NXPE4[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 2352419	NM_001077639.2(NXPE4):c.1597G>A (p.Gly533Arg)	NXPE2, NXPE4 (G249R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533916	NM_001077639.2(NXPE4):c.1572T>G (p.Asn524Lys)	NXPE2, NXPE4 (N524K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203539	NM_001077639.2(NXPE4):c.1532T>C (p.Ile511Thr)	NXPE2, NXPE4 (I511T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212035	NM_001077639.2(NXPE4):c.1484A>T (p.Gln495Leu)	NXPE2, NXPE4 (Q211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212034	NM_001077639.2(NXPE4):c.1456A>G (p.Arg486Gly)	NXPE2, NXPE4 (R202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306607	NM_001077639.2(NXPE4):c.1403C>T (p.Thr468Ile)	NXPE2, NXPE4 (T184I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203538	NM_001077639.2(NXPE4):c.1402A>C (p.Thr468Pro)	NXPE2, NXPE4 (T184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250318	NM_001077639.2(NXPE4):c.1306G>C (p.Gly436Arg)	NXPE2, NXPE4 (G436R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203537	NM_001077639.2(NXPE4):c.1289T>C (p.Val430Ala)	NXPE2, NXPE4 (V146A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203536	NM_001077639.2(NXPE4):c.1274G>A (p.Gly425Glu)	NXPE2, NXPE4 (G425E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203535	NM_001077639.2(NXPE4):c.1270G>A (p.Gly424Arg)	NXPE2, NXPE4 (G424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275574	NM_001077639.2(NXPE4):c.1256C>T (p.Ala419Val)	NXPE2, NXPE4 (A135V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557279	NM_001077639.2(NXPE4):c.1232A>C (p.Lys411Thr)	NXPE2, NXPE4 (K127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612499	NM_001077639.2(NXPE4):c.1228G>C (p.Val410Leu)	NXPE2, NXPE4 (V126L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381423	NM_001077639.2(NXPE4):c.1075G>A (p.Glu359Lys)	NXPE2, NXPE4 (E359K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203534	NM_001077639.2(NXPE4):c.1064G>A (p.Arg355His)	NXPE2, NXPE4 (R71H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203533	NM_001077639.2(NXPE4):c.1063C>T (p.Arg355Cys)	NXPE2, NXPE4 (R71C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614217	NM_001077639.2(NXPE4):c.1055C>G (p.Ser352Cys)	NXPE2, NXPE4 (S352C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203544	NM_001077639.2(NXPE4):c.940A>G (p.Thr314Ala)	NXPE2, NXPE4 (T30A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203543	NM_001077639.2(NXPE4):c.907A>G (p.Met303Val)	NXPE2, NXPE4 (M19V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343196	NM_001077639.2(NXPE4):c.752G>A (p.Cys251Tyr)	NXPE2, NXPE4 (C251Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364836	NM_001077639.2(NXPE4):c.634A>G (p.Thr212Ala)	NXPE2, NXPE4 (T212A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301739	NM_001077639.2(NXPE4):c.562G>A (p.Val188Met)	NXPE2, NXPE4 (V188M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514067	NM_001077639.2(NXPE4):c.550C>T (p.Pro184Ser)	NXPE2, NXPE4 (P184S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601870	NM_001077639.2(NXPE4):c.480C>A (p.Asn160Lys)	NXPE2, NXPE4 (N160K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301738	NM_001077639.2(NXPE4):c.443T>C (p.Met148Thr)	NXPE2, NXPE4 (M148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391184	NM_001077639.2(NXPE4):c.437C>T (p.Ala146Val)	NXPE2, NXPE4 (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203541	NM_001077639.2(NXPE4):c.434C>T (p.Pro145Leu)	NXPE2, NXPE4 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205758	NM_001077639.2(NXPE4):c.385C>T (p.Arg129Cys)	NXPE2, NXPE4 (R129C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343921	NM_001077639.2(NXPE4):c.329C>T (p.Thr110Met)	NXPE2, NXPE4 (T110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595980	NM_001077639.2(NXPE4):c.289G>A (p.Ala97Thr)	NXPE2, NXPE4 (A97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365492	NM_001077639.2(NXPE4):c.284C>T (p.Thr95Ile)	NXPE2, NXPE4 (T95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301736	NM_001077639.2(NXPE4):c.238G>A (p.Asp80Asn)	NXPE2, NXPE4 (D80N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203540	NM_001077639.2(NXPE4):c.226A>G (p.Ile76Val)	NXPE2, NXPE4 (I76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242087	NM_001077639.2(NXPE4):c.214A>G (p.Ile72Val)	NXPE4, NXPE2 (I72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362450	NM_001077639.2(NXPE4):c.213A>T (p.Arg71Ser)	NXPE2, NXPE4 (R71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301737	NM_001077639.2(NXPE4):c.124T>G (p.Ser42Ala)	NXPE2, NXPE4 (S42A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301076	NM_001077639.2(NXPE4):c.103T>C (p.Ser35Pro)	NXPE2, NXPE4 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275389	NM_001077639.2(NXPE4):c.102G>C (p.Trp34Cys)	NXPE2, NXPE4 (W34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203545	NM_001077639.2(NXPE4):c.94A>G (p.Lys32Glu)	NXPE2, NXPE4 (K32E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209367	NM_001077639.2(NXPE4):c.88T>C (p.Ser30Pro)	NXPE2, NXPE4 (S30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540206	NM_001077639.2(NXPE4):c.46T>C (p.Phe16Leu)	NXPE2, NXPE4 (F16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 59