ClinVar for MedGen (Select 1780615) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065908	NM_001135629.3(PPP1R21):c.2338C>T (p.Arg780Ter)	PPP1R21 (R738* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GUncertain significance
Select item 3065136	NM_001135629.3(PPP1R21):c.1448T>G (p.Ile483Ser)	PPP1R21 (I483S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely benign
Select item 2637432	NM_001135629.3(PPP1R21):c.1868C>G (p.Ser623Ter)	PPP1R21 (S592* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 2584981	NM_001135629.3(PPP1R21):c.763del (p.Ile255fs)	PPP1R21 (I255fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely pathogenic
Select item 2572420	NM_001135629.3(PPP1R21):c.126+2T>C	PPP1R21	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely pathogenic
Select item 1693297	NM_001135629.3(PPP1R21):c.1728G>T (p.Glu576Asp)	PPP1R21 (E545D +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GUncertain significance
Select item 1333266	NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer)	PPP1R21	Deletion (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely pathogenic
Select item 1174150	NM_001135629.3(PPP1R21):c.193C>T (p.Arg65Ter)	PPP1R21 (R65*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 1174149	NM_001135629.3(PPP1R21):c.1607dup (p.Leu536fs)	PPP1R21 (L536fs)	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 1174148	NM_001135629.3(PPP1R21):c.2170_2171insGGTA (p.Ile724fs)	PPP1R21 (I682fs +2 more)	Insertion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 1174147	NM_001135629.3(PPP1R21):c.347del (p.Ile116fs)	PPP1R21 (I116fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 1174146	NM_001135629.3(PPP1R21):c.87_88del (p.Gly30fs)	PPP1R21 (G30fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 1174145	NM_001135629.3(PPP1R21):c.427C>T (p.Arg143Ter)	PPP1R21 (R143*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 1174144	NM_001135629.3(PPP1R21):c.2089C>T (p.Arg697Ter)	PPP1R21 (R697* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic
Select item 870419	NM_001135629.3(PPP1R21):c.2063del (p.Lys688fs)	PPP1R21 (K646fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GPathogenic