ClinVar for MedGen (Select 766272) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434640	NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)	PDSS2 (G357V)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 2040436	NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)	PDSS2 (W247*)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 3 +1 more	GUncertain significance
Select item 1954682	NM_020381.4(PDSS2):c.1042-1G>A	PDSS2	Single nucleotide variant (splice acceptor variant)	Coenzyme Q10 deficiency, primary, 3 +1 more	GConflicting classifications of pathogenicity
Select item 1661681	NM_020381.4(PDSS2):c.1008+17C>T	PDSS2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 3 +1 more	GLikely benign
Select item 1646701	NM_020381.4(PDSS2):c.702+16G>A	PDSS2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 3 +1 more	GLikely benign
Select item 1498538	NM_020381.4(PDSS2):c.1096C>T (p.Arg366Cys)	PDSS2 (R366C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1487136	NM_020381.4(PDSS2):c.50C>T (p.Ser17Leu)	PDSS2 (S17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1481116	NM_020381.4(PDSS2):c.500A>G (p.Asn167Ser)	PDSS2 (N167S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1440087	NM_020381.4(PDSS2):c.488G>A (p.Arg163His)	PDSS2 (R163H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1430741	NM_020381.4(PDSS2):c.382G>A (p.Val128Met)	PDSS2 (V128M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032839	NM_020381.4(PDSS2):c.837G>A (p.Met279Ile)	PDSS2 (M279I)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 1030705	NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp)	PDSS2 (A384D)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 740822	NM_020381.4(PDSS2):c.1002C>T (p.Ile334=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 671641	NM_020381.4(PDSS2):c.876+48C>T	PDSS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 522780	NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs)	PDSS2 (R397fs)	Deletion (frameshift variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 516466	NM_020381.4(PDSS2):c.877-20C>T	PDSS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 515351	NM_020381.4(PDSS2):c.1134C>T (p.Ser378=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 507812	NM_020381.4(PDSS2):c.81G>A (p.Pro27=)	PDSS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 378357	NM_020381.4(PDSS2):c.1009-14C>G	PDSS2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 3 +2 more	GBenign/Likely benign
Select item 261252	NM_020381.4(PDSS2):c.348G>T (p.Val116=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 214989	NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)	PDSS2 (R349Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 214988	NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu)	PDSS2 (K234E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214987	NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)	PDSS2 (V223I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 138688	NM_020381.4(PDSS2):c.431+17C>T	PDSS2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 3 +2 more	GBenign/Likely benign
Select item 1201	NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)	PDSS2 (S382L)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1200	NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter)	PDSS2 (Q322*)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 3	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 26