MMAA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 392376	NM_172250.3(MMAA):c.-71G>C	MMAA, LOC129993163	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria, cblA type +1 more	GConflicting classifications of pathogenicity
Select item 347594	NM_172250.3(MMAA):c.-69G>T	LOC129993163, MMAA	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 901474	NM_172250.3(MMAA):c.-68C>A	LOC129993163, MMAA	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 347595	NM_172250.3(MMAA):c.-68C>T	LOC129993163, MMAA	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 347596	NM_172250.3(MMAA):c.-66+10G>C	LOC129993163, MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1326747	NM_172250.3(MMAA):c.-66+36G>C	LOC129993163, MMAA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240548	NM_172250.3(MMAA):c.-66+52C>T	LOC129993163, MMAA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2429396	NM_172250.3(MMAA):c.-66+7915G>A	MMAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1226045	NM_172250.3(MMAA):c.-65-249A>C	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138236	NM_172250.3(MMAA):c.-56A>G	MMAA	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 383060	NM_172250.3(MMAA):c.-35A>T	MMAA	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 902093	NM_172250.3(MMAA):c.-14C>T	MMAA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 990260	NM_172250.3(MMAA):c.-4G>A	MMAA	Single nucleotide variant (5 prime UTR variant)	MMAA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 551711	NM_172250.3(MMAA):c.1A>G (p.Met1Val)	MMAA (M1V)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2983453	NM_172250.3(MMAA):c.6C>T (p.Pro2=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1479375	NM_172250.3(MMAA):c.7A>G (p.Met3Val)	MMAA (M3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 721629	NM_172250.3(MMAA):c.15A>G (p.Leu5=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 552349	NM_172250.3(MMAA):c.15_16del (p.Pro6fs)	MMAA (P6fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 1952800	NM_172250.3(MMAA):c.21T>C (p.His7=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1560678	NM_172250.3(MMAA):c.33T>C (p.His11=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1158925	NM_172250.3(MMAA):c.36C>T (p.Phe12=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1151002	NM_172250.3(MMAA):c.39A>C (p.Leu13=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2433759	NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)	MMAA (L16I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2676604	NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)	MMAA (L17*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2784202	NM_172250.3(MMAA):c.54A>G (p.Arg18=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2676600	NM_172250.3(MMAA):c.54del (p.Ala19fs)	MMAA (A19fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 705207	NM_172250.3(MMAA):c.57A>G (p.Ala19=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 218969	NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	MMAA (R22*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
Select item 1441093	NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)	MMAA (R22Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 990261	NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)	MMAA (R22L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 990262	NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)	MMAA (C23R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2032885	NM_172250.3(MMAA):c.72C>T (p.Tyr24=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 440795	NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	MMAA (Y24*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria of the cblA complementation type +1 more	GPathogenic
Select item 3214905	NM_172250.3(MMAA):c.75C>G (p.His25Gln)	MMAA (H25Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1079818	NM_172250.3(MMAA):c.78C>T (p.Phe26=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1542267	NM_172250.3(MMAA):c.81C>T (p.Ile27=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 990263	NM_172250.3(MMAA):c.86A>G (p.His29Arg)	MMAA (H29R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 990264	NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)	MMAA (S31N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2697930	NM_172250.3(MMAA):c.96T>A (p.Thr32=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1548143	NM_172250.3(MMAA):c.99T>C (p.His33=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 704775	NM_172250.3(MMAA):c.102C>T (p.Leu34=)	MMAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2676596	NM_172250.3(MMAA):c.112del (p.Ile38fs)	MMAA (I38fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 1558168	NM_172250.3(MMAA):c.117A>G (p.Pro39=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 554217	NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	MMAA (Q42*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 347597	NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)	MMAA (Q42E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1374022	NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)	MMAA (S46fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 347598	NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)	MMAA (P43L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 763758	NM_172250.3(MMAA):c.129G>A (p.Pro43=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 570176	NM_172250.3(MMAA):c.139_140del (p.Leu47fs)	MMAA (L47fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 262806	NM_172250.3(MMAA):c.138T>C (p.Ser46=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +2 more	GBenign
Select item 2866984	NM_172250.3(MMAA):c.144A>G (p.Gly48=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1533627	NM_172250.3(MMAA):c.150T>C (p.His50=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3019212	NM_172250.3(MMAA):c.156A>G (p.Thr52=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1154631	NM_172250.3(MMAA):c.159G>A (p.Lys53=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 218970	NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	MMAA (W54*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 1083032	NM_172250.3(MMAA):c.166C>T (p.Leu56=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1646623	NM_172250.3(MMAA):c.168G>A (p.Leu56=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1533960	NM_172250.3(MMAA):c.168G>T (p.Leu56=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 758572	NM_172250.3(MMAA):c.169C>T (p.Leu57=)	MMAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999235	NM_172250.3(MMAA):c.170del (p.Leu57fs)	MMAA (L57fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 663137	NM_172250.3(MMAA):c.175G>C (p.Asp59His)	MMAA (D59H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1649533	NM_172250.3(MMAA):c.177T>C (p.Asp59=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2057282	NM_172250.3(MMAA):c.184_185del (p.Lys62fs)	MMAA (K62fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2441443	NM_172250.3(MMAA):c.188_189del (p.Arg63fs)	MMAA (R63fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2160127	NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)	MMAA (K62R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2917483	NM_172250.3(MMAA):c.186G>A (p.Lys62=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2920076	NM_172250.3(MMAA):c.195A>G (p.Leu65=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2706447	NM_172250.3(MMAA):c.198T>C (p.Cys66=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2718187	NM_172250.3(MMAA):c.201A>G (p.Val67=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 440796	NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)	MMAA (Q68*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1623850	NM_172250.3(MMAA):c.204A>G (p.Gln68=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 556914	NM_172250.3(MMAA):c.206del (p.Thr69fs)	MMAA (T69fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 990265	NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)	MMAA (T70P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 760064	NM_172250.3(MMAA):c.222C>T (p.His74=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1564541	NM_172250.3(MMAA):c.240T>C (p.Asp80=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1547830	NM_172250.3(MMAA):c.246G>A (p.Glu82=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2557123	NM_172250.3(MMAA):c.247C>A (p.Gln83Lys)	MMAA (Q83K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2676603	NM_172250.3(MMAA):c.255del (p.Phe85fs)	MMAA (F85fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 1151010	NM_172250.3(MMAA):c.255T>C (p.Phe85=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 1111725	NM_172250.3(MMAA):c.258G>A (p.Val86=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2676607	NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)	MMAA (Y90fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 3157	NM_172250.3(MMAA):c.260_261insATAAACTT (p.Asp87delinsGluTer)	MMAA	Insertion (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2816032	NM_172250.3(MMAA):c.264A>G (p.Lys88=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 440797	NM_172250.3(MMAA):c.267_268del (p.Thr91fs)	MMAA (T91fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 218971	NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	MMAA (L89P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 990266	NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)	MMAA (Y90F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2506383	NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)	MMAA	Deletion (inframe_indel)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3158	NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	MMAA (Q95*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GPathogenic
Select item 2128629	NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)	MMAA (Q95R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance

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