"Baylor Genetics"[submitter] AND "SYCE2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552962	NM_000159.4(GCDH):c.1244-2A>G	GCDH, LOC126862860 +1 more	Single nucleotide variant (splice acceptor variant +1 more)	Glutaric aciduria, type 1	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 2675868	NM_000159.4(GCDH):c.1249C>T (p.His417Tyr)	GCDH, LOC126862860 +1 more (H417Y)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 285973	NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	GCDH, LOC126862860 +1 more (A421T)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
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
Select item 557741	NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	SYCE2, GCDH +1 more (T429M)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 660506	NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)	GCDH, LOC126862860 +1 more (A433E)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 556228	NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	GCDH, LOC126862860 +1 more (A433V)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic