COG4[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 376

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 656813	NC_000016.9:g.(?_70286614)_(70669268_?)dup	AARS1, COG4 +27 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 3653	NC_000016.10:g.(70426035_70473004)_(70512433_70519648)del	COG4, FCSK +8 more	Deletion	COG4-congenital disorder of glycosylation	GPathogenic
Select item 1229189	NM_015386.3(COG4):c.*85T>G	COG4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 390421	NM_015386.3(COG4):c.*7G>C	COG4	Single nucleotide variant (3 prime UTR variant +1 more)	COG4-related disorder +1 more	GLikely benign
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 1470748	NM_015386.3(COG4):c.2358G>C (p.Arg786Ser)	COG4 (R644S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 392502	NM_015386.3(COG4):c.2348A>G (p.Asp783Gly)	COG4 (D783G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 745200	NM_015386.3(COG4):c.2343T>C (p.Ser781=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1950532	NM_015386.3(COG4):c.2342G>A (p.Ser781Asn)	COG4 (S781N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	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 31928	NM_015386.3(COG4):c.2318T>G (p.Leu773Arg)	COG4 (L773R +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GPathogenic
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 194974	NM_015386.3(COG4):c.2310C>G (p.Arg770=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 545074	NM_015386.3(COG4):c.2286_2299del (p.Trp762fs)	COG4 (W620fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided	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)	Inborn genetic diseases +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 1984134	NM_015386.3(COG4):c.2282C>T (p.Thr761Met)	COG4 (T619M +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 320362	NM_015386.3(COG4):c.2278T>C (p.Leu760=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1106073	NM_015386.3(COG4):c.2268T>C (p.Asn756=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 702101	NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)	COG4 (D609N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1655511	NM_015386.3(COG4):c.2247C>A (p.Ile749=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-related disorder +2 more	GLikely benign
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 2105750	NM_015386.3(COG4):c.2236G>A (p.Val746Met)	COG4 (V604M +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 420287	NM_015386.3(COG4):c.2236-17dup	COG4	Duplication (intron variant)	not specified	GLikely benign
Select item 381407	NM_015386.3(COG4):c.2236-16A>G	COG4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 392503	NM_015386.3(COG4):c.2225A>G (p.Asn742Ser)	COG4 (N742S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 1309270	NM_015386.3(COG4):c.2216C>T (p.Thr739Ile)	COG4 (T597I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3652	NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)	COG4 (R733W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 320365	NM_015386.3(COG4):c.2163G>A (p.Thr721=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GBenign
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 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 128810	NM_015386.3(COG4):c.2142G>A (p.Ser714=)	COG4	Single nucleotide variant (synonymous variant +1 more)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type +2 more	GBenign
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 1016153	NM_015386.3(COG4):c.2141C>G (p.Ser714Trp)	COG4 (S572W +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	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 1363796	NM_015386.3(COG4):c.2114G>C (p.Gly705Ala)	COG4 (G563A +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1658551	NM_015386.3(COG4):c.2107-18G>A	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1268908	NM_015386.3(COG4):c.2106+67A>C	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1356864	NM_015386.3(COG4):c.2104C>T (p.Arg702Trp)	COG4 (R560W +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	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 1319756	NM_015386.3(COG4):c.2084T>C (p.Val695Ala)	COG4 (V553A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 655434	NM_015386.3(COG4):c.2083G>T (p.Val695Leu)	COG4 (V553L +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2080674	NM_015386.3(COG4):c.2081T>C (p.Val694Ala)	COG4 (V694A +2 more)	Single nucleotide variant (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 320367	NM_015386.3(COG4):c.2067C>T (p.Val689=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
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 1035424	NM_015386.3(COG4):c.2041G>A (p.Gly681Ser)	COG4 (G539S +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 373675	NM_015386.3(COG4):c.2034C>A (p.Ser678Arg)	COG4 (S678R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 800159	NM_015386.3(COG4):c.2030A>G (p.Asp677Gly)	COG4 (D535G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2168011	NM_015386.3(COG4):c.2029G>A (p.Asp677Asn)	COG4 (D535N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1341707	NM_015386.3(COG4):c.2026T>C (p.Tyr676His)	COG4 (Y534H +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type +1 more	GUncertain significance
Select item 507008	NM_015386.3(COG4):c.2019G>A (p.Pro673=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 545073	NM_015386.3(COG4):c.2005G>C (p.Ala669Pro)	COG4 (A669P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2019486	NM_015386.3(COG4):c.2004+10G>A	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
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 2030602	NM_015386.3(COG4):c.1978C>T (p.Leu660=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
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 2189413	NM_015386.3(COG4):c.1950C>T (p.Asp650=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1804352	NM_015386.3(COG4):c.1948G>C (p.Asp650His)	COG4 (D508H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not provided	GUncertain significance
Select item 512464	NM_015386.3(COG4):c.1947C>T (p.Asn649=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1002699	NM_015386.3(COG4):c.1931A>G (p.Asn644Ser)	COG4 (N502S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 719725	NM_015386.3(COG4):c.1927T>C (p.Phe643Leu)	COG4 (F501L +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 788255	NM_015386.3(COG4):c.1921-9T>C	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291004	NM_015386.3(COG4):c.1921-31C>T	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188339	NM_015386.3(COG4):c.1921-80C>T	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277782	NM_015386.3(COG4):c.1921-150G>C	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240636	NM_015386.3(COG4):c.1920+255_1920+260del	COG4	Deletion (intron variant)	not provided	GBenign
Select item 1302836	NM_015386.3(COG4):c.1920+242C>T	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264082	NM_015386.3(COG4):c.1920+154A>G	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1216055	NM_015386.3(COG4):c.1900G>A (p.Val634Ile)	COG4 (V492I +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 569846	NM_015386.3(COG4):c.1894T>C (p.Phe632Leu)	COG4 (F632L +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1492203	NM_015386.3(COG4):c.1875G>T (p.Gln625His)	COG4 (Q625H +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	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 599648	NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)	COG4 (E614* +2 more)	Single nucleotide variant (nonsense +1 more)	COG4-congenital disorder of glycosylation +2 more	GPathogenic
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 765996	NM_015386.3(COG4):c.1839G>A (p.Thr613=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1381173	NM_015386.3(COG4):c.1838C>T (p.Thr613Met)	COG4 (T613M +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 511934	NM_015386.3(COG4):c.1828-10C>A	COG4	Single nucleotide variant (intron variant)	not specified	GLikely benign

<< First< Prev

Page of 4