C4225357[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2826088	NM_004408.4(DNM1):c.2T>C (p.Met1Thr)	CIZ1, DNM1 (M1T)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1114663	NM_004408.4(DNM1):c.3G>T (p.Met1Ile)	CIZ1, DNM1 (M1I)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 833577	NM_004408.4(DNM1):c.6C>T (p.Gly2=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GBenign
Select item 2915858	NM_004408.4(DNM1):c.11G>A (p.Arg4His)	CIZ1, DNM1 (R4H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1385023	NM_004408.4(DNM1):c.13G>A (p.Gly5Ser)	DNM1, CIZ1 (G5S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2915480	NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)	CIZ1, DNM1 (L12M)	Indel (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1507649	NM_004408.4(DNM1):c.38T>C (p.Val13Ala)	CIZ1, DNM1 (V13A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1444460	NM_004408.4(DNM1):c.43C>G (p.Arg15Gly)	CIZ1, DNM1 (R15G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 476066	NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)	CIZ1, DNM1 (R15Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GConflicting classifications of pathogenicity
Select item 380950	NM_004408.4(DNM1):c.46C>A (p.Leu16Met)	CIZ1, DNM1 (L16M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1127242	NM_004408.4(DNM1):c.54C>T (p.Asp18=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 751209	NM_004408.4(DNM1):c.81G>A (p.Ala27=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1763636	NM_004408.4(DNM1):c.84C>T (p.Asp28=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 1038491	NM_004408.4(DNM1):c.95C>T (p.Pro32Leu)	CIZ1, DNM1 (P32L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 574393	NM_004408.4(DNM1):c.103G>T (p.Ala35Ser)	CIZ1, DNM1 (A35S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1980946	NM_004408.4(DNM1):c.108G>T (p.Val36=)	DNM1, CIZ1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2007740	NM_004408.4(DNM1):c.114C>A (p.Gly38=)	DNM1, CIZ1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1618715	NM_004408.4(DNM1):c.114C>T (p.Gly38=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 391413	NM_004408.4(DNM1):c.117C>T (p.Gly39=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GLikely benign
Select item 968753	NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)	CIZ1, DNM1 (G43D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely pathogenic
Select item 520840	NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)	CIZ1, DNM1 (S45N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic/Likely pathogenic
Select item 1079367	NM_004408.4(DNM1):c.138G>A (p.Ser46=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 224142	NM_004408.4(DNM1):c.139G>A (p.Val47Met)	CIZ1, DNM1 (V47M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +7 more	GPathogenic/Likely pathogenic
Select item 1674345	NM_004408.4(DNM1):c.141G>T (p.Val47=)	DNM1, CIZ1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1131320	NM_004408.4(DNM1):c.150T>C (p.Asn50=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1064170	NM_004408.4(DNM1):c.152T>C (p.Phe51Ser)	CIZ1, DNM1 (F51S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2816526	NM_004408.4(DNM1):c.161+5_161+6delinsTT	CIZ1, DNM1	Indel (intron variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2034285	NM_004408.4(DNM1):c.161+8C>T	CIZ1, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1565866	NM_004408.4(DNM1):c.161+11C>G	CIZ1, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2123441	NM_004408.4(DNM1):c.161+14G>A	CIZ1, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 392023	NM_004408.4(DNM1):c.162-17C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1056324	NM_004408.4(DNM1):c.162-9T>G	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1617900	NM_004408.4(DNM1):c.162-8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2801298	NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)	DNM1, LOC113839516 (R59Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2755885	NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)	DNM1, LOC113839516 (R66P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 429456	NM_004408.4(DNM1):c.199C>T (p.Arg67Cys)	DNM1, LOC113839516 (R67C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GConflicting classifications of pathogenicity
Select item 2713346	NM_004408.4(DNM1):c.208G>A (p.Val70Ile)	DNM1, LOC113839516 (V70I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 797515	NM_004408.4(DNM1):c.216G>A (p.Gln72=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2818003	NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)	DNM1, LOC113839516 (N75I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 588416	NM_004408.4(DNM1):c.224A>G (p.Asn75Ser)	DNM1, LOC113839516 (N75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2201189	NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)	DNM1, LOC113839516 (T78K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 493492	NM_004408.4(DNM1):c.235+8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1095894	NM_004408.4(DNM1):c.235+9C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 681559	NM_004408.4(DNM1):c.235+10C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31 +1 more	GLikely benign
Select item 2913511	NM_004408.4(DNM1):c.235+18C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2135542	NM_004408.4(DNM1):c.236-17G>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2854004	NM_004408.4(DNM1):c.236-2A>C	DNM1, LOC113839516	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 31	GLikely pathogenic
Select item 2869199	NM_004408.4(DNM1):c.243C>A (p.Ala81=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2021851	NM_004408.4(DNM1):c.246G>A (p.Glu82=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 959310	NM_004408.4(DNM1):c.261G>A (p.Lys87=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31 +2 more	GBenign/Likely benign
Select item 1569925	NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala)	DNM1, LOC113839516 (G88A)	Indel (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GConflicting classifications of pathogenicity
Select item 2746451	NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)	DNM1, LOC113839516 (K89E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1412439	NM_004408.4(DNM1):c.267G>T (p.Lys89Asn)	DNM1, LOC113839516 (K89N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2427911	NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)	DNM1, LOC113839516 (E95D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1703398	NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)	DNM1, LOC113839516 (R98C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1046154	NM_004408.4(DNM1):c.292C>G (p.Arg98Gly)	DNM1, LOC113839516 (R98G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1405410	NM_004408.4(DNM1):c.293G>A (p.Arg98His)	DNM1, LOC113839516 (R98H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1577348	NM_004408.4(DNM1):c.304G>A (p.Glu102Lys)	DNM1, LOC113839516 (E102K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 380778	NM_004408.4(DNM1):c.312G>A (p.Glu104=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 2168128	NM_004408.4(DNM1):c.327C>T (p.Thr109=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 383891	NM_004408.4(DNM1):c.332C>G (p.Thr111Ser)	LOC113839516, DNM1 (T111S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1039063	NM_004408.4(DNM1):c.342C>T (p.Gly114=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 944468	NM_004408.4(DNM1):c.350C>T (p.Pro117Leu)	DNM1, LOC113839516 (P117L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1008455	NM_004408.4(DNM1):c.352G>A (p.Val118Met)	DNM1, LOC113839516 (V118M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1631713	NM_004408.4(DNM1):c.354G>A (p.Val118=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 383230	NM_004408.4(DNM1):c.357T>C (p.Pro119=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31 +3 more	GBenign
Select item 377330	NM_004408.4(DNM1):c.358A>G (p.Ile120Val)	DNM1, LOC113839516 (I120V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GUncertain significance
Select item 1568902	NM_004408.4(DNM1):c.375C>T (p.Tyr125=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 570619	NM_004408.4(DNM1):c.383A>G (p.His128Arg)	LOC113839516, DNM1 (H128R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1469912	NM_004408.4(DNM1):c.384C>T (p.His128=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 3011978	NM_004408.4(DNM1):c.385+8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2958432	NM_004408.4(DNM1):c.385+11T>C	LOC113839516, DNM1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2859074	NM_004408.4(DNM1):c.385+18G>C	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1553715	NM_004408.4(DNM1):c.385+18G>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1636747	NM_004408.4(DNM1):c.386-19C>G	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 513454	NM_004408.4(DNM1):c.386-17C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 387856	NM_004408.4(DNM1):c.386-14G>A	DNM1, LOC113839516	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2141096	NM_004408.4(DNM1):c.386-11G>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 754558	NM_004408.4(DNM1):c.386-7T>C	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1966268	NM_004408.4(DNM1):c.386-4C>G	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 766718	NM_004408.4(DNM1):c.387G>A (p.Val129=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 663632	NM_004408.4(DNM1):c.402G>A (p.Leu134=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2760872	NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)	DNM1, LOC113839516 (D136N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2967997	NM_004408.4(DNM1):c.411G>A (p.Leu137=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 761976	NM_004408.4(DNM1):c.411G>T (p.Leu137=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 588754	NM_004408.4(DNM1):c.414C>T (p.Pro138=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2729722	NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)	DNM1, LOC113839516 (G139A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1000777	NM_004408.4(DNM1):c.427G>C (p.Val143Leu)	DNM1, LOC113839516 (V143L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 2807862	NM_004408.4(DNM1):c.435G>T (p.Val145=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 2028907	NM_004408.4(DNM1):c.438G>A (p.Gly146=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 542676	NM_004408.4(DNM1):c.443A>G (p.Gln148Arg)	DNM1, LOC113839516 (Q148R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GLikely pathogenic
Select item 388987	NM_004408.4(DNM1):c.450C>G (p.Pro150=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2152718	NM_004408.4(DNM1):c.468C>T (p.Ile156=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1485322	NM_004408.4(DNM1):c.470G>A (p.Arg157Gln)	DNM1, LOC113839516 (R157Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance
Select item 1557690	NM_004408.4(DNM1):c.471A>G (p.Arg157=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 587898	NM_004408.4(DNM1):c.474C>T (p.Asp158=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2142951	NM_004408.4(DNM1):c.507C>T (p.Cys169=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 1578135	NM_004408.4(DNM1):c.519C>T (p.Ala173=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31	GLikely benign
Select item 511116	NM_004408.4(DNM1):c.528C>T (p.Pro176=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2697104	NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)	DNM1, LOC113839516 (S179T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31	GUncertain significance

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