ClinVar for Gene (Select 4659) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368332	NM_002480.3(PPP1R12A):c.647+5G>A	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3361752	NM_002480.3(PPP1R12A):c.787A>G (p.Lys263Glu)	PPP1R12A (K176E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351228	NM_002480.3(PPP1R12A):c.2586T>C (p.Ser862=)	PPP1R12A	Single nucleotide variant (synonymous variant)	PPP1R12A-related disorder	GLikely benign
Select item 3351020	NM_002480.3(PPP1R12A):c.2701T>C (p.Tyr901His)	PPP1R12A (Y814H +2 more)	Single nucleotide variant (missense variant)	PPP1R12A-related disorder	GLikely benign
Select item 3350080	NM_002480.3(PPP1R12A):c.2307T>A (p.Tyr769Ter)	PPP1R12A (Y682* +2 more)	Single nucleotide variant (nonsense)	PPP1R12A-related disorder	GLikely pathogenic
Select item 3345944	NM_002480.3(PPP1R12A):c.957-1G>A	PPP1R12A	Single nucleotide variant (splice acceptor variant)	PPP1R12A-related disorder	GLikely pathogenic
Select item 3345655	NM_002480.3(PPP1R12A):c.1089T>A (p.Asp363Glu)	PPP1R12A (D276E +1 more)	Single nucleotide variant (missense variant)	PPP1R12A-related disorder	GUncertain significance
Select item 3343298	NM_002480.3(PPP1R12A):c.526A>G (p.Ile176Val)	PPP1R12A (I176V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309314	NM_002480.3(PPP1R12A):c.1151A>G (p.Asn384Ser)	PPP1R12A (N297S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3244364	NC_000012.11:g.(?_80114165)_(80221528_?)dup	PPP1R12A	Duplication	not provided	GLikely benign
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 3217408	NM_002480.3(PPP1R12A):c.583C>A (p.His195Asn)	PPP1R12A (H108N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217407	NM_002480.3(PPP1R12A):c.322A>C (p.Ile108Leu)	PPP1R12A (I108L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217406	NM_002480.3(PPP1R12A):c.2537C>G (p.Pro846Arg)	PPP1R12A (P759R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217405	NM_002480.3(PPP1R12A):c.2271G>C (p.Lys757Asn)	PPP1R12A (K670N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217403	NM_002480.3(PPP1R12A):c.1366A>G (p.Lys456Glu)	PPP1R12A (K369E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
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 3052896	NM_002480.3(PPP1R12A):c.2151C>T (p.Thr717=)	PPP1R12A	Single nucleotide variant (synonymous variant)	PPP1R12A-related disorder	GLikely benign
Select item 3046230	NM_002480.3(PPP1R12A):c.723T>C (p.His241=)	PPP1R12A	Single nucleotide variant (synonymous variant)	PPP1R12A-related disorder	GLikely benign
Select item 3042334	NM_002480.3(PPP1R12A):c.2629del (p.Ser877fs)	PPP1R12A (S790fs +2 more)	Deletion (frameshift variant)	PPP1R12A-related disorder	GPathogenic
Select item 3017791	NM_002480.3(PPP1R12A):c.393T>C (p.His131=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2972520	NM_002480.3(PPP1R12A):c.525G>A (p.Arg175=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2960522	NM_002480.3(PPP1R12A):c.998G>A (p.Arg333His)	PPP1R12A (R333H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919738	NM_002480.3(PPP1R12A):c.2483A>C (p.Glu828Ala)	PPP1R12A (E772A +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2918451	NM_002480.3(PPP1R12A):c.2000+10G>A	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915902	NM_002480.3(PPP1R12A):c.2187A>T (p.Lys729Asn)	PPP1R12A (K729N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910835	NM_002480.3(PPP1R12A):c.837T>C (p.Tyr279=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901327	NM_002480.3(PPP1R12A):c.792+7G>A	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895254	NM_002480.3(PPP1R12A):c.2474G>A (p.Arg825Lys)	PPP1R12A (R769K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895008	NM_002480.3(PPP1R12A):c.1504C>T (p.Pro502Ser)	PPP1R12A (P415S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889213	NM_002480.3(PPP1R12A):c.2619A>G (p.Thr873=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880327	NM_002480.3(PPP1R12A):c.647+16dup	PPP1R12A	Duplication (intron variant)	not provided	GBenign
Select item 2879722	NM_002480.3(PPP1R12A):c.2520C>T (p.Ile840=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878891	NM_002480.3(PPP1R12A):c.957-16T>C	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2874825	NM_002480.3(PPP1R12A):c.2302C>A (p.Arg768Ser)	PPP1R12A (R768S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874795	NM_002480.3(PPP1R12A):c.2307T>C (p.Tyr769=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2874030	NM_002480.3(PPP1R12A):c.2908-5T>C	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2873645	NM_002480.3(PPP1R12A):c.2475AGA[1] (p.Glu828del)	PPP1R12A (E741del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2869582	NM_002480.3(PPP1R12A):c.1095G>A (p.Ser365=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2869392	NM_002480.3(PPP1R12A):c.1371G>C (p.Glu457Asp)	PPP1R12A (E370D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868331	NM_002480.3(PPP1R12A):c.1980A>G (p.Thr660=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2868256	NM_002480.3(PPP1R12A):c.2802+16A>G	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2860670	NM_002480.3(PPP1R12A):c.1278A>C (p.Glu426Asp)	PPP1R12A (E339D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2852521	NM_002480.3(PPP1R12A):c.581G>C (p.Arg194Pro)	PPP1R12A (R194P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2842233	NM_002480.3(PPP1R12A):c.1406G>A (p.Arg469His)	PPP1R12A (R382H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841901	NM_002480.3(PPP1R12A):c.1451A>G (p.Glu484Gly)	PPP1R12A (E397G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837996	NM_002480.3(PPP1R12A):c.95A>C (p.Gln32Pro)	LOC112163633, PPP1R12A (Q32P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799120	NM_002480.3(PPP1R12A):c.2408T>C (p.Leu803Pro)	PPP1R12A (L803P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777312	NM_002480.3(PPP1R12A):c.1755C>T (p.Ser585=)	PPP1R12A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776683	NM_002480.3(PPP1R12A):c.1105G>A (p.Ala369Thr)	PPP1R12A (A282T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772137	NM_002480.3(PPP1R12A):c.1031AAG[2] (p.Glu346_Glu347del)	PPP1R12A	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2758921	NM_002480.3(PPP1R12A):c.1568G>A (p.Arg523Gln)	PPP1R12A (R436Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2757559	NM_002480.3(PPP1R12A):c.2912A>G (p.Gln971Arg)	PPP1R12A (Q915R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722797	NM_002480.3(PPP1R12A):c.2153G>A (p.Arg718Gln)	PPP1R12A (R662Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717378	NM_002480.3(PPP1R12A):c.391C>T (p.His131Tyr)	PPP1R12A (H131Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715817	NM_002480.3(PPP1R12A):c.1050G>A (p.Lys350=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2715495	NM_002480.3(PPP1R12A):c.635C>T (p.Thr212Met)	PPP1R12A (T125M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715459	NM_002480.3(PPP1R12A):c.1823+2T>C	PPP1R12A	Single nucleotide variant (intron variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2704323	NM_002480.3(PPP1R12A):c.1219C>A (p.Pro407Thr)	PPP1R12A (P320T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2702093	NM_002480.3(PPP1R12A):c.1763C>A (p.Ser588Tyr)	PPP1R12A (S501Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2693785	NM_002480.3(PPP1R12A):c.254A>G (p.Asn85Ser)	PPP1R12A (N85S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643190	NC_000012.12:g.79935553A>C	LOC112163633, PPP1R12A +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2643189	NM_002480.3(PPP1R12A):c.2509C>T (p.Pro837Ser)	PPP1R12A (P750S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643188	NM_002480.3(PPP1R12A):c.2956-749G>A	PPP1R12A, PPP1R12A-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2637226	NM_002480.3(PPP1R12A):c.3092A>T (p.Ter1031Leu)	PPP1R12A, PPP1R12A-AS2	Single nucleotide variant (stop lost)	PPP1R12A-related disorder	GUncertain significance
Select item 2636523	NM_002480.3(PPP1R12A):c.1010T>C (p.Leu337Pro)	PPP1R12A (L250P +1 more)	Single nucleotide variant (missense variant)	PPP1R12A-related disorder	GUncertain significance
Select item 2633322	NM_002480.3(PPP1R12A):c.220C>G (p.Leu74Val)	LOC112163633, PPP1R12A (L74V)	Single nucleotide variant (missense variant)	PPP1R12A-related disorder	GUncertain significance
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 2621723	NM_002480.3(PPP1R12A):c.1853G>A (p.Ser618Asn)	PPP1R12A (S531N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601825	NM_002480.3(PPP1R12A):c.1723A>G (p.Thr575Ala)	PPP1R12A (T488A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591255	NM_002480.3(PPP1R12A):c.888C>A (p.Asp296Glu)	PPP1R12A (D296E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2580578	NM_002480.3(PPP1R12A):c.1009C>G (p.Leu337Val)	PPP1R12A (L250V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2574269	NM_002480.3(PPP1R12A):c.1681G>A (p.Asp561Asn)	PPP1R12A (D474N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2550581	NM_002480.3(PPP1R12A):c.2438G>A (p.Gly813Glu)	PPP1R12A (G726E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540686	NM_002480.3(PPP1R12A):c.2861A>G (p.Asn954Ser)	PPP1R12A (N867S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2524365	NM_002480.3(PPP1R12A):c.176T>A (p.Leu59Gln)	LOC112163633, PPP1R12A (L59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2498575	GRCh37/hg19 12q21.2(chr12:80187643-80222244)x1	PPP1R12A	Copy number loss	not provided	GLikely pathogenic
Select item 2498564	NM_002480.3(PPP1R12A):c.481C>T (p.Arg161Trp)	PPP1R12A (R161W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2478598	NM_002480.3(PPP1R12A):c.1373G>T (p.Gly458Val)	PPP1R12A (G458V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477072	NM_002480.3(PPP1R12A):c.1831A>G (p.Asn611Asp)	PPP1R12A (N524D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467355	NM_002480.3(PPP1R12A):c.581G>A (p.Arg194Gln)	PPP1R12A (R107Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2424025	NC_000012.11:g.(?_80169709)_(80215990_?)dup	PPP1R12A	Duplication	not provided	GLikely benign
Select item 2424024	NC_000012.11:g.(?_80239062)_(80328711_?)del	PPP1R12A	Deletion	not provided	GPathogenic
Select item 2416729	NM_002480.3(PPP1R12A):c.793-5C>T	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414575	NM_002480.3(PPP1R12A):c.2293-3C>T	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2383338	NM_002480.3(PPP1R12A):c.1702C>G (p.Pro568Ala)	PPP1R12A (P568A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379649	NM_002480.3(PPP1R12A):c.1514T>C (p.Leu505Pro)	PPP1R12A (L505P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364930	NM_002480.3(PPP1R12A):c.2441T>C (p.Ile814Thr)	PPP1R12A (I727T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2340742	NM_002480.3(PPP1R12A):c.719C>T (p.Ala240Val)	PPP1R12A (A240V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331549	NM_002480.3(PPP1R12A):c.2508A>T (p.Gln836His)	PPP1R12A (Q749H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305406	NM_002480.3(PPP1R12A):c.2843C>G (p.Ala948Gly)	PPP1R12A (A892G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290363	NM_002480.3(PPP1R12A):c.1650T>G (p.His550Gln)	PPP1R12A (H463Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286602	NM_002480.3(PPP1R12A):c.2249G>C (p.Arg750Thr)	PPP1R12A (R694T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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