ClinVar for Gene (Select 25839) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373227	NM_015386.3(COG4):c.2155C>G (p.Leu719Val)	COG4 (L577V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368294	NM_015386.3(COG4):c.172-7_172-6del	COG4	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 3364773	NM_015386.3(COG4):c.1118A>T (p.Tyr373Phe)	COG4 (Y231F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364567	NM_015386.3(COG4):c.1647+5G>T	COG4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359595	NM_015386.3(COG4):c.322C>G (p.Leu108Val)	COG4 (L104V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3357571	NM_015386.3(COG4):c.32C>T (p.Pro11Leu)	COG4 (P11L +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-related disorder	GUncertain significance
Select item 3353451	NM_015386.3(COG4):c.1647+9C>G	COG4	Single nucleotide variant (intron variant)	COG4-related disorder	GUncertain significance
Select item 3349277	NM_015386.3(COG4):c.369+5T>G	COG4	Single nucleotide variant (intron variant)	COG4-related disorder	GLikely benign
Select item 3347869	NM_015386.3(COG4):c.1712G>C (p.Ser571Thr)	COG4 (S429T +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-related disorder	GUncertain significance
Select item 3343183	NM_015386.3(COG4):c.2356A>G (p.Arg786Gly)	COG4 (R644G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340758	NM_015386.3(COG4):c.15G>A (p.Met5Ile)	COG4 (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 3340616	NM_015386.3(COG4):c.500G>A (p.Cys167Tyr)	COG4 (C163Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336076	NM_015386.3(COG4):c.1481+11C>T	COG4	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 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 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 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 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 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243569	NC_000016.9:g.(?_70305664)_(70834803_?)dup	DDX19B, FCSK +8 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	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 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 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 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 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 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 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 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 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 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 3069102	NC_000016.9:g.(?_70514473)_(70534995_70542308)dup	COG4	Duplication	not specified	GUncertain significance
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 3063458	GRCh37/hg19 16q22.1(chr16:70180112-70650383)x3	AARS1, CLEC18C +10 more	Copy number gain	not specified	GUncertain significance
Select item 3053524	NM_015386.3(COG4):c.545-4G>A	COG4	Single nucleotide variant (intron variant)	COG4-related disorder	GLikely benign
Select item 3051981	NM_015386.3(COG4):c.21C>T (p.Asp7=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-related disorder	GLikely benign
Select item 3051280	NM_015386.3(COG4):c.1545C>T (p.Arg515=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-related disorder	GLikely benign
Select item 3046332	NM_015386.3(COG4):c.1617G>A (p.Glu539=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-related disorder	GLikely benign
Select item 3039859	NM_015386.3(COG4):c.1722C>G (p.Thr574=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-related disorder	GLikely benign
Select item 3033601	NM_015386.3(COG4):c.60G>C (p.Pro20=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-related disorder	GLikely benign
Select item 2917150	NM_015386.3(COG4):c.1608del (p.Gly537fs)	COG4 (G533fs +2 more)	Deletion (frameshift variant +1 more)	COG4-congenital disorder of glycosylation	GPathogenic
Select item 2896787	NM_015386.3(COG4):c.1064A>T (p.Glu355Val)	COG4 (E355V +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2881012	NM_015386.3(COG4):c.897G>T (p.Gly299=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2878526	NM_015386.3(COG4):c.484_485inv (p.Thr162Val)	COG4 (T20V +2 more)	Inversion (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2870841	NM_015386.3(COG4):c.2076G>T (p.Glu692Asp)	COG4 (E550D +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2858857	NM_015386.3(COG4):c.1839G>C (p.Thr613=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2790686	NM_015386.3(COG4):c.2106+4A>G	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2776512	NM_015386.3(COG4):c.310T>G (p.Phe104Val)	COG4 (F100V +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2741045	NM_015386.3(COG4):c.369G>A (p.Lys123=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2731987	NM_015386.3(COG4):c.1720A>T (p.Thr574Ser)	COG4 (T549S +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2722743	NM_015386.3(COG4):c.510G>A (p.Lys170=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2721681	NM_015386.3(COG4):c.619T>C (p.Phe207Leu)	COG4 (F207L +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2700194	NM_015386.3(COG4):c.265C>A (p.Gln89Lys)	COG4 (Q85K +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2698609	NM_015386.3(COG4):c.1002+13A>G	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
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 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684812	GRCh37/hg19 16q22.1(chr16:70305107-70594202)x3	AARS1, COG4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2646684	NM_015386.3(COG4):c.31C>T (p.Pro11Ser)	COG4 (P11S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2646683	NM_015386.3(COG4):c.1051dup (p.Ile351fs)	COG4 (I209fs +2 more)	Duplication (frameshift variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2646682	NM_015386.3(COG4):c.1295T>C (p.Met432Thr)	COG4 (M290T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636371	NM_015386.3(COG4):c.149A>T (p.Tyr50Phe)	COG4 (Y46F +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-related disorder	GUncertain significance
Select item 2635433	NM_015386.3(COG4):c.254G>A (p.Gly85Asp)	COG4 (G81D +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-related disorder	GUncertain significance
Select item 2631737	NM_015386.3(COG4):c.2332G>C (p.Asp778His)	COG4 (D636H +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-related disorder	GUncertain significance
Select item 2631609	NM_015386.3(COG4):c.2314del (p.Val772fs)	COG4 (V630fs +2 more)	Deletion (frameshift variant +1 more)	COG4-related disorder	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 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 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 2580671	NM_015386.3(COG4):c.665T>C (p.Phe222Ser)	COG4 (F218S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580658	NM_015386.3(COG4):c.61T>C (p.Ser21Pro)	COG4 (S17P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2574215	NM_015386.3(COG4):c.629C>T (p.Ala210Val)	COG4 (A206V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574214	NM_015386.3(COG4):c.59C>T (p.Pro20Leu)	COG4 (P20L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 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 2506764	NM_015386.3(COG4):c.978C>G (p.Ile326Met)	COG4 (I184M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503216	NM_015386.3(COG4):c.383A>G (p.Gln128Arg)	COG4 (Q124R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2500474	NM_015386.3(COG4):c.53A>G (p.Gln18Arg)	COG4 (Q14R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2446151	NM_015386.3(COG4):c.844+1G>A	COG4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 2427327	NC_000016.9:g.(?_70497094)_(70557446_?)dup	COG4, FCSK	Duplication	not provided	GUncertain significance
Select item 2426425	NC_000016.9:g.(?_70497094)_(70834803_?)dup	COG4, FCSK +4 more	Duplication	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	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 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 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 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 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 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 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

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