ClinVar for MedGen (Select 1385744) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892167	NM_003620.4(PPM1D):c.925A>G (p.Ile309Val)	PPM1D (I309V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more	GUncertain significance
Select item 3777116	NM_003620.4(PPM1D):c.1386dup (p.Gly463fs)	PPM1D (G463fs)	Duplication (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 3544373	NM_003620.4(PPM1D):c.1273_1274insT (p.Asp425fs)	PPM1D (D425fs)	Insertion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GLikely pathogenic
Select item 3376270	NM_003620.4(PPM1D):c.1018-11T>G	PPM1D	Single nucleotide variant (intron variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 3342254	NM_003620.4(PPM1D):c.1203dup (p.Asn402Ter)	PPM1D (N402*)	Duplication (nonsense)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 3254874	NM_003620.4(PPM1D):c.1503_1507del (p.Ser503fs)	PPM1D (S503fs)	Deletion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 3238648	NM_003620.4(PPM1D):c.1216dup (p.Thr406fs)	PPM1D (T406fs)	Duplication (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 3068489	NM_003620.4(PPM1D):c.1728del (p.Lys577fs)	PPM1D (K577fs)	Deletion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 3024290	NM_003620.4(PPM1D):c.1204_1208del (p.Asn402fs)	PPM1D (N402fs)	Deletion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more	GPathogenic
Select item 2689818	NM_003620.4(PPM1D):c.1017+10G>T	PPM1D	Single nucleotide variant (intron variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 2585384	NM_003620.4(PPM1D):c.1015A>G (p.Met339Val)	PPM1D (M339V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 2445214	NM_003620.4(PPM1D):c.1372C>T (p.Arg458Ter)	PPM1D (R458*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2442251	NM_003620.4(PPM1D):c.1288del (p.Arg429_Val430insTer)	PPM1D	Deletion (nonsense)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 2435221	NM_003620.4(PPM1D):c.756_759del (p.His253fs)	PPM1D (H253fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 2432831	NM_003620.4(PPM1D):c.1224dup (p.Met409fs)	PPM1D (M409fs)	Duplication (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GLikely pathogenic
Select item 1802564	NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)	PPM1D (C478*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +2 more	GPathogenic/Likely pathogenic
Select item 1723225	NM_003620.4(PPM1D):c.1349T>G (p.Leu450Ter)	PPM1D (L450*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more	GConflicting classifications of pathogenicity
Select item 1710039	NM_003620.4(PPM1D):c.1384C>T (p.Gln462Ter)	PPM1D (Q462*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more	GLikely pathogenic
Select item 1705672	NM_003620.4(PPM1D):c.1249_1250insA (p.Pro417fs)	PPM1D (P417fs)	Insertion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GLikely pathogenic
Select item 1704910	NM_003620.4(PPM1D):c.1280G>A (p.Trp427Ter)	PPM1D (W427*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1704248	NM_003620.4(PPM1D):c.1262C>A (p.Ser421Ter)	PPM1D (S421*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1687597	NM_003620.4(PPM1D):c.1221_1222insTC (p.Val408fs)	PPM1D (V408fs)	Insertion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GLikely pathogenic
Select item 1676485	NM_003620.4(PPM1D):c.1412del (p.Pro471fs)	PPM1D (P471fs)	Deletion	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GLikely pathogenic
Select item 1341773	NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg)	PPM1D (S89R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1324960	NM_003620.4(PPM1D):c.1244dup (p.Thr416fs)	PPM1D (T416fs)	Duplication (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GLikely pathogenic
Select item 1297004	NM_003620.4(PPM1D):c.1727_1728delinsC (p.Val576fs)	PPM1D (V576fs)	Indel (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 1049549	NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp)	PPM1D (S44W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more	GConflicting classifications of pathogenicity
Select item 1031347	NM_003620.4(PPM1D):c.356A>G (p.His119Arg)	PPM1D (H119R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 1031346	NM_003620.4(PPM1D):c.1278dup (p.Trp427fs)	PPM1D (W427fs)	Duplication (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 1029733	NM_003620.4(PPM1D):c.134T>C (p.Leu45Pro)	PPM1D (L45P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 982378	NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs)	PPM1D (G463fs)	Indel (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 976152	NM_003620.4(PPM1D):c.1606del (p.Arg536fs)	PPM1D (R536fs)	Deletion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GLikely pathogenic
Select item 817626	NM_003620.4(PPM1D):c.1535del (p.Asn512fs)	PPM1D (N512fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GPathogenic
Select item 696037	NM_003620.4(PPM1D):c.1149A>C (p.Gly383=)	PPM1D	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 638685	NM_003620.4(PPM1D):c.1259dup (p.Ser421fs)	PPM1D (S421fs)	Duplication (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 625529	NM_003620.4(PPM1D):c.1248_1252del (p.Pro417fs)	PPM1D (P417fs)	Deletion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 620148	NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)	PPM1D (R552*)	Single nucleotide variant (nonsense)	PPM1D-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 559877	NM_003620.4(PPM1D):c.1277del (p.Pro426fs)	PPM1D (P426fs)	Deletion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GLikely pathogenic
Select item 546016	NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)	PPM1D (R572*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 444411	NM_003620.4(PPM1D):c.1237_1238del (p.Pro413fs)	PPM1D (P413fs)	Deletion (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more	GLikely pathogenic
Select item 424879	NM_003620.4(PPM1D):c.1250dup (p.Pro418fs)	PPM1D (P418fs)	Duplication (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 424878	NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter)	PPM1D (W427*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 424877	NM_003620.4(PPM1D):c.1270dup (p.Glu424fs)	PPM1D (E424fs)	Duplication (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GPathogenic
Select item 424876	NM_003620.4(PPM1D):c.1216del (p.Thr406fs)	PPM1D (T406fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 424875	NM_003620.4(PPM1D):c.1221T>A (p.Cys407Ter)	PPM1D (C407*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more	GPathogenic/Likely pathogenic
Select item 259103	NM_003620.4(PPM1D):c.456C>T (p.Ala152=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 223932	NM_003620.4(PPM1D):c.1017+51A>G	PPM1D	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GBenign/Likely benign

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Links from MedGen

Items: 47