CABYR[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262660	NM_153769.3(CABYR):c.20G>T (p.Arg7Ile)	CABYR (R7I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285625	NM_153769.3(CABYR):c.223A>T (p.Thr75Ser)	CABYR (T57S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2289045	NM_153769.3(CABYR):c.226C>T (p.Pro76Ser)	CABYR (P76S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3262667	NM_153769.3(CABYR):c.277T>C (p.Ser93Pro)	CABYR (S93P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283536	NM_153769.3(CABYR):c.280A>G (p.Lys94Glu)	CABYR (K76E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3136265	NM_153769.3(CABYR):c.343T>A (p.Tyr115Asn)	CABYR (Y115N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491372	NM_153769.3(CABYR):c.389G>A (p.Gly130Asp)	CABYR (G112D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393488	NM_153769.3(CABYR):c.415G>A (p.Gly139Ser)	CABYR (G41S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262662	NM_153769.3(CABYR):c.444G>C (p.Lys148Asn)	CABYR (K130N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391318	NM_153769.3(CABYR):c.472C>T (p.Pro158Ser)	CABYR (P60S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548845	NM_153769.3(CABYR):c.502G>A (p.Val168Ile)	CABYR (V168I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551975	NM_153769.3(CABYR):c.541+69G>A	CABYR (V186I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383247	NM_153769.3(CABYR):c.541+105G>A	CABYR (E118K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136266	NM_153769.3(CABYR):c.541+127C>T	CABYR (P205L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258127	NM_153769.3(CABYR):c.541+155A>C	CABYR (E134D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136267	NM_153769.3(CABYR):c.541+186G>A	CABYR (V225I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136268	NM_153769.3(CABYR):c.541+199C>T	CABYR (S149F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136269	NM_153769.3(CABYR):c.541+205C>T	CABYR (P151L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371172	NM_153769.3(CABYR):c.541+232C>T	CABYR (T160M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262659	NM_153769.3(CABYR):c.541+255G>A	CABYR (D168N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249432	NM_153769.3(CABYR):c.541+294G>T	CABYR (V261F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252078	NM_153769.3(CABYR):c.541+302G>T	CABYR (L183F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136270	NM_153769.3(CABYR):c.541+306G>C	CABYR (A265P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475375	NM_153769.3(CABYR):c.541+337T>C	CABYR (I195T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262665	NM_153769.3(CABYR):c.541+358T>G	CABYR (V282G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355155	NM_153769.3(CABYR):c.541+424A>G	CABYR (D224G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262661	NM_153769.3(CABYR):c.541+430T>C	CABYR (V324A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485900	NM_153769.3(CABYR):c.541+445A>C	CABYR (E329A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293639	NM_153769.3(CABYR):c.541+445A>G	CABYR (E329G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254494	NM_153769.3(CABYR):c.541+455G>C	CABYR (Q234H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262663	NM_153769.3(CABYR):c.541+478C>T	CABYR (P322L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611409	NM_153769.3(CABYR):c.541+570A>T	CABYR (N273Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360923	NM_153769.3(CABYR):c.541+657G>A	CABYR (A302T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136264	NM_153769.3(CABYR):c.541+787A>G	CABYR (Q345R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262664	NM_153769.3(CABYR):c.541+834G>C	CABYR (V459L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227345	NM_153769.3(CABYR):c.541+844G>C	CABYR (G444A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273181	NM_153769.3(CABYR):c.541+933G>A	CABYR (A492T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 37