isodon interrupts - ClinVar - NCBI

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The following term was not found in ClinVar: isodon.
Showing results for Isodon interruptus. Your search for Isodon interruptus retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296273	NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	PEX10 (L272fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +4 more	GPathogenic
Select item 422689	NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)	PLOD1 (M1fs)	Deletion (frameshift variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +3 more	GUncertain significance
Select item 3062163	NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)	COL11A1 (M376* +3 more)	Inversion (nonsense +1 more)	Hearing loss, autosomal dominant 37	GLikely pathogenic
Select item 3233282	NM_015100.4(POGZ):c.2162C>G (p.Ser721Ter)	POGZ (S626* +5 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GPathogenic
Select item 14494	NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	LMNA (R582H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 690279	NM_016343.4(CENPF):c.1195-2A>G	CENPF	Single nucleotide variant (splice acceptor variant)	Stromme syndrome	GLikely pathogenic
Select item 90893	NM_000251.3(MSH2):c.212-2A>G	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 91071	NM_000251.3(MSH2):c.366+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 91075	NM_000251.3(MSH2):c.367-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 91156	NM_000251.3(MSH2):c.645+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 91163	NM_000251.3(MSH2):c.646-3_654del	MSH2	Deletion (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 91161	NM_000251.3(MSH2):c.646-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 91210	NM_000251.3(MSH2):c.793-2A>C	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 91251	NM_000251.3(MSH2):c.942G>A (p.Gln314=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GPathogenic
Select item 91247	NM_000251.3(MSH2):c.942+1G>T	MSH2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 91250	NM_000251.3(MSH2):c.942+2del	MSH2	Deletion (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 91249	NM_000251.3(MSH2):c.942+2T>G	MSH2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 91254	NM_000251.3(MSH2):c.943-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 91253	NM_000251.3(MSH2):c.943-1G>C	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 91252	NM_000251.3(MSH2):c.943-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90520	NM_000251.3(MSH2):c.1076+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90530	NM_000251.3(MSH2):c.1077-2A>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90529	NM_000251.3(MSH2):c.1077-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90525	NM_000251.3(MSH2):c.1077-1G>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90524	NM_000251.3(MSH2):c.1077-1G>C	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90592	NM_000251.3(MSH2):c.1276+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90591	NM_000251.3(MSH2):c.1276+1G>C	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90595	NM_000251.3(MSH2):c.1276+2T>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90604	NM_000251.3(MSH2):c.1277-2A>C	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90602	NM_000251.3(MSH2):c.1277-1G>C	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90601	NM_000251.3(MSH2):c.1277-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90643	NM_000251.3(MSH2):c.1386+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90642	NM_000251.3(MSH2):c.1386+1G>C	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90641	NM_000251.3(MSH2):c.1386+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90645	NM_000251.3(MSH2):c.1387-1G>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90720	NM_000251.3(MSH2):c.1661+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90719	NM_000251.3(MSH2):c.1661+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90728	NM_000251.3(MSH2):c.1662-2A>G	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90766	NM_000251.3(MSH2):c.1759+1G>A	MSH2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90768	NM_000251.3(MSH2):c.1759+2T>C	MSH2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90773	NM_000251.3(MSH2):c.1760-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90840	NM_000251.3(MSH2):c.2005+2_2005+12del	MSH2	Deletion (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90837	NM_000251.3(MSH2):c.2005+1G>T	MSH2 (G669V)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 90836	NM_000251.3(MSH2):c.2005+1G>C	MSH2 (G669A)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 90835	NM_000251.3(MSH2):c.2005+1G>A	MSH2 (G669D)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 90841	NM_000251.3(MSH2):c.2005+2del	MSH2 (K671fs)	Deletion (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 90847	NM_000251.3(MSH2):c.2006-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90845	NM_000251.3(MSH2):c.2006-1G>C	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90922	NM_000251.3(MSH2):c.2210+1G>C	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90921	NM_000251.3(MSH2):c.2210+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90930	NM_000251.3(MSH2):c.2211-2A>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90929	NM_000251.3(MSH2):c.2211-2A>C	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90928	NM_000251.3(MSH2):c.2211-1G>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90976	NM_000251.3(MSH2):c.2458+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 91017	NM_000251.3(MSH2):c.2634+1G>T	MSH2 (V859F)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 91016	NM_000251.3(MSH2):c.2634+1G>A	MSH2 (V859I)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 91023	NM_000251.3(MSH2):c.2635-1G>T	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 89531	NM_000179.3(MSH6):c.458-1G>A	MSH6	Single nucleotide variant (splice acceptor variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 89344	NM_000179.3(MSH6):c.3172+1G>T	MSH6	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 89347	NM_000179.3(MSH6):c.3173-1_3173del	MSH6	Deletion (splice acceptor variant)	Lynch syndrome	GPathogenic
Select item 89377	NM_000179.3(MSH6):c.3379_3438+5del	MSH6	Deletion (splice donor variant)	Lynch syndrome	GPathogenic
Select item 89386	NM_000179.3(MSH6):c.3438+1G>A	MSH6	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 89391	NM_000179.3(MSH6):c.3439-2A>G	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 89390	NM_000179.3(MSH6):c.3439-1G>T	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 89433	NM_000179.3(MSH6):c.3646_3646+3del	MSH6	Deletion (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 89440	NM_000179.3(MSH6):c.3647-6_3647-1del	MSH6	Deletion (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 89462	NM_000179.3(MSH6):c.3798_3801+26del	MSH6	Deletion (splice donor variant)	Lynch syndrome	GPathogenic
Select item 1879067	NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)	LOC126806423, TTN +1 more (Y13659* +5 more)	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 90403	NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)	MLH1 (A29G)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 89656	NM_000249.4(MLH1):c.116+1G>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90022	NM_000249.4(MLH1):c.207+1_207+2del	MLH1	Deletion (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90021	NM_000249.4(MLH1):c.207+1G>T	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90020	NM_000249.4(MLH1):c.207+1G>A	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90023	NM_000249.4(MLH1):c.207+2T>C	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90030	NM_000249.4(MLH1):c.208-1_208del	MLH1	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90157	NM_000249.4(MLH1):c.307-2A>C	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90154	NM_000249.4(MLH1):c.307-1G>C	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90191	NM_000249.4(MLH1):c.380+1G>A	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90193	NM_000249.4(MLH1):c.380+2T>C	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90195	NM_000249.4(MLH1):c.381-2A>G	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90223	NM_000249.4(MLH1):c.453+1G>T	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90232	NM_000249.4(MLH1):c.454-2A>G	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90231	NM_000249.4(MLH1):c.454-1G>T	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90259	NM_000249.4(MLH1):c.545+1G>A	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90265	NM_000249.4(MLH1):c.546-1G>A	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90276	NM_000249.4(MLH1):c.574_588+2del	MLH1	Deletion (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90281	NM_000249.4(MLH1):c.588+1del	MLH1	Deletion (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90282	NM_000249.4(MLH1):c.588+2T>A	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90290	NM_000249.4(MLH1):c.589-1G>T	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 90321	NM_000249.4(MLH1):c.677_677+1insT	MLH1	Insertion (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90320	NM_000249.4(MLH1):c.677_677+1delinsAT	MLH1	Indel (splice donor variant)	Lynch syndrome	GPathogenic
Select item 90311	NM_000249.4(MLH1):c.677+1G>A	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90327	NM_000249.4(MLH1):c.678-9_693del	MLH1	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90324	NM_000249.4(MLH1):c.678-2A>G	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90323	NM_000249.4(MLH1):c.678-1G>T	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90357	NM_000249.4(MLH1):c.790+1G>C	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90359	NM_000249.4(MLH1):c.790+2T>A	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90373	NM_000249.4(MLH1):c.791-4_795del	MLH1	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90372	NM_000249.4(MLH1):c.791-2A>G	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic

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