"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PPM1D"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027143	NM_003620.4(PPM1D):c.101C>T (p.Thr34Met)	PPM1D (T34M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049549	NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp)	PPM1D (S44W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3067772	NM_003620.4(PPM1D):c.134T>A (p.Leu45Gln)	PPM1D (L45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672703	NM_003620.4(PPM1D):c.194G>A (p.Gly65Glu)	PPM1D (G65E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 696501	NM_003620.4(PPM1D):c.234T>A (p.Pro78=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 259103	NM_003620.4(PPM1D):c.456C>T (p.Ala152=)	PPM1D	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold +3 more	GBenign/Likely benign
Select item 2672704	NM_003620.4(PPM1D):c.672A>G (p.Glu224=)	LOC129390907, PPM1D	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 871467	NM_003620.4(PPM1D):c.1270_1274dup (p.Asp425fs)	PPM1D (D425fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3067690	NM_003620.4(PPM1D):c.1275del (p.Pro426fs)	PPM1D (P426fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 871468	NM_003620.4(PPM1D):c.1275_1281del (p.Pro426fs)	PPM1D (P426fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2647992	NM_003620.4(PPM1D):c.1444C>T (p.Leu482=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 871469	NM_003620.4(PPM1D):c.1451dup (p.Leu484fs)	PPM1D (L484fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 695318	NM_003620.4(PPM1D):c.1501A>G (p.Thr501Ala)	PPM1D (T501A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2647993	NM_003620.4(PPM1D):c.1632C>G (p.Gly544=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647994	NM_003620.4(PPM1D):c.1806_1809del (p.Cys603fs)	PPM1D (C603fs)	Deletion (frameshift variant)	not provided	GUncertain significance