"MED25-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 543294	NM_030973.4(MED25):c.151C>T (p.Pro51Ser)	MED25 (P51S)	Single nucleotide variant (missense variant)	MED25-related disorder +2 more	GLikely benign
Select item 3047809	NM_030973.4(MED25):c.264C>T (p.Thr88=)	MED25	Single nucleotide variant (synonymous variant)	MED25-related disorder	GLikely benign
Select item 698949	NM_030973.4(MED25):c.275A>T (p.Tyr92Phe)	MED25 (Y92F)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 287305	NM_030973.4(MED25):c.396C>T (p.Arg132=)	MED25	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 698803	NM_030973.4(MED25):c.570G>C (p.Ala190=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 699953	NM_030973.4(MED25):c.600C>T (p.Pro200=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 409954	NM_030973.4(MED25):c.638T>C (p.Val213Ala)	MED25 (V213A)	Single nucleotide variant (missense variant)	MED25-related disorder +1 more	GLikely benign
Select item 3040403	NM_030973.4(MED25):c.684G>A (p.Leu228=)	MED25	Single nucleotide variant (synonymous variant)	MED25-related disorder	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 +2 more	GLikely benign
Select item 1565691	NM_030973.4(MED25):c.750C>G (p.Ala250=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1324	NM_030973.4(MED25):c.1004C>T (p.Ala335Val)	MED25	Single nucleotide variant (missense variant)	MED25-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2137926	NM_030973.4(MED25):c.1512G>A (p.Ala504=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1585612	NM_030973.4(MED25):c.1785C>T (p.Thr595=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2201606	NM_030973.4(MED25):c.1788A>G (p.Val596=)	MED25	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 695941	NM_030973.4(MED25):c.1989C>T (p.Pro663=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign