NUAK1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 59439	GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1	ALDH1L2, APPL2 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	ABTB3, ACACB +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 2495856	NM_014840.3(NUAK1):c.1921A>G (p.Thr641Ala)	NUAK1 (T641A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594988	NM_014840.3(NUAK1):c.1892G>A (p.Arg631Gln)	NUAK1 (R631Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353504	NM_014840.3(NUAK1):c.1885C>T (p.Arg629Trp)	NUAK1 (R629W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395620	NM_014840.3(NUAK1):c.1796G>A (p.Arg599His)	NUAK1 (R599H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035600	NM_014840.3(NUAK1):c.1784G>T (p.Arg595Leu)	NUAK1 (R595L)	Single nucleotide variant (missense variant)	NUAK1-related condition	GLikely benign
Select item 2282860	NM_014840.3(NUAK1):c.1781C>A (p.Ala594Asp)	NUAK1 (A594D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525818	NM_014840.3(NUAK1):c.1774C>T (p.Arg592Cys)	NUAK1 (R592C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038224	NM_014840.3(NUAK1):c.1752C>G (p.Asp584Glu)	NUAK1 (D584E)	Single nucleotide variant (missense variant)	NUAK1-related condition	GUncertain significance
Select item 2622416	NM_014840.3(NUAK1):c.1607T>C (p.Met536Thr)	NUAK1 (M536T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2218565	NM_014840.3(NUAK1):c.1603A>G (p.Thr535Ala)	NUAK1 (T535A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2245920	NM_014840.3(NUAK1):c.1572C>G (p.Ile524Met)	NUAK1 (I524M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227640	NM_014840.3(NUAK1):c.1534G>T (p.Val512Leu)	NUAK1 (V512L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597504	NM_014840.3(NUAK1):c.1497C>A (p.Ser499Arg)	NUAK1 (S499R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401318	NM_014840.3(NUAK1):c.1493G>A (p.Gly498Asp)	NUAK1 (G498D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388922	NM_014840.3(NUAK1):c.1489A>T (p.Met497Leu)	NUAK1 (M497L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 783670	NM_014840.3(NUAK1):c.1451G>A (p.Arg484His)	NUAK1 (R484H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2371624	NM_014840.3(NUAK1):c.1381A>T (p.Thr461Ser)	NUAK1 (T461S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779952	NM_014840.3(NUAK1):c.1353G>A (p.Pro451=)	NUAK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2304222	NM_014840.3(NUAK1):c.1352C>A (p.Pro451Gln)	NUAK1 (P451Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234424	NM_014840.3(NUAK1):c.1349T>A (p.Val450Glu)	NUAK1 (V450E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622882	NM_014840.3(NUAK1):c.1321C>T (p.Leu441Phe)	NUAK1 (L441F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210041	NM_014840.3(NUAK1):c.1249A>C (p.Ile417Leu)	NUAK1 (I417L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249793	NM_014840.3(NUAK1):c.1237A>C (p.Ser413Arg)	NUAK1 (S413R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246868	NM_014840.3(NUAK1):c.1219A>T (p.Ser407Cys)	NUAK1 (S407C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344779	NM_014840.3(NUAK1):c.1100C>T (p.Ser367Leu)	NUAK1 (S367L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531219	NM_014840.3(NUAK1):c.940G>A (p.Val314Met)	NUAK1 (V314M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541591	NM_014840.3(NUAK1):c.894G>C (p.Glu298Asp)	NUAK1 (E298D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214734	NM_014840.3(NUAK1):c.824A>C (p.Gln275Pro)	NUAK1 (Q275P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350958	NM_014840.3(NUAK1):c.772C>A (p.His258Asn)	NUAK1 (H258N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791364	NM_014840.3(NUAK1):c.768C>T (p.Phe256=)	NUAK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2404351	NM_014840.3(NUAK1):c.456G>C (p.Glu152Asp)	NUAK1 (E152D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784473	NM_014840.3(NUAK1):c.241-5T>C	NUAK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2264627	NM_014840.3(NUAK1):c.182T>A (p.Leu61Gln)	NUAK1 (L61Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514666	NM_014840.3(NUAK1):c.62G>A (p.Gly21Asp)	NUAK1 (G21D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559691	NM_014840.3(NUAK1):c.59C>T (p.Pro20Leu)	NUAK1 (P20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578697	GRCh37/hg19 12q23.3(chr12:106460580-107090224)x1	CKAP4, NUAK1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815552	GRCh37/hg19 12q23.3(chr12:106510497-107070575)x3	RFX4, POLR3B +3 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 48