ClinVar for MedGen (Select 443950) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2050562	NM_000709.4(BCKDHA):c.673C>T (p.Arg225Trp)	BCKDHA (R225W)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
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 1053503	NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)	BCKDHA (P170S)	Single nucleotide variant (missense variant)	not specified +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	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 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	GUncertain significance
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 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 794247	NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)	BCKDHA	Single nucleotide variant (synonymous variant)	BCKDHA-related condition +1 more	GLikely benign
Select item 792555	NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 766671	NM_000709.4(BCKDHA):c.693C>T (p.Val231=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 765210	NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 764670	NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	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)	DBT-related condition +2 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)	Inborn genetic diseases +1 more	GLikely benign
Select item 714807	NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)	BCKDHA	Single nucleotide variant (synonymous variant)	BCKDHA-related condition +1 more	GLikely benign
Select item 709510	NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 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)	Maple syrup urine disease +1 more	GLikely benign
Select item 652667	NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu)	BCKDHA (F263L)	Single nucleotide variant (missense variant)	Maple syrup urine disease	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 578797	NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val)	BCKDHA (A219V)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 558389	NM_000709.4(BCKDHA):c.718del (p.Ala240fs)	BCKDHA (A240fs)	Deletion (frameshift variant)	Maple syrup urine disease	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 553989	NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)	BCKDHA (R287* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 500713	NM_000709.4(BCKDHA):c.854-2A>G	BCKDHA	Single nucleotide variant (splice acceptor variant +1 more)	Maple syrup urine disease +1 more	GPathogenic
Select item 457143	NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)	BCKDHA (R117C)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely pathogenic
Select item 457142	NM_000709.4(BCKDHA):c.1167+4A>C	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease	GUncertain significance
Select item 439589	NM_001918.5(DBT):c.1282-14_1282-9del	DBT	Deletion (intron variant)	Maple syrup urine disease type 1A +2 more	GBenign/Likely benign
Select item 439588	NM_001918.5(DBT):c.1210-10del	DBT	Deletion (intron variant)	Maple syrup urine disease type 1A +3 more	GBenign
Select item 431986	NM_000709.4(BCKDHA):c.1168-2A>G	BCKDHA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 390051	NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser)	BCKDHA (N352S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 385661	NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 329368	NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys)	BCKDHA (E398K +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 329364	NM_000709.4(BCKDHA):c.648G>T (p.Ala216=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 329361	NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 329360	NM_000709.4(BCKDHA):c.288+10G>A	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease +1 more	GBenign/Likely benign
Select item 329359	NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)	BCKDHA (Q53H)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 329357	NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	BCKDHA	Single nucleotide variant (synonymous variant)	BCKDHA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 224072	NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)	BCKDHA (R314* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease +1 more	GPathogenic
Select item 198748	NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 198433	NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)	BCKDHA (G288fs +1 more)	Deletion (frameshift variant)	Maple syrup urine disease type 1A +2 more	GPathogenic
Select item 166981	NM_001918.5(DBT):c.1210-4del	DBT	Deletion (intron variant)	not specified +2 more	GBenign
Select item 166741	NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 128885	NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)	DBT	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 100009	NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	BCKDHA (Y438N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 94011	NM_001918.5(DBT):c.724T>C (p.Ser242Pro)	DBT (S242P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 93998	NM_001918.5(DBT):c.251+19dup	DBT	Duplication (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 93390	NM_000709.4(BCKDHA):c.996-6G>A	BCKDHA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 93388	NM_000709.4(BCKDHA):c.995+9C>T	BCKDHA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 93385	NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)	BCKDHA (E327K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93384	NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 93383	NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 93382	NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 93380	NM_000709.4(BCKDHA):c.917del (p.Val306fs)	BCKDHA (V305fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93375	NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	BCKDHA (A285P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 93372	NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)	BCKDHA (F263del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93369	NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 93367	NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	BCKDHA (A220V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 93366	NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)	BCKDHA	Single nucleotide variant (synonymous variant)	BCKDHA-related condition +3 more	GBenign
Select item 93365	NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	BCKDHA (T211M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 93362	NM_000709.4(BCKDHA):c.484+5G>A	BCKDHA	Single nucleotide variant (intron variant)	BCKDHA-related condition +3 more	GBenign
Select item 93361	NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)	BCKDHA (T151M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 93359	NM_000709.4(BCKDHA):c.376-4C>T	BCKDHA	Single nucleotide variant (intron variant)	BCKDHA-related condition +2 more	GBenign
Select item 93357	NM_000709.4(BCKDHA):c.376-10A>C	BCKDHA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 93355	NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 93354	NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)	BCKDHA (D116G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93353	NM_000709.4(BCKDHA):c.288C>T (p.His96=)	BCKDHA	Single nucleotide variant (synonymous variant)	BCKDHA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 93352	NM_000709.4(BCKDHA):c.288+9C>T	BCKDHA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93351	NM_000709.4(BCKDHA):c.288+1G>A	BCKDHA	Single nucleotide variant (splice donor variant)	Maple syrup urine disease type 1A +2 more	GPathogenic
Select item 93345	NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 93344	NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	BCKDHA (V412M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 93343	NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 93342	NM_000709.4(BCKDHA):c.117del (p.Arg40fs)	BCKDHA (R40fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 93341	NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)	BCKDHA (P39H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 93338	NM_000709.4(BCKDHA):c.114C>T (p.Pro38=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 93337	NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)	BCKDHA	Single nucleotide variant (synonymous variant)	BCKDHA-related condition +4 more	GBenign/Likely benign
Select item 2377	NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	BCKDHA (G289R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 97