"Ambry Genetics"[submitter] AND "MKNK1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2286233	NM_001135553.4(MKNK1):c.757G>A (p.Gly253Arg)	MKNK1-AS1, MKNK1 (G294R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2285321	NM_001135553.4(MKNK1):c.163G>A (p.Val55Met)	MKNK1 (V61M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2517939	NM_001135553.4(MKNK1):c.-9C>A	MKNK1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance