"GeneDx"[submitter] AND "MED25"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1262877	NC_000019.10:g.49818253C>T	MED25	Single nucleotide variant	not provided	GBenign
Select item 1233628	NC_000019.10:g.49818255C>G	MED25	Single nucleotide variant	not provided	GBenign
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 452222	NM_030973.4(MED25):c.23C>A (p.Pro8Gln)	MED25 (P8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 195384	NM_030973.4(MED25):c.165G>A (p.Thr55=)	MED25	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1295219	NM_030973.4(MED25):c.180+108G>C	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295218	NM_030973.4(MED25):c.180+227A>G	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295217	NM_030973.4(MED25):c.180+238T>C	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1226702	NM_030973.4(MED25):c.306-27del	MED25	Deletion (intron variant)	not provided	GBenign
Select item 1305611	NM_030973.4(MED25):c.314G>A (p.Gly105Asp)	MED25 (G105D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421749	NM_030973.4(MED25):c.316G>A (p.Gly106Arg)	MED25 (G106R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
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 1030940	NM_030973.4(MED25):c.377A>T (p.Asp126Val)	MED25 (D126V)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +2 more	GUncertain significance
Select item 439877	NM_030973.4(MED25):c.395G>A (p.Arg132His)	MED25 (R132H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 932436	NM_030973.4(MED25):c.518T>C (p.Ile173Thr)	MED25 (I173T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1328837	NM_030973.4(MED25):c.525+28G>A	MED25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382517	NM_030973.4(MED25):c.526-16G>A	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 382522	NM_030973.4(MED25):c.597C>T (p.Ala199=)	MED25	Single nucleotide variant (synonymous variant)	not specified +1 more	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 543216	NM_030973.4(MED25):c.602C>T (p.Pro201Leu)	MED25 (P201L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 574168	NM_030973.4(MED25):c.679G>A (p.Val227Met)	MED25 (V227M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1328862	NM_030973.4(MED25):c.689-27G>C	MED25	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 382518	NM_030973.4(MED25):c.1128G>C (p.Val376=)	MED25	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1303045	NM_030973.4(MED25):c.1148_1165dup (p.Gln383_Ala388dup)	MED25	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 421748	NM_030973.4(MED25):c.1165del (p.Leu389fs)	MED25 (L389fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1302976	NM_030973.4(MED25):c.1202C>T (p.Ala401Val)	MED25 (A401V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1258521	NM_030973.4(MED25):c.1230+148C>T	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295686	NM_030973.4(MED25):c.1230+177C>T	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329756	NM_030973.4(MED25):c.1375-58A>G	MED25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261576	NM_030973.4(MED25):c.1375-55T>C	MED25	Single nucleotide variant (intron variant)	not provided	GBenign
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 1295220	NM_030973.4(MED25):c.1482+200A>G	MED25	Single nucleotide variant (intron variant)	not provided	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 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 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 1302977	NM_030973.4(MED25):c.1691C>T (p.Ala564Val)	MED25 (A564V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
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 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 582337	NM_030973.4(MED25):c.1799G>A (p.Gly600Glu)	MED25 (G600E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 504289	NM_030973.4(MED25):c.1939C>T (p.Arg647Ter)	MED25 (R647*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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

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Items: 48