Propionic acid hydrazide - ClinVar - NCBI

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The following term was not found in ClinVar: hydrazide.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297476	NM_015506.2(MMACHC):c.-123A>T	MMACHC	Single nucleotide variant	Cobalamin C disease +1 more	GUncertain significance
Select item 1405023	NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)	MMACHC (V5D)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 1358074	NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)	MMACHC (E13A)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 1524960	NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)	MMACHC (P18L)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 297479	NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)	MMACHC (V23F)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease +4 more	GUncertain significance
Select item 552467	NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)	MMACHC (Q27R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic
Select item 438649	NM_015506.3(MMACHC):c.82-11_82-8del	MMACHC	Deletion (5 prime UTR variant +1 more)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 565977	NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)	MMACHC (W30R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 2195989	NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)	MMACHC (T47N)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease +1 more	GUncertain significance
Select item 2193091	NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)	MMACHC (T47I)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 1715296	NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)	MMACHC (A49T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 495216	NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	MMACHC (L53P)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease +1 more	GConflicting classifications of pathogenicity
Select item 1449631	NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)	MMACHC (S54R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 1946262	NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)	MMACHC (T55M)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease +1 more	GUncertain significance
Select item 203824	NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	MMACHC (R61W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 854802	NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	MMACHC (R4P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 533860	NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)	MMACHC (R61Q +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 1693904	NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)	MMACHC (M17I +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 2124193	NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)	MMACHC (C25Y +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 1922914	NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)	MMACHC (Y28S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 2078686	NM_015506.3(MMACHC):c.266G>A (p.Arg89His)	MMACHC (R89H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	MMACHC-related disorder +6 more	GPathogenic
Select item 556123	NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)	MMACHC (E92fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 161118	NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 161117	NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)	MMACHC (E92D +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
Select item 2177513	NM_015506.3(MMACHC):c.276+5G>A	MMACHC	Single nucleotide variant (intron variant)	Cobalamin C disease	GUncertain significance
Select item 297481	NM_015506.3(MMACHC):c.277-4C>G	MMACHC	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1947809	NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)	MMACHC (E39K +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 1377767	NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)	MMACHC (Y105del +1 more)	Deletion (inframe_deletion)	Cobalamin C disease	GUncertain significance
Select item 451076	NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)	MMACHC (D104V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203826	NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)	MMACHC (E106K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 964526	NM_015506.3(MMACHC):c.319G>A (p.Val107Met)	MMACHC (V107M +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 2504060	NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)	MMACHC (N110fs +1 more)	Indel (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 297482	NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)	MMACHC (P109L +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GConflicting classifications of pathogenicity
Select item 1304703	NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)	MMACHC	Indel (inframe_indel)	Cobalamin C disease +1 more	GUncertain significance
Select item 875417	NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)	MMACHC (N110S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GUncertain significance
Select item 775548	NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	MMACHC (R111Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 297483	NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)	MMACHC (R112C +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 2147684	NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)	MMACHC (I115V +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 1525862	NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)	MMACHC (L116V +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 1483982	NM_015506.3(MMACHC):c.346C>A (p.Leu116Met)	MMACHC (L59M +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 1422	NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	MMACHC (L116P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 834511	NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)	MMACHC	Deletion (inframe_deletion)	Cobalamin C disease	GUncertain significance
Select item 552478	NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)	MMACHC (A117P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 557293	NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	MMACHC (H122N +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GConflicting classifications of pathogenicity
Select item 1518038	NM_015506.3(MMACHC):c.366T>A (p.His122Gln)	MMACHC (H122Q +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 1349817	NM_015506.3(MMACHC):c.366T>G (p.His122Gln)	MMACHC (H65Q +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 203833	NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	MMACHC (Y130del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558102	NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	MMACHC (Y129fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 2085013	NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)	MMACHC (Y129H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 813350	NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)	MMACHC (Y73H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 297484	NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	MMACHC (Y130C +1 more)	Single nucleotide variant (missense variant)	MMACHC-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1469013	NM_015506.3(MMACHC):c.393A>C (p.Gln131His)	MMACHC (Q131H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 377366	NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)	MMACHC (R132Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 553801	NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)	MMACHC (Q133fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 297485	NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)	MMACHC (V135L +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 850981	NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)	MMACHC (E136K +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 203827	NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	MMACHC (W140* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 550731	NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)	MMACHC	Deletion (inframe_deletion)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 2068815	NM_015506.3(MMACHC):c.433del (p.Ile145fs)	MMACHC (I145fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 1455466	NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)	MMACHC (S146fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 1362501	NM_015506.3(MMACHC):c.434dup (p.Ser146fs)	MMACHC (S146fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 1328321	NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)	MMACHC (I145V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297486	NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)	MMACHC (I145L +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign
Select item 1463938	NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)	MMACHC (I88T +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GUncertain significance
Select item 2115578	NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)	MMACHC (G90R +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 1520764	NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser)	MMACHC (G147S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 203834	NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	MMACHC (C92fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease +1 more	GPathogenic
Select item 203829	NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	MMACHC (G147D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203828	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC (G147A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2864862	NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)	MMACHC (P152fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 1076507	NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)	MMACHC (I150K +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
Select item 550539	NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	MMACHC (R153* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 706370	NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)	MMACHC (R153Q +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GConflicting classifications of pathogenicity
Select item 2182102	NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)	MMACHC (F97L +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 2202759	NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)	MMACHC (G98R +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 161119	NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu)	MMACHC (G155E +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
Select item 1495958	NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)	MMACHC (G156S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 554696	NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)	MMACHC (G156D +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 553844	NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)	MMACHC (W157* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 203830	NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	MMACHC (F158L +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 2864373	NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)	MMACHC (I103fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2027786	NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)	MMACHC	Insertion (nonsense)	Cobalamin C disease	GPathogenic
Select item 813351	NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)	MMACHC (R161G +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 95703	NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	MMACHC (R161* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2013220	NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)	MMACHC (R104L +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely pathogenic
Select item 1425	NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	MMACHC (R161Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2627889	NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)	MMACHC (G105W +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
Select item 1369016	NM_015506.3(MMACHC):c.490G>A (p.Val164Met)	MMACHC (V107M +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 556532	NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	MMACHC (P167fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 553370	NM_015506.3(MMACHC):c.500del (p.Pro167fs)	MMACHC (P167fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2167371	NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)	MMACHC (G111E +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 556017	NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	MMACHC (E113fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 1452156	NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)	MMACHC (I112fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 949931	NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)	MMACHC (I112T +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 1454386	NM_015506.3(MMACHC):c.534del (p.Lys178fs)	MMACHC (K178fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2676620	NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)	MMACHC (C125* +1 more)	Duplication (nonsense)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 95704	NM_015506.3(MMACHC):c.547_548del (p.Val183fs)	MMACHC (V126fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1920833	NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)	MMACHC (V183I +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance

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