C0268595[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2087	NM_000159.4(GCDH):c.91+5G>T	GCDH, KLF1 +1 more	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1 +3 more	GPathogenic
Select item 969919	NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)	GCDH, LOC117125594 (P53S)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 189150	NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	GCDH (R88C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1012927	NM_000159.4(GCDH):c.263G>A (p.Arg88His)	GCDH (R88H)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 92530	NM_000159.4(GCDH):c.278A>G (p.His93Arg)	GCDH (H93R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 529446	NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	GCDH (R94L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 418224	NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	GCDH (R94Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 189063	NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	GCDH (R128Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 377917	NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	GCDH (R132Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 188789	NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	GCDH (R161Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 665742	NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	GCDH (K170N)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 371271	NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	GCDH (G178R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 198396	NM_000159.4(GCDH):c.572T>C (p.Met191Thr)	GCDH (M191T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 495688	NM_000159.4(GCDH):c.636-4_639del	GCDH	Deletion (splice acceptor variant)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 191375	NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	GCDH (W225*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2089	NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	GCDH (R227P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic
Select item 374435	NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	GCDH (S255L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188872	NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	GCDH (R257W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2083	NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	GCDH (A293T)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic
Select item 379529	NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	GCDH (R313W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 971376	NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)	GCDH (A316T)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2086	NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)	GCDH (E365K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2088	NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	GCDH (V400M)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +2 more	GPathogenic
Select item 2085	NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	GCDH (R402W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 189011	NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	GCDH (R402Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 328333	NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr)	GCDH (A404T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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

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Items: 29