C5394158[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977095	NM_002480.3(PPP1R12A):c.2677del (p.Ser893fs)	PPP1R12A (S806fs +2 more)	Deletion (frameshift variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 981533	NM_002480.3(PPP1R12A):c.2676del (p.Ser893fs)	PPP1R12A (S806fs +2 more)	Deletion (frameshift variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 973883	NM_002480.3(PPP1R12A):c.466C>T (p.Gln156Ter)	PPP1R12A (Q156* +1 more)	Single nucleotide variant (nonsense)	Genitourinary and/or brain malformation syndrome	GPathogenic

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