"Counsyl"[submitter] AND "SYCE2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550312	NM_000159.4(GCDH):c.1244-15A>G	GCDH, LOC126862860 +1 more	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
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 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 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 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
Select item 550027	NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg)	GCDH, LOC126862860 +1 more	Single nucleotide variant (stop lost +2 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 556812	NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp)	GCDH, LOC126862860 +1 more	Single nucleotide variant (stop lost +2 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 328335	NM_000159.4(GCDH):c.*101G>A	GCDH, LOC126862860 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 553343	NM_000159.4(GCDH):c.*182AGA[1]	GCDH, LOC126862860 +1 more (R424del)	Microsatellite (3 prime UTR variant +3 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 554382	NM_000159.4(GCDH):c.*201A>C	GCDH, LOC126862860 +1 more	Single nucleotide variant (3 prime UTR variant +3 more)	Glutaric aciduria, type 1	GUncertain significance