"GeneDx"[submitter] AND "PPM1D"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1231904	NC_000017.11:g.60599897G>C	PPM1D	Single nucleotide variant	not provided	GBenign
Select item 1287274	NC_000017.11:g.60600041C>G	PPM1D	Single nucleotide variant	not provided	GBenign
Select item 1297794	NC_000017.11:g.60600186del	PPM1D	Deletion	not provided	GBenign
Select item 1278802	NM_003620.4(PPM1D):c.-196T>C	PPM1D	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277034	NM_003620.4(PPM1D):c.90G>A (p.Glu30=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266122	NM_003620.4(PPM1D):c.472+342G>C	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279272	NM_003620.4(PPM1D):c.701+82G>C	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289641	NM_003620.4(PPM1D):c.702-279G>T	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237361	NM_003620.4(PPM1D):c.702-137C>T	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222145	NM_003620.4(PPM1D):c.826+214T>A	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248023	NM_003620.4(PPM1D):c.827-12C>A	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268529	NM_003620.4(PPM1D):c.1017+273G>T	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179594	NM_003620.4(PPM1D):c.1018-134dup	PPM1D	Duplication (intron variant)	not provided	GBenign
Select item 1206722	NM_003620.4(PPM1D):c.1018-134del	PPM1D	Deletion (intron variant)	not provided	GLikely benign
Select item 1260624	NM_003620.4(PPM1D):c.1018-115A>T	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702627	NM_003620.4(PPM1D):c.1046T>C (p.Met349Thr)	PPM1D (M349T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368415	NM_003620.4(PPM1D):c.1141A>C (p.Asn381His)	PPM1D (N381H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817665	NM_003620.4(PPM1D):c.1188_1191del (p.Asp397fs)	PPM1D (D397fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2502142	NM_003620.4(PPM1D):c.1200del (p.Tyr401fs)	PPM1D (Y401fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2444798	NM_003620.4(PPM1D):c.1206_1212del (p.Asn402fs)	PPM1D (N402fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 449085	NM_003620.4(PPM1D):c.1210C>T (p.Gln404Ter)	PPM1D (Q404*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 503784	NM_003620.4(PPM1D):c.1212del (p.Glu405fs)	PPM1D (E405fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 452427	NM_003620.4(PPM1D):c.1215_1216del (p.Glu405fs)	PPM1D (E405fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2504277	NM_003620.4(PPM1D):c.1220dup (p.Cys407fs)	PPM1D (C407fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1329652	NM_003620.4(PPM1D):c.1221del (p.Cys407fs)	PPM1D (C407fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 524006	NM_003620.4(PPM1D):c.1246_1249dup (p.Pro417fs)	PPM1D (P417fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1222493	NM_003620.4(PPM1D):c.1261-279G>C	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371785	NM_003620.4(PPM1D):c.1261-1G>T	PPM1D	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1704248	NM_003620.4(PPM1D):c.1262C>A (p.Ser421Ter)	PPM1D (S421*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 985752	NM_003620.4(PPM1D):c.1262C>G (p.Ser421Ter)	PPM1D (S421*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 392920	NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter)	PPM1D (E423*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1704910	NM_003620.4(PPM1D):c.1280G>A (p.Trp427Ter)	PPM1D (W427*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +1 more	GPathogenic
Select item 452930	NM_003620.4(PPM1D):c.1297_1298del (p.Lys433fs)	PPM1D (K433fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 817202	NM_003620.4(PPM1D):c.1422del (p.Glu475fs)	PPM1D (E475fs)	Deletion (frameshift variant)	not provided	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 488841	NM_003620.4(PPM1D):c.1451T>G (p.Leu484Ter)	PPM1D (L484*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2505668	NM_003620.4(PPM1D):c.1535dup (p.Asn512fs)	PPM1D (N512fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 817626	NM_003620.4(PPM1D):c.1535del (p.Asn512fs)	PPM1D (N512fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1693011	NM_003620.4(PPM1D):c.1570C>T (p.Gln524Ter)	PPM1D (Q524*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2572718	NM_003620.4(PPM1D):c.1615G>T (p.Glu539Ter)	PPM1D (E539*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 452478	NM_003620.4(PPM1D):c.1636dup (p.Leu546fs)	PPM1D (L546fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1707213	NM_003620.4(PPM1D):c.1636del (p.Pro545_Leu546insTer)	PPM1D	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 521766	NM_003620.4(PPM1D):c.1637del (p.Leu546fs)	PPM1D (L546fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2428926	NM_003620.4(PPM1D):c.1669C>T (p.Arg557Ter)	PPM1D (R557*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 546016	NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)	PPM1D (R572*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +2 more	GConflicting classifications of pathogenicity
Select item 2663469	NM_003620.4(PPM1D):c.1737_1744del (p.Met580fs)	PPM1D (M580fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1327196	NM_003620.4(PPM1D):c.1741C>T (p.Arg581Ter)	PPM1D (R581*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2577665	NM_003620.4(PPM1D):c.1784T>C (p.Leu595Pro)	PPM1D (L595P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341023	NM_003620.4(PPM1D):c.1789C>T (p.Gln597Ter)	PPM1D (Q597*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 54