81788[geneid] - ClinVar

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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	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +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	FCGR3A, LCE3C +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)	CAMK1G, CD34 +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

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Items: 65