"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ENTPD5"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1416161	NM_182476.3(COQ6):c.346C>T (p.Arg116Trp)	COQ6, ENTPD5 (R91W +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1389351	NM_182476.3(COQ6):c.367G>A (p.Ala123Thr)	COQ6, ENTPD5 (A123T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 214234	NM_182476.3(COQ6):c.395A>G (p.Asp132Gly)	COQ6, ENTPD5 (D107G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1049547	NM_182476.3(COQ6):c.449A>G (p.His150Arg)	COQ6, ENTPD5 (H125R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 128835	NM_182476.3(COQ6):c.570T>C (p.His190=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 2049324	NM_182476.3(COQ6):c.655G>A (p.Gly219Arg)	COQ6, ENTPD5 (G219R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1693622	NM_182476.3(COQ6):c.877G>A (p.Val293Ile)	COQ6, ENTPD5 (V268I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 128833	NM_182476.3(COQ6):c.1016A>T (p.Asp339Val)	COQ6, ENTPD5 (D314V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 1987524	NM_182476.3(COQ6):c.1109G>A (p.Arg370Lys)	ENTPD5, COQ6 (R345K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3380220	NM_182476.3(COQ6):c.1115A>G (p.His372Arg)	COQ6, ENTPD5 (H192R +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1693623	NM_182476.3(COQ6):c.1118C>T (p.Pro373Leu)	COQ6, ENTPD5 (P348L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GUncertain significance
Select item 128834	NM_182476.3(COQ6):c.1216G>A (p.Val406Met)	COQ6, ENTPD5 (V381M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign