ClinVar for MedGen (Select 368373) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376474	NM_000431.4(MVK):c.788C>G (p.Pro263Arg)	MVK (P211R +3 more)	Single nucleotide variant (missense variant +1 more)	Mevalonic aciduria	GUncertain significance
Select item 3244321	NC_000012.11:g.(?_110028556)_(110029182_?)del	MVK	Deletion	Mevalonic aciduria +2 more	GPathogenic
Select item 2954557	NM_000431.4(MVK):c.227-15T>C	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2954526	NM_000431.4(MVK):c.1072C>T (p.Gln358Ter)	MVK (Q383* +3 more)	Single nucleotide variant (nonsense +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2954511	NM_000431.4(MVK):c.1167C>T (p.Val389=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2954503	NM_000431.4(MVK):c.1122C>T (p.Ala374=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2954426	NM_000431.4(MVK):c.477T>A (p.Thr159=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2954359	NM_000431.4(MVK):c.96C>T (p.Ser32=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2954297	NM_000431.4(MVK):c.886-22_886-20del	MVK	Deletion (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2954120	NM_000431.4(MVK):c.15C>T (p.Val5=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2953988	NM_000431.4(MVK):c.659A>C (p.Lys220Thr)	MVK (K220T +2 more)	Single nucleotide variant (missense variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2953696	NM_000431.4(MVK):c.1062G>A (p.Glu354=)	MVK (R306K +1 more)	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2953508	NM_000431.4(MVK):c.1063del (p.Ala355fs)	MVK (A380fs +5 more)	Deletion (frameshift variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2953492	NM_000431.4(MVK):c.1039+8G>A	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2953001	NM_000431.4(MVK):c.386_422del (p.Leu129fs)	MVK (L129fs)	Deletion (frameshift variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2952941	NM_000431.4(MVK):c.631+16G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2952893	NM_000431.4(MVK):c.1149C>T (p.Thr383=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2952625	NM_000431.4(MVK):c.78+20T>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2952524	NM_000431.4(MVK):c.677+9G>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2952122	NM_000431.4(MVK):c.629G>A (p.Trp210Ter)	MVK (W16* +2 more)	Single nucleotide variant (nonsense +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2952055	NM_000431.4(MVK):c.24G>A (p.Val8=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2951915	NM_000431.4(MVK):c.372-16C>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2951429	NM_000431.4(MVK):c.372-16C>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2951211	NM_000431.4(MVK):c.951G>A (p.Gln317=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2951048	NM_000431.4(MVK):c.1027C>T (p.Leu343Phe)	MVK (L343F +3 more)	Single nucleotide variant (missense variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2950906	NM_000431.4(MVK):c.1124C>T (p.Pro375Leu)	MVK (P181L +3 more)	Single nucleotide variant (missense variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2950883	NM_000431.4(MVK):c.632-18A>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2950746	NM_000431.4(MVK):c.1176C>A (p.Ala392=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2950610	NM_000431.4(MVK):c.179G>A (p.Arg60Gln)	MVK (R60Q)	Single nucleotide variant (missense variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2950257	NM_000431.4(MVK):c.330G>A (p.Leu110=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2950236	NM_000431.4(MVK):c.486G>A (p.Glu162=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2950176	NM_000431.4(MVK):c.705C>T (p.Thr235=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2949745	NM_000431.4(MVK):c.153C>T (p.Leu51=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2949233	NM_000431.4(MVK):c.712A>T (p.Lys238Ter)	MVK (K44* +3 more)	Single nucleotide variant (nonsense +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2949184	NM_000431.4(MVK):c.783G>A (p.Val261=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2948954	NM_000431.4(MVK):c.125A>C (p.Gln42Pro)	MVK (Q42P)	Single nucleotide variant (missense variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2948848	NM_000431.4(MVK):c.768+18C>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2948754	NM_000431.4(MVK):c.677+8G>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2948422	NM_000431.4(MVK):c.664del (p.Ser222fs)	MVK (S222fs +2 more)	Deletion (frameshift variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2947965	NM_000431.4(MVK):c.1078C>T (p.Leu360=)	MVK	Single nucleotide variant (non-coding transcript variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2947497	NM_000431.4(MVK):c.976G>T (p.Gly326Ter)	MVK (G132* +3 more)	Single nucleotide variant (nonsense +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2947367	NM_000431.4(MVK):c.459G>A (p.Leu153=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2946946	NM_000431.4(MVK):c.264G>C (p.Val88=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2946942	NM_000431.4(MVK):c.666A>G (p.Ser222=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2946864	NM_000431.4(MVK):c.677+19A>C	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2946703	NM_000431.4(MVK):c.457C>T (p.Leu153=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2946283	NM_000431.4(MVK):c.319C>T (p.Leu107=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2946092	NM_000431.4(MVK):c.885+15G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2945807	NM_000431.4(MVK):c.371+20A>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2945667	NM_000431.4(MVK):c.1161C>T (p.Ser387=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2945573	NM_000431.4(MVK):c.78+20T>C	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2945416	NM_000431.4(MVK):c.577G>A (p.Glu193Lys)	MVK (E193K +1 more)	Single nucleotide variant (missense variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2945010	NM_000431.4(MVK):c.453G>T (p.Val151=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2944983	NM_000431.4(MVK):c.42C>T (p.Val14=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2944926	NM_000431.4(MVK):c.661_668dup (p.Leu224fs)	MVK (L30fs +2 more)	Duplication (frameshift variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2944349	NM_000431.4(MVK):c.387G>A (p.Leu129=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2944332	NM_000431.4(MVK):c.168T>C (p.Ile56=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2944008	NM_000431.4(MVK):c.1098C>T (p.Asp366=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943950	NM_000431.4(MVK):c.366G>A (p.Lys122=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943883	NM_000431.4(MVK):c.790C>G (p.Leu264Val)	MVK (L212V +3 more)	Single nucleotide variant (missense variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2943745	NM_000431.4(MVK):c.632-8C>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943633	NM_000431.4(MVK):c.885+8C>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943415	NM_000431.4(MVK):c.226+9A>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943275	NM_000431.4(MVK):c.632-9T>C	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943228	NM_000431.4(MVK):c.46_49del (p.Leu16fs)	MVK (L16fs)	Deletion (frameshift variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2943201	NM_000431.4(MVK):c.807T>C (p.Asp269=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943142	NM_000431.4(MVK):c.769-5T>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943097	NM_000431.4(MVK):c.378G>A (p.Leu126=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943069	NM_000431.4(MVK):c.513G>A (p.Gly171=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2942860	NM_000431.4(MVK):c.419G>T (p.Gly140Val)	MVK (G140V)	Single nucleotide variant (missense variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2942555	NM_000431.4(MVK):c.723C>T (p.Arg241=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2942526	NM_000431.4(MVK):c.778A>T (p.Ile260Phe)	MVK (I260F +3 more)	Single nucleotide variant (missense variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2942217	NM_000431.4(MVK):c.207A>G (p.Ser69=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2942023	NM_000431.4(MVK):c.1014C>G (p.Gly338=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2941499	NM_000431.4(MVK):c.1008T>C (p.Gly336=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2941098	NM_000431.4(MVK):c.450G>T (p.Ser150=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2941070	NM_000431.4(MVK):c.230A>G (p.Gln77Arg)	MVK (Q77R)	Single nucleotide variant (missense variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2940966	NM_000431.4(MVK):c.1071G>A (p.Lys357=)	MVK (S361N +1 more)	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2940663	NM_000431.4(MVK):c.435C>T (p.Ser145=)	MVK	Single nucleotide variant (synonymous variant +3 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2940644	NM_000431.4(MVK):c.886-7C>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2940251	NM_000431.4(MVK):c.1143A>C (p.Ser381=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2940096	NM_000431.4(MVK):c.1040-19C>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2939758	NM_000431.4(MVK):c.669C>T (p.Ser223=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2939640	NM_000431.4(MVK):c.129C>A (p.Pro43=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2939597	NM_000431.4(MVK):c.558C>T (p.Asn186=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2939519	NM_000431.4(MVK):c.1066A>G (p.Thr356Ala)	MVK (T304A +3 more)	Single nucleotide variant (missense variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2939218	NM_000431.4(MVK):c.227-20C>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2938908	NM_000431.4(MVK):c.769-18C>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2938522	NM_000431.4(MVK):c.318C>G (p.Arg106=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2938110	NM_000431.4(MVK):c.207_208del (p.Leu70fs)	MVK (L70fs)	Deletion (frameshift variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2937921	NM_000431.4(MVK):c.824G>A (p.Cys275Tyr)	MVK (C81Y +3 more)	Single nucleotide variant (missense variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2937598	NM_000431.4(MVK):c.527+20G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2937492	NM_000431.4(MVK):c.677+13T>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2937267	NM_000431.4(MVK):c.769-5T>C	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2936519	NM_000431.4(MVK):c.342C>T (p.Tyr114=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2936307	NM_000431.4(MVK):c.769-10T>C	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2935728	NM_000431.4(MVK):c.677+11G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2935502	NM_000431.4(MVK):c.573A>G (p.Gln191=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2935382	NM_000431.4(MVK):c.1113C>T (p.Ser371=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2935254	NM_000431.4(MVK):c.78+19C>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign

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