ClinVar for MedGen (Select 343337) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1342860	NM_001918.5(DBT):c.916T>C (p.Ser306Pro)	DBT (S306P)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GPathogenic
Select item 635311	NM_001918.5(DBT):c.1190C>T (p.Thr397Ile)	DBT (T397I)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 2	GUncertain significance
Select item 635310	NM_001918.5(DBT):c.898del (p.Ala300fs)	DBT (A300fs)	Deletion (frameshift variant)	Maple syrup urine disease type 2	GPathogenic
Select item 195158	NM_001918.5(DBT):c.137A>G (p.Lys46Arg)	DBT (K46R)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 2 +1 more	GUncertain significance
Select item 94017	NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	DBT (K313N)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 2 +2 more	GPathogenic/Likely pathogenic
Select item 94009	NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	DBT (E224*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 11953	NM_001918.5(DBT):c.581C>G (p.Ser194Ter)	DBT (S194*)	Single nucleotide variant (nonsense)	Maple syrup urine disease type 2	GPathogenic
Select item 11952	NM_001918.5(DBT):c.1355A>G (p.His452Arg)	DBT (H452R)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 2	GPathogenic
Select item 11951	NM_001918.3(DBT):c.1282-4142_*(434_435)del	DBT	Deletion	Maple syrup urine disease type 2	GPathogenic
Select item 11950	NM_001918.5(DBT):c.75_76del (p.Cys26fs)	DBT (C26fs)	Deletion (frameshift variant)	Maple syrup urine disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 11949	NM_001918.5(DBT):c.1150= (p.Ser384=)	DBT	Single nucleotide variant (no sequence alteration)	Maple syrup urine disease	GBenign
Select item 11948	NM_001918.5(DBT):c.294C>G (p.Ile98Met)	DBT (I98M)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 2	GPathogenic
Select item 11947	NM_001918.5(DBT):c.1448G>T (p.Ter483Leu)	DBT	Single nucleotide variant (stop lost)	Maple syrup urine disease type 2	GPathogenic
Select item 11946	NM_001918.5(DBT):c.1018-550A>G	DBT	Single nucleotide variant (intron variant)	DBT-related condition +1 more	GConflicting classifications of pathogenicity
Select item 11945	NM_001918.5(DBT):c.1017+1del	DBT	Deletion (splice donor variant)	Maple syrup urine disease type 2	GPathogenic
Select item 11944	NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA	DBT	Insertion	Maple syrup urine disease type 2	GPathogenic
Select item 11943	NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	DBT (F276C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 11942	NM_001918.3:c.48_171del	DBT	Deletion	Maple syrup urine disease type 2	GPathogenic

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Items: 22