C1848526[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212455	NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)	TSEN54 (S28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 198637	NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)	TSEN54 (R208W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 265282	NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)	TSEN54 (K224fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 4 +3 more	GPathogenic
Select item 2120	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	TSEN54 (A307S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4 +14 more	GPathogenic/Likely pathogenic
Select item 1385645	NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys)	TSEN54 (R316C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 620188	NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)	TSEN54 (K347*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 586846	NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr)	TSEN54 (K347Y)	Indel (missense variant)	not provided +3 more	GUncertain significance
Select item 1219861	NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln)	TSEN54 (R379Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1491165	NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp)	TSEN54 (R396W)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4 +3 more	GUncertain significance
Select item 1210718	NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln)	TSEN54 (R438Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance