"GeneDx"[submitter] AND "COASY"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1263643	NC_000017.11:g.42561996C>A	COASY	Single nucleotide variant	not provided	GBenign
Select item 515336	NM_025233.7(COASY):c.-439C>G	COASY	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 680932	NM_025233.7(COASY):c.-395G>C	COASY, LOC130060907	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 383064	NM_025233.7(COASY):c.-235C>G	COASY, LOC130060907	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 510582	NM_025233.7(COASY):c.-116C>T	COASY, LOC130060908	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 441109	NM_025233.7(COASY):c.-1C>T	COASY, LOC130060908	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2429658	NM_025233.7(COASY):c.23T>G (p.Leu8Arg)	COASY, LOC130060908 (L37R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517020	NM_025233.7(COASY):c.25C>T (p.Leu9=)	COASY, LOC130060908	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3370062	NM_025233.7(COASY):c.80C>T (p.Thr27Ile)	COASY (T27I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390090	NM_025233.7(COASY):c.81C>T (p.Thr27=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GBenign/Likely benign
Select item 784790	NM_025233.7(COASY):c.156G>C (p.Gln52His)	COASY (Q81H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 379956	NM_025233.7(COASY):c.164C>A (p.Ser55Tyr)	COASY (S55Y +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 3378017	NM_025233.7(COASY):c.193C>A (p.Leu65Ile)	COASY (L65I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2322794	NM_025233.7(COASY):c.201C>A (p.Phe67Leu)	COASY (F96L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 426190	NM_025233.7(COASY):c.206C>T (p.Thr69Met)	COASY (T69M +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GUncertain significance
Select item 515445	NM_025233.7(COASY):c.207G>A (p.Thr69=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GBenign/Likely benign
Select item 1321667	NM_025233.7(COASY):c.247G>T (p.Val83Phe)	COASY (V112F +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1303689	NM_025233.7(COASY):c.352T>C (p.Phe118Leu)	COASY (F118L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620212	NM_025233.7(COASY):c.394C>T (p.Gln132Ter)	COASY (Q132* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2199142	NM_025233.7(COASY):c.403C>T (p.Arg135Cys)	COASY (R135C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 774997	NM_025233.7(COASY):c.444C>G (p.Ala148=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GLikely benign
Select item 1195069	NM_025233.7(COASY):c.476_478del (p.Gly159del)	COASY (G159del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 707234	NM_025233.7(COASY):c.518C>A (p.Thr173Lys)	COASY (T173K +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GLikely benign
Select item 1516387	NM_025233.7(COASY):c.548C>T (p.Ser183Phe)	COASY (S212F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 512295	NM_025233.7(COASY):c.700+20G>C	COASY	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1192811	NM_025233.7(COASY):c.700+96T>C	COASY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187182	NM_025233.7(COASY):c.700+183T>A	COASY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669471	NM_025233.7(COASY):c.700+230G>T	COASY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231488	NM_025233.7(COASY):c.701-160A>G	COASY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3375920	NM_025233.7(COASY):c.734C>T (p.Thr245Ile)	COASY (T245I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510576	NM_025233.7(COASY):c.744G>A (p.Val248=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GLikely benign
Select item 1010453	NM_025233.7(COASY):c.778C>T (p.Pro260Ser)	COASY (P260S +1 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 767101	NM_025233.7(COASY):c.802C>T (p.Pro268Ser)	COASY (P297S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 513281	NM_025233.7(COASY):c.805C>T (p.Leu269=)	COASY	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 387137	NM_025233.7(COASY):c.825C>A (p.Pro275=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GBenign/Likely benign
Select item 386283	NM_025233.7(COASY):c.825C>T (p.Pro275=)	COASY	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2429615	NM_025233.7(COASY):c.845T>C (p.Leu282Pro)	COASY (L282P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254887	NM_025233.7(COASY):c.880G>T (p.Gly294Trp)	COASY (G294W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 516963	NM_025233.7(COASY):c.885G>C (p.Gly295=)	COASY	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1251793	NM_025233.7(COASY):c.915+42C>T	COASY	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 386056	NM_025233.7(COASY):c.916-4C>G	COASY	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GLikely benign
Select item 1443326	NM_025233.7(COASY):c.924G>T (p.Glu308Asp)	COASY (E308D +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GUncertain significance
Select item 379957	NM_025233.7(COASY):c.972A>G (p.Thr324=)	COASY	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia, type 12 +3 more	GBenign
Select item 2010444	NM_025233.7(COASY):c.1009C>T (p.Arg337Cys)	COASY (R366C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1801108	NM_025233.7(COASY):c.1036C>T (p.Arg346Trp)	COASY (R346W +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GUncertain significance
Select item 387460	NM_025233.7(COASY):c.1047+6C>T	COASY	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 690397	NM_025233.7(COASY):c.1064C>T (p.Pro355Leu)	COASY (P355L +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GUncertain significance
Select item 511376	NM_025233.7(COASY):c.1068A>T (p.Thr356=)	COASY	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2043445	NM_025233.7(COASY):c.1129C>T (p.Arg377Ter)	COASY (R406* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 512134	NM_025233.7(COASY):c.1149G>A (p.Ala383=)	COASY	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3365887	NM_025233.7(COASY):c.1181G>A (p.Arg394Gln)	COASY (R394Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649844	NM_025233.7(COASY):c.1183G>A (p.Ala395Thr)	COASY (A395T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1186262	NM_025233.7(COASY):c.1187A>G (p.Tyr396Cys)	COASY (Y396C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310262	NM_025233.7(COASY):c.1222G>A (p.Glu408Lys)	COASY (E408K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305238	NM_025233.7(COASY):c.1272G>T (p.Lys424Asn)	COASY (K424N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 652590	NM_025233.7(COASY):c.1285C>T (p.Arg429Trp)	COASY (R429W +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GUncertain significance
Select item 1306622	NM_025233.7(COASY):c.1292T>C (p.Phe431Ser)	COASY (F431S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382978	NM_025233.7(COASY):c.1302+7A>G	COASY	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GLikely benign
Select item 422152	NM_025233.7(COASY):c.1302+19del	COASY	Deletion (intron variant)	not specified	GLikely benign
Select item 1181240	NM_025233.7(COASY):c.1302+75C>T	COASY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234037	NM_025233.7(COASY):c.1303-86C>G	COASY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196958	NM_025233.7(COASY):c.1303-22T>C	COASY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304348	NM_025233.7(COASY):c.1372C>T (p.Arg458Trp)	COASY (R458W +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GUncertain significance
Select item 1569908	NM_025233.7(COASY):c.1388-8C>T	COASY	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 421057	NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)	COASY (I469* +1 more)	Microsatellite (nonsense)	Pontocerebellar hypoplasia, type 12 +4 more	GConflicting classifications of pathogenicity
Select item 508259	NM_025233.7(COASY):c.1431C>T (p.Ala477=)	COASY	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 668333	NM_025233.7(COASY):c.1486-13C>T	COASY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380441	NM_025233.7(COASY):c.1486-5C>G	COASY	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GBenign
Select item 100662	NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)	COASY (R499C +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GPathogenic
Select item 2444702	NM_025233.7(COASY):c.1541G>A (p.Arg514Gln)	COASY (R514Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599342	NM_025233.7(COASY):c.1549_1550del (p.Ser517fs)	COASY (S517fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 648812	NM_025233.7(COASY):c.1561G>A (p.Gly521Arg)	COASY (G550R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 380530	NM_025233.7(COASY):c.1587C>T (p.His529=)	COASY	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 516550	NM_025233.7(COASY):c.1666A>G (p.Ile556Val)	COASY (I556V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3359277	NM_025233.7(COASY):c.604C>G (p.Arg202Gly)	COASY (R202G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 76