"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PPP1R21 - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2171576	NM_001135629.3(PPP1R21):c.310C>T (p.Gln104Ter)	PPP1R21 (Q104*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 844226	NM_001135629.3(PPP1R21):c.541-2A>G	PPP1R21	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 778259	NM_001135629.3(PPP1R21):c.600-4G>T	PPP1R21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2053317	NM_001135629.3(PPP1R21):c.787G>T (p.Val263Phe)	PPP1R21 (V263F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 715561	NM_001135629.3(PPP1R21):c.1204A>G (p.Ile402Val)	PPP1R21 (I402V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 723818	NM_001135629.3(PPP1R21):c.1499A>G (p.Tyr500Cys)	PPP1R21 (Y500C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 719964	NM_001135629.3(PPP1R21):c.1679G>T (p.Gly560Val)	PPP1R21 (G560V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1990521	NM_001135629.3(PPP1R21):c.1807A>G (p.Lys603Glu)	PPP1R21 (K572E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 737591	NM_001135629.3(PPP1R21):c.1917C>G (p.Pro639=)	PPP1R21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2149078	NM_001135629.3(PPP1R21):c.1981G>T (p.Glu661Ter)	PPP1R21 (E650* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1399732	NC_000002.11:g.(?_48018046)_(50170949_?)dup	FOXN2, GTF2A1L +8 more	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 1041513	NC_000002.11:g.(?_47672677)_(51259192_?)dup	FBXO11, FOXN2 +11 more	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance