ClinVar for MedGen (Select 899880) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236825	NM_014225.6(PPP2R1A):c.400C>T (p.Arg134Trp)	PPP2R1A (R134W)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GLikely pathogenic
Select item 3236657	NM_014225.6(PPP2R1A):c.656C>G (p.Ser219Trp)	PPP2R1A (S219W +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 3236012	NM_014225.6(PPP2R1A):c.737C>G (p.Pro246Arg)	PPP2R1A (P246R +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 2689819	NM_014225.6(PPP2R1A):c.1765G>A (p.Ala589Thr)	PPP2R1A (A410T +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2 +1 more	GUncertain significance
Select item 2504581	NM_014225.6(PPP2R1A):c.1493G>T (p.Arg498Leu)	PPP2R1A (R319L +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GLikely pathogenic
Select item 2504580	NM_014225.6(PPP2R1A):c.1409T>C (p.Val470Ala)	PPP2R1A (V291A +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 2504579	NM_014225.6(PPP2R1A):c.843dup (p.Asp282fs)	PPP2R1A (D103fs +1 more)	Duplication (frameshift variant +1 more)	Houge-Janssens syndrome 2	GPathogenic
Select item 2498148	NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)	PPP2R1A (I32M)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GLikely pathogenic
Select item 2435228	NM_014225.6(PPP2R1A):c.450C>G (p.Leu150=)	PPP2R1A	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 2435227	NM_014225.6(PPP2R1A):c.751G>A (p.Ala251Thr)	PPP2R1A (A251T +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 2435226	NM_014225.6(PPP2R1A):c.1479del (p.Asn494fs)	PPP2R1A (N315fs +1 more)	Deletion (frameshift variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 2430276	NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala)	PPP2R1A (T178A)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GLikely pathogenic
Select item 1895454	NM_014225.6(PPP2R1A):c.337C>T (p.Arg113Trp)	PPP2R1A (R113W)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 1699184	NM_014225.6(PPP2R1A):c.536C>A (p.Pro179His)	PPP2R1A (P179H)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GLikely pathogenic
Select item 1679150	NM_014225.6(PPP2R1A):c.475T>G (p.Ser159Ala)	PPP2R1A (S159A)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 1570776	NM_014225.6(PPP2R1A):c.1364-16C>G	PPP2R1A	Single nucleotide variant (intron variant)	Houge-Janssens syndrome 2 +1 more	GBenign/Likely benign
Select item 1372237	NM_014225.6(PPP2R1A):c.343A>G (p.Ile115Val)	PPP2R1A (I115V)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2 +1 more	GUncertain significance
Select item 1204633	NM_014225.6(PPP2R1A):c.538A>G (p.Met180Val)	PPP2R1A (M180V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 1197324	NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys)	PPP2R1A (R144C)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1032611	NM_014225.6(PPP2R1A):c.775G>A (p.Val259Ile)	PPP2R1A (V259I +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 1031810	NM_014225.6(PPP2R1A):c.1306G>A (p.Val436Met)	PPP2R1A (V436M +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 1031809	NM_014225.6(PPP2R1A):c.*136C>T	PPP2R1A	Single nucleotide variant (3 prime UTR variant +1 more)	Houge-Janssens syndrome 2 +1 more	GUncertain significance
Select item 1029258	NM_014225.6(PPP2R1A):c.15C>G (p.Asp5Glu)	PPP2R1A (D5E)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2	GUncertain significance
Select item 976337	NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu)	PPP2R1A (P92L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 957599	NM_014225.6(PPP2R1A):c.352G>A (p.Glu118Lys)	PPP2R1A (E118K)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 916077	NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)	PPP2R1A (S219P +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 804149	NM_014225.6(PPP2R1A):c.754G>A (p.Ala252Thr)	PPP2R1A (A252T +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 684494	NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr)	PPP2R1A (M180T +1 more)	Single nucleotide variant (missense variant +2 more)	Houge-Janssens syndrome 2 +1 more	GPathogenic
Select item 521503	NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)	PPP2R1A (S219L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 376506	NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)	PPP2R1A (R183Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 376505	NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)	PPP2R1A (R183W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 217458	NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)	PPP2R1A (R258H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 190313	NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu)	PPP2R1A (P179L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic
Select item 190312	NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)	PPP2R1A (R182W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 135073	NM_014225.6(PPP2R1A):c.75T>G (p.Val25=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign

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Items: 35