"Ambry Genetics"[submitter] AND "BYSL"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2214382	NM_004053.4(BYSL):c.23G>A (p.Arg8His)	BYSL (R8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535935	NM_004053.4(BYSL):c.64C>G (p.Gln22Glu)	BYSL (Q22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262350	NM_004053.4(BYSL):c.97G>T (p.Val33Phe)	BYSL (V33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262346	NM_004053.4(BYSL):c.100C>T (p.Arg34Trp)	BYSL (R34W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539864	NM_004053.4(BYSL):c.187C>T (p.Arg63Trp)	BYSL (R63W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262351	NM_004053.4(BYSL):c.208G>C (p.Glu70Gln)	BYSL (E70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262356	NM_004053.4(BYSL):c.212C>G (p.Ala71Gly)	BYSL (A71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135640	NM_004053.4(BYSL):c.260C>T (p.Thr87Met)	BYSL (T87M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135641	NM_004053.4(BYSL):c.274A>G (p.Arg92Gly)	BYSL (R92G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511996	NM_004053.4(BYSL):c.434G>A (p.Arg145His)	BYSL (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330377	NM_004053.4(BYSL):c.484G>A (p.Val162Ile)	BYSL (V162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529334	NM_004053.4(BYSL):c.489G>C (p.Glu163Asp)	BYSL (E163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262352	NM_004053.4(BYSL):c.520A>G (p.Met174Val)	BYSL (M174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209908	NM_004053.4(BYSL):c.566G>A (p.Arg189Gln)	BYSL (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135642	NM_004053.4(BYSL):c.577T>C (p.Ser193Pro)	BYSL (S193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397958	NM_004053.4(BYSL):c.586C>T (p.Arg196Cys)	BYSL (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593608	NM_004053.4(BYSL):c.587G>T (p.Arg196Leu)	BYSL (R196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260980	NM_004053.4(BYSL):c.628C>T (p.Leu210Phe)	BYSL (L210F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607885	NM_004053.4(BYSL):c.635A>G (p.Asn212Ser)	BYSL (N212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262354	NM_004053.4(BYSL):c.639G>C (p.Trp213Cys)	BYSL (W213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387907	NM_004053.4(BYSL):c.784G>A (p.Val262Ile)	BYSL (V262I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393315	NM_004053.4(BYSL):c.800G>A (p.Arg267Gln)	BYSL (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367179	NM_004053.4(BYSL):c.919A>G (p.Ile307Val)	BYSL (I307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558976	NM_004053.4(BYSL):c.1012A>T (p.Asn338Tyr)	BYSL (N338Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262353	NM_004053.4(BYSL):c.1216C>T (p.Arg406Trp)	BYSL (R406W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135639	NM_004053.4(BYSL):c.1217G>A (p.Arg406Gln)	BYSL (R406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262349	NM_004053.4(BYSL):c.1256G>A (p.Arg419His)	BYSL (R419H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262355	NM_004053.4(BYSL):c.1279C>T (p.Arg427Cys)	BYSL (R427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375911	NM_004053.4(BYSL):c.1280G>A (p.Arg427His)	BYSL (R427H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471216	NM_004053.4(BYSL):c.1285G>A (p.Val429Met)	BYSL (V429M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237035	NM_004053.4(BYSL):c.1291G>A (p.Asp431Asn)	BYSL (D431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262347	NM_004053.4(BYSL):c.1300A>G (p.Ile434Val)	BYSL (I434V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3262348	NM_004053.4(BYSL):c.1306G>A (p.Val436Met)	BYSL (V436M)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 38