"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ENTPD5"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679762	NM_182476.3(COQ6):c.349C>T (p.Arg117Ter)	COQ6, ENTPD5 (R117* +2 more)	Single nucleotide variant (nonsense +1 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GPathogenic/Likely pathogenic
Select item 1435094	NM_182476.3(COQ6):c.427G>T (p.Val143Leu)	COQ6, ENTPD5 (V118L +4 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GUncertain significance
Select item 214235	NM_182476.3(COQ6):c.436G>T (p.Asp146Tyr)	COQ6, ENTPD5 (D121Y +5 more)	Single nucleotide variant (missense variant +1 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +2 more	GUncertain significance
Select item 512412	NM_182476.3(COQ6):c.498C>T (p.Leu166=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	COQ6-related disorder +2 more	GLikely benign
Select item 1497165	NM_182476.3(COQ6):c.554C>G (p.Ser185Cys)	COQ6, ENTPD5 (S185C +4 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GUncertain significance
Select item 375341	NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)	COQ6, ENTPD5 (W163* +4 more)	Single nucleotide variant (nonsense +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 1483424	NM_182476.3(COQ6):c.855T>G (p.Asp285Glu)	COQ6, ENTPD5 (D260E +6 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GUncertain significance
Select item 1693622	NM_182476.3(COQ6):c.877G>A (p.Val293Ile)	COQ6, ENTPD5 (V268I +6 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GUncertain significance
Select item 214237	NM_182476.3(COQ6):c.917T>C (p.Phe306Ser)	COQ6, ENTPD5 (F281S +8 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +2 more	GUncertain significance
Select item 501128	NM_182476.3(COQ6):c.986G>A (p.Arg329His)	COQ6, ENTPD5 (R304H +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1370573	NM_182476.3(COQ6):c.1078C>T (p.Arg360Trp)	COQ6, ENTPD5 (R335W +8 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GConflicting classifications of pathogenicity
Select item 1693623	NM_182476.3(COQ6):c.1118C>T (p.Pro373Leu)	COQ6, ENTPD5 (P348L +8 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GUncertain significance
Select item 214232	NM_182476.3(COQ6):c.1184C>T (p.Thr395Met)	COQ6, ENTPD5 (T370M +9 more)	Single nucleotide variant (missense variant +1 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +2 more	GBenign
Select item 713500	NM_182476.3(COQ6):c.1319C>A (p.Pro440Gln)	COQ6, ENTPD5 (P415Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1392023	NM_182476.3(COQ6):c.1337C>T (p.Thr446Met)	COQ6, ENTPD5 (T446M +8 more)	Single nucleotide variant (missense variant +1 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GUncertain significance