ClinVar (all) for Orgtrack (Select 505434) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635011	NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)	GCDH (S189T)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 635010	NM_000159.4(GCDH):c.674G>C (p.Trp225Ser)	GCDH (W225S)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 625296	NM_000159.4(GCDH):c.1167_1168insT (p.Gly390fs)	GCDH (G390fs)	Insertion (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 625295	NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter)	GCDH (E414*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 625294	NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly)	GCDH (R372G)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 625293	NM_000159.4(GCDH):c.701G>C (p.Arg234Pro)	GCDH (R234P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 625292	NM_000159.4(GCDH):c.296A>G (p.Glu99Gly)	GCDH (E99G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 370106	NM_000159.4(GCDH):c.1173del (p.Asn392fs)	GCDH (N392fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 235860	NM_000159.4(GCDH):c.999G>A (p.Gln333=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GBenign
Select item 235859	NM_000159.4(GCDH):c.87G>A (p.Gln29=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GBenign
Select item 235858	NM_000159.4(GCDH):c.431A>C (p.Gln144Pro)	GCDH (Q144P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 235857	NM_000159.4(GCDH):c.456C>G (p.Ile152Met)	GCDH (I152M)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 221909	NM_000159.4(GCDH):c.795_796insCTATGATCATC (p.Met266delinsLeuTer)	GCDH	Insertion (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 221908	NM_000159.4(GCDH):c.852+223C>T	GCDH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 221907	NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile)	GCDH (T344I)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 221906	NM_000159.4(GCDH):c.*332C>A	GCDH, LOC126862860 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 221905	NM_000159.4(GCDH):c.*331T>C	GCDH, LOC126862860 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 221904	NM_000159.4(GCDH):c.*340G>A	GCDH, LOC126862860 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Glutaric aciduria, type 1	GUncertain significance
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
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 191376	NM_000159.4(GCDH):c.885C>T (p.Tyr295=)	GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
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 191374	NM_000159.4(GCDH):c.856C>T (p.Pro286Ser)	GCDH (P286S)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 188852	NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	GCDH (R383C)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic

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Items: 24