29298[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 16467	NC_000015.9:g.48793164_49095744del	LOC130057021, LOC130057022 +10 more	Deletion	Marfan syndrome	GPathogenic
Select item 2645316	NC_000015.10:g.48717160G>T	CEP152	Single nucleotide variant	not provided	GLikely benign
Select item 2846165	NM_001194998.2(CEP152):c.4698_*295del (p.Asp1567fs)	CEP152 (D1567fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 316402	NM_001194998.2(CEP152):c.*255T>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 316403	NM_001194998.2(CEP152):c.*231C>T	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome +2 more	GUncertain significance
Select item 316404	NM_001194998.2(CEP152):c.*194G>A	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 5 +2 more	GBenign/Likely benign
Select item 316405	NM_001194998.2(CEP152):c.*170T>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 316406	NM_001194998.2(CEP152):c.*73A>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 886821	NM_001194998.2(CEP152):c.*51G>A	CEP152	Single nucleotide variant (3 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 886822	NM_001194998.2(CEP152):c.*33A>G	CEP152	Single nucleotide variant (3 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 888097	NM_001194998.2(CEP152):c.*7T>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 158222	NM_001194998.2(CEP152):c.*5G>A	CEP152	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 632239	NM_001194998.2(CEP152):c.5131T>A (p.Ter1711Lys)	CEP152	Single nucleotide variant (stop lost)	CEP152-related disorder	GUncertain significance
Select item 1337212	NM_001194998.2(CEP152):c.5128G>A (p.Asp1710Asn)	CEP152 (D1654N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2793110	NM_001194998.2(CEP152):c.5125C>T (p.Leu1709=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158272	NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 2822062	NM_001194998.2(CEP152):c.5112C>T (p.Ser1704=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158271	NM_001194998.2(CEP152):c.5107G>T (p.Asp1703Tyr)	CEP152 (D1647Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive	GUncertain significance
Select item 2867873	NM_001194998.2(CEP152):c.5103C>T (p.Gly1701=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977200	NM_001194998.2(CEP152):c.5094A>G (p.Gln1698=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336945	NM_001194998.2(CEP152):c.5087G>A (p.Ser1696Asn)	CEP152 (S1640N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2694004	NM_001194998.2(CEP152):c.5082A>G (p.Leu1694=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744283	NM_001194998.2(CEP152):c.5079G>A (p.Pro1693=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 158270	NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu)	CEP152 (P1637L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2057941	NM_001194998.2(CEP152):c.5077C>T (p.Pro1693Ser)	CEP152 (P1693S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977842	NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)	CEP152 (I1635fs +1 more)	Microsatellite (frameshift variant)	Microcephaly 9, primary, autosomal recessive	GPathogenic
Select item 2835767	NM_001194998.2(CEP152):c.5061A>C (p.Ser1687=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855837	NM_001194998.2(CEP152):c.5055G>A (p.Gln1685=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831093	NM_001194998.2(CEP152):c.5040_5050del (p.Ser1681fs)	CEP152 (S1625fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2979680	NM_001194998.2(CEP152):c.5031A>C (p.Thr1677=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716169	NM_001194998.2(CEP152):c.5025C>T (p.Ser1675=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992945	NM_001194998.2(CEP152):c.5019dup (p.Leu1674fs)	CEP152 (L1674fs +1 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 2760961	NM_001194998.2(CEP152):c.5018_5019dup (p.Leu1674fs)	CEP152 (L1674fs +1 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3001068	NM_001194998.2(CEP152):c.5019A>G (p.Lys1673=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813331	NM_001194998.2(CEP152):c.5012del (p.Phe1671fs)	CEP152 (F1615fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 316407	NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His)	CEP152 (D1670H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 1964435	NM_001194998.2(CEP152):c.4999T>C (p.Leu1667=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019867	NM_001194998.2(CEP152):c.4986T>C (p.His1662=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 316408	NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg)	CEP152 (H1662R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 1525560	NM_001194998.2(CEP152):c.4982G>A (p.Arg1661His)	CEP152 (R1605H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418168	NM_001194998.2(CEP152):c.4958G>T (p.Ser1653Ile)	CEP152 (S1597I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758796	NM_001194998.2(CEP152):c.4944G>A (p.Glu1648=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871463	NM_001194998.2(CEP152):c.4939T>C (p.Leu1647=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785575	NM_001194998.2(CEP152):c.4938T>G (p.Tyr1646Ter)	CEP152 (Y1590* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 420239	NM_001194998.2(CEP152):c.4937A>G (p.Tyr1646Cys)	CEP152 (Y1590C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963762	NM_001194998.2(CEP152):c.4935G>A (p.Thr1645=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 884968	NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met)	CEP152 (T1589M +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 158269	NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2852456	NM_001194998.2(CEP152):c.4911T>G (p.Thr1637=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420758	NM_001194998.2(CEP152):c.4901G>A (p.Arg1634His)	CEP152 (R1578H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158268	NM_001194998.2(CEP152):c.4900C>T (p.Arg1634Cys)	CEP152 (R1578C +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive	GUncertain significance
Select item 1963403	NM_001194998.2(CEP152):c.4895G>A (p.Cys1632Tyr)	CEP152 (C1632Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361817	NM_001194998.2(CEP152):c.4894T>C (p.Cys1632Arg)	CEP152 (C1576R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003886	NM_001194998.2(CEP152):c.4884A>G (p.Gln1628=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706222	NM_001194998.2(CEP152):c.4882C>G (p.Gln1628Glu)	CEP152 (Q1572E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884969	NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 1449032	NM_001194998.2(CEP152):c.4859C>T (p.Thr1620Ile)	CEP152 (T1564I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158267	NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +3 more	GBenign/Likely benign
Select item 2175538	NM_001194998.2(CEP152):c.4855G>C (p.Asp1619His)	CEP152 (D1563H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351828	NM_001194998.2(CEP152):c.4853C>T (p.Ser1618Leu)	CEP152 (S1562L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966973	NM_001194998.2(CEP152):c.4842C>T (p.Ser1614=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760458	NM_001194998.2(CEP152):c.4836A>C (p.Ser1612=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983354	NM_001194998.2(CEP152):c.4830G>A (p.Gln1610=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902521	NM_001194998.2(CEP152):c.4812A>G (p.Glu1604=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409214	NM_001194998.2(CEP152):c.4807A>C (p.Ser1603Arg)	CEP152 (S1603R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845255	NM_001194998.2(CEP152):c.4795T>C (p.Leu1599=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831292	NM_001194998.2(CEP152):c.4785A>G (p.Pro1595=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712165	NM_001194998.2(CEP152):c.4784C>T (p.Pro1595Leu)	CEP152 (P1539L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2041258	NM_001194998.2(CEP152):c.4761_4777del (p.Glu1587_Ala1588insTer)	CEP152	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2879826	NM_001194998.2(CEP152):c.4776T>C (p.His1592=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464308	NM_001194998.2(CEP152):c.4775A>G (p.His1592Arg)	CEP152 (H1536R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820221	NM_001194998.2(CEP152):c.4764A>G (p.Ala1588=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833871	NM_001194998.2(CEP152):c.4761A>G (p.Glu1587=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 384842	NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro)	CEP152 (R1530P +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2791771	NM_001194998.2(CEP152):c.4752C>T (p.Asp1584=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158266	NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro)	CEP152 (S1526P +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 885879	NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala)	CEP152 (T1524A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2709393	NM_001194998.2(CEP152):c.4737A>C (p.Ala1579=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991408	NM_001194998.2(CEP152):c.4728C>G (p.Ser1576=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763058	NM_001194998.2(CEP152):c.4728C>T (p.Ser1576=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834188	NM_001194998.2(CEP152):c.4721G>A (p.Trp1574Ter)	CEP152 (W1518* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2857218	NM_001194998.2(CEP152):c.4714T>C (p.Leu1572=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940873	NM_001194998.2(CEP152):c.4702C>T (p.Leu1568Phe)	CEP152 (L1512F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434735	NM_001194998.2(CEP152):c.4702C>A (p.Leu1568Ile)	CEP152 (L1512I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2976126	NM_001194998.2(CEP152):c.4698G>A (p.Gly1566=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948009	NM_001194998.2(CEP152):c.4691A>G (p.Asp1564Gly)	CEP152 (D1508G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074910	NM_001194998.2(CEP152):c.4686A>C (p.Val1562=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522976	NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile)	CEP152 (V1562I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 2060221	NM_001194998.2(CEP152):c.4683A>G (p.Pro1561=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959194	NM_001194998.2(CEP152):c.4680T>G (p.Pro1560=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839819	NM_001194998.2(CEP152):c.4644A>G (p.Ala1548=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010265	NM_001194998.2(CEP152):c.4641T>G (p.Ala1547=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830994	NM_001194998.2(CEP152):c.4638T>C (p.Asn1546=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021691	NM_001194998.2(CEP152):c.4632T>C (p.Ser1544=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158265	NM_001194998.2(CEP152):c.4625T>A (p.Met1542Lys)	CEP152 (M1486K +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive	GUncertain significance
Select item 2722802	NM_001194998.2(CEP152):c.4621C>T (p.Leu1541=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873215	NM_001194998.2(CEP152):c.4620A>G (p.Pro1540=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 886872	NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser)	CEP152 (N1539S +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +2 more	GUncertain significance
Select item 2824076	NM_001194998.2(CEP152):c.4614C>T (p.Cys1538=)	CEP152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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