"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138201	NM_030973.4(MED25):c.-12A>G	MED25	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 476805	NM_030973.4(MED25):c.4G>C (p.Val2Leu)	MED25 (V2L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 415890	NM_030973.4(MED25):c.93C>T (p.Tyr31=)	MED25	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 476796	NM_030973.4(MED25):c.107G>A (p.Arg36His)	MED25 (R36H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 916779	NM_030973.4(MED25):c.125C>T (p.Pro42Leu)	MED25 (P42L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917057	NM_030973.4(MED25):c.134+19A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 916782	NM_030973.4(MED25):c.134+20C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 195385	NM_030973.4(MED25):c.135-6T>G	MED25	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 917360	NM_030973.4(MED25):c.135-1G>A	MED25	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 543294	NM_030973.4(MED25):c.151C>T (p.Pro51Ser)	MED25 (P51S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 195384	NM_030973.4(MED25):c.165G>A (p.Thr55=)	MED25	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 917142	NM_030973.4(MED25):c.168C>T (p.Asp56=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917053	NM_030973.4(MED25):c.186G>A (p.Gly62=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 543263	NM_030973.4(MED25):c.228C>T (p.Cys76=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 329878	NM_030973.4(MED25):c.234C>G (p.Pro78=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign
Select item 220541	NM_030973.4(MED25):c.247C>G (p.Gln83Glu)	MED25 (Q83E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 916777	NM_030973.4(MED25):c.249A>C (p.Gln83His)	MED25 (Q83H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 917049	NM_030973.4(MED25):c.305+17T>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 329879	NM_030973.4(MED25):c.354C>T (p.Leu118=)	MED25	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 287305	NM_030973.4(MED25):c.396C>T (p.Arg132=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 916778	NM_030973.4(MED25):c.413C>T (p.Thr138Met)	MED25 (T138M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 619180	NM_030973.4(MED25):c.556C>T (p.Arg186Trp)	MED25 (R186W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 917361	NM_030973.4(MED25):c.557G>A (p.Arg186Gln)	MED25 (R186Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 917054	NM_030973.4(MED25):c.558G>A (p.Arg186=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917044	NM_030973.4(MED25):c.580C>T (p.Leu194=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 379339	NM_030973.4(MED25):c.597C>A (p.Ala199=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign/Likely benign
Select item 215945	NM_030973.4(MED25):c.664C>T (p.Leu222=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GLikely benign
Select item 917052	NM_030973.4(MED25):c.688+17G>A	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GBenign/Likely benign
Select item 476809	NM_030973.4(MED25):c.689-3C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 698750	NM_030973.4(MED25):c.689T>C (p.Val230Ala)	MED25 (V230A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 655582	NM_030973.4(MED25):c.751G>A (p.Ala251Thr)	MED25 (A251T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 916780	NM_030973.4(MED25):c.807_809del (p.Pro270del)	MED25 (P270del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 811694	NM_030973.4(MED25):c.819+14C>T	MED25	Single nucleotide variant (intron variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +3 more	GBenign/Likely benign
Select item 568032	NM_030973.4(MED25):c.908-3_908-2del	MED25	Microsatellite (splice acceptor variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1324	NM_030973.4(MED25):c.1004C>T (p.Ala335Val)	MED25	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 917046	NM_030973.4(MED25):c.1044C>T (p.Ser348=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 696876	NM_030973.4(MED25):c.1062C>T (p.Ser354=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GBenign/Likely benign
Select item 855342	NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)	MED25 (A364T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 917143	NM_030973.4(MED25):c.1101+24_1101+42dup	MED25	Duplication (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign
Select item 916781	NM_030973.4(MED25):c.1102-11C>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 543270	NM_030973.4(MED25):c.1227A>G (p.Gln409=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 917045	NM_030973.4(MED25):c.1317-16del	MED25, MIR6800	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917141	NM_030973.4(MED25):c.1369C>T (p.Leu457=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GBenign/Likely benign
Select item 543262	NM_030973.4(MED25):c.1374+9C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 329883	NM_030973.4(MED25):c.1377C>T (p.Thr459=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 415889	NM_030973.4(MED25):c.1434G>A (p.Lys478=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 917055	NM_030973.4(MED25):c.1482+17G>A	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 811662	NM_030973.4(MED25):c.1482+19G>A	MED25	Single nucleotide variant (intron variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +3 more	GBenign
Select item 221177	NM_030973.4(MED25):c.1483-7C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B2 +4 more	GBenign
Select item 917051	NM_030973.4(MED25):c.1533C>T (p.Leu511=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 543264	NM_030973.4(MED25):c.1572C>T (p.Gly524=)	MED25	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 917362	NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)	MED25 (G532S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 138199	NM_030973.4(MED25):c.1674+19C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign
Select item 917047	NM_030973.4(MED25):c.1675-18C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 476802	NM_030973.4(MED25):c.1677G>C (p.Met559Ile)	MED25 (M559I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 220933	NM_030973.4(MED25):c.1727C>G (p.Ala576Gly)	MED25 (A576G)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 916784	NM_030973.4(MED25):c.1747-19_1747-18del	MED25	Deletion (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917048	NM_030973.4(MED25):c.1764G>A (p.Pro588=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 215536	NM_030973.4(MED25):c.1794C>T (p.Ala598=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign/Likely benign
Select item 647071	NM_030973.4(MED25):c.1889C>T (p.Pro630Leu)	MED25 (P630L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 916783	NM_030973.4(MED25):c.1966-5C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 329887	NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)	MED25 (P656T)	Single nucleotide variant (missense variant)	Tip-toe gait +3 more	GConflicting classifications of pathogenicity
Select item 138200	NM_030973.4(MED25):c.2031G>A (p.Ala677=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 917056	NM_030973.4(MED25):c.2037G>A (p.Leu679=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 916776	NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)	MED25 (P682L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 697114	NM_030973.4(MED25):c.2046G>A (p.Pro682=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 415888	NM_030973.4(MED25):c.2056C>T (p.Leu686=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 221058	NM_030973.4(MED25):c.2088G>A (p.Leu696=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 916785	NM_030973.4(MED25):c.2146+6G>A	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917050	NM_030973.4(MED25):c.2146+19G>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GBenign/Likely benign
Select item 841303	NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)	MED25 (P731L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance

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Items: 71