C1857252[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1523201	NM_001085411.3(NADK2):c.1310C>T (p.Thr437Ile)	NADK2 (T274I +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1427734	NM_001085411.3(NADK2):c.1277C>T (p.Ser426Leu)	NADK2 (S263L +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 959061	NM_001085411.3(NADK2):c.1270A>G (p.Ile424Val)	NADK2 (I261V +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2738933	NM_001085411.3(NADK2):c.1248T>G (p.Ser416=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2875080	NM_001085411.3(NADK2):c.1236T>C (p.Asp412=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2832870	NM_001085411.3(NADK2):c.1235A>G (p.Asp412Gly)	NADK2 (D412G +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2912678	NM_001085411.3(NADK2):c.1229T>C (p.Val410Ala)	NADK2 (V410A +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 798229	NM_001085411.3(NADK2):c.1225A>G (p.Met409Val)	NADK2 (M409V +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GLikely benign
Select item 1634430	NM_001085411.3(NADK2):c.1221C>G (p.Ala407=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 3013040	NM_001085411.3(NADK2):c.1210T>G (p.Cys404Gly)	NADK2 (C241G +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1990508	NM_001085411.3(NADK2):c.1202G>A (p.Arg401His)	NADK2 (R238H +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2740993	NM_001085411.3(NADK2):c.1190+12C>G	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1036792	NM_001085411.3(NADK2):c.1190+6C>T	NADK2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1639639	NM_001085411.3(NADK2):c.1176T>C (p.Arg392=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2722590	NM_001085411.3(NADK2):c.1175G>A (p.Arg392His)	NADK2 (R251H +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2187785	NM_001085411.3(NADK2):c.1168C>T (p.Arg390Cys)	NADK2 (R390C +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1503907	NM_001085411.3(NADK2):c.1133G>A (p.Arg378Gln)	NADK2 (R215Q +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 380573	NM_001085411.3(NADK2):c.1104G>A (p.Pro368=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +3 more	GBenign
Select item 1375190	NM_001085411.3(NADK2):c.1103C>T (p.Pro368Leu)	NADK2 (P227L +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GUncertain significance
Select item 2177148	NM_001085411.3(NADK2):c.1090C>T (p.Leu364=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1931694	NM_001085411.3(NADK2):c.1073A>G (p.Asn358Ser)	NADK2 (N358S +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2018767	NM_001085411.3(NADK2):c.1067-4G>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2057513	NM_001085411.3(NADK2):c.1067-11_1067-9del	NADK2	Deletion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1536793	NM_001085411.3(NADK2):c.1067-20_1067-19insTA	NADK2	Insertion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2888157	NM_001085411.3(NADK2):c.1066+12A>G	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2068614	NM_001085411.3(NADK2):c.1056G>A (p.Leu352=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1525586	NM_001085411.3(NADK2):c.1047C>G (p.Asn349Lys)	NADK2 (N208K +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2173730	NM_001085411.3(NADK2):c.1019G>A (p.Arg340Gln)	NADK2 (R340Q +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2740906	NM_001085411.3(NADK2):c.1014A>G (p.Ala338=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2158097	NM_001085411.3(NADK2):c.1013-7T>A	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2727557	NM_001085411.3(NADK2):c.1013-13_1013-9del	NADK2	Microsatellite (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 383909	NM_001085411.3(NADK2):c.1013-17C>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GBenign/Likely benign
Select item 1542579	NM_001085411.3(NADK2):c.1012+19A>G	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 3002508	NM_001085411.3(NADK2):c.1012+3G>A	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1440652	NM_001085411.3(NADK2):c.1006A>G (p.Asn336Asp)	NADK2 (N336D +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1986815	NM_001085411.3(NADK2):c.972C>T (p.Asn324=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2022816	NM_001085411.3(NADK2):c.966T>C (p.Asn322=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2904468	NM_001085411.3(NADK2):c.965A>G (p.Asn322Ser)	NADK2 (N159S +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1556663	NM_001085411.3(NADK2):c.957-9del	NADK2	Deletion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GBenign
Select item 1553147	NM_001085411.3(NADK2):c.957-19A>C	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1944725	NM_001085411.3(NADK2):c.956+20G>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 534665	NM_001085411.3(NADK2):c.864T>C (p.Ala288=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1350335	NM_001085411.3(NADK2):c.861-19T>C	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1599017	NM_001085411.3(NADK2):c.860+8del	NADK2	Deletion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GBenign
Select item 1516023	NM_001085411.3(NADK2):c.839T>C (p.Ile280Thr)	NADK2 (I117T +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 391088	NM_001085411.3(NADK2):c.822A>T (p.Ala274=)	NADK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1439436	NM_001085411.3(NADK2):c.803A>G (p.Gln268Arg)	NADK2 (Q105R +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1447093	NM_001085411.3(NADK2):c.784del (p.Ser262fs)	NADK2 (S262fs +1 more)	Deletion (frameshift variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1418331	NM_001085411.3(NADK2):c.783G>T (p.Arg261Ser)	NADK2 (R261S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2898675	NM_001085411.3(NADK2):c.781+16A>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1609683	NM_001085411.3(NADK2):c.781+13_781+14dup	NADK2	Duplication (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 945558	NM_001085411.3(NADK2):c.777T>A (p.Asp259Glu)	NADK2 (D259E +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1354273	NM_001085411.3(NADK2):c.749G>C (p.Arg250Thr)	NADK2 (R87T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2741858	NM_001085411.3(NADK2):c.746A>G (p.Asn249Ser)	NADK2 (N249S +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2030123	NM_001085411.3(NADK2):c.739C>T (p.Gln247Ter)	NADK2 (Q84* +1 more)	Single nucleotide variant (nonsense)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2059114	NM_001085411.3(NADK2):c.722A>G (p.Gln241Arg)	NADK2 (Q78R +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 794855	NM_001085411.3(NADK2):c.717C>T (p.His239=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GLikely benign
Select item 1463792	NM_001085411.3(NADK2):c.703C>T (p.Pro235Ser)	NADK2 (P72S +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1387897	NM_001085411.3(NADK2):c.692T>C (p.Ile231Thr)	NADK2 (I231T +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1436228	NM_001085411.3(NADK2):c.672A>T (p.Leu224Phe)	NADK2 (L224F +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GUncertain significance
Select item 1529250	NM_001085411.3(NADK2):c.645-12_645-11delinsGT	NADK2	Indel (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 379998	NM_001085411.3(NADK2):c.645-11A>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GBenign
Select item 506830	NM_001085411.3(NADK2):c.644+16G>A	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GLikely benign
Select item 2139958	NM_001085411.3(NADK2):c.644+14dup	NADK2	Duplication (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 512928	NM_001085411.3(NADK2):c.644+15C>T	NADK2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 380571	NM_001085411.3(NADK2):c.632G>A (p.Arg211His)	NADK2 (R211H +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +2 more	GBenign
Select item 1433222	NM_001085411.3(NADK2):c.620A>G (p.Gln207Arg)	NADK2 (Q207R +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 972007	NM_001085411.3(NADK2):c.619C>A (p.Gln207Lys)	NADK2 (Q44K +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 736942	NM_001085411.3(NADK2):c.615C>A (p.Ala205=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1389274	NM_001085411.3(NADK2):c.613G>A (p.Ala205Thr)	NADK2 (A205T +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2067087	NM_001085411.3(NADK2):c.611A>G (p.Glu204Gly)	NADK2 (E204G +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 3013807	NM_001085411.3(NADK2):c.600_601dup (p.Ser201fs)	NADK2 (S201fs +1 more)	Duplication (frameshift variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 939499	NM_001085411.3(NADK2):c.590G>A (p.Arg197Gln)	NADK2 (R197Q +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2178833	NM_001085411.3(NADK2):c.585C>G (p.Pro195=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2102860	NM_001085411.3(NADK2):c.582G>A (p.Leu194=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2890982	NM_001085411.3(NADK2):c.569G>T (p.Gly190Val)	NADK2 (G190V +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 640415	NM_001085411.3(NADK2):c.561G>A (p.Arg187=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1897806	NM_001085411.3(NADK2):c.561-3T>C	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1961040	NM_001085411.3(NADK2):c.561-15C>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2799617	NM_001085411.3(NADK2):c.561-18dup	NADK2	Duplication (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GBenign
Select item 1591843	NM_001085411.3(NADK2):c.560+13G>A	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 516561	NM_001085411.3(NADK2):c.560+9G>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GLikely benign
Select item 3019640	NM_001085411.3(NADK2):c.559C>T (p.Arg187Trp)	NADK2 (R187W +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 513485	NM_001085411.3(NADK2):c.531A>G (p.Pro177=)	NADK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 743492	NM_001085411.3(NADK2):c.510A>G (p.Lys170=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2068615	NM_001085411.3(NADK2):c.492G>T (p.Met164Ile)	NADK2 (M164I +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1385824	NM_001085411.3(NADK2):c.491T>C (p.Met164Thr)	NADK2 (M164T +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2009547	NM_001085411.3(NADK2):c.489A>G (p.Thr163=)	NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1612206	NM_001085411.3(NADK2):c.479-11A>G	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1630453	NM_001085411.3(NADK2):c.479-16G>A	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2030260	NM_001085411.3(NADK2):c.478+18G>C	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1717524	NM_001085411.3(NADK2):c.458A>T (p.Asp153Val)	NADK2 (D153V)	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 844396	NM_001085411.3(NADK2):c.450A>G (p.Arg150=)	NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 444651	NM_001085411.3(NADK2):c.449G>A (p.Arg150Gln)	NADK2 (R150Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1959452	NM_001085411.3(NADK2):c.448C>T (p.Arg150Ter)	NADK2 (R150*)	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 791998	NM_001085411.3(NADK2):c.438A>C (p.Glu146Asp)	NADK2 (E146D)	Single nucleotide variant (missense variant +1 more)	NADK2-related condition +1 more	GBenign
Select item 741953	NM_001085411.3(NADK2):c.420G>A (p.Lys140=)	NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2148516	NM_001085411.3(NADK2):c.410G>A (p.Arg137His)	NADK2 (R137H)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1986814	NM_001085411.3(NADK2):c.409C>T (p.Arg137Cys)	NADK2 (R137C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2091367	NM_001085411.3(NADK2):c.394G>A (p.Glu132Lys)	NADK2 (E132K)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance

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