Related gene-specific medical variations for Gene (Select 133686) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054105	NM_001085411.3(NADK2):c.60G>C (p.Ala20=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	NADK2-related disorder	GLikely benign
Select item 2999115	NM_001085411.3(NADK2):c.40C>T (p.Arg14Cys)	LOC129993801, NADK2 (R14C)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2962683	NM_001085411.3(NADK2):c.168G>T (p.Ala56=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2915781	NM_001085411.3(NADK2):c.62C>T (p.Ala21Val)	LOC129993801, NADK2 (A21V)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2887127	NM_001085411.3(NADK2):c.180C>T (p.Ser60=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2843973	NM_001085411.3(NADK2):c.71G>A (p.Arg24Gln)	LOC129993801, NADK2 (R24Q)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2762031	NM_001085411.3(NADK2):c.107G>A (p.Arg36Gln)	LOC129993801, NADK2 (R36Q)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2721521	NM_001085411.3(NADK2):c.300+3G>A	LOC129993801, NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2720305	NM_001085411.3(NADK2):c.65C>A (p.Ala22Glu)	LOC129993801, NADK2 (A22E)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2618569	NM_001085411.3(NADK2):c.232A>T (p.Thr78Ser)	LOC129993801, NADK2 (T78S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540315	NM_001085411.3(NADK2):c.11A>G (p.Tyr4Cys)	LOC129993801, NADK2 (Y4C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477697	NM_001085411.3(NADK2):c.35G>A (p.Cys12Tyr)	LOC129993801, NADK2 (C12Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434021	NM_001085411.3(NADK2):c.760A>G (p.Ile254Val)	NADK2 (I254V +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2434020	NM_001085411.3(NADK2):c.686C>G (p.Thr229Ser)	NADK2 (T229S +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2233083	NM_001085411.3(NADK2):c.113G>T (p.Gly38Val)	LOC129993801, NADK2 (G38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2174739	NM_001085411.3(NADK2):c.99G>C (p.Ala33=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2173764	NM_001085411.3(NADK2):c.150G>T (p.Gly50=)	LOC129993801, NADK2	Single nucleotide variant (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2155772	NM_001085411.3(NADK2):c.159C>T (p.Arg53=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2140971	NM_001085411.3(NADK2):c.77C>G (p.Pro26Arg)	LOC129993801, NADK2 (P26R)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2125722	NM_001085411.3(NADK2):c.261C>T (p.Tyr87=)	LOC129993801, NADK2	Single nucleotide variant (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2120517	NM_001085411.3(NADK2):c.136C>T (p.His46Tyr)	LOC129993801, NADK2 (H46Y)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2084959	NM_001085411.3(NADK2):c.239A>G (p.Tyr80Cys)	LOC129993801, NADK2 (Y80C)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2078715	NM_001085411.3(NADK2):c.166G>A (p.Ala56Thr)	LOC129993801, NADK2 (A56T)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2076296	NM_001085411.3(NADK2):c.100C>T (p.Arg34Trp)	LOC129993801, NADK2 (R34W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054036	NM_001085411.3(NADK2):c.212TGG[3] (p.Val74del)	LOC129993801, NADK2 (V74del)	Microsatellite (inframe_deletion +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1983016	NM_001085411.3(NADK2):c.158G>A (p.Arg53His)	LOC129993801, NADK2 (R53H)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1976806	NM_001085411.3(NADK2):c.103C>T (p.Pro35Ser)	LOC129993801, NADK2 (P35S)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1951837	NM_001085411.3(NADK2):c.184G>C (p.Ala62Pro)	LOC129993801, NADK2 (A62P)	Single nucleotide variant (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1942579	NM_001085411.3(NADK2):c.210G>A (p.Arg70=)	LOC129993801, NADK2	Single nucleotide variant (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1878982	NM_001085411.3(NADK2):c.161_186dup (p.Asp63fs)	LOC129993801, NADK2 (D63fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1669195	NM_001085411.3(NADK2):c.66G>A (p.Ala22=)	LOC129993801, NADK2	Single nucleotide variant (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1611633	NM_001085411.3(NADK2):c.300+18C>T	LOC129993801, NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1603472	NM_001085411.3(NADK2):c.120C>T (p.Asp40=)	LOC129993801, NADK2	Single nucleotide variant (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1498255	NM_001085411.3(NADK2):c.264T>G (p.Arg88=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1488425	NM_001085411.3(NADK2):c.285G>A (p.Glu95=)	NADK2, LOC129993801	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1481741	NM_001085411.3(NADK2):c.77C>T (p.Pro26Leu)	LOC129993801, NADK2 (P26L)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1437781	NM_001085411.3(NADK2):c.185C>G (p.Ala62Gly)	LOC129993801, NADK2 (A62G)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1425486	NM_001085411.3(NADK2):c.13C>G (p.Arg5Gly)	LOC129993801, NADK2 (R5G)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1419239	NM_001085411.3(NADK2):c.95_107del (p.Ala32fs)	LOC129993801, NADK2 (A32fs)	Deletion (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1395871	NM_001085411.3(NADK2):c.130_136dup (p.His46fs)	LOC129993801, NADK2 (H46fs)	Duplication (frameshift variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1352672	NM_001085411.3(NADK2):c.169G>C (p.Gly57Arg)	LOC129993801, NADK2 (G57R)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1326564	NM_001085411.3(NADK2):c.-81C>G	LOC129993801, NADK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1249875	NM_153013.5(NADK2):c.-346T>C	NADK2, LOC129993802	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1242424	NM_001085411.3(NADK2):c.-88C>G	LOC129993801, NADK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1241584	NM_001085411.3(NADK2):c.-55A>G	LOC129993801, NADK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1155782	NM_001085411.3(NADK2):c.72G>A (p.Arg24=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1149600	NM_001085411.3(NADK2):c.300+8C>T	LOC129993801, NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1149161	NM_001085411.3(NADK2):c.21C>T (p.Phe7=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1124362	NM_001085411.3(NADK2):c.102G>T (p.Arg34=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1053414	NM_001085411.3(NADK2):c.5C>T (p.Thr2Ile)	LOC129993801, NADK2 (T2I)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1039801	NM_001085411.3(NADK2):c.181C>G (p.Arg61Gly)	NADK2, LOC129993801 (R61G)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1037774	NM_001085411.3(NADK2):c.182G>A (p.Arg61His)	LOC129993801, NADK2 (R61H)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1011392	NM_001085411.3(NADK2):c.283G>T (p.Glu95Ter)	LOC129993801, NADK2 (E95*)	Single nucleotide variant (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1004885	NM_001085411.3(NADK2):c.110T>C (p.Leu37Pro)	LOC129993801, NADK2 (L37P)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 859478	NM_001085411.3(NADK2):c.52G>A (p.Gly18Ser)	LOC129993801, NADK2 (G18S)	Single nucleotide variant (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 793701	NM_001085411.3(NADK2):c.18C>T (p.Gly6=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 676272	NM_001085411.3(NADK2):c.-107C>T	LOC129993801, NADK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 664623	NM_001085411.3(NADK2):c.48G>A (p.Ala16=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 658874	NM_001085411.3(NADK2):c.99_100delinsAT (p.Arg34Trp)	LOC129993801, NADK2 (R34W)	Indel (missense variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 514803	NM_001085411.3(NADK2):c.213G>A (p.Val71=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 513595	NM_001085411.3(NADK2):c.99G>A (p.Ala33=)	LOC129993801, NADK2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 453290	NM_001085411.3(NADK2):c.1A>G (p.Met1Val)	LOC129993801, NADK2 (M1V)	Single nucleotide variant (missense variant +2 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 385032	NM_001085411.3(NADK2):c.-48T>C	LOC129993801, NADK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 385019	NM_001085411.3(NADK2):c.-8G>A	LOC129993801, NADK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 380097	NM_001085411.3(NADK2):c.258G>A (p.Arg86=)	LOC129993801, NADK2	Single nucleotide variant (intron variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GBenign
Select item 380096	NM_001085411.3(NADK2):c.210G>T (p.Arg70=)	LOC129993801, NADK2	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign
Select item 379997	NM_001085411.3(NADK2):c.-22C>T	LOC129993801, NADK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign

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Items: 67