ClinVar for MedGen (Select 1720440) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382842	NM_002480.3(PPP1R12A):c.1550+2T>C	PPP1R12A	Single nucleotide variant (splice donor variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 3251280	NM_002480.3(PPP1R12A):c.329T>A (p.Leu110Gln)	PPP1R12A (L110Q +1 more)	Single nucleotide variant (missense variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 3235968	NM_002480.3(PPP1R12A):c.647+2T>G	PPP1R12A	Single nucleotide variant (splice donor variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 3062288	NM_002480.3(PPP1R12A):c.508C>T (p.Arg170Ter)	PPP1R12A (R170* +1 more)	Single nucleotide variant (nonsense)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 2632919	NM_002480.3(PPP1R12A):c.2533C>T (p.Arg845Ter)	PPP1R12A (R758* +2 more)	Single nucleotide variant (nonsense)	PPP1R12A-related disorder	GPathogenic
Select item 2584465	NM_002480.3(PPP1R12A):c.2852del (p.His951fs)	PPP1R12A (H864fs +2 more)	Deletion (frameshift variant +1 more)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 2578545	NM_002480.3(PPP1R12A):c.768_769del (p.Cys256_Asp257delinsTer)	PPP1R12A	Microsatellite (nonsense)	Genitourinary and/or brain malformation syndrome	GUncertain significance
Select item 2502874	NM_002480.3(PPP1R12A):c.2604del (p.Glu868fs)	PPP1R12A (E781fs +2 more)	Deletion (frameshift variant)	Genitourinary and/or brain malformation syndrome	GPathogenic
Select item 2442229	NM_002480.3(PPP1R12A):c.127del (p.Val43fs)	LOC112163633, PPP1R12A (V43fs)	Deletion (frameshift variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 1805823	NM_002480.3(PPP1R12A):c.2166A>T (p.Gln722His)	PPP1R12A (Q635H +2 more)	Single nucleotide variant (missense variant)	Genitourinary and/or brain malformation syndrome	GUncertain significance
Select item 1805049	NM_002480.3(PPP1R12A):c.731AAG[2] (p.Glu246del)	PPP1R12A (E159del +1 more)	Microsatellite (inframe_deletion)	Genitourinary and/or brain malformation syndrome	GUncertain significance
Select item 1679367	NM_002480.3(PPP1R12A):c.2801del (p.Lys934fs)	PPP1R12A (K847fs +2 more)	Deletion (frameshift variant)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 1334539	NM_002480.3(PPP1R12A):c.1567C>T (p.Arg523Ter)	PPP1R12A (R436* +1 more)	Single nucleotide variant (nonsense)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 1327439	NM_002480.3(PPP1R12A):c.2373G>C (p.Leu791=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1174499	NM_002480.3(PPP1R12A):c.2187del (p.Glu730fs)	PPP1R12A (E643fs +2 more)	Deletion (frameshift variant)	Genitourinary and/or brain malformation syndrome	GPathogenic
Select item 989299	NM_002480.3(PPP1R12A):c.2789C>G (p.Thr930Ser)	PPP1R12A (T843S +2 more)	Single nucleotide variant (missense variant)	Genitourinary and/or brain malformation syndrome	GUncertain significance
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 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 976721	NM_002480.3(PPP1R12A):c.2698C>T (p.Arg900Ter)	PPP1R12A (R813* +2 more)	Single nucleotide variant (nonsense)	Genitourinary and/or brain malformation syndrome +1 more	GPathogenic
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
Select item 827964	NM_002480.3(PPP1R12A):c.2033_2034del (p.Glu677_Ser678insTer)	PPP1R12A	Deletion (nonsense)	Genitourinary and/or brain malformation syndrome	GPathogenic
Select item 827963	NM_002480.3(PPP1R12A):c.1189del (p.Thr397fs)	PPP1R12A (T310fs +1 more)	Deletion (frameshift variant)	Genitourinary and/or brain malformation syndrome	GPathogenic
Select item 827962	NM_002480.3(PPP1R12A):c.1510C>T (p.Arg504Ter)	PPP1R12A (R504* +1 more)	Single nucleotide variant (nonsense)	Genitourinary and/or brain malformation syndrome	GPathogenic

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Items: 23