ClinVar for MedGen (Select 1684735) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434847	NM_004204.5(PIGQ):c.1556G>C (p.Arg519Pro)	PIGQ (R519P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 77	GUncertain significance
Select item 2434846	NM_004204.5(PIGQ):c.1673del (p.Gly558fs)	PIGQ (G558fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 77	GUncertain significance
Select item 2434845	NM_004204.5(PIGQ):c.1075_1085del (p.Ile359fs)	PIGQ (I359fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 77	GUncertain significance
Select item 1675110	NM_004204.5(PIGQ):c.1012C>G (p.Arg338Gly)	PIGQ (R338G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77 +1 more	GUncertain significance
Select item 1675109	NM_004204.5(PIGQ):c.880T>C (p.Ser294Pro)	PIGQ (S294P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77	GUncertain significance
Select item 1403147	NM_004204.5(PIGQ):c.271G>C (p.Glu91Gln)	PIGQ (E91Q)	Single nucleotide variant (missense variant)	Epilepsy +1 more	GUncertain significance
Select item 1370636	NM_004204.5(PIGQ):c.325G>A (p.Ala109Thr)	PIGQ (A109T)	Single nucleotide variant (missense variant)	Epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1324910	NM_004204.5(PIGQ):c.241del (p.Leu81fs)	PIGQ (L81fs)	Deletion (frameshift variant)	Epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 1302017	NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg)	PIGQ (G449R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77	GLikely pathogenic
Select item 1185567	NM_004204.5(PIGQ):c.1532-68G>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185518	NM_004204.5(PIGQ):c.1532-110C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185517	NM_004204.5(PIGQ):c.1532-133G>A	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1185516	NM_004204.5(PIGQ):c.1416+142T>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1185515	NM_004204.5(PIGQ):c.1416+104C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185514	NM_004204.5(PIGQ):c.1336-94C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185513	NM_004204.5(PIGQ):c.1224-63C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1185512	NM_004204.5(PIGQ):c.943-77A>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185511	NM_004204.5(PIGQ):c.942+92A>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185510	NM_004204.5(PIGQ):c.-9-1501A>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185305	NM_004204.5(PIGQ):c.1532-23T>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185304	NM_004204.5(PIGQ):c.1532-50T>A	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1164858	NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser)	PIGQ (G523S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1164857	NM_004204.5(PIGQ):c.1532-15T>C	PIGQ	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1164856	NM_004204.5(PIGQ):c.1532-17del	PIGQ	Deletion (intron variant)	not specified +3 more	GBenign
Select item 1164855	NM_004204.5(PIGQ):c.1461C>G (p.Leu487=)	PIGQ	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1164854	NM_004204.5(PIGQ):c.639C>T (p.Cys213=)	PIGQ	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1164853	NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala)	PIGQ (T14A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1063676	NM_004204.5(PIGQ):c.503C>T (p.Thr168Met)	PIGQ (T168M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77 +1 more	GUncertain significance
Select item 1005610	NM_004204.5(PIGQ):c.618G>C (p.Arg206Ser)	PIGQ (R206S)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 1002772	NM_004204.5(PIGQ):c.530G>A (p.Arg177His)	PIGQ (R177H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77 +1 more	GConflicting classifications of pathogenicity
Select item 995848	NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs)	PIGQ (R527fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 77	GPathogenic
Select item 654701	NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln)	PIGQ (R22Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77 +2 more	GUncertain significance
Select item 526274	NM_004204.5(PIGQ):c.91G>A (p.Val31Met)	PIGQ (V31M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77 +3 more	GUncertain significance
Select item 520669	NM_004204.5(PIGQ):c.968_969del (p.Leu323fs)	PIGQ (L323fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 456046	NM_004204.5(PIGQ):c.350C>T (p.Ala117Val)	PIGQ (A117V)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 453003	NM_004204.5(PIGQ):c.942+1G>A	PIGQ	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 449630	NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del)	PIGQ (Y400del)	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 183339	NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)	PIGQ (R207*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 140458	NM_004204.5(PIGQ):c.690-2A>G	PIGQ	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 77	GPathogenic

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Items: 39