Related gene-specific medical variations for Gene (Select 9477) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125007	NM_004275.5(MED20):c.7G>A (p.Val3Met)	MED20, BYSL (V3M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125005	NM_004275.5(MED20):c.407G>A (p.Arg136Gln)	MED20, BYSL (R74Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125004	NM_004275.5(MED20):c.229G>A (p.Ala77Thr)	MED20, BYSL (A15T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2887653	NM_004275.5(MED20):c.82T>C (p.Leu28=)	BYSL, LOC126859675 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2861377	NM_004275.5(MED20):c.231C>T (p.Ala77=)	BYSL, MED20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2854121	NM_004275.5(MED20):c.148G>A (p.Ala50Thr)	BYSL, LOC126859675 +1 more (A50T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2798835	NM_004275.5(MED20):c.218T>A (p.Leu73Ter)	BYSL, MED20 (L11* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2764444	NM_004275.5(MED20):c.144G>A (p.Thr48=)	BYSL, LOC126859675 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2605016	NM_004275.5(MED20):c.177C>T (p.Thr59=)	BYSL, MED20	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2202265	NM_004275.5(MED20):c.76C>T (p.Arg26Trp)	BYSL, LOC126859675 +1 more (R26W)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 2191460	NM_004275.5(MED20):c.228C>T (p.Phe76=)	BYSL, MED20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168540	NM_004275.5(MED20):c.222C>T (p.Ser74=)	BYSL, MED20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075390	NM_004275.5(MED20):c.147C>T (p.Ala49=)	BYSL, LOC126859675 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1958182	NM_004275.5(MED20):c.188T>G (p.Met63Arg)	BYSL, MED20 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396185	NM_004275.5(MED20):c.148G>T (p.Ala50Ser)	BYSL, LOC126859675 +1 more (A50S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1356938	NM_004275.5(MED20):c.88A>G (p.Met30Val)	BYSL, LOC126859675 +1 more (M30V)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 432783	NM_004275.5(MED20):c.253C>T (p.Leu85Phe)	BYSL, MED20 (L85F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 183050	NM_004275.5(MED20):c.341G>C (p.Gly114Ala)	BYSL, MED20 (G114A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance