CLPX[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 3040415	NM_006660.5(CLPX):c.*6C>T	CLPX	Single nucleotide variant (3 prime UTR variant +1 more)	CLPX-related condition	GLikely benign
Select item 3145992	NM_006660.5(CLPX):c.1891G>A (p.Ala631Thr)	CLPX (A631T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312797	NM_006660.5(CLPX):c.1868G>A (p.Gly623Glu)	CLPX (G623E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2965011	NM_006660.5(CLPX):c.1854A>T (p.Gly618=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2460558	NM_006660.5(CLPX):c.1841A>G (p.Glu614Gly)	CLPX (E614G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1917606	NM_006660.5(CLPX):c.1812-16T>C	CLPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004069	NM_006660.5(CLPX):c.1812-17A>G	CLPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917967	NM_006660.5(CLPX):c.1788A>G (p.Gly596=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2177718	NM_006660.5(CLPX):c.1763A>T (p.Glu588Val)	CLPX (E588V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3145991	NM_006660.5(CLPX):c.1747G>C (p.Asp583His)	CLPX (D583H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1599106	NM_006660.5(CLPX):c.1695G>T (p.Arg565=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2802678	NM_006660.5(CLPX):c.1652C>A (p.Ala551Asp)	CLPX (A551D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967833	NM_006660.5(CLPX):c.1615G>A (p.Glu539Lys)	CLPX (E539K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054617	NM_006660.5(CLPX):c.1612-8A>G	CLPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919954	NM_006660.5(CLPX):c.1611+19G>A	CLPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2266174	NM_006660.5(CLPX):c.1591G>A (p.Ala531Thr)	CLPX (A531T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3010364	NM_006660.5(CLPX):c.1587C>T (p.Tyr529=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2720599	NM_006660.5(CLPX):c.1485G>A (p.Glu495=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1640657	NM_006660.5(CLPX):c.1463T>C (p.Ile488Thr)	CLPX (I488T)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2254500	NM_006660.5(CLPX):c.1453A>G (p.Arg485Gly)	CLPX (R485G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1639395	NM_006660.5(CLPX):c.1443T>C (p.His481=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3145990	NM_006660.5(CLPX):c.1438C>T (p.Arg480Cys)	CLPX (R480C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1947757	NM_006660.5(CLPX):c.1430G>A (p.Arg477Gln)	CLPX (R477Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892609	NM_006660.5(CLPX):c.1429C>T (p.Arg477Trp)	CLPX (R477W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2838864	NM_006660.5(CLPX):c.1424A>G (p.Lys475Arg)	CLPX (K475R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1603579	NM_006660.5(CLPX):c.1398G>A (p.Ser466=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	CLPX-related condition +1 more	GBenign/Likely benign
Select item 2175183	NM_006660.5(CLPX):c.1397C>T (p.Ser466Leu)	CLPX (S466L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2265372	NM_006660.5(CLPX):c.1391G>A (p.Gly464Glu)	CLPX (G464E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1660373	NM_006660.5(CLPX):c.1380T>C (p.Ala460=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2748279	NM_006660.5(CLPX):c.1373A>T (p.Asp458Val)	CLPX (D458V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924874	NM_006660.5(CLPX):c.1361C>T (p.Ala454Val)	CLPX (A454V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989336	NM_006660.5(CLPX):c.1312-16A>C	CLPX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2790141	NM_006660.5(CLPX):c.1311+10T>C	CLPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031327	NM_006660.5(CLPX):c.1305T>C (p.Asn435=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2171743	NM_006660.5(CLPX):c.1271A>G (p.Asn424Ser)	CLPX (N424S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3014712	NM_006660.5(CLPX):c.1252G>A (p.Val418Met)	CLPX (V418M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2725348	NM_006660.5(CLPX):c.1249T>C (p.Phe417Leu)	CLPX (F417L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940470	NM_006660.5(CLPX):c.1237A>G (p.Thr413Ala)	CLPX (T413A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1632376	NM_006660.5(CLPX):c.1152A>G (p.Leu384=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1621761	NM_006660.5(CLPX):c.1147-17A>C	CLPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164995	NM_006660.5(CLPX):c.1146+13G>A	CLPX	Single nucleotide variant (non-coding transcript variant +1 more)	Protoporphyria, erythropoietic, 2 +1 more	GBenign
Select item 1895784	NM_006660.5(CLPX):c.1146+11G>A	CLPX	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2961725	NM_006660.5(CLPX):c.1117C>T (p.Arg373Trp)	CLPX (R373W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1562913	NM_006660.5(CLPX):c.1113A>G (p.Gln371=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1671036	NM_006660.5(CLPX):c.1065C>G (p.Val355=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2381019	NM_006660.5(CLPX):c.1056A>C (p.Gln352His)	CLPX (Q352H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1654351	NM_006660.5(CLPX):c.1038T>C (p.Asn346=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2379874	NM_006660.5(CLPX):c.1032T>G (p.Asn344Lys)	CLPX (N344K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2708218	NM_006660.5(CLPX):c.987C>T (p.Gly329=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 545573	NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)	CLPX (G298D)	Single nucleotide variant (missense variant +1 more)	Protoporphyria, erythropoietic, 2	GLikely pathogenic
Select item 1652180	NM_006660.5(CLPX):c.893-8A>G	CLPX	Single nucleotide variant (intron variant)	CLPX-related condition +1 more	GLikely benign
Select item 2803630	NM_006660.5(CLPX):c.892+8A>T	CLPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3145994	NM_006660.5(CLPX):c.761G>T (p.Gly254Val)	CLPX (G254V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1600204	NM_006660.5(CLPX):c.748G>A (p.Gly250Ser)	CLPX (G250S)	Single nucleotide variant (missense variant +1 more)	CLPX-related condition +1 more	GBenign
Select item 1382573	NM_006660.5(CLPX):c.712A>G (p.Thr238Ala)	CLPX (T238A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1640541	NM_006660.5(CLPX):c.674-20A>G	CLPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962765	NM_006660.5(CLPX):c.673+13A>G	CLPX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1517427	NM_006660.5(CLPX):c.673+4G>A	CLPX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2966891	NM_006660.5(CLPX):c.656C>T (p.Thr219Ile)	CLPX (T219I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3145993	NM_006660.5(CLPX):c.628A>G (p.Arg210Gly)	CLPX (R210G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1347032	NM_006660.5(CLPX):c.601A>C (p.Ile201Leu)	CLPX (I201L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2962763	NM_006660.5(CLPX):c.550T>C (p.Ser184Pro)	CLPX (S184P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1895775	NM_006660.5(CLPX):c.513+10_513+13dup	CLPX	Duplication (intron variant)	not provided	GLikely benign
Select item 1423880	NM_006660.5(CLPX):c.513+4T>C	CLPX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2338229	NM_006660.5(CLPX):c.493C>T (p.Pro165Ser)	CLPX (P165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1486846	NM_006660.5(CLPX):c.484C>G (p.Gln162Glu)	CLPX (Q162E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2294110	NM_006660.5(CLPX):c.467C>T (p.Ala156Val)	CLPX (A156V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1596385	NM_006660.5(CLPX):c.463G>A (p.Glu155Lys)	CLPX (E155K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2335268	NM_006660.5(CLPX):c.439A>G (p.Ile147Val)	CLPX (I147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2983830	NM_006660.5(CLPX):c.382G>A (p.Glu128Lys)	CLPX (E128K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2736223	NM_006660.5(CLPX):c.368G>A (p.Arg123His)	CLPX (R123H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2554599	NM_006660.5(CLPX):c.364A>G (p.Thr122Ala)	CLPX (T122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3010327	NM_006660.5(CLPX):c.330C>G (p.Asp110Glu)	CLPX (D110E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2882643	NM_006660.5(CLPX):c.327C>T (p.Gly109=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1649812	NM_006660.5(CLPX):c.310C>T (p.Arg104Cys)	CLPX (R104C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3007867	NM_006660.5(CLPX):c.298G>A (p.Gly100Arg)	CLPX (G100R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2422112	NM_006660.5(CLPX):c.291G>T (p.Gly97=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711417	NM_006660.5(CLPX):c.264T>C (p.Ser88=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1673243	NM_006660.5(CLPX):c.240+17A>G	CLPX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1358995	NM_006660.5(CLPX):c.193G>T (p.Ala65Ser)	CLPX (A65S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1645480	NM_006660.5(CLPX):c.137C>T (p.Thr46Ile)	CLPX (T46I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2538961	NM_006660.5(CLPX):c.128C>T (p.Thr43Ile)	CLPX (T43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1600518	NM_006660.5(CLPX):c.95G>C (p.Arg32Pro)	CLPX (R32P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2159269	NM_006660.5(CLPX):c.72G>A (p.Ala24=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1561598	NM_006660.5(CLPX):c.56C>T (p.Ser19Phe)	CLPX (S19F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2963432	NM_006660.5(CLPX):c.55T>G (p.Ser19Ala)	CLPX (S19A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2328755	NM_006660.5(CLPX):c.47T>G (p.Leu16Arg)	CLPX (L16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2973942	NM_006660.5(CLPX):c.46C>A (p.Leu16Ile)	CLPX (L16I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977713	NM_006660.5(CLPX):c.45G>A (p.Arg15=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069220	NM_006660.5(CLPX):c.42C>T (p.Val14=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1576486	NM_006660.5(CLPX):c.42C>A (p.Val14=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2547105	NM_006660.5(CLPX):c.41T>G (p.Val14Gly)	CLPX (V14G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2044960	NM_006660.5(CLPX):c.41T>C (p.Val14Ala)	CLPX (V14A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3016086	NM_006660.5(CLPX):c.37G>A (p.Ala13Thr)	CLPX (A13T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892512	NM_006660.5(CLPX):c.33G>T (p.Ala11=)	CLPX	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2720068	NM_006660.5(CLPX):c.33G>C (p.Ala11=)	CLPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2749748	NM_006660.5(CLPX):c.29G>C (p.Gly10Ala)	CLPX (G10A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925338	NM_006660.5(CLPX):c.22A>G (p.Thr8Ala)	CLPX (T8A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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