NUAK2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 3202682	NM_030952.3(NUAK2):c.1868T>G (p.Val623Gly)	NUAK2 (V623G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301329	NM_030952.3(NUAK2):c.1800G>C (p.Leu600Phe)	NUAK2 (L600F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366225	NM_030952.3(NUAK2):c.1786C>G (p.Arg596Gly)	NUAK2 (R596G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355290	NM_030952.3(NUAK2):c.1733C>T (p.Thr578Met)	NUAK2 (T578M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202681	NM_030952.3(NUAK2):c.1727A>G (p.Asn576Ser)	NUAK2 (N576S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202680	NM_030952.3(NUAK2):c.1673A>T (p.Asp558Val)	NUAK2 (D558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617560	NM_030952.3(NUAK2):c.1613G>A (p.Arg538Gln)	NUAK2 (R538Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202679	NM_030952.3(NUAK2):c.1583C>A (p.Ala528Asp)	NUAK2 (A528D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374409	NM_030952.3(NUAK2):c.1546G>A (p.Ala516Thr)	NUAK2 (A516T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516828	NM_030952.3(NUAK2):c.1535C>T (p.Ala512Val)	NUAK2 (A512V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347956	NM_030952.3(NUAK2):c.1516G>A (p.Gly506Ser)	NUAK2 (G506S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639850	NM_030952.3(NUAK2):c.1425C>T (p.Gly475=)	NUAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3301325	NM_030952.3(NUAK2):c.1415T>C (p.Leu472Ser)	NUAK2 (L472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639851	NM_030952.3(NUAK2):c.1389C>T (p.Pro463=)	NUAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3301331	NM_030952.3(NUAK2):c.1273G>A (p.Asp425Asn)	NUAK2 (D425N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380936	NM_030952.3(NUAK2):c.1192C>G (p.Arg398Gly)	NUAK2 (R398G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301332	NM_030952.3(NUAK2):c.1174G>A (p.Ala392Thr)	NUAK2 (A392T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559692	NM_030952.3(NUAK2):c.1097C>A (p.Pro366His)	NUAK2 (P366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301330	NM_030952.3(NUAK2):c.1085G>C (p.Gly362Ala)	NUAK2 (G362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202676	NM_030952.3(NUAK2):c.1021C>A (p.Arg341Ser)	NUAK2 (R341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302260	NM_030952.3(NUAK2):c.1021C>T (p.Arg341Cys)	NUAK2 (R341C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508203	NM_030952.3(NUAK2):c.1009C>T (p.Arg337Trp)	NUAK2 (R337W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300330	NM_030952.3(NUAK2):c.995T>C (p.Met332Thr)	NUAK2 (M332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482345	NM_030952.3(NUAK2):c.967C>T (p.Pro323Ser)	NUAK2 (P323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477300	NM_030952.3(NUAK2):c.952C>T (p.His318Tyr)	NUAK2 (H318Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458018	NM_030952.3(NUAK2):c.950C>T (p.Pro317Leu)	NUAK2 (P317L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202687	NM_030952.3(NUAK2):c.929G>A (p.Arg310Gln)	NUAK2 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353372	NM_030952.3(NUAK2):c.869G>A (p.Arg290His)	NUAK2 (R290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382854	NM_030952.3(NUAK2):c.868C>T (p.Arg290Cys)	NUAK2 (R290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301328	NM_030952.3(NUAK2):c.805G>C (p.Glu269Gln)	NUAK2 (E269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301327	NM_030952.3(NUAK2):c.754G>T (p.Gly252Trp)	NUAK2 (G252W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611330	NM_030952.3(NUAK2):c.661G>A (p.Val221Ile)	NUAK2 (V221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202686	NM_030952.3(NUAK2):c.583G>A (p.Gly195Ser)	NUAK2 (G195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301326	NM_030952.3(NUAK2):c.449G>A (p.Arg150His)	NUAK2 (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184278	NM_030952.3(NUAK2):c.412_433delinsG (p.Tyr138_Gln145delinsGlu)	NUAK2	Indel (inframe_indel)	Anencephaly 2	GPathogenic
Select item 3202685	NM_030952.3(NUAK2):c.406G>A (p.Asp136Asn)	NUAK2 (D136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202684	NM_030952.3(NUAK2):c.401G>A (p.Arg134Gln)	NUAK2 (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038181	NM_030952.3(NUAK2):c.400C>T (p.Arg134Trp)	NUAK2 (R134W)	Single nucleotide variant (missense variant)	NUAK2-related disorder	GLikely benign
Select item 2459989	NM_030952.3(NUAK2):c.323A>G (p.Asn108Ser)	NUAK2 (N108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664206	NM_030952.3(NUAK2):c.310A>T (p.Met104Leu)	NUAK2 (M104L)	Single nucleotide variant (missense variant)	Anencephaly 2	GUncertain significance
Select item 3202683	NM_030952.3(NUAK2):c.260A>G (p.Lys87Arg)	NUAK2 (K87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318125	NM_030952.3(NUAK2):c.193G>A (p.Gly65Arg)	NUAK2 (G65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512859	NM_030952.3(NUAK2):c.131A>G (p.His44Arg)	NUAK2 (H44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202677	NM_030952.3(NUAK2):c.111G>T (p.Lys37Asn)	NUAK2 (K37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227452	NM_030952.3(NUAK2):c.83T>A (p.Ile28Asn)	NUAK2 (I28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639852	NM_030952.3(NUAK2):c.81G>A (p.Leu27=)	NUAK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404864	NM_030952.3(NUAK2):c.11T>G (p.Leu4Arg)	NUAK2 (L4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	ADIPOR1, ADORA1 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	EIF2D, ELF3 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814156	GRCh37/hg19 1q32.1(chr1:204954317-205346803)x1	KLHDC8A, NUAK2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65