C3553349[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31598	NM_182476.3(COQ6):c.484C>T (p.Arg162Ter)	COQ6, ENTPD5 (R162* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 375341	NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)	COQ6, ENTPD5 (W163* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 375342	NM_182476.3(COQ6):c.763G>A (p.Gly255Arg)	ENTPD5, COQ6 (G230R +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 31595	NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp)	COQ6, ENTPD5 (A353D +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 375343	NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys)	COQ6, ENTPD5 (Y387C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 375344	NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter)	COQ6, ENTPD5 (W422* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 375345	NM_182476.3(COQ6):c.1383del (p.Ile462fs)	COQ6, ENTPD5 (I437fs +9 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance