Related gene-specific medical variations for Gene (Select 80347) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147005	NM_025233.7(COASY):c.-198G>A	COASY, LOC130060907 (R5K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3026888	NM_025233.7(COASY):c.-206G>A	COASY, LOC130060907	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2690569	NM_025233.7(COASY):c.1303-2A>G	COASY	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 1992543	NM_025233.7(COASY):c.41C>T (p.Pro14Leu)	COASY, LOC130060908 (P14L +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1419851	NM_025233.7(COASY):c.40C>G (p.Pro14Ala)	COASY, LOC130060908 (P14A +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
Select item 1081303	NM_025233.7(COASY):c.15G>T (p.Arg5=)	COASY, LOC130060908	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6	GLikely benign
Select item 996878	NM_025233.7(COASY):c.-5G>A	COASY, LOC130060908 (G28D)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 6	GUncertain significance
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 517020	NM_025233.7(COASY):c.25C>T (p.Leu9=)	COASY, LOC130060908	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GBenign
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 +1 more	GConflicting classifications of pathogenicity
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