C0268595[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552917	NM_000159.4(GCDH):c.1A>C (p.Met1Leu)	GCDH, LOC117125594 (M1L)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 551240	NM_000159.4(GCDH):c.3G>A (p.Met1Ile)	GCDH, LOC117125594 (M1I)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 551431	NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del)	GCDH, LOC117125594 (S26del)	Microsatellite (inframe_deletion +1 more)	Glutaric aciduria, type 1	GUncertain significance
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 370485	NM_000159.4(GCDH):c.80_81del (p.Ala27fs)	GCDH, LOC117125594 (A27fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely 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 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 553050	NM_000159.4(GCDH):c.227A>C (p.Gln76Pro)	GCDH, LOC117125594 (Q76P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
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 189030	NM_000159.4(GCDH):c.271+1G>A	GCDH	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely 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 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 554548	NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)	GCDH (G112*)	Single nucleotide variant (nonsense +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 370280	NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter)	GCDH (Y113*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
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 557982	NM_000159.4(GCDH):c.365C>T (p.Ala122Val)	GCDH (A122V)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 552317	NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del)	GCDH	Deletion (inframe_deletion +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 371176	NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)	GCDH (R128*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
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 554526	NM_000159.4(GCDH):c.394C>G (p.Arg132Gly)	GCDH (R132G)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
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 555414	NM_000159.4(GCDH):c.397G>T (p.Val133Leu)	GCDH (V133L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 554075	NM_000159.4(GCDH):c.427G>A (p.Val143Ile)	GCDH (V143I)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 92531	NM_000159.4(GCDH):c.428T>C (p.Val143Ala)	GCDH (V143A)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 555251	NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)	GCDH (S146Y)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
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 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 370719	NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)	GCDH (E172*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
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 189012	NM_000159.4(GCDH):c.533G>A (p.Gly178Glu)	GCDH (G178E)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 556229	NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)	GCDH (L179R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
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 555620	NM_000159.4(GCDH):c.636-38G>A	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 554949	NM_000159.4(GCDH):c.636-26C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 554932	NM_000159.4(GCDH):c.636-24C>G	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 507433	NM_000159.4(GCDH):c.636-18C>T	GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1 +1 more	GLikely benign
Select item 552550	NM_000159.4(GCDH):c.636-2dup	GCDH	Duplication (splice acceptor variant)	Glutaric aciduria, type 1	GUncertain significance
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 551561	NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)	GCDH (T214A)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
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 550719	NM_000159.4(GCDH):c.646_649dup (p.Pro217fs)	GCDH (P217fs)	Duplication (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 370963	NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer)	GCDH	Deletion (nonsense +1 more)	Glutaric aciduria, type 1	GLikely 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 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 558008	NM_000159.4(GCDH):c.727_730dup (p.Gly244fs)	GCDH (G244fs)	Duplication (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 553722	NM_000159.4(GCDH):c.730G>A (p.Gly244Ser)	GCDH (G244S)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
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 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 556402	NM_000159.4(GCDH):c.798G>A (p.Met266Ile)	GCDH (M266I)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
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 554513	NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)	GCDH (N291K)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 371609	NM_000159.4(GCDH):c.873del (p.Asn291fs)	GCDH (N291fs)	Deletion (frameshift variant +1 more)	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 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 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 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 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 193561	NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)	GCDH (Q333E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 554539	NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)	GCDH (Q352*)	Single nucleotide variant (nonsense +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 556644	NM_000159.4(GCDH):c.1082+1G>T	GCDH	Single nucleotide variant (splice donor variant)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 557606	NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)	GCDH (R372K)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 286241	NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	GCDH (A382T)	Single nucleotide variant (missense variant +1 more)	GCDH-related disorder +2 more	GPathogenic/Likely 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
Select item 555739	NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	GCDH (R383H)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 555570	NM_000159.4(GCDH):c.1173dup (p.Asn392fs)	GCDH (N392fs)	Duplication (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
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 193799	NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	GCDH (G390R)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 557907	NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)	GCDH (G390V)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 371251	NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)	GCDH (G390A)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 2088	NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	GCDH (V400M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
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 552172	NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)	GCDH (L407P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 553621	NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter)	GCDH (Y413*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 189066	NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)	GCDH (Y413*)	Single nucleotide variant (nonsense +1 more)	GCDH-related disorder +1 more	GPathogenic/Likely pathogenic
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

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Items: 99