MED20[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 3003108	NM_004275.5(MED20):c.635G>A (p.Arg212His)	MED20 (R212H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1415514	NM_004275.5(MED20):c.570G>C (p.Met190Ile)	MED20 (M128I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2975722	NM_004275.5(MED20):c.546G>A (p.Ala182=)	MED20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2063409	NM_004275.5(MED20):c.519C>T (p.Pro173=)	MED20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2324483	NM_004275.5(MED20):c.502C>T (p.His168Tyr)	MED20 (H106Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125006	NM_004275.5(MED20):c.481C>G (p.Leu161Val)	MED20 (L161V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2911713	NM_004275.5(MED20):c.474C>T (p.Leu158=)	MED20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2373983	NM_004275.5(MED20):c.472C>T (p.Leu158Phe)	MED20 (L96F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510600	NM_004275.5(MED20):c.434G>A (p.Gly145Asp)	MED20 (A120T +2 more)	Single nucleotide variant (missense variant +1 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 183050	NM_004275.5(MED20):c.341G>C (p.Gly114Ala)	BYSL, MED20 (G114A +1 more)	Single nucleotide variant (missense variant)	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 2861377	NM_004275.5(MED20):c.231C>T (p.Ala77=)	BYSL, MED20	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 36