"Ambry Genetics"[submitter] AND "MOK"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2517051	NM_014226.3(MOK):c.1250G>A (p.Gly417Asp)	MOK (G183D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195563	NM_014226.3(MOK):c.1249G>A (p.Gly417Ser)	MOK (G235S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195537	NM_014226.3(MOK):c.1244G>A (p.Arg415Gln)	MOK (R309Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383331	NM_014226.3(MOK):c.1238T>C (p.Ile413Thr)	MOK (I231T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231904	NM_014226.3(MOK):c.1237A>G (p.Ile413Val)	MOK (I413V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195411	NM_014226.3(MOK):c.1217A>G (p.Gln406Arg)	MOK (Q300R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195376	NM_014226.3(MOK):c.1205A>G (p.Lys402Arg)	MOK (K338R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265871	NM_014226.3(MOK):c.1154C>A (p.Pro385His)	MOK (P203H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614070	NM_014226.3(MOK):c.1117G>A (p.Gly373Arg)	MOK (G139R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195254	NM_014226.3(MOK):c.1085C>T (p.Ser362Phe)	MOK (S128F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195226	NM_014226.3(MOK):c.1073T>G (p.Val358Gly)	MOK (V176G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295539	NM_014226.3(MOK):c.1067G>C (p.Gly356Ala)	MOK (G122A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195207	NM_014226.3(MOK):c.1064C>T (p.Ser355Leu)	MOK (S250L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322753	NM_014226.3(MOK):c.1055T>C (p.Leu352Pro)	MOK (L246P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195144	NM_014226.3(MOK):c.1051A>C (p.Lys351Gln)	MOK (K246Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534130	NM_014226.3(MOK):c.1009C>G (p.Arg337Gly)	MOK (R155G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233413	NM_014226.3(MOK):c.934G>A (p.Glu312Lys)	MOK (E207K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196213	NM_014226.3(MOK):c.932C>T (p.Pro311Leu)	MOK (P205L +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295537	NM_014226.3(MOK):c.931C>T (p.Pro311Ser)	MOK (P129S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540374	NM_014226.3(MOK):c.900A>T (p.Arg300Ser)	MOK (R195S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213550	NM_014226.3(MOK):c.857A>G (p.Gln286Arg)	MOK (Q256R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205225	NM_014226.3(MOK):c.842A>G (p.Gln281Arg)	MOK (Q175R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476794	NM_014226.3(MOK):c.823G>A (p.Ala275Thr)	MOK (A169T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196065	NM_014226.3(MOK):c.779C>T (p.Ser260Phe)	MOK (S154F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393949	NM_014226.3(MOK):c.766C>A (p.Pro256Thr)	MOK (P151T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354510	NM_014226.3(MOK):c.722T>G (p.Phe241Cys)	MOK (F135C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219823	NM_014226.3(MOK):c.680C>G (p.Thr227Ser)	MOK (T122S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195974	NM_014226.3(MOK):c.664G>A (p.Ala222Thr)	MOK (A192T +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376241	NM_014226.3(MOK):c.617A>G (p.Asn206Ser)	MOK (N101S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195932	NM_014226.3(MOK):c.598C>T (p.Pro200Ser)	MOK (P169S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195902	NM_014226.3(MOK):c.586G>T (p.Ala196Ser)	MOK (A132S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516166	NM_014226.3(MOK):c.449G>A (p.Arg150Gln)	MOK (R119Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220348	NM_014226.3(MOK):c.437T>C (p.Phe146Ser)	MOK (F145S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472391	NM_014226.3(MOK):c.433G>A (p.Asp145Asn)	MOK (D115N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607935	NM_014226.3(MOK):c.400A>G (p.Ile134Val)	MOK (I134V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285883	NM_014226.3(MOK):c.326T>C (p.Met109Thr)	MOK (M109T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277964	NM_014226.3(MOK):c.325A>C (p.Met109Leu)	MOK (M109L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489015	NM_014226.3(MOK):c.314T>G (p.Ile105Ser)	MOK (I105S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548194	NM_014226.3(MOK):c.202G>A (p.Glu68Lys)	MOK (E4K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283493	NM_014226.3(MOK):c.184A>G (p.Asn62Asp)	MOK (N62D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3295536	NM_014226.3(MOK):c.178C>T (p.His60Tyr)	MOK (H60Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195445	NM_014226.3(MOK):c.121A>G (p.Ser41Gly)	MOK (S41G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195306	NM_014226.3(MOK):c.113G>C (p.Arg38Pro)	MOK (R38P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511765	NM_014226.3(MOK):c.41C>T (p.Thr14Met)	MOK (T14M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 44