"Myriad Genetics, Inc."[submitter] AND "GCDH"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984308	NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)	GCDH, LOC117125594 (K42*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 984309	NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)	GCDH, LOC117125594 (W50*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 1726397	NM_000159.4(GCDH):c.197_198del (p.Leu66fs)	GCDH, LOC117125594 (L66fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 984310	NM_000159.4(GCDH):c.229G>T (p.Glu77Ter)	GCDH, LOC117125594 (E77*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 984311	NM_000159.4(GCDH):c.304G>T (p.Glu102Ter)	GCDH (E102*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 984312	NM_000159.4(GCDH):c.635G>A (p.Trp212Ter)	GCDH (W212*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2089	NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	GCDH (R227P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 643053	NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)	GCDH (P278S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1724788	NM_000159.4(GCDH):c.870_871del (p.Asn291fs)	GCDH (N291fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 984313	NM_000159.4(GCDH):c.907G>T (p.Gly303Ter)	GCDH (G303*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 984314	NM_000159.4(GCDH):c.988C>T (p.Gln330Ter)	GCDH (Q330*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 984315	NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter)	GCDH (L356*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2085	NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	GCDH (R402W)	Single nucleotide variant (missense variant +1 more)	Abnormality of metabolism/homeostasis +4 more	GPathogenic/Likely pathogenic
Select item 193798	NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	GCDH (M405V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193976	NM_000159.4(GCDH):c.1244-2A>C	GCDH, LOC126862860 +1 more	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 2082	NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)	GCDH, LOC126862860 +1 more (A421V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic