9314[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 151531	GRCh38/hg38 4q24(chr4:100579010-101522050)x1	FLJ20021, LINC01216 +19 more	Copy number loss	See cases	GUncertain significance
Select item 1247668	NM_000944.5(PPP3CA):c.*74A>G	PPP3CA	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1289310	NM_000944.5(PPP3CA):c.*44del	PPP3CA	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1273530	NM_000944.5(PPP3CA):c.43_44del	PPP3CA	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1229591	NM_000944.5(PPP3CA):c.42_44del	PPP3CA	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 3044125	NM_000944.5(PPP3CA):c.*8C>T	PPP3CA	Single nucleotide variant (3 prime UTR variant)	PPP3CA-related disorder	GBenign
Select item 1695101	NM_000944.5(PPP3CA):c.*7C>A	PPP3CA	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1969103	NM_000944.5(PPP3CA):c.1563G>A (p.Gln521=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719561	NM_000944.5(PPP3CA):c.1560T>G (p.Ile520Met)	PPP3CA (I468M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356943	NM_000944.5(PPP3CA):c.1559T>G (p.Ile520Ser)	PPP3CA (I520S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505852	NM_000944.5(PPP3CA):c.1550GCA[1] (p.Ser518del)	PPP3CA (S466del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2957230	NM_000944.5(PPP3CA):c.1551C>T (p.Ser517=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343178	NM_000944.5(PPP3CA):c.1544G>A (p.Ser515Asn)	PPP3CA (S463N +2 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2108966	NM_000944.5(PPP3CA):c.1532_1540dup (p.Asn513_Gly514insAspSerAsn)	PPP3CA	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3009889	NM_000944.5(PPP3CA):c.1539T>C (p.Asn513=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430076	NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs)	PPP3CA (N461fs +2 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely benign
Select item 1474325	NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser)	PPP3CA (N513S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1597483	NM_000944.5(PPP3CA):c.1530G>A (p.Thr510=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445200	NM_000944.5(PPP3CA):c.1529C>T (p.Thr510Met)	PPP3CA (T458M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124292	NM_000944.5(PPP3CA):c.1528A>T (p.Thr510Ser)	PPP3CA (T510S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122658	NM_000944.5(PPP3CA):c.1527C>T (p.Gly509=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2187889	NM_000944.5(PPP3CA):c.1525G>A (p.Gly509Ser)	PPP3CA (G457S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1619007	NM_000944.5(PPP3CA):c.1524C>T (p.Asn508=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664226	NM_000944.5(PPP3CA):c.1513T>C (p.Ser505Pro)	PPP3CA (S453P +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1	GUncertain significance
Select item 1904922	NM_000944.5(PPP3CA):c.1509C>T (p.Leu503=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871644	NM_000944.5(PPP3CA):c.1496_1498dup (p.Ile499_Asn500insIle)	PPP3CA	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1969514	NM_000944.5(PPP3CA):c.1497C>T (p.Ile499=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424286	NM_000944.5(PPP3CA):c.1492T>A (p.Ser498Thr)	PPP3CA (S446T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577329	NM_000944.5(PPP3CA):c.1491C>A (p.Asn497Lys)	PPP3CA (N445K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1909643	NM_000944.5(PPP3CA):c.1490A>T (p.Asn497Ile)	PPP3CA (N487I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431372	NM_000944.5(PPP3CA):c.1489A>T (p.Asn497Tyr)	PPP3CA (N497Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908507	NM_000944.5(PPP3CA):c.1484A>G (p.Asn495Ser)	PPP3CA (N485S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796637	NM_000944.5(PPP3CA):c.1480G>A (p.Ala494Thr)	PPP3CA (A442T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487615	NM_000944.5(PPP3CA):c.1480G>T (p.Ala494Ser)	PPP3CA (A442S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580084	NM_000944.5(PPP3CA):c.1479C>T (p.Asp493=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 812184	NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn)	PPP3CA (D493N +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1	GLikely pathogenic
Select item 2914488	NM_000944.5(PPP3CA):c.1473C>T (p.Pro491=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620145	NM_000944.5(PPP3CA):c.1473C>G (p.Pro491=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726809	NM_000944.5(PPP3CA):c.1469T>C (p.Met490Thr)	PPP3CA (M438T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579990	NM_000944.5(PPP3CA):c.1457G>A (p.Arg486His)	PPP3CA (R434H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1604375	NM_000944.5(PPP3CA):c.1452G>A (p.Pro484=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2435233	NM_000944.5(PPP3CA):c.1445_1447dup (p.Arg482_Met483insArg)	PPP3CA	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1494884	NM_000944.5(PPP3CA):c.1433G>A (p.Arg478Gln)	PPP3CA (R468Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1617376	NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=)	PPP3CA	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GLikely benign
Select item 1705717	NM_000944.5(PPP3CA):c.1427T>C (p.Leu476Ser)	PPP3CA (L424S +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	GUncertain significance
Select item 1556733	NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=)	PPP3CA	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GBenign/Likely benign
Select item 2430447	NM_000944.5(PPP3CA):c.1421A>C (p.Lys474Thr)	PPP3CA (K422T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064703	NM_000944.5(PPP3CA):c.1417G>T (p.Ala473Ser)	PPP3CA (A421S +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	GPathogenic
Select item 599241	NM_000944.5(PPP3CA):c.1417G>A (p.Ala473Thr)	PPP3CA (A473T +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2991902	NM_000944.5(PPP3CA):c.1416A>G (p.Glu472=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504468	NM_000944.5(PPP3CA):c.1411G>A (p.Glu471Lys)	PPP3CA (E419K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265570	NM_000944.5(PPP3CA):c.1410C>G (p.Phe470Leu)	PPP3CA (F418L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1546251	NM_000944.5(PPP3CA):c.1410C>T (p.Phe470=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 599240	NM_000944.5(PPP3CA):c.1408T>C (p.Phe470Leu)	PPP3CA (F470L +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	GPathogenic
Select item 2053251	NM_000944.5(PPP3CA):c.1397A>C (p.Lys466Thr)	PPP3CA (K466T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817143	NM_000944.5(PPP3CA):c.1394del (p.His465fs)	PPP3CA (H413fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1649507	NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2762614	NM_000944.5(PPP3CA):c.1388C>G (p.Pro463Arg)	PPP3CA (P411R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711413	NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1703148	NM_000944.5(PPP3CA):c.1370-8C>G	PPP3CA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1655274	NM_000944.5(PPP3CA):c.1370-8C>T	PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955928	NM_000944.5(PPP3CA):c.1369+18C>G	PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121640	NM_000944.5(PPP3CA):c.1369+17C>T	PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639552	NM_000944.5(PPP3CA):c.1369+15C>A	PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540032	NM_000944.5(PPP3CA):c.1369+13G>C	PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800018	NM_000944.5(PPP3CA):c.1369+9G>C	PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080234	NM_000944.5(PPP3CA):c.1366G>A (p.Glu456Lys)	PPP3CA (E456K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690939	NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter)	PPP3CA (E456*)	Single nucleotide variant (nonsense +1 more)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 2143493	NM_000944.5(PPP3CA):c.1365T>C (p.Asp455=)	PPP3CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795635	NM_000944.5(PPP3CA):c.1362T>C (p.Ala454=)	PPP3CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2735440	NM_000944.5(PPP3CA):c.1360G>T (p.Ala454Ser)	PPP3CA (A454S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1451016	NM_000944.5(PPP3CA):c.1354A>G (p.Ile452Val)	PPP3CA (I452V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2725580	NM_000944.5(PPP3CA):c.1353T>C (p.Ala451=)	PPP3CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1722228	NM_000944.5(PPP3CA):c.1352C>T (p.Ala451Val)	PPP3CA (A451V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2809778	NM_000944.5(PPP3CA):c.1350G>A (p.Glu450=)	PPP3CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2584523	NM_000944.5(PPP3CA):c.1341_1344del (p.Thr448fs)	PPP3CA (T448fs)	Deletion (frameshift variant +1 more)	PPP3CA-related disorder	GLikely pathogenic
Select item 2819282	NM_000944.5(PPP3CA):c.1340-1G>C	PPP3CA	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 488712	NM_000944.5(PPP3CA):c.1340-2A>G	PPP3CA	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1636778	NM_000944.5(PPP3CA):c.1340-15C>T	PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822649	NM_000944.5(PPP3CA):c.1340-20A>G	PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235479	NM_000944.5(PPP3CA):c.1340-178_1340-159del	PPP3CA	Deletion (intron variant)	not provided	GBenign
Select item 1229058	NM_000944.5(PPP3CA):c.1340-184T>G	PPP3CA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243916	NM_000944.5(PPP3CA):c.1339+102G>A	LOC123477793, PPP3CA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2838246	NM_000944.5(PPP3CA):c.1339+19A>G	LOC123477793, PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009038	NM_000944.5(PPP3CA):c.1339+16G>A	LOC123477793, PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599287	NM_000944.5(PPP3CA):c.1339+13_1339+15dup	LOC123477793, PPP3CA	Duplication (intron variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +2 more	GBenign/Likely benign
Select item 1424331	NM_000944.5(PPP3CA):c.1339+10C>T	LOC123477793, PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 441273	NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr)	PPP3CA (A447T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1583836	NM_000944.5(PPP3CA):c.1338C>T (p.Ser446=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 441271	NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter)	PPP3CA (Q445* +1 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 802080	NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs)	PPP3CA (S438fs +1 more)	Deletion (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 2694265	NM_000944.5(PPP3CA):c.1314T>C (p.Ser438=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236340	NM_000944.5(PPP3CA):c.1308_1312dup (p.Ser438fs)	PPP3CA (S396fs +1 more)	Duplication (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 522802	NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)	PPP3CA (S438fs +1 more)	Duplication (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 2887959	NM_000944.5(PPP3CA):c.1311T>C (p.Leu437=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821125	NM_000944.5(PPP3CA):c.1302C>A (p.Ser434Arg)	PPP3CA (S434R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1458785	NM_000944.5(PPP3CA):c.1302C>T (p.Ser434=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1721706	NM_000944.5(PPP3CA):c.1301G>C (p.Ser434Thr)	PPP3CA (S392T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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