E352K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3147103	NM_015386.3(COG4):c.1007G>A (p.Arg336Gln)	COG4 (R336Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221714	NM_015386.3(COG4):c.906A>T (p.Arg302Ser)	COG4 (R302S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267375	NM_015386.3(COG4):c.858T>G (p.Ile286Met)	COG4 (I282M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374230	NM_015386.3(COG4):c.853C>T (p.Arg285Cys)	COG4 (R281C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147113	NM_015386.3(COG4):c.820G>C (p.Asp274His)	COG4 (D132H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 423834	NM_015386.3(COG4):c.797G>A (p.Arg266Gln)	COG4 (R266Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2212682	NM_015386.3(COG4):c.796C>T (p.Arg266Trp)	COG4 (R266W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317827	NM_015386.3(COG4):c.773T>A (p.Val258Glu)	COG4 (V116E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2202767	NM_015386.3(COG4):c.722A>G (p.Glu241Gly)	COG4 (E99G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3268477	NM_015386.3(COG4):c.662G>A (p.Arg221His)	COG4 (R79H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217296	NM_015386.3(COG4):c.661C>T (p.Arg221Cys)	COG4 (R79C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511684	NM_015386.3(COG4):c.644A>G (p.Asp215Gly)	COG4 (D215G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 430187	NM_015386.3(COG4):c.599A>G (p.Lys200Arg)	COG4 (K200R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1345892	NM_015386.3(COG4):c.593G>A (p.Arg198His)	COG4 (R194H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 582178	NM_015386.3(COG4):c.539A>G (p.Lys180Arg)	COG4 (K180R +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 1723819	NM_015386.3(COG4):c.536G>A (p.Gly179Asp)	COG4 (G175D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2250917	NM_015386.3(COG4):c.530G>A (p.Arg177Gln)	COG4 (R173Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589252	NM_015386.3(COG4):c.451A>G (p.Arg151Gly)	COG4 (R9G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471147	NM_015386.3(COG4):c.380A>G (p.Tyr127Cys)	COG4 (Y123C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2249162	NM_015386.3(COG4):c.370A>G (p.Asn124Asp)	COG4 (N120D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275466	NM_015386.3(COG4):c.355C>T (p.Leu119Phe)	COG4 (L119F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3268478	NM_015386.3(COG4):c.320A>T (p.Asn107Ile)	COG4 (N103I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2523593	NM_015386.3(COG4):c.252G>A (p.Met84Ile)	COG4 (M80I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3268475	NM_015386.3(COG4):c.231G>C (p.Lys77Asn)	COG4 (K77N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2605321	NM_015386.3(COG4):c.137T>C (p.Leu46Pro)	COG4 (L46P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3268473	NM_015386.3(COG4):c.100G>A (p.Ala34Thr)	COG4 (A30T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2534034	NM_015386.3(COG4):c.94A>G (p.Ile32Val)	COG4 (I28V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3147112	NM_015386.3(COG4):c.77G>C (p.Gly26Ala)	COG4 (G22A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2078957	NM_015386.3(COG4):c.68G>A (p.Gly23Glu)	COG4 (G19E +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 3268476	NM_015386.3(COG4):c.66G>C (p.Glu22Asp)	COG4 (E18D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3147110	NM_015386.3(COG4):c.49G>C (p.Val17Leu)	COG4 (V17L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2386086	NM_015386.3(COG4):c.41T>C (p.Leu14Pro)	COG4 (L14P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 431906	NM_015386.3(COG4):c.14T>C (p.Met5Thr)	COG4 (M5T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance

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Items: 69