"Genome-Nilou Lab"[submitter] AND "GCDH"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172947	NM_000159.4(GCDH):c.-35+17A>G	LOC117125594, GCDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255394	NM_000159.4(GCDH):c.127+48T>C	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1 +2 more	GBenign
Select item 1172958	NM_000159.4(GCDH):c.127+64G>C	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1172959	NM_000159.4(GCDH):c.128-82T>G	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1199312	NM_000159.4(GCDH):c.1134C>T (p.Ala378=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 382438	NM_000159.4(GCDH):c.1143C>T (p.Ile381=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 92529	NM_000159.4(GCDH):c.1173G>T (p.Gly391=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 208504	NM_000159.4(GCDH):c.*165A>G	SYCE2, GCDH +1 more (Q417R)	Single nucleotide variant (3 prime UTR variant +3 more)	Glutaric aciduria, type 1 +2 more	GBenign
Select item 208505	NM_000159.4(GCDH):c.*288G>T	GCDH, LOC126862860 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign