Related gene-specific medical variations for Gene (Select 1629) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247645	NC_000001.10:g.(?_100661892)_(100681288_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 3247644	NC_000001.11:g.(?_100240741)_(100240904_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 3247643	NC_000001.10:g.(?_100661811)_(100661998_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 3247642	NC_000001.10:g.(?_100715306)_(100715376_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
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 3239660	NM_001918.5(DBT):c.176-1G>A	DBT	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3239659	NM_001918.5(DBT):c.881T>G (p.Leu294Ter)	DBT (L113* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3233387	NM_001918.5(DBT):c.1281+3A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease type 2	GUncertain significance
Select item 3233363	NM_001918.5(DBT):c.1274C>G (p.Ser425Ter)	DBT (S244* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3065883	NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)	DBT (S268* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3065184	NM_001918.5(DBT):c.1199A>G (p.Asn400Ser)	DBT (N219S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3064163	NM_001918.5(DBT):c.30G>A (p.Trp10Ter)	DBT (W10*)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 2674740	NM_001918.5(DBT):c.511_512insG (p.Thr171fs)	DBT (T171fs)	Insertion (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2674739	NM_001918.5(DBT):c.535del (p.Arg179fs)	DBT (R179fs)	Deletion (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2674738	NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)	DBT (Q197* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease	GPathogenic
Select item 2674737	NM_001918.5(DBT):c.1385del (p.Arg462fs)	DBT (R281fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
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 1A +1 more	GLikely pathogenic
Select item 2674734	NM_001918.5(DBT):c.1274C>A (p.Ser425Ter)	DBT (S244* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2674733	NM_001918.5(DBT):c.394G>A (p.Gly132Arg)	DBT (G132R)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2674731	NM_001918.5(DBT):c.1240del (p.Met414fs)	DBT (M233fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2674730	NM_001918.5(DBT):c.252-2A>G	DBT	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2674729	NM_001918.5(DBT):c.252-2A>T	DBT	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2674728	NM_001918.5(DBT):c.136_137insTGACTATACTTCATTCA (p.Lys46fs)	DBT (K46fs)	Microsatellite (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2440708	NM_001918.5(DBT):c.500A>C (p.Lys167Thr)	DBT (K167T)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 1322190	NM_001918.5(DBT):c.52-1G>C	DBT	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GPathogenic
Select item 958003	NC_000001.11:g.100196336_100215732del	DBT	Deletion	Maple syrup urine disease	GLikely pathogenic
Select item 931508	NM_001918.5(DBT):c.391G>A (p.Val131Met)	DBT (V131M)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 874287	NM_001918.5(DBT):c.*7469T>C	DBT, LOC129931021	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 11944	NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA	DBT	Insertion	Maple syrup urine disease type 2	GPathogenic
Select item 11942	NM_001918.3:c.48_171del	DBT	Deletion	Maple syrup urine disease type 2	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32