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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 135

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675879	NM_000159.4(GCDH):c.7_8del (p.Leu3fs)	GCDH, LOC117125594 (L3fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2675884	NM_000159.4(GCDH):c.41_42delinsT (p.Gly14fs)	GCDH, LOC117125594 (G14fs)	Indel (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 371011	NM_000159.4(GCDH):c.79del (p.Ala27fs)	GCDH, LOC117125594 (A27fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 647712	NM_000159.4(GCDH):c.91+5G>A	LOC117125594, GCDH	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2099146	NM_000159.4(GCDH):c.127+1G>T	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 942900	NM_000159.4(GCDH):c.127+1G>A	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic
Select item 2577232	NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)	GCDH, LOC117125594 (W50R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 370338	NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)	GCDH, LOC117125594 (E58*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2675882	NM_000159.4(GCDH):c.175C>T (p.Gln59Ter)	GCDH, LOC117125594 (Q59*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 550794	NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)	GCDH, LOC117125594 (E64D)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 371205	NM_000159.4(GCDH):c.198del (p.Ile67fs)	GCDH, LOC117125594 (I67fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 370484	NM_000159.4(GCDH):c.219del (p.Tyr74fs)	GCDH, LOC117125594 (Y74fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 370102	NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)	GCDH, LOC117125594 (Q76*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2169610	NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)	GCDH (A86G)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 529444	NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)	GCDH (R88S)	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 459949	NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)	GCDH (E90K)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2675878	NM_000159.4(GCDH):c.272-2A>G	GCDH	Single nucleotide variant (splice acceptor variant)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 553365	NM_000159.4(GCDH):c.272-2A>C	GCDH	Single nucleotide variant (splice acceptor variant)	Glutaric aciduria, type 1	GLikely pathogenic
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 550735	NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)	GCDH (G101R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 495686	NM_000159.4(GCDH):c.329_332del (p.Ile110fs)	GCDH (I110fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 557526	NM_000159.4(GCDH):c.337T>C (p.Tyr113His)	GCDH (Y113H)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2675871	NM_000159.4(GCDH):c.339T>A (p.Tyr113Ter)	GCDH (Y113*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2101129	NM_000159.4(GCDH):c.345_349del (p.Cys115fs)	GCDH (C115fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 863301	NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)	GCDH (C115Y)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 288248	NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	GCDH (S119L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 189063	NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	GCDH (R128Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2675869	NM_000159.4(GCDH):c.397dup (p.Val133fs)	GCDH (V133fs)	Duplication (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely 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 2675877	NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)	GCDH (Y137*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 550912	NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	GCDH (S139W)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 188921	NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	GCDH (S139L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2138244	NM_000159.4(GCDH):c.442G>A (p.Val148Ile)	GCDH (V148I)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 1074476	NM_000159.4(GCDH):c.463T>C (p.Tyr155His)	GCDH (Y155H)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2138245	NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)	GCDH (Y155C)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 529445	NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	GCDH (Q160R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 850424	NM_000159.4(GCDH):c.481C>T (p.Arg161Trp)	GCDH (R161W)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 188789	NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	GCDH (R161Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 370903	NM_000159.4(GCDH):c.505+1_505+8del	GCDH	Deletion (splice donor variant)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 1162199	NM_000159.4(GCDH):c.505+1G>A	GCDH	Single nucleotide variant (splice donor variant)	Glutaric aciduria, type 1	GPathogenic
Select item 665742	NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	GCDH (K170N)	Single nucleotide variant (missense variant +1 more)	not specified +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 2675880	NM_000159.4(GCDH):c.552del (p.Ser184fs)	GCDH (S184fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 661521	NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)	GCDH (G185R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 1414622	NM_000159.4(GCDH):c.583G>A (p.Ala195Thr)	GCDH (A195T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92534	NM_000159.4(GCDH):c.636-1G>A	GCDH	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2282915	NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)	GCDH (W212*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 430567	NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	GCDH (T214M)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1706404	NM_000159.4(GCDH):c.650C>T (p.Pro217Leu)	GCDH (P217L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GLikely pathogenic
Select item 855324	NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)	GCDH (A219T)	Single nucleotide variant (missense variant +1 more)	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)	not provided +1 more	GPathogenic
Select item 1404269	NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)	GCDH (C228F)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 552581	NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	GCDH (R234W)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 1502957	NM_000159.4(GCDH):c.701G>A (p.Arg234Gln)	GCDH (R234Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1683830	NM_000159.4(GCDH):c.706T>C (p.Phe236Leu)	GCDH (F236L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic
Select item 459952	NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)	GCDH (S246L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 370244	NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	GCDH (P248L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 577874	NM_000159.4(GCDH):c.751C>T (p.Gln251Ter)	GCDH (Q251*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2780432	NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)	GCDH (S255*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
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)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 529442	NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)	GCDH (R257Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic
Select item 1383091	NM_000159.4(GCDH):c.775T>C (p.Ser259Pro)	GCDH (S259P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 856699	NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)	GCDH (S259L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 643053	NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)	GCDH (P278S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370672	NM_000159.4(GCDH):c.848del (p.Leu283fs)	GCDH (L283fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 328331	NM_000159.4(GCDH):c.852+5G>A	GCDH	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 371612	NM_000159.4(GCDH):c.853-2A>G	GCDH	Single nucleotide variant (splice acceptor variant)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2675875	NM_000159.4(GCDH):c.853-1G>A	GCDH	Single nucleotide variant (splice acceptor variant)	Glutaric aciduria, type 1	GLikely 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 860646	NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)	GCDH (R294W)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	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	GPathogenic
Select item 944475	NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)	GCDH (Y295*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 429706	NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)	GCDH (A298T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 813441	NM_000159.4(GCDH):c.896G>A (p.Trp299Ter)	GCDH (W299*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2138250	NM_000159.4(GCDH):c.901G>A (p.Val301Met)	GCDH (V301M)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 554907	NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	GCDH (A304T)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 581598	NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)	GCDH (S305L)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2736819	NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)	GCDH (L309W)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 943924	NM_000159.4(GCDH):c.932dup (p.Ala312fs)	GCDH (A312fs)	Duplication (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
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	GPathogenic/Likely pathogenic
Select item 1457534	NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)	GCDH (R313Q)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2675872	NM_000159.4(GCDH):c.957-1G>C	GCDH	Single nucleotide variant (splice acceptor variant)	Glutaric aciduria, type 1	GPathogenic
Select item 2675874	NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)	GCDH (Q321*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 556692	NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)	GCDH (Q333*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 555257	NM_000159.4(GCDH):c.1015A>G (p.Met339Val)	GCDH (M339V)	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 844414	NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr)	GCDH (A349T)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 188946	NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	GCDH (G354S)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 430222	NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)	GCDH (R355C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 459947	NM_000159.4(GCDH):c.1064G>A (p.Arg355His)	GCDH (R355H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2675883	NM_000159.4(GCDH):c.1065delinsATTGA (p.Lys357fs)	GCDH (K357fs)	Indel (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 1501110	NM_000159.4(GCDH):c.1082+2T>C	GCDH	Single nucleotide variant (splice donor variant)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2675881	NM_000159.4(GCDH):c.1093G>T (p.Glu365Ter)	GCDH (E365*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2086	NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)	GCDH (E365K)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic

<< First< Prev

Page of 2