"PreventionGenetics, part of Exact Sciences"[submitter] AND "COASY"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 441109	NM_025233.7(COASY):c.-1C>T	LOC130060908, COASY	Single nucleotide variant (5 prime UTR variant +1 more)	COASY-related condition +1 more	GConflicting classifications of pathogenicity
Select item 390090	NM_025233.7(COASY):c.81C>T (p.Thr27=)	COASY	Single nucleotide variant (synonymous variant)	COASY-related condition +2 more	GBenign/Likely benign
Select item 1590439	NM_025233.7(COASY):c.121C>T (p.Leu41=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GLikely benign
Select item 784790	NM_025233.7(COASY):c.156G>C (p.Gln52His)	COASY (Q81H +1 more)	Single nucleotide variant (missense variant)	COASY-related condition +2 more	GBenign/Likely benign
Select item 707234	NM_025233.7(COASY):c.518C>A (p.Thr173Lys)	COASY (T173K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1582202	NM_025233.7(COASY):c.597G>A (p.Thr199=)	COASY	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GLikely benign
Select item 767101	NM_025233.7(COASY):c.802C>T (p.Pro268Ser)	COASY (P297S +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GConflicting classifications of pathogenicity
Select item 3035629	NM_025233.7(COASY):c.1185C>T (p.Ala395=)	COASY	Single nucleotide variant (synonymous variant)	COASY-related condition	GLikely benign
Select item 1045449	NM_025233.7(COASY):c.1195G>C (p.Gly399Arg)	COASY (G428R +1 more)	Single nucleotide variant (missense variant)	COASY-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2150856	NM_025233.7(COASY):c.1303-8C>T	COASY	Single nucleotide variant (intron variant)	COASY-related condition +1 more	GLikely benign
Select item 2050208	NM_025233.7(COASY):c.1388-2A>G	COASY	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 6 +1 more	GLikely pathogenic
Select item 421057	NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)	COASY (I469* +1 more)	Microsatellite (nonsense)	Neurodegeneration with brain iron accumulation 6 +5 more	GConflicting classifications of pathogenicity
Select item 1671423	NM_025233.7(COASY):c.1413C>T (p.Ala471=)	COASY	Single nucleotide variant (synonymous variant)	COASY-related condition +1 more	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