ClinVar for Gene (Select 594) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018334	NM_183050.4(BCKDHB):c.634-16A>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3018103	NM_183050.4(BCKDHB):c.634-13T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3018102	NM_183050.4(BCKDHB):c.634-14del	BCKDHB	Deletion (intron variant)	Maple syrup urine disease	GBenign
Select item 3006383	NM_183050.4(BCKDHB):c.343+17A>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3004088	NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)	BCKDHB (D311V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 3001890	NM_183050.4(BCKDHB):c.970C>A (p.Arg324=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 3000411	NM_183050.4(BCKDHB):c.743-15C>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2998388	NM_183050.4(BCKDHB):c.274+13T>C	BCKDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2994495	NM_183050.4(BCKDHB):c.634-4G>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2994195	NM_183050.4(BCKDHB):c.478-17T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2993405	NM_183050.4(BCKDHB):c.561C>T (p.Gly187=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2992492	NM_183050.4(BCKDHB):c.841-1G>T	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2989842	NM_183050.4(BCKDHB):c.274+8T>C	BCKDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2989113	NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2987726	NM_183050.4(BCKDHB):c.1039-17C>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2982268	NM_183050.4(BCKDHB):c.75del (p.Leu26fs)	BCKDHB (L26fs)	Deletion (frameshift variant +3 more)	Maple syrup urine disease	GPathogenic
Select item 2978650	NM_183050.4(BCKDHB):c.478-16T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2971936	NM_183050.4(BCKDHB):c.840+20A>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2969992	NM_183050.4(BCKDHB):c.96G>C (p.Ala32=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2969955	NM_183050.4(BCKDHB):c.951+11A>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2969317	NM_183050.4(BCKDHB):c.478-13_478-10del	BCKDHB	Microsatellite (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2967881	NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2967284	NM_183050.4(BCKDHB):c.478-15C>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2955837	NM_183050.4(BCKDHB):c.840+15dup	BCKDHB	Duplication (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2920019	NM_183050.4(BCKDHB):c.743-19T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2917683	NM_183050.4(BCKDHB):c.477+19C>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2916844	NM_183050.4(BCKDHB):c.197-15_197-14insA	BCKDHB	Insertion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2916755	NM_183050.4(BCKDHB):c.1029T>C (p.Ser343=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2915205	NM_183050.4(BCKDHB):c.336C>T (p.Asp112=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2914536	NM_183050.4(BCKDHB):c.426T>C (p.Thr142=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2914211	NM_183050.4(BCKDHB):c.275-20A>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2912899	NM_183050.4(BCKDHB):c.633+14T>C	BCKDHB (M216T)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2910201	NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)	BCKDHB (L155V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 2908226	NM_183050.4(BCKDHB):c.275-12A>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2905078	NM_183050.4(BCKDHB):c.275-5T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2901299	NM_183050.4(BCKDHB):c.196+20A>T	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2895687	NM_183050.4(BCKDHB):c.478-11C>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2890431	NM_183050.4(BCKDHB):c.477+15_477+16insAA	BCKDHB	Insertion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2889200	NM_183050.4(BCKDHB):c.197-11G>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2888167	NM_183050.4(BCKDHB):c.1038+20T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2886431	NM_183050.4(BCKDHB):c.742+18T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2886376	NM_183050.4(BCKDHB):c.31C>T (p.Leu11=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2880664	NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2878053	NM_183050.4(BCKDHB):c.510C>T (p.Arg170=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2874404	NM_183050.4(BCKDHB):c.780G>C (p.Leu260=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2872163	NM_183050.4(BCKDHB):c.743-19T>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2868224	NM_183050.4(BCKDHB):c.235del (p.Ser79fs)	BCKDHB (S9fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 2861682	NM_183050.4(BCKDHB):c.478-19C>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2861159	NM_183050.4(BCKDHB):c.743-17T>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2860352	NM_183050.4(BCKDHB):c.743-15C>T	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2860138	NM_183050.4(BCKDHB):c.275-8T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2855843	NM_183050.4(BCKDHB):c.952-13T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2855131	NM_183050.4(BCKDHB):c.742+17T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2851841	NM_183050.4(BCKDHB):c.634-20A>T	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2849490	NM_183050.4(BCKDHB):c.477+20T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2847677	NM_183050.4(BCKDHB):c.549G>C (p.Arg183=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2847054	NM_183050.4(BCKDHB):c.1062G>A (p.Glu354=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2846220	NM_183050.4(BCKDHB):c.1039-15T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2844311	NM_183050.4(BCKDHB):c.274+2T>C	BCKDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2843844	NM_183050.4(BCKDHB):c.267T>G (p.Pro89=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2841079	NM_183050.4(BCKDHB):c.952-5T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2840957	NM_183050.4(BCKDHB):c.477+13A>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2840484	NM_183050.4(BCKDHB):c.907_910dup (p.Leu304fs)	BCKDHB (L234fs +1 more)	Duplication (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 2840141	NM_183050.4(BCKDHB):c.343+16T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2835860	NM_183050.4(BCKDHB):c.975G>T (p.Leu325=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2833211	NM_183050.4(BCKDHB):c.344-19T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2831843	NM_183050.4(BCKDHB):c.634-12C>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2829004	NM_183050.4(BCKDHB):c.1038+20T>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2826296	NM_183050.4(BCKDHB):c.478-4T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2820952	NM_183050.4(BCKDHB):c.274+1G>T	BCKDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 2816017	NM_183050.4(BCKDHB):c.549G>T (p.Arg183=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2814093	NM_183050.4(BCKDHB):c.81T>C (p.Pro27=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2812955	NM_183050.4(BCKDHB):c.841-2A>G	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2812375	NM_183050.4(BCKDHB):c.196+11G>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2812203	NM_183050.4(BCKDHB):c.840+8G>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2806672	NM_183050.4(BCKDHB):c.477+14C>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2802320	NM_183050.4(BCKDHB):c.840+12T>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2799026	NM_183050.4(BCKDHB):c.196+13A>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2798713	NM_183050.4(BCKDHB):c.756_759del (p.Ile253fs)	BCKDHB (I183fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 2798370	NM_183050.4(BCKDHB):c.525del (p.Phe175fs)	BCKDHB (F105fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 2798369	NM_183050.4(BCKDHB):c.508_513del (p.Arg170_Ser171del)	BCKDHB	Deletion (inframe_deletion +1 more)	Maple syrup urine disease	GPathogenic
Select item 2798260	NM_183050.4(BCKDHB):c.969G>A (p.Gly323=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2795361	NM_183050.4(BCKDHB):c.123T>G (p.Thr41=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2795341	NM_183050.4(BCKDHB):c.742+12C>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2786864	NM_183050.4(BCKDHB):c.681A>G (p.Ser227=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2781138	NM_183050.4(BCKDHB):c.552C>T (p.Ser184=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2778340	NM_183050.4(BCKDHB):c.39G>A (p.Arg13=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2767925	NM_183050.4(BCKDHB):c.196+10G>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2763658	NM_183050.4(BCKDHB):c.141G>A (p.Gln47=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2761180	NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)	BCKDHB (W23*)	Single nucleotide variant (nonsense +3 more)	Maple syrup urine disease	GPathogenic
Select item 2757662	NM_183050.4(BCKDHB):c.743-12T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2754774	NM_183050.4(BCKDHB):c.780G>A (p.Leu260=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2752541	NM_183050.4(BCKDHB):c.1039-13A>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2751872	NM_183050.4(BCKDHB):c.903C>T (p.Val301=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2749026	NM_183050.4(BCKDHB):c.880_881dup (p.Leu295fs)	BCKDHB (L225fs +1 more)	Duplication (non-coding transcript variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 2748683	NM_183050.4(BCKDHB):c.477+10T>A	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2746405	NM_183050.4(BCKDHB):c.708A>C (p.Ile236=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2741568	NM_183050.4(BCKDHB):c.275-16A>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2739298	NM_183050.4(BCKDHB):c.275-20A>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2735117	NM_183050.4(BCKDHB):c.743-20T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign

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