MKNK1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 3294998	NM_001135553.4(MKNK1):c.1202G>A (p.Gly401Asp)	MKNK1, MKNK1-AS1 (G401D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475762	NM_001135553.4(MKNK1):c.1184G>C (p.Arg395Pro)	MKNK1, MKNK1-AS1 (R395P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215322	NM_001135553.4(MKNK1):c.1169G>A (p.Arg390His)	MKNK1, MKNK1-AS1 (R390H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509648	NM_001135553.4(MKNK1):c.1044C>T (p.Phe348=)	MKNK1, MKNK1-AS1 (R291C +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2475067	NM_001135553.4(MKNK1):c.986G>C (p.Gly329Ala)	MKNK1, MKNK1-AS1 (G329A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360444	NM_001135553.4(MKNK1):c.980A>C (p.Glu327Ala)	MKNK1, MKNK1-AS1 (E327A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295899	NM_001135553.4(MKNK1):c.962T>C (p.Val321Ala)	MKNK1, MKNK1-AS1 (V278A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481789	NM_001135553.4(MKNK1):c.917C>G (p.Ala306Gly)	MKNK1, MKNK1-AS1 (A263G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212098	NM_001135553.4(MKNK1):c.784G>A (p.Glu262Lys)	MKNK1, MKNK1-AS1 (E262K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474633	NM_001135553.4(MKNK1):c.778C>T (p.Arg260Trp)	MKNK1, MKNK1-AS1 (R217W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286233	NM_001135553.4(MKNK1):c.757G>A (p.Gly253Arg)	MKNK1, MKNK1-AS1 (G294R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542877	NM_001135553.4(MKNK1):c.749G>T (p.Gly250Val)	MKNK1, MKNK1-AS1 (G207V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210973	NM_001135553.4(MKNK1):c.734A>G (p.Tyr245Cys)	MKNK1, MKNK1-AS1 (Y202C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210706	NM_001135553.4(MKNK1):c.722T>C (p.Met241Thr)	MKNK1, MKNK1-AS1 (M198T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623608	NM_001135553.4(MKNK1):c.706G>A (p.Val236Met)	MKNK1, MKNK1-AS1 (V236M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638801	NM_001135553.4(MKNK1):c.705C>T (p.Gly235=)	MKNK1, MKNK1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210193	NM_001135553.4(MKNK1):c.578C>T (p.Thr193Ile)	MKNK1, MKNK1-AS1 (T193I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295000	NM_001135553.4(MKNK1):c.493T>G (p.Leu165Val)	MKNK1, MKNK1-AS1 (L122V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638802	NM_001135553.4(MKNK1):c.199-7C>T	MKNK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2285321	NM_001135553.4(MKNK1):c.163G>A (p.Val55Met)	MKNK1 (V61M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209030	NM_001135553.4(MKNK1):c.143A>G (p.Tyr48Cys)	MKNK1 (Y54C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208742	NM_001135553.4(MKNK1):c.134A>C (p.Glu45Ala)	MKNK1 (E45A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384102	NM_001135553.4(MKNK1):c.68G>A (p.Arg23Gln)	MKNK1 (G13R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209900	NM_001135553.4(MKNK1):c.13G>A (p.Glu5Lys)	MKNK1 (E5K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517939	NM_001135553.4(MKNK1):c.-9C>A	MKNK1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1526971	GRCh37/hg19 1p33(chr1:47002212-47068904)	KNCN, MKNK1	Copy number gain	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 816515	GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3	UQCRH, DMBX1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565089	GRCh37/hg19 1p33(chr1:47010907-47068904)x1	MKNK1, KNCN	Copy number loss	not provided	GUncertain significance
Select item 443026	GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3	DMBX1, FAAH +11 more	Copy number gain	See cases	GUncertain significance
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 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 36