"Mendelics"[submitter] AND "GCDH"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 647712	NM_000159.4(GCDH):c.91+5G>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 188921	NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	GCDH (S139L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1685325	NM_000159.4(GCDH):c.424A>C (p.Ser142Arg)	GCDH (S142R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 1685842	NM_000159.4(GCDH):c.671T>G (p.Val224Gly)	GCDH (V224G)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 221908	NM_000159.4(GCDH):c.852+223C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1 +2 more	GBenign
Select item 2083	NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	GCDH (A293T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 859875	NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)	GCDH (R294Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 803525	NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr)	GCDH (I381T)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 286241	NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	GCDH (A382T)	Single nucleotide variant (missense variant +1 more)	GCDH-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2088	NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	GCDH (V400M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 803526	NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys)	GCDH (E408K)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 556228	NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	SYCE2, GCDH +1 more (A433V)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 208504	NM_000159.4(GCDH):c.*165A>G	SYCE2, GCDH +1 more (Q417R)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +2 more	GBenign
Select item 208505	NM_000159.4(GCDH):c.*288G>T	GCDH, SYCE2 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Glutaric aciduria, type 1 +2 more	GBenign