NADK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929093, LOC129929110 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	ACAP3, AGRN +243 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 148829	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	ACAP3, AGRN +238 more	Copy number gain	See cases	GUncertain significance
Select item 148825	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	ACAP3, AGRN +238 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58292	GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	ACAP3, AGRN +205 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	ACAP3, AGRN +234 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	LOC126805582, LOC129388419 +253 more	Copy number loss	See cases	GPathogenic
Select item 58312	GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	ACAP3, AGRN +198 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 152331	GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	LOC129929169, LOC129929170 +231 more	Copy number loss	See cases	GPathogenic
Select item 145604	GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	ACAP3, AGRN +168 more	Copy number gain	See cases	GLikely benign
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 58319	GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	ACTRT2, ATAD3A +125 more	Copy number loss	See cases	GPathogenic
Select item 154682	GRCh38/hg38 1p36.33-36.32(chr1:1515661-2349832)x3	ATAD3A, CALML6 +84 more	Copy number gain	See cases	GUncertain significance
Select item 2672290	NM_023018.5(NADK):c.1310AGG[10] (p.Glu445_Gly446insGlu)	NADK	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 2612496	NM_023018.5(NADK):c.1304A>G (p.His435Arg)	NADK (H580R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521759	NM_023018.5(NADK):c.1285G>A (p.Val429Ile)	NADK (V429I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273100	NM_023018.5(NADK):c.1268A>G (p.Gln423Arg)	NADK (Q336R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173102	NM_023018.5(NADK):c.1231C>T (p.Arg411Trp)	NADK (R324W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546776	NM_023018.5(NADK):c.1220C>T (p.Ser407Phe)	NADK (S552F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762412	NM_023018.5(NADK):c.1017C>T (p.Asn339=)	NADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382937	NM_023018.5(NADK):c.1015A>C (p.Asn339His)	NADK (N307H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377149	NM_023018.5(NADK):c.1003A>G (p.Met335Val)	NADK (M248V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402886	NM_023018.5(NADK):c.880T>C (p.Ser294Pro)	NADK (S262P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173085	NM_023018.5(NADK):c.874C>T (p.Pro292Ser)	NADK (P260S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638060	NM_023018.5(NADK):c.858G>A (p.Val286=)	NADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615196	NM_023018.5(NADK):c.749G>A (p.Gly250Glu)	NADK (G218E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 3173151	NM_023018.5(NADK):c.494G>A (p.Arg165Gln)	NADK (R165Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284660	NM_023018.5(NADK):c.394-12C>T	NADK (L273F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298362	NM_023018.5(NADK):c.394-35C>T	NADK (A265V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173147	NM_023018.5(NADK):c.394-48A>T	NADK (R261W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595213	NM_023018.5(NADK):c.393+61C>T	NADK (H256Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356976	NM_023018.5(NADK):c.393+60C>G	NADK (I255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356514	NM_023018.5(NADK):c.393+47G>A	NADK (G251E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791769	NM_023018.5(NADK):c.393+41G>T	NADK (G249V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2298064	NM_023018.5(NADK):c.393+38A>T	NADK (H248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472525	NM_023018.5(NADK):c.393+7G>A	NADK (G238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638061	NM_023018.5(NADK):c.297G>A (p.Thr99=)	NADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3173143	NM_023018.5(NADK):c.296C>T (p.Thr99Met)	NADK (T12M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607844	NM_023018.5(NADK):c.264-1794C>T	NADK (T191I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345529	NM_023018.5(NADK):c.264-1858G>A	NADK (A170T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173141	NM_023018.5(NADK):c.264-1860C>G	NADK (A169G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173139	NM_023018.5(NADK):c.264-1861G>A	NADK (A169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350314	NM_023018.5(NADK):c.264-1869T>C	NADK (V166A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716793	NM_023018.5(NADK):c.264-1872C>T	NADK (P165L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2595135	NM_023018.5(NADK):c.264-1915G>A	NADK (E151K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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