7618[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 149118	GRCh38/hg38 12q21.2-21.31(chr12:79555742-79970429)x1	LOC112163633, LOC130008328 +5 more	Copy number loss	See cases	GUncertain significance
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 1309399	NM_002480.3(PPP1R12A):c.3046G>A (p.Asp1016Asn)	PPP1R12A, PPP1R12A-AS2 (D1016N +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1521475	NM_002480.3(PPP1R12A):c.2930G>T (p.Arg977Ile)	PPP1R12A (R890I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2874030	NM_002480.3(PPP1R12A):c.2908-5T>C	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1613530	NM_002480.3(PPP1R12A):c.2908-12A>G	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 2868256	NM_002480.3(PPP1R12A):c.2802+16A>G	PPP1R12A	Single nucleotide variant (intron variant)	not provided	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 2267953	NM_002480.3(PPP1R12A):c.2795T>G (p.Phe932Cys)	PPP1R12A (F845C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1313658	NM_002480.3(PPP1R12A):c.2783A>T (p.Asp928Val)	PPP1R12A (D841V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176477	NM_002480.3(PPP1R12A):c.2769G>C (p.Arg923Ser)	PPP1R12A (R836S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2072404	NM_002480.3(PPP1R12A):c.2699G>A (p.Arg900Gln)	PPP1R12A (R813Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2194892	NM_002480.3(PPP1R12A):c.2651C>T (p.Thr884Met)	PPP1R12A (T828M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1974694	NM_002480.3(PPP1R12A):c.2638A>G (p.Lys880Glu)	PPP1R12A (K880E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042334	NM_002480.3(PPP1R12A):c.2629del (p.Ser877fs)	PPP1R12A (S790fs +2 more)	Deletion (frameshift variant)	PPP1R12A-related disorder	GPathogenic
Select item 2889213	NM_002480.3(PPP1R12A):c.2619A>G (p.Thr873=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2181633	NM_002480.3(PPP1R12A):c.2589T>C (p.Asp863=)	PPP1R12A	Single nucleotide variant (synonymous 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 1971101	NM_002480.3(PPP1R12A):c.2584-13A>C	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GBenign
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 2632919	NM_002480.3(PPP1R12A):c.2533C>T (p.Arg845Ter)	PPP1R12A (R758* +2 more)	Single nucleotide variant (nonsense)	PPP1R12A-related disorder	GPathogenic
Select item 2879722	NM_002480.3(PPP1R12A):c.2520C>T (p.Ile840=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1976376	NM_002480.3(PPP1R12A):c.2492_2494del (p.Gly831del)	PPP1R12A (G831del +2 more)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 708235	NM_002480.3(PPP1R12A):c.2484G>A (p.Glu828=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2873645	NM_002480.3(PPP1R12A):c.2475AGA[1] (p.Glu828del)	PPP1R12A (E741del +2 more)	Microsatellite (inframe_deletion)	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 2069857	NM_002480.3(PPP1R12A):c.2459G>A (p.Arg820Lys)	PPP1R12A (R733K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 1976082	NM_002480.3(PPP1R12A):c.2426C>T (p.Ala809Val)	PPP1R12A (A722V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107865	NM_002480.3(PPP1R12A):c.2423C>G (p.Ser808Cys)	PPP1R12A (S752C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156586	NM_002480.3(PPP1R12A):c.2411T>C (p.Val804Ala)	PPP1R12A (V804A +2 more)	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 1327439	NM_002480.3(PPP1R12A):c.2373G>C (p.Leu791=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2171859	NM_002480.3(PPP1R12A):c.2348C>T (p.Ser783Leu)	PPP1R12A (S696L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628971	NM_002480.3(PPP1R12A):c.2335A>G (p.Thr779Ala)	PPP1R12A (T692A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2874795	NM_002480.3(PPP1R12A):c.2307T>C (p.Tyr769=)	PPP1R12A	Single nucleotide variant (synonymous 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 2414575	NM_002480.3(PPP1R12A):c.2293-3C>T	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2101793	NM_002480.3(PPP1R12A):c.2292+6A>G	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2286602	NM_002480.3(PPP1R12A):c.2249G>C (p.Arg750Thr)	PPP1R12A (R694T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2081707	NM_002480.3(PPP1R12A):c.2208_2222del (p.Asp736_Gln740del)	PPP1R12A	Deletion (inframe_deletion)	not provided	GUncertain significance
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 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 2101287	NM_002480.3(PPP1R12A):c.2182G>C (p.Glu728Gln)	PPP1R12A (E728Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 1878944	NM_002480.3(PPP1R12A):c.2152C>T (p.Arg718Ter)	PPP1R12A (R631* +2 more)	Single nucleotide variant (nonsense)	not provided	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 827964	NM_002480.3(PPP1R12A):c.2033_2034del (p.Glu677_Ser678insTer)	PPP1R12A	Deletion (nonsense)	Genitourinary and/or brain malformation syndrome	GPathogenic
Select item 2918451	NM_002480.3(PPP1R12A):c.2000+10G>A	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868331	NM_002480.3(PPP1R12A):c.1980A>G (p.Thr660=)	PPP1R12A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2207448	NM_002480.3(PPP1R12A):c.1963A>C (p.Thr655Pro)	PPP1R12A (T599P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645477	NM_002480.3(PPP1R12A):c.1894A>G (p.Ile632Val)	PPP1R12A (I545V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2045507	NM_002480.3(PPP1R12A):c.1883C>T (p.Thr628Met)	PPP1R12A (T572M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 2005130	NM_002480.3(PPP1R12A):c.1824-6C>T	PPP1R12A	Single nucleotide variant (intron 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 1543406	NM_002480.3(PPP1R12A):c.1811G>C (p.Gly604Ala)	PPP1R12A (G517A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2068225	NM_002480.3(PPP1R12A):c.1793C>G (p.Thr598Arg)	PPP1R12A (T511R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2777312	NM_002480.3(PPP1R12A):c.1755C>T (p.Ser585=)	PPP1R12A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1624756	NM_002480.3(PPP1R12A):c.1661C>T (p.Ser554Phe)	PPP1R12A (S467F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2039310	NM_002480.3(PPP1R12A):c.1656-6G>A	PPP1R12A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2084169	NM_002480.3(PPP1R12A):c.1655+7_1655+9del	PPP1R12A	Microsatellite (splice donor variant)	not provided	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 2186623	NM_002480.3(PPP1R12A):c.1643C>T (p.Thr548Met)	PPP1R12A (T461M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 730043	NM_002480.3(PPP1R12A):c.1642A>G (p.Thr548Ala)	PPP1R12A (T548A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2212823	NM_002480.3(PPP1R12A):c.1620T>G (p.Asn540Lys)	PPP1R12A (N540K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2244704	NM_002480.3(PPP1R12A):c.1511G>A (p.Arg504Gln)	PPP1R12A (R504Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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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