ClinVar for MedGen (Select 897292) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254551	NM_030973.4(MED25):c.1950_1951insTT (p.Leu651fs)	MED25 (L651fs)	Insertion (frameshift variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 3063666	NM_030973.4(MED25):c.2T>G (p.Met1Arg)	MED25 (M1R)	Single nucleotide variant (missense variant +1 more)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GLikely pathogenic
Select item 2921235	NM_030973.3(MED25):c.1482+1G>A	MED25	Single nucleotide variant	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 2627529	NM_030973.4(MED25):c.1388C>G (p.Pro463Arg)	MED25 (P463R)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 2433726	NM_030973.4(MED25):c.1702C>G (p.Leu568Val)	MED25 (L568V)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 2433725	NM_030973.4(MED25):c.671G>A (p.Arg224Gln)	MED25 (R224Q)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 1405186	NM_030973.4(MED25):c.1230+7G>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1046217	NM_030973.4(MED25):c.1396C>T (p.Arg466Trp)	MED25 (R466W)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +1 more	GUncertain significance
Select item 1032919	NM_030973.4(MED25):c.1934A>G (p.Gln645Arg)	MED25 (Q645R)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
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 1027040	NM_030973.4(MED25):c.1366C>T (p.Gln456Ter)	MED25 (Q456*)	Single nucleotide variant (nonsense)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1004653	NM_030973.4(MED25):c.740del (p.Leu247fs)	MED25 (L247fs)	Deletion (frameshift variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 995689	NM_030973.4(MED25):c.930A>T (p.Gln310His)	MED25 (Q310H)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +1 more	GUncertain significance
Select item 994068	NM_030973.4(MED25):c.1855C>A (p.Gln619Lys)	MED25 (Q619K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 973234	NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)	MED25 (N543fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 942827	NM_030973.4(MED25):c.1964C>T (p.Pro655Leu)	MED25 (P655L)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +2 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 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 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 784760	NM_030973.4(MED25):c.1899C>T (p.Pro633=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 698358	NM_030973.4(MED25):c.633A>T (p.Thr211=)	MED25	Single nucleotide variant (synonymous variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +2 more	GLikely benign
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 619179	NM_030973.4(MED25):c.1919del (p.Pro640fs)	MED25 (P640fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 575396	NM_030973.4(MED25):c.1786G>A (p.Val596Ile)	MED25 (V596I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 476797	NM_030973.4(MED25):c.1231-8C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
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 415890	NM_030973.4(MED25):c.93C>T (p.Tyr31=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely 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 329886	NM_030973.4(MED25):c.1675-7C>T	MED25	Single nucleotide variant (intron variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +4 more	GBenign/Likely benign
Select item 241615	NM_030973.4(MED25):c.904C>T (p.Arg302Cys)	MED25 (R302C)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +1 more	GUncertain significance
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 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 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 216779	NM_030973.4(MED25):c.1438C>G (p.Leu480Val)	MED25 (L480V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 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 203445	NM_030973.4(MED25):c.116A>G (p.Tyr39Cys)	MED25 (Y39C)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GPathogenic
Select item 183670	NM_030973.4(MED25):c.418C>T (p.Arg140Trp)	MED25 (R140W)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic
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 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 1324	NM_030973.4(MED25):c.1004C>T (p.Ala335Val)	MED25	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity

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Items: 41