DBT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 1292562	NC_000001.11:g.100186848_100186849insACACAT	DBT	Insertion	not provided	GBenign
Select item 1290738	NC_000001.11:g.100186848_100186849insAT	DBT	Insertion	not provided	GBenign
Select item 1261349	NC_000001.11:g.100186848C>T	DBT	Single nucleotide variant	not provided	GBenign
Select item 1257431	NC_000001.11:g.100186848_100186849insACAT	DBT	Insertion	not provided	GBenign
Select item 874240	NM_001918.5(DBT):c.*9230T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 874241	NM_001918.5(DBT):c.*9228C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291373	NM_001918.5(DBT):c.9153_9156del	DBT	Deletion (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 875164	NM_001918.5(DBT):c.*9123A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291374	NM_001918.5(DBT):c.*9105A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291375	NM_001918.5(DBT):c.*9082C>T	DBT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291376	NM_001918.5(DBT):c.*9058C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291377	NM_001918.5(DBT):c.*8983dup	DBT	Duplication (3 prime UTR variant)	Maple syrup urine disease	GLikely benign
Select item 291378	NM_001918.5(DBT):c.*8977T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GBenign
Select item 875165	NM_001918.5(DBT):c.*8944A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GBenign
Select item 291379	NM_001918.5(DBT):c.*8900A>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 875166	NM_001918.5(DBT):c.*8830T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291380	NM_001918.5(DBT):c.*8734A>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876134	NM_001918.5(DBT):c.*8670A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876135	NM_001918.5(DBT):c.*8663T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291381	NM_001918.5(DBT):c.*8642C>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291382	NM_001918.5(DBT):c.*8607G>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GLikely benign
Select item 291383	NM_001918.5(DBT):c.*8554dup	DBT	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1195364	NM_001918.5(DBT):c.*8554del	DBT	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 291384	NM_001918.5(DBT):c.8552_8553insT	DBT	Insertion (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876136	NM_001918.5(DBT):c.*8552A>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 876137	NM_001918.5(DBT):c.*8471T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291385	NM_001918.5(DBT):c.*8385A>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291386	NM_001918.5(DBT):c.*8275A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291387	NM_001918.5(DBT):c.*8226G>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876272	NM_001918.5(DBT):c.*8118T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876273	NM_001918.5(DBT):c.*8083C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876274	NM_001918.5(DBT):c.*8080C>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876275	NM_001918.5(DBT):c.*8074G>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291388	NM_001918.5(DBT):c.*8073C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876276	NM_001918.5(DBT):c.*7942G>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 874285	NM_001918.5(DBT):c.*7698C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GLikely benign
Select item 874286	NM_001918.5(DBT):c.*7690T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 1258977	NM_001918.5(DBT):c.7679_7681dup	DBT	Duplication (3 prime UTR variant)	not provided	GBenign
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 874288	NM_001918.5(DBT):c.*7369G>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 874289	NM_001918.5(DBT):c.*7358C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GBenign
Select item 291389	NM_001918.5(DBT):c.*7307G>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GLikely benign
Select item 874290	NM_001918.5(DBT):c.*7223C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291390	NM_001918.5(DBT):c.*7187G>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 1200821	NM_001918.5(DBT):c.6902_6903del	DBT	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 291392	NM_001918.5(DBT):c.*6903T>A	DBT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291391	NM_001918.5(DBT):c.*6903del	DBT	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875221	NM_001918.5(DBT):c.*6902T>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291393	NM_001918.5(DBT):c.*6901T>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 875223	NM_001918.5(DBT):c.*6771A>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 875222	NM_001918.5(DBT):c.*6771A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 875224	NM_001918.5(DBT):c.*6716C>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GLikely benign
Select item 291394	NM_001918.5(DBT):c.*6646G>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease +1 more	GBenign
Select item 875225	NM_001918.5(DBT):c.*6413C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876177	NM_001918.5(DBT):c.*6270A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291395	NM_001918.5(DBT):c.*6228A>T	DBT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291396	NM_001918.5(DBT):c.6114_6115del	DBT	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876178	NM_001918.5(DBT):c.*5969C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GLikely benign
Select item 876179	NM_001918.5(DBT):c.*5959A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291397	NM_001918.5(DBT):c.*5919A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease +1 more	GBenign/Likely benign
Select item 291398	NM_001918.5(DBT):c.*5877G>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291399	NM_001918.5(DBT):c.*5875T>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291400	NM_001918.5(DBT):c.*5838G>A	DBT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 876321	NM_001918.5(DBT):c.*5784T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291401	NM_001918.5(DBT):c.*5638C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291402	NM_001918.5(DBT):c.*5591T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291403	NM_001918.5(DBT):c.*5561A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291404	NM_001918.5(DBT):c.*5546G>A	DBT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 876322	NM_001918.5(DBT):c.*5380G>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876323	NM_001918.5(DBT):c.*5347C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GBenign
Select item 291405	NM_001918.5(DBT):c.*5328C>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291406	NM_001918.5(DBT):c.*5317T>C	DBT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291407	NM_001918.5(DBT):c.*5150A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease +1 more	GBenign
Select item 291408	NM_001918.5(DBT):c.*4872A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GBenign
Select item 874351	NM_001918.5(DBT):c.*4864C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 874352	NM_001918.5(DBT):c.*4688G>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 875275	NM_001918.5(DBT):c.*4576G>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 874353	NM_001918.5(DBT):c.*4576G>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 1251386	NM_001918.5(DBT):c.4480_4507del	DBT	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1250744	NM_001918.5(DBT):c.4478_4507del	DBT	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1228726	NM_001918.5(DBT):c.4482_4507del	DBT	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 291409	NM_001918.5(DBT):c.*4507T>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291410	NM_001918.5(DBT):c.*4506A>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GBenign
Select item 1327257	NM_001918.5(DBT):c.*4448GT[19]	DBT	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 291411	NM_001918.5(DBT):c.*4446C>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 875276	NM_001918.5(DBT):c.*4425C>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291412	NM_001918.5(DBT):c.*4395G>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease +1 more	GBenign
Select item 291413	NM_001918.5(DBT):c.*4377C>G	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291414	NM_001918.5(DBT):c.*4321G>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876231	NM_001918.5(DBT):c.*4313G>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876232	NM_001918.5(DBT):c.*4291C>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291415	NM_001918.5(DBT):c.*4281del	DBT	Deletion (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291416	NM_001918.5(DBT):c.*4273C>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GLikely benign
Select item 876233	NM_001918.5(DBT):c.*4250C>T	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876234	NM_001918.5(DBT):c.*4237A>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 291417	NM_001918.5(DBT):c.*4124C>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 876235	NM_001918.5(DBT):c.*4094C>A	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GBenign

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