ClinVar for MedGen (Select 1830493) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254871	NM_006245.4(PPP2R5D):c.1481+1G>A	PPP2R5D	Single nucleotide variant (splice donor variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3237200	NM_006245.4(PPP2R5D):c.1319C>T (p.Ala440Val)	PPP2R5D (A289V +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3237199	NM_006245.4(PPP2R5D):c.608T>C (p.Leu203Pro)	PPP2R5D (L171P +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GLikely pathogenic
Select item 3237198	NM_006245.4(PPP2R5D):c.1607C>G (p.Thr536Arg)	PPP2R5D (T385R +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3237197	NM_006245.4(PPP2R5D):c.256C>T (p.Arg86Trp)	PPP2R5D (R86W)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3237196	NM_006245.4(PPP2R5D):c.1387del (p.His463fs)	PPP2R5D (H312fs +3 more)	Deletion (frameshift variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 3236570	NM_006245.4(PPP2R5D):c.391T>G (p.Phe131Val)	PPP2R5D (F131V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GLikely pathogenic
Select item 2689820	NM_006245.4(PPP2R5D):c.168C>A (p.Asn56Lys)	PPP2R5D (N56K)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 2626874	NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)	PPP2R5D (F111L +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GLikely pathogenic
Select item 2582373	NM_006245.4(PPP2R5D):c.478C>T (p.Arg160Cys)	PPP2R5D (R128C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579483	NM_006245.4(PPP2R5D):c.872C>T (p.Thr291Met)	PPP2R5D (T140M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1878530	NM_006245.4(PPP2R5D):c.1469C>T (p.Ala490Val)	PPP2R5D (A339V +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 1712275	NM_006245.4(PPP2R5D):c.443_444delinsTT (p.Gly148Val)	PPP2R5D (G116V +2 more)	Indel (5 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 1699329	NM_006245.4(PPP2R5D):c.437G>C (p.Arg146Pro)	PPP2R5D (R114P +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GLikely benign
Select item 1686094	NM_006245.4(PPP2R5D):c.620G>C (p.Trp207Ser)	PPP2R5D (W101S +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GPathogenic
Select item 1686092	NM_006245.4(PPP2R5D):c.434A>T (p.Lys145Met)	PPP2R5D (K113M +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GPathogenic
Select item 1685412	NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn)	PPP2R5D (D100N +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1363995	NM_006245.4(PPP2R5D):c.1303A>G (p.Ile435Val)	PPP2R5D (I435V +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GUncertain significance
Select item 1341738	NM_006245.4(PPP2R5D):c.394G>A (p.Val132Met)	PPP2R5D (V100M +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 1333678	NM_006245.4(PPP2R5D):c.621G>C (p.Trp207Cys)	PPP2R5D (W101C +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1325543	NM_006245.4(PPP2R5D):c.1609G>A (p.Glu537Lys)	PPP2R5D (E386K +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GUncertain significance
Select item 1177376	NM_006245.4(PPP2R5D):c.655C>T (p.Arg219Cys)	PPP2R5D (R113C +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GUncertain significance
Select item 1174494	NM_006245.4(PPP2R5D):c.1418T>G (p.Phe473Cys)	PPP2R5D (F322C +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 1034258	NM_006245.4(PPP2R5D):c.160T>C (p.Ser54Pro)	PPP2R5D (S54P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 1034257	NM_006245.4(PPP2R5D):c.101A>C (p.Glu34Ala)	PPP2R5D (E34A)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1 +1 more	GUncertain significance
Select item 1028495	NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr)	MEA1, PPP2R5D (H556Y +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 985406	NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)	PPP2R5D (D100Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 984893	NM_006245.4(PPP2R5D):c.253C>T (p.Arg85Ter)	PPP2R5D (R85*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1	GPathogenic
Select item 984892	NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His)	PPP2R5D (D100H +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 984891	NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly)	PPP2R5D (E165G +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GLikely pathogenic
Select item 984890	NM_006245.4(PPP2R5D):c.1419T>G (p.Phe473Leu)	PPP2R5D (F322L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 984889	NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis)	PPP2R5D	Indel (missense variant)	Hogue-Janssens syndrome 1	GLikely pathogenic
Select item 984827	NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro)	PPP2R5D (R102P +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 982374	NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	PPP2R5D (Q105P +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 978913	NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys)	PPP2R5D (E144K +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 802218	NM_006245.4(PPP2R5D):c.1574C>T (p.Pro525Leu)	PPP2R5D (P419L +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GUncertain significance
Select item 802217	NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu)	PPP2R5D (I233L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 747966	NM_006245.4(PPP2R5D):c.1558C>T (p.Pro520Ser)	PPP2R5D (P488S +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 521616	NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala)	PPP2R5D (D251A +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +2 more	GPathogenic
Select item 429222	NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)	PPP2R5D (R253Q +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 420814	NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)	PPP2R5D (D251V +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 280435	NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)	PPP2R5D (W207R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 217913	NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)	PPP2R5D (E197K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 217912	NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)	PPP2R5D (E420K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 217457	NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg)	PPP2R5D (W207R +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1	GPathogenic
Select item 217456	NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)	PPP2R5D (E200K +3 more)	Single nucleotide variant (missense variant)	Hogue-Janssens syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 217455	NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser)	PPP2R5D (P53S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hogue-Janssens syndrome 1	GPathogenic
Select item 190287	NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg)	PPP2R5D (P201R +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 190286	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	MEA1, PPP2R5D (E198K +3 more)	Single nucleotide variant (missense variant)	Intellectual disability +6 more	GPathogenic

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Items: 49