ClinVar for MedGen (Select 383668) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242001	NM_183050.4(BCKDHB):c.575G>A (p.Gly192Glu)	BCKDHB (G122E +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A	GUncertain significance
Select item 3241278	NM_001918.5(DBT):c.939+2del	DBT	Deletion (splice donor variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3241277	NM_001918.5(DBT):c.713del (p.Pro238fs)	DBT (P238fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease type 1A	GPathogenic
Select item 3241276	NM_001918.5(DBT):c.917_918delinsT (p.Ser306fs)	DBT (S125fs +1 more)	Indel (frameshift variant +1 more)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240921	NM_183050.4(BCKDHB):c.580_583del (p.Leu194fs)	BCKDHB (L124fs +1 more)	Microsatellite (frameshift variant +1 more)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240920	NM_183050.4(BCKDHB):c.41_51dup (p.Gly18fs)	BCKDHB (G18fs)	Duplication (frameshift variant +3 more)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240919	NM_183050.4(BCKDHB):c.975del (p.Leu325_Leu326insTer)	BCKDHB	Deletion (frameshift variant +1 more)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240918	NM_183050.4(BCKDHB):c.792dup (p.Val265fs)	BCKDHB (V195fs +1 more)	Duplication (frameshift variant +1 more)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240917	NM_000709.4(BCKDHA):c.1032_1035del (p.Tyr345fs)	BCKDHA (Y344fs +1 more)	Deletion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240916	NM_000709.4(BCKDHA):c.118dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240915	NM_000709.4(BCKDHA):c.116_117insA (p.Arg40fs)	BCKDHA (R40fs)	Insertion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240914	NM_000709.4(BCKDHA):c.131_133dup (p.Phe45Ter)	BCKDHA (F45*)	Duplication (nonsense)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240913	NM_000709.4(BCKDHA):c.673del (p.Arg225fs)	BCKDHA (R225fs)	Deletion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240912	NM_000709.4(BCKDHA):c.376-2A>C	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3064967	NM_000709.4(BCKDHA):c.968C>A (p.Pro323His)	BCKDHA (P322H +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A	GUncertain significance
Select item 3064557	NM_000709.4(BCKDHA):c.1137_1165del (p.Lys380fs)	BCKDHA (K379fs +1 more)	Deletion (frameshift variant)	Maple syrup urine disease type 1A	GUncertain significance
Select item 2694323	NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)	BCKDHB (G108* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 2680141	NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)	BCKDHB (F267fs +1 more)	Duplication (frameshift variant +1 more)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 2680137	NM_183050.4(BCKDHB):c.634-2A>G	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease +1 more	GLikely pathogenic
Select item 2680136	NM_183050.4(BCKDHB):c.843dup (p.His282fs)	BCKDHB (H212fs +1 more)	Duplication (frameshift variant +1 more)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 2680133	NM_183050.4(BCKDHB):c.803_806del (p.Glu268fs)	BCKDHB (E198fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease type 1A	GPathogenic
Select item 2680132	NM_183050.4(BCKDHB):c.784del (p.Gln262fs)	BCKDHB (Q192fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 2680131	NM_183050.4(BCKDHB):c.550del (p.Ser184fs)	BCKDHB (S114fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease +1 more	GPathogenic
Select item 2680124	NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)	BCKDHA (G143fs)	Duplication (frameshift variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 2680120	NM_000709.4(BCKDHA):c.996-1G>A	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 2680113	NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)	BCKDHA (G162D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2674736	NM_001918.5(DBT):c.505C>T (p.Arg169Ter)	DBT (R169*)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease type 2 +1 more	GLikely pathogenic
Select item 2147982	NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys)	BCKDHB (Y125C +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A +1 more	GLikely pathogenic
Select item 2136446	NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys)	BCKDHB (Y186C +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +1 more	GLikely pathogenic
Select item 2136445	NM_183050.4(BCKDHB):c.662_663del (p.Ala221fs)	BCKDHB (A151fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease type 1A +1 more	GPathogenic
Select item 2093596	NM_183050.4(BCKDHB):c.101del (p.Gly34fs)	BCKDHB (G34fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 2050562	NM_000709.4(BCKDHA):c.673C>T (p.Arg225Trp)	BCKDHA (R225W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1947506	NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)	BCKDHB (R118fs +1 more)	Duplication (frameshift variant +1 more)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 1929553	NM_000709.4(BCKDHA):c.995+1G>A	BCKDHA	Single nucleotide variant (splice donor variant)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 1700433	NM_000709.4(BCKDHA):c.996-26A>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease type 1A +3 more	GConflicting classifications of pathogenicity
Select item 1487606	NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys)	BCKDHB (I214K +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +1 more	GPathogenic
Select item 1457763	NM_183050.4(BCKDHB):c.477+1G>A	BCKDHB	Single nucleotide variant (splice donor variant)	Maple syrup urine disease +1 more	GPathogenic
Select item 1407094	NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val)	BCKDHB (G131V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 1344509	NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)	BCKDHA (Y437H +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 1334170	NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)	BCKDHA (R286G +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 1323975	NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	BCKDHA (A216V)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 1090704	NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val)	BCKDHA (A59V)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely benign
Select item 1088802	NM_000709.4(BCKDHA):c.115C>T (p.Pro39Ser)	BCKDHA (P39S)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely benign
Select item 1065902	NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)	BCKDHA (R265Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 1053503	NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)	BCKDHA (P170S)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 1035138	NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln)	BCKDHA (R316Q +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 1024613	NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His)	BCKDHA (R420H +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 1015529	NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp)	BCKDHA (R398W +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 990529	NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 990528	NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 990527	NM_000709.4(BCKDHA):c.428G>A (p.Gly143Glu)	BCKDHA (G143E)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A	GUncertain significance
Select item 983638	NM_001918.5(DBT):c.961C>T (p.Gln321Ter)	DBT (Q321*)	Single nucleotide variant (nonsense)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 983563	NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)	BCKDHA (E238*)	Single nucleotide variant (nonsense)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 977617	NM_001918.5(DBT):c.252G>T (p.Trp84Cys)	DBT (W84C)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 972611	NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp)	BCKDHA (G16D)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 970887	NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys)	BCKDHA (R15C)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 970723	NM_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp)	BCKDHA (R364W +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 967678	NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser)	BCKDHA (N150S)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 965929	NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)	BCKDHA (R364Q +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +1 more	GConflicting classifications of pathogenicity
Select item 959196	NM_183050.4(BCKDHB):c.951+1G>A	BCKDHB	Single nucleotide variant (splice donor variant)	Maple syrup urine disease type 1A +1 more	GLikely pathogenic
Select item 957223	NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 950733	NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His)	BCKDHA (Y306H +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 950042	NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu)	BCKDHA (F45L)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 934307	NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)	BCKDHA (Y120C)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 928847	NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter)	BCKDHB (R111* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 1A +2 more	GPathogenic
Select item 894372	NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr)	BCKDHA (A222T)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 838288	NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)	BCKDHB (Y125fs +1 more)	Duplication (frameshift variant +1 more)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 794247	NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 792555	NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 766671	NM_000709.4(BCKDHA):c.693C>T (p.Val231=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 765210	NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 764670	NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 736694	NM_000709.4(BCKDHA):c.606C>T (p.Phe202=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 732140	NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 729265	NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 724214	NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 723169	NM_001918.5(DBT):c.1282-13_1282-9del	DBT	Deletion (intron variant)	Maple syrup urine disease type 1A +1 more	GBenign/Likely benign
Select item 722083	NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 719481	NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 714807	NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 709510	NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 703003	NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 681460	NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 652667	NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu)	BCKDHA (F263L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 651417	NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)	BCKDHA (A417T +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 623330	NM_001918.5(DBT):c.1281+1G>T	DBT	Single nucleotide variant (splice donor variant)	Maple syrup urine disease type 1A	GPathogenic
Select item 578797	NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val)	BCKDHA (A219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 568561	NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)	BCKDHB (H22fs)	Duplication (non-coding transcript variant +2 more)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 558581	NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)	BCKDHA (R363W +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 558389	NM_000709.4(BCKDHA):c.718del (p.Ala240fs)	BCKDHA (A240fs)	Deletion (frameshift variant)	Maple syrup urine disease type 1A +1 more	GPathogenic
Select item 558191	NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	BCKDHA (A253T)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 557742	NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)	BCKDHA	Deletion (inframe_indel)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 557703	NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	BCKDHA (H335fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557560	NM_001918.5(DBT):c.634C>T (p.Gln212Ter)	DBT (Q212*)	Single nucleotide variant (nonsense)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 556079	NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)	BCKDHB (P356L +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A +1 more	GPathogenic
Select item 555909	NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	BCKDHB (R387* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease +2 more	GPathogenic
Select item 555477	NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)	BCKDHA (R297C +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +2 more	GConflicting classifications of pathogenicity
Select item 553989	NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)	BCKDHA (R287* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease +1 more	GPathogenic
Select item 552910	NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	DBT (I401T)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 550562	NM_183050.4(BCKDHB):c.952-2A>G	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 1A +1 more	GLikely pathogenic

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